Monday, April 4

10:30-12:00 Main Hall

PL1 Plenary Lecture 1

Chairs: Helena KääriäinenResearch Professor at National Institute for Health and Welfare, Helsinki; Clinical Geneticist, Finland

Shoji TsujiDepartment of Neurology and Medical Genome Center, The University of Tokyo Hospital; Medical Genomics Research Initiative, The University of Tokyo, Japan

Mon(2)-PL1-1

Recent Progress in iPS Cell Research and ApplicationShinya YamanakaCenter for iPS Cell Research and Application (CiRA), Kyoto University, Japan

The appeal of induced pluripotent stem cells (iPSCs) is that they can proliferate almost indefinitely and differentiate into multiple lineages. As a result, cell-based therapies, disease mechanisms and new drug development are being studied worldwide using iPSC technology.

We are currently establishing technologies for the efficient generation of safe iPSCs. The original iPSCs were made from retroviral transduction, which risks chromosomal damage. We have since reported an integration-free method using episomal vectors. Further, we have proposed the use of L-Myc to reduce the risk of tumorigenicity while maintaining iPSC induction at high efficiency. We have also removed the need for conventional feeder cells or culture materials from different species but consistent with regulatory requirements for medical practice by having developed a recombinant laminin-based matrix and a culture medium free of animal-derived constituents (xeno-free). Regarding quality control, some marker genes for neural differentiation-defective clones were identified, indicating the possibility of screening out low-quality iPSCs before use.

In 2014, the world’s first clinical study using iPSCs was initiated. iPSC-based therapies for other disorders are also nearing clinical study, suggesting applicability to many diseases. To push these efforts, we are proceeding with an iPSC stock project in which iPSC clones are established from donors with a homologous HLA haplotype, which lessens the risk of transplant rejection, with the aim of quality-assured iPSCs for future cell therapies.

Another application of iPSCs is drug screening, toxicity studies and the elucidation of disease mechanisms. In addition, iPSCs may be resourceful for preventative measures, as they make it possible to predict the patient condition and provide a preemptive therapeutic approach to protect against the onset of the disease. Additionally, accumulating evidence is demonstrating the benefits of iPSCs in drug repositioning.

Professor Shinya Yamanaka is most recognized for his discovery of induced pluripotent stem cells (iPSC), which are differentiated cells that have been reprogrammed to the pluripotent state. He is Director of the Center for iPS Cell Research and Application (CiRA), which was founded in 2008 at Kyoto University in response to his discovery, and Senior Investigator at the Gladstone Institutes in San Francisco. He has received many prestigious awards, and the significance of iPSC was culminated with Dr. Yamanaka being awarded the Nobel Prize in 2012. To bring iPSC technology to human health care, at CiRA, he has recruited a mixture of scientists conducting basic research and clinicians applying this research to disparate diseases.

Shinya YamanakaCenter for iPS Cell Research and Application (CiRA), Kyoto University, Japan

Shinya Yamanaka received a M.D. from Kobe University in 1987 and a Ph.D. from Osaka City University in 1993. He was a postdoctral fellow at the the Gladstone Institutes between 1993 and 1996, Assistant Professor at Osaka City University between 1996 and 1999, and finally Associate Professor and then Professor at Nara Institute of Science and Technology between 1999 and 2004. Thereafter he joined Kyoto University, where he is currently Director and Professor of the Center for iPS Cell Research and Application and is also now Senior Investigator at Gladstone. Dr. Yamanaka received the Nobel Prize in 2012 for the discovery of induced pluripotent stem cells (iPSCs). His vision is to bring iPSC-based therapeutices to the clinic.

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Mon(2)-PL1-2

Secrets of the Human Genome: The 35-year journey of genomic medicineEric S. LanderThe Eli and Edythe L. Broad Institute; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA

The talk will discuss the foundations for discovering the genetic basis of common human diseases—including the early development of theoretical methods for mapping the genes underlying polygenic traits; sequencing of the human genome comprehensive discovery of the genetic variation in the human population; systematic characterization of genomic features; and empirical insights into the genetic architecture of common human disease. It will then describe recent progress in genetic analysis of important diseases—such as schizophrenia, heart disease, inflammatory bowel disease and obesity—and close by looking forward to the years ahead.

ERIC LANDER is the President and Founding Director of the Broad Institute of Harvard and MIT. Dr. Lander was one of the principal leaders of the Human Genome Project, directing the largest center in the international project. He has developed many of the key concepts, tools and information resources in modern genomics, propelling a revolution in our understanding of inherited disease and cancer, genetic regulation and evolution. The recipient of numerous awards, he was elected a member of the US National Academy of Sciences and Institute of Medicine.Dr. Lander was appointed by President Obama to co-chair the President’s Council of Advisors on Science and Technology, which advises the White House on matters including health, advanced manufacturing, energy policy, information technology, nanotechnology and national security.

Eric S. LanderThe Eli and Edythe L. Broad Institute; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA

Dr. Lander earned his B.A. from Princeton (1978) and his Ph.D. from Oxford (1981) as a Rhodes Scholar. He teaches on the faculty of MIT and the Harvard Medical School. From 1981-1989, he taught managerial economics on the faculty of the Harvard Business School. He has been a co-founder of several successful biotechnology firms.Tony Cenicola /

The New York Times

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13:30-15:30 Annex 1

CIS1 Concurrent Invited Session 1 "Functional and Computational Genomics"

Conveners: Hiroyuki AburataniGenome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Japan

Manolis KellisMIT Computational Biology, USA

Recent progress in next generation sequencing technologies generated unprecedented amount of genomic data, from genome to epigenome. Integration of individual omics data, particularly in relation to phenotype information, will be crucial in annotating human genome and elucidating disease mechanisms. This session will assemble leaders who studies computational/functional genomics.

Mon(2)-CIS1-1

Dissecting the circuitry of FTO and adipocyte browning in human obesityMelina ClaussnitzerBIDMC, Harvard Medical School, USA

Mon(2)-CIS1-2

Histone Acetylome-wide Association StudiesShyam PrabhakarComputational and Systems Biology, Genome Institute of Singapore, Singapore

Mon(2)-CIS1-3

A human variation panel of genetic influences on epigenomes and transcriptomes in three immune cellsNicole SoranzoHuman Genetics, Wellcome Trust Sanger Institute, UK

Mon(2)-CIS1-4

Integrated genomic analysis of liver cancer progressionHiroyuki AburataniResearch Center for Advanced Science and Technology, The University of Tokyo, Japan

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15:50-17:50 Annex 1

CIS2 Concurrent Invited Session 2

"New Technology: Single Cell Sequencing" Jointly Sponsored by the 164th Committee on Genome Technology, JSPS

Conveners: Sumio SuganoDepartment of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan

Stephen QuakeDepartments of Applied Physics and Bioengineering, Stanford University and Howard Hughes Medical Institute, USA

Because cell is the ultimate functional unit that composes the living organism, the quantitative and comprehensive analysis of biomolecules in a single cell is required for understanding the real picture of the life at the molecular level. Such an analysis have been a “dream” for the long period of time. The recent advancement in the sequence technology and in the fluid handling technology at the nano-liter level scale is now allowing us to achieve such a “dream” at least for RNA and DNA. In this "New Technology: Single Cell Sequencing" session, we tried to invite scientists at the forefront of this area not only for the technology but also for the real analysis. Thus, you will hear not only the cutting edge microfluidics and massive single cell sequencing but also the comprehensive picture of gene expression diversities among a cell population and the heterogeneity of cell seen from the single cell RNA and DNA sequences. We wish this session will help you to envisage future of biology as well as to understand the current status of the single cell sequence.

Mon(2)-CIS2-1

Highly accurate and precise single-cell sequencing facilitated by microfluidicsYanyi HuangBiodynamic Optical Imaging Center, Peking University, China

Mon(2)-CIS2-2

Molecular Anatomy of the Brain by Large-Scale Single-Cell RNA-SeqSten LinnarssonMedical Biochemistry and Biophysics, Karolinska Institutet, Sweden

Mon(2)-CIS2-3

Immunology from the “Bottom-Up” with Single-Cell GenomicsAlex K. ShalekIMES & Chemistry, MIT, Ragon Institute & Broad Institute, USA

Mon(2)-CIS2-4

Single Cell GenomicsStephen QuakeDepartments of Applied Physics and Bioengineering, Stanford University and Howard Hughes Medical Institute, USA

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13:30-15:30 Annex 2

CIS3 Concurrent Invited Session 3 " Implementation of Genome Information for Health Care and Drug

Discovery"

Conveners: Robyn WardThe University of Queensland, Australia

Geoffrey GinsburgDuke University, School of Medicine; Pratt School of Engineering, USA

This year marks the 25th anniversary of the initiation of the human genome project (HGP). At the same time many nations are grappling with health care reform aiming to reduce costs, increase access and improve outcomes and quality. What is the potential for genome information to contribute to advances in health care? Despite the fact that the HGP was not conceived with these goals in many life science organizations are harnessing this knowledge to achieve those lofty goals. This session will highlight the global landscape for implementation of genomic medicine. An international community focused on common challenges might have an opportunity to accelerate achieving fundamental changes in health care (Ginsburg). A key success factor is the ability to demonstrate the value proposition for genomic medicine to a broad stakeholder group of policy makers, payers, providers, and to patients (Ward). The pharmaceutical industry is re- investing in genome based drug discovery and precision medicine driven clinical trials to improve its success/failure rate and to deliver safer and more effective genome-based medicines (Plump). Now more than ever in the history of medicine, the patients and the public are looking for access to their data as part of the health care experience. Consumer driven genomics has emerged as a powerful platform to aggregate this data along with phenotypes that in turn are poised to have significant impact on health and disease management (Wojcicki).

Mon(2)-CIS3-1

Assessing the value of genomics Robyn WardThe University of Queensland, Australia

Mon(2)-CIS3-2

Implementation of Genome Information for Health Care and Drug DiscoveryGeoffrey GinsburgDuke University, School of Medicine; Pratt School of Engineering, USA

Mon(2)-CIS3-3

The New Era of Drug Discovery: Human Genetics, Data Science & New ModalitiesAndrew S. PlumpChief Medical & Scientific Officer, Takeda Pharmaceutical Co., Ltd., USA

Mon(2)-CIS3-4

Making Discoveries on the 23andMe PlatformAnne Wojcicki23andMe, USA

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15:50-17:50 Annex 2

CIS4 Concurrent Invited Session 4 "Regenerative Medicine"

Conveners: Haruhisa InoueDepartment of Cell Growth and Differentiation, Center for iPS Cell Research and Application (CiRA), Kyoto University, Japan

John D. SindenReNeuron Limited, UK

In Japan, after the recent implementation of the new law for regulating regenerative medicine, the landscape of stem cell-based medicine has been changing very rapidly. In addition, the world’s first clinical trial using patient iPSCs was started last September. Now an opportunity to lead the world has presented itself to Japan.Speaking attending this symposium, we have 4 leading researchers in the translation of stem cell science into regenerative medicine and towards clinical trials. We look forward to vibrant and rewarding discussions.

Mon(2)-CIS4-1

Stem cell therapies in Europe: Taking the CTX human neural stem cell product to clinical trials in disabled stroke patientsJohn D. SindenReNeuron Limited, UK

Mon(2)-CIS4-2

Engineering the Morphogenesis of Pluripotent Stem CellsTodd C. McDevittGladstone Institutes of Cardiovascular Diseases; Bioengineering and Therapeutics at the University of California, San Francisco, USA

Mon(2)-CIS4-3

Retinal progenitor cells: From bench to clinicPetr BaranovSchepens Eye Research Institute, Mssachusetts Eye & Ear; Department of Ophthalmology, Harvard Medical School, Boston MA, USA

Mon(2)-CIS4-4

Possible future of regenerative medicine using cell sheet engineering and iPS cell technologyKatsuhisa MatsuuraTokyo Women's Medical University, Japan

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13:30-15:30 Room A

CIS5 Concurrent Invited Session 5 "Advances in Cancer Genomics"

Conveners: Tatsuhiro ShibataLaboratory of Molecular Medicine & Laboratory of Genome Technology of Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan

David A. WheelerHuman Genome Sequencing Center/ Baylor College of Medicine, USA

Intensive application world-wide of next generation sequencing technologies has enabled us to define the global genetic alterations, including driver genes, in a wide range of cancers. Organization of large arrays of driver genes into a small number of signaling pathways and cellular processes has revealed the inner workings of the cancer cell and led to the notion of molecular classification of tumors. Limited successes of molecular targeted therapies support the validity of such molecular classification but demonstrate that there is much still to learn. In this session we will delve into novel applications of next generation sequencing that are expanding the frontier of tumor biology. Research efforts in rare cancers identify still missing driver genes, and multi-layered omics approaches improve the functional annotation of infrequent driver genes. Emerging clinical interests in the development of immunotherapies suggest that a complete molecular classification of tumors must include immune constituents and the details of the mutational burden. Finally, intra-tumoral genetic heterogeneity has revealed dynamic changes in clonal constitution of a tumor as it metastasizes and evolves. The properties of this evolution carry implications for acquired drug resistance. We will present these recent advances and discuss future directions in the cancer genomics field.

Mon(2)-CIS5-1

Genomic Profiling of a T-cell LeukemiaDavid A. WheelerHuman Genome Sequencing Center/ Baylor College of Medicine, USA

Mon(2)-CIS5-2

Genetic and transcriptomic landscape of biliary tract cancerTatsuhiro ShibataLaboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo; Division of Cancer Genomics, National Cancer Center, Japan

Mon(2)-CIS5-3

ASIAN CANCER GENOMICS AND ITS CLINICAL IMPLICATIONSBin Tean TehNational Cancer Centre Singapore, Singapore

Mon(2)-CIS5-4

The evolutionary history of prostate cancer from pre-malignant lesion to lethal metastasisDavid C. WedgeCancer Genome Project, Wellcome Trust Sanger Institute, UK

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15:50-17:50 Room A

CIS6 Concurrent Invited Session 6 "Cancer Genomics: HBOC"

Conveners: Seigo NakamuraDepartment of Breast Surgical Oncology, Showa University School of Medicine, Japan

Sung-Won KimDaerim St. Mary’s Hospital, Korea

The Current Approach for Hereditary Breast and Ovarian Cancer from the Aspect of Precision Medicine

In the U.S. or in Europe, about 5% to 10% of breast cancers are thought to be hereditary. Most inherited cases of breast cancer are associated with two abnormal genes: BRCA1 and BRCA2. Germline mutations of BRCA1and BRCA2 genes can cause very high rates of breast and ovarian cancer, so called Hereditary Breast and Ovarian Cancer (HBOC) .And the prevalence is almost the same in Asian countries. Management of HBOC family members are, (1) Intensive screening including Breast MRI (2) Risk reducing mastectomy or Risk reducing salpingo-oophrectomy (3) Chemoprevention (Tamoxifen for prevention of breast cancer) Proper option for each subject should be selected according to each view of life or values. Therefore skillful genetic counsellors or geneticists are necessary for breast oncology team,. The strategies to conquer HBOC are still far behind in Asian countries at present. In this symposium, we will review the current status of HBOC management and discuss about key issues to improve the management of HBOC in Asia.In the era of next generation sequencing ,we may encounter unexpected rare hereditary disease such as Li-Fraumeni syndrome or Cowden disease and we shouldn’t miss them and send them to the specialist of each rare disease. In this symposium, we also focus on how to manage incidental findings among leading hospitals in this field.

Finally, the future vision of precision medicine or preemptive medicine in the management for HBOC will be discussed.

Mon(2)-CIS6-1

The current approach for hereditary breast cancer from the aspect of precision medicine in the U.S.Banu ArunUniversity of Texas MD Anderson Cancer Center, USA

Mon(2)-CIS6-2

Current Status and Future of Hereditary Breast Cancer in Asia Ava KwongDivision of Breast Surgery, Department of Surgery, The University of Hong Kong, Hong Kong, China

Mon(2)-CIS6-3

The current approach for hereditary breast cancer from the aspect of basic scienceSoo H. TeoCancer Research Malaysia; University Malaya Medical Center, Malaysia

Mon(2)-CIS6-4

Updates of the Korean Hereditary Breast Cancer (KOHBRA) StudySung-Won KimSurgery, Daerim St. Mary’s Hospital, Korea

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13:30-15:30 Room E

CIS7 Concurrent Invited Session 7 "Human Evolution: Archaic and Modern Humans"

Conveners: Naruya SaitouDivision of Population Genetics, National Institute of Genetics, Japan

Mark StonekingMax Planck Institute for Evolutionary Anthropology, Germany

Analyses of DNA obtained from human fossils (including those of archaic humans such as Neandertals and Denisovans), combined with the increasing amount of genome-wide data available from various populations of modern humans, are providing important new insights into human evolutionary history. In particular, the ancestry that archaic humans provided to modern humans has proven valuable in reconstructing the migration history of human populations and in identifying genetic changes that differentiate modern from archaic humans. In addition, some studies have found evidence for positive selection on specific archaic genes in modern humans, indicating that some archaic genes provided an adaptive advantage to modern humans. Moreover, ancient DNA from modern human skeletons is proving to be a rich source of new insights into more recent human evolution. This session will provide an overview of some of the latest developments to arise from genomic studies of archaic and modern humans, including insights into the history of human populations in Asia and in the Pacific, the distribution of archaic ancestry in modern human genomes, and the overall similarities and differences between archaic and modern humans.

Mon(2)-CIS7-1

Excavating archaic hominin DNA from the genomes of modern humansJoshua M. AkeyDepartment of Genomic Sciences, University of Washington, USA

Mon(2)-CIS7-2

Ancient DNA of early modern humansQiaomei FuInstitute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, China

Mon(2)-CIS7-3

A Genomic Perspective on the Colonization of the PacificMark StonekingMax Planck Institute for Evolutionary Anthropology, Germany

Mon(2)-CIS7-4

Genomic history of East Eurasians with special reference to Japonesians and NegritosNaruya SaitouDivision of Population Genetics, National Institute of Genetics; Department of Genetics, SOKENDAI; Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan

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15:50-17:50 Room E

CIS8 Concurrent Invited Session 8 "Genetics of Recurrent Pregnancy Loss"

Conveners: Mayumi Sugiura-OgasawaraObstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences; Center for Recurrent Pregnancy Loss, Japan

Mary D. StephensonDepartment of Obstetrics and Gynecology, University of Illinois at Chicago, USA

Recurrent miscarriage (RM) is classically defined as three or more consecutive pregnancy losses occurring before 20 weeks postmenstruation. However, many researchers have now revised the definition to two or more pregnancy losses, because of the recent increase in the prevalence of childless couples. Thus, recurrent pregnancy loss (RPL) which is defined as two or more pregnancy losses at any gestational age is used recently. The estimated frequencies of three or more and two or more consecutive pregnancy losses are 0.9% and 4.2% in the Japanese general population.Antiphospholipid syndrome (APS), uterine anomalies and abnormal chromosomes in either partner are established causes of RPL. Only about 30% of cases have an identifiable cause and it is well-known that the cause remains unexplained in over a half of the cases. The abnormal embryonic karyotype was found in 41.1% of patients in whom both conventional causes and karyotype of aborted conceptus could be examined in our previous study. Therefore, the prevalence of truly unexplained, of cases with normal embryonic karyotype, was only 24.5%. An abnormal embryonic karyotype is usually included in unexplained because the embryonic karyotype is seldom analyzed clinically.Recently, an association between about 120 kinds of polymorphisms and RPL has been reported. Factor V Leiden mutation is well-known to be associated with RPL. An association between parental and embryonic chromosome and candidate genes and RPL are presented in the session.

Mon(2)-CIS8-1

Miscarriage chromosome testing: Conventional cytogenetic analysis vs. molecular Evica Rajcan-SeparovicDepartment of Pathology, University of British Columbia, Canada

Mon(2)-CIS8-2

Recurrent Pregnancy Loss: Miscarriage and Parental Chromosome TestingMary D. StephensonDepartment of Obstetrics and Gynecology, University of Illinois at Chicago, USA

Mon(2)-CIS8-3

Can PGS/PGD improve live birth rate in RPL? Ruth B. LathiDepartment of Reproductive Rndocrinology and Infertility, Stanford University, USA

Mon(2)-CIS8-4

Candidate genes associated with recurrent pregnancy lossMayumi Sugiura-OgasawaraObstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences; Center for Recurrent Pregnancy Loss, Japan

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13:30-15:30 Room B-1

CIS9 Concurrent Invited Session 9 "Clinical Genetics and Dysmorphology"

Conveners: Hiroshi KawameDepartment of Education and Training, Tohoku University, Japan

Louanne HudginsPediatrics/Medical Genetics, Stanford University School of Medicine, USA

This session will illustrate how important dysmorphology is in determining the underlying genetic diagnosis in individuals from the prenatal period to adulthood.

Dr. Louanne Hudgins will review how important prenatal imaging via ultrasound and magnetic resonance imaging is in the noninvasive diagnosis of a number of disorders including the RASopathies and skeletal dysplasias.

The importance of ongoing and detailed phenotyping in the interpretation of results from clinical and research-based next generation sequencing will be discussed by Dr. Raoul Hennekam.

Dr. Alain Verloes will provide a construct for the evaluation of individuals with primary microcephaly including those associated with dwarfism.

Dr. Tomaki Kosho will describe a unique form of Ehlers-Danlos syndrome which is associated with distinctive dysmorphic features.

Mon(2)-CIS9-1

Prenatal Presentation of Genetic DisordersLouanne HudginsPediatrics/Medical Genetics, Stanford University School of Medicine, USA

Mon(2)-CIS9-2

Next Generation Sequencing demands Next Generation PhenotypingRaoul C. HennekamDepartment of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands

Mon(2)-CIS9-3

Primary microcephalies and primordial microcephalic dwarfismsAlain VerloesDept of Genetics, Robert DEBRE Univerity Hospital, Sorbonne Paris-Cité University Denis Diderot Medical School and INSERM UM1141, Paris, France

Mon(2)-CIS9-4

From dysmorphology to human biology: A lesson from the discovery of Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiencyTomoki KoshoMedical Genetics, Shinshu University School of Medicine, Japan

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15:50-17:50 Room B-1

CIS10 Concurrent Invited Session 10 "Human Genomics in Infectious Diseases"

Conveners: Katsushi TokunagaDepartment of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan

Adrian V.S. HillDirector of Jenner Institute & Wellcome Trust Centre for Human Genetics, University of Oxford, UK

In this age of rapid globalization, infectious diseases represent a major threat to human health worldwide. In addition to new outbreaks established endemic diseases cause millions of deaths each year. Combinations of pathogen and host genetic factors play a major role in both susceptibility to particular organisms and the course of infection and disease. A variety of approaches including candidate gene, exome-wide and genome-wide studies have identified a number of associations between human genetic variants and susceptibility to major infectious diseases, some with very large effect sizes. These contribute to our understanding of both the genetic architecture of infectious disease susceptibility and molecular pathogenic mechanisms, and provide fascinating insights into the impact that evolutionary selection by infectious pathogens has had on our genome. In addition, some associations point to exciting new possibilities for intervention and control. In this session, recent progress for major infectious diseases including HIV/AIDS, tuberculosis, leprosy, sepsis and hepatitis B is reviewed and discussed.

Mon(2)-CIS10-1

Genetic Susceptibility to some Common Bacterial Diseases of HumansAdrian V.S. HillWellcome Trust Centre for Human Genetics, Oxford University, UK

Mon(2)-CIS10-2

Immunogenetic Factors that Impact the Course of HIV infectionMary CarringtonCancer and Inflammation Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, USA

Mon(2)-CIS10-3

Genetic Study of Leprosy in Chinese Population: Susceptibility and Treatment ResponseJianjun LiuHuman Genetics, Genome Institute of Singapore, Singapore

Mon(2)-CIS10-4

Genomic approaches to hepatitis B virus related diseasesKatsushi TokunagaDepartment of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan

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14:00-15:30 Room D

ED1 Educational Program 1 "Career Development Sessions: How to Write a Good Manuscript"

Moderators: Eiji NanbaDivision of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan

Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

It is evident that there is no simple answer to the long-asked question of fellows and junior faculty members: How can we write good manuscripts?Two distinguished physician-scientists, who have served as editors of medical genetics journals for many years, will give tips on how physicians can improve their writing skills. The session is intended to be interactive.

Mon(2)-ED1-1

How to Write a Scientific PaperMaximilian MuenkeChief, Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), and Director, NIH Medical Genetics and Genomic Medicine Residency and Fellowship Programs, Bethesda, MD, USA

Mon(2)-ED1-2

How to write a scientific paper and a good piece of literary proseGiovanni NeriInstitute of Medical Genetics, Università Cattolica del S. Cuore, Rome, Italy

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ED2 Educational Program 2 "Career Development Sessions: How to Develop an Academic Career"

Moderators: Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Japan

Shinji SaitohDepartment of Pediatrics and Neonatology, Nagoya City University, Japan

Every senior scholar would agree with the classical Latin phrase, “Ars longa, vita brevis” translated into English as “Art is long, life is short”. Having said that, development of the careers of a young faculty is an unpredictable process, especially in a rapidly emerging field like the field of medical genetics. There would appear to be no formula other than the notorious “publish or perish” principle, which could make the process less unpredictable. Dr. Judith Hall, a prominent scientist and an enthusiastic educator, will give us helpful hints based on her own long scholarly career.

Mon(2)-ED2-1

Judith G. HallProfessor Emerita of Pediatrics and Medical Genetics, University of British Columbia, Canada

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18:00-19:30 Annex 1

O1 Concurrent Oral Session 1 "Cancer Genetics 1"

Chairs: Stephen E. LincolnScientific Affairs, Invitae, USA

Yoichi FurukawaDivision of Clinical Genome Research, The Institute of Medical Science, The University of Tokyo, Japan

Mon(2)-O1-1

Monitoring Cancer Burden in Liquid Biopsies Utilizing Two Assays; Amplicon Sequencing and Global Methylation Patterns to Characterize cfDNAMatthew Hymes, Cassie SchumacherSwift Biosciences, USA

Mon(2)-O1-2

Evaluation of prediction models for Lynch Syndrome: Updating the PREMM1,2,6 model to identify PMS2 mutation carriersAnne Goverde1,2, Manon C.W. Spaander2, Daan Nieboer3, Ans M.W. van den Ouweland1, Winand N.M. Dinjens4, Hendrikus J. Dubbink4, Carli M. Tops5, Marco J. Bruno2, Robert M.W. Hofstra1, Ewout W. Steyerberg3, Anja Wagner1

1Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 2Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 3Department of Public Health, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 4Department of Pathology, Erasmus MC, University Medical Center Rotterdam, the Netherlands, 5Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

Mon(2)-O1-3

Rapid and comprehensive routine diagnostic approach for prognostic genetic markers in multiple myelomaJacqueline Schoumans, Sandrine Bougeon, Elodie David, Laurence Etter, Noemie Gesson, Dominique MuehlematterMedical Genetics, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland

Mon(2)-O1-4

Clinical Validity and Actionability of Multigene NGS-Based Tests for Hereditary Cancers in a Large Multi-Center StudyStephen E Lincoln1, Andrea J Desmond2, Allison E Kurian3, Shan Yang1, Yuya Kobayashi1, Aaron Solomon1, Swaroop Aradadhya1, James M Ford2, Leif W Ellisen3

1Invitae, USA, 2Massachusetts General Hospital, Boston, Massachusetts, USA, 3Stanford University Medical Center, Palo Alto, California, USA

Mon(2)-O1-5

The Mitochondrial Mutational Landscape of Human Cancer and its Impact on Cancer ProgressionSneha Grandhi, Colleen M Bosworth, Wesley J Maddox, Thomas LaFramboiseGenetics and Genome Sciences, Case Western Reserve University, USA

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Mon(2)-O1-6

Normal or Not: The Impact of Sequencing the Matched Normal Tissue when Analyzing Somatic Variants in Cancer GenomesMichael J Clark, Elena Helman, Sean M Boyle, Selene Virk, Ravi Alla, Deanna Church, Shujun Luo, Jason Harris, Gabor Bartha, Nan Leng, Christian Haudenschild, Martina Lefterova, Massimo Morra, Sarah Garcia, Richard Chen, John WestBioinformatics, Personalis, USA

18:00-19:30 Annex 2

O2 Concurrent Oral Session 2 "Genetics/Genomics Education"

Chairs: Brenda J. WilsonSchool of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Canada

Takahito WadaDepartment of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Japan

Mon(2)-O2-1

Genomics and personalized medicine in primary care: a professional engagement study using theory-informed approachesBrenda J Wilson1, Christina A Catley2, Julian Little1, Stuart G Nicholls1, June C Carroll3, Holly Etchegary4, Monica Taljaard5, CIHR Emerging Team in Genomics in Screening1School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Canada, 2Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada, 3Department of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Canada, 4Craig L Dobbin Centre for Genetics, Memorial University, NL, Canada, 5Centre for Practice Changing Research, Ottawa Hospital Research Institute, Ottawa, On Canada

Mon(2)-O2-2

Supporting the workforce to deliver the 100,000 Genomes Project: the work of Health Education England’s Genomics Education ProgrammeMichelle Bishop1, Anneke Seller1, Sue Hill2, Val Davison1, Genomics Education Programme1Genomics Education Programme, Health Education England, UK, 2Chief Scientific Officer, NHS England

Mon(2)-O2-3

Human Genetics: Medical and Societal Implications. A high school course on a medical school campusMaurice Godfrey1, Jaynie E Bird2

1Munroe Meyer Institute, University of Nebraska Medical Center, USA, 2Omaha Public Schools and University of Nebraska Medical Center

Mon(2)-O2-4

Impact of educational messages for parents about newborn screening: a randomized factorial surveyBeth K Potter1, Brenda J Wilson1, June C Carroll2, Julian Little1, David Castle3, Pranesh Chakraborty4, Samantha Craigie5, Holly Etchegary6, Louise Lemyre1, Fiona A Miller2, George A Wells1, Jennifer Milburn4, Keith Miller1, Laure Tessier1, Ruth R White7, George Tawagi8, Mark Walker7, CIHR Emerging Team in Genomics in Screening1University of Ottawa, Canada, 2University of Toronto, 3University of Victoria, 4Children's Hospital of Eastern Ontario, 5McMaster University, 6Memorial University, 7Ottawa Hospital Research Institute, 8The Ottawa Hospital

ICHG2016

80

Mon(2)-O2-5

A psycho-educational intervention for people with a family history of depression for use in general practice. Results from pilot testingKristine K Barlow-Stewart1, Bettina Meiser2, Michelle Peate2, Charlene Levitan2, Peter Schofield3,4, Lyndal Trevena5, Timothy Dobbins5, Helen Christensen6, Kerry Sherman7, Kate Dunlop8, Philip Mitchell91Sydney Medical School Northern, University of Sydney, Australia, 2Psychosocial Research Group, Prince of Wales Clinical School, UNSW, Sydney, 3Neuroscience Research Australia, Sydney, 4School of Medical Sciences, UNSW, Sydney, 5Sydney School of Public Health, University of Sydney, Sydney, 6Black Dog Institute, Sydney, 7Centre for Emotional Health, Department of Psychology, Macquarie University, Sydney, 8Centre for Genetics Education, NSW Health, Royal North Shore Hospital, St Leonards, Sydney, 9School of Psychiatry, UNSW, Sydney

Mon(2)-O2-6

Exploring Australian public knowledge and understanding of DNA, genes and genetic testing in the era of personal genomicsBronwyn N Terrill1, Jacqueline Savard4, Chriselle Hickerton2,3, Erin Turbitt2,3, Ainsley J Newson4, Clara L Gaff5, Kathleen Gray2, Anna Middleton6, Brenda J Wilson7, Sylvia A Metcalfe2,3

1Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia, 2The University of Melbourne, 3Murdoch Childrens Research Institute, 4The University of Sydney, 5The Walter and Eliza Hall Institute of Medical Research, 6Wellcome Trust Sanger Institute, 7University of Ottawa

18:00-19:30 Room A

O3 Concurrent Oral Session 3 "Prenatal, Perinatal and Reproductive Genetics 1"

Chairs: Lingqian WuState Key Laboratory of Medical Genetics, Central South University, China

Michiko YamanakaDept. Clinical Genetics, St. Luke's International Hospital, Japan

Mon(2)-O3-1

Noninvasive Prenatal Testing and its Relevance to Clinical Practice: Update on Clinical Outcome Metrics on Over 85,000 CasesSucheta Bhatt, Patricia A. Taneja, Holly Snyder, Eileen de Feo, Kristina M. Kruglyak, Meredith Halks-Miller, Kirsten J. CurnowIllumina, Redwood City, CA, USA

Mon(2)-O3-2

Non-invasive prenatal diagnosis for single gene disordersLingqian Wu1,2, Weigang Lv2, Desheng Liang1,2, Yang Gao3

1State Key Laboratory of Medical Genetics, Central South University, China, 2Hunan Jiahui Genetics Hospital, Changsha, China, 3Berry Genomics, Beijing, China

Mon(2)-O3-3

Indication and detective rate of amniocentesis changed by the adoption of non-invasive prenatal genetic testingRie Oi1,2, Takahiro Yamashita1, Yoshiharu Takeda1, Setsuko Nakayama3, Miki Hatakeyama3, Takako Maruyama3, Hideki Sakamoto1, Tomoko Adachi1, Takashi Okai1, Toshiro Kubota2, Masao Nakabayashi11Obstetrics, Aiiku Hospital, Japan, 2Graduate School of Tokyo Medical and Dental University, 3Obstetrics, Aiiku Clinic

Program

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Mon(2)-O3-4

Development and validation of a novel whole genome sequencing pipeline for non-invasive prenatal detection of fetal submicroscopic chromosome anomaliesDesheng Liang1,2, Lingqian Wu1,2

1State Key Laboratory of Medical Genetics, Central South University, China, 2Hunan Jiahui Genetics Hospital, Changsha, China

Mon(2)-O3-5

Informed Choice in Prenatal Genetic Testing: the Choice Between Non-invasive and Invasive Prenatal TestingKarin E.M. Diderich1, Sanne L van der Steen1, Iris Bakkeren1, Maarten F.C.M. Knapen2,3, Attie T Go2, Aad Tibben4, Gosia M.I. Srebniak1, Diane Van Opstal1, Marike G Polak5, Sam R Riedijk1, Robert Jan Galjaard1

1Clinical Genetics, Erasmus MC, Netherlands, 2Department of Obstetrics and Prenatal Medicine, Erasmus MC, 3Foundation Prenatal Screening Southwest Region of the Netherlands, Rotterdam, 4Department of Clinical Genetics, Leiden University Medical Centre, Leiden, 5Institute of Psychology, Erasmus University Rotterdam

Mon(2)-O3-6

Differences in the background factors and awareness of noninvasive prenatal testing between pregnancies achieved with assisted reproductive technology and spontaneous pregnancy in JapanAkimune Fukushima1, Kayono Yamamoto1, Yumiko Kobayashi1, Tomoharu Tokutomi1, Tomonobu Kanasugi2, Fumiharu Miura2, NIPT consortium of Japan1Clnical Genetics, School of Medicine, Iwate Medical University, Japan, 2Obstetrics and Gynecology, School of Medicine, Iwate Medical University

18:00-19:30 Room E

O4 Concurrent Oral Session 4 "Bioinformatics and Genomic Technology 1"

Chairs: Altuna AkalinBIMSB, Max Delbrueck Center, Germany

Masao NagasakiDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Japan

Mon(2)-O4-1

A shared system for collating, storing, analysing and reporting clinical genomic data across ten independent organisations: a demonstration evaluationClara L. Gaff1, Natalie Thorne1, Tim Bakker1, David Hansen2, Alicia Oshlack3, Graham Taylor4, Andrew Lonie5, Melissa Martyn1,3, Ivan Macciocca1,4, Paul James5,6, William Wilson2, Maureen Turner7, Information Management, Genomics & Bioinformatics and Clinical Interpretation & Reporting Advisory Groups; VLSCI & Evaluation & Development teams, Advanced Users Group and the Alliance1Melbourne Genomics Health Alliance, Australia, 2Australian E-Health Research Centre, CSIRO, Australia, 3Murdoch Childrens Research Institute, Vic, Australia, 4Victorian Clinical Genetics Services, Vic, Australia, 5University of Melbourne, Vic, Australia, 6Melbourne Health, Vic, Australia, 7BioGrid Australia

ICHG2016

82

Mon(2)-O4-2

A systematic computational pipeline for mining high-confidence candidate mirSNPs in Hypertension-implicated genesLinda Koshy Vaidyan1, Harikrishnan S2, Raman Kutty V3, Jissa V T3, Jayakumaran A Nair1, A Gangaprasad1,4, G M Nair1, P R Sudhakaran1,5

1Inter-University Centre for Genomics and Gene Technology, Department of Biotechnology, Kerala University, India, 2Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, 3Achutha Menon Centre for Health Science Studies, Sree Chitra Tirunal Institute for Medical Sciences and Technology, 4Deparment of Botany, University of Kerala, 5Department of Computational Biology and Bioinformatics, University of Kerala

Mon(2)-O4-3

The BioOntological Relationship Graph (BORG) Database - a Novel Concept for Prioritizing Candidates from High Throughput Genomics StudiesJunaid Gamieldien, Mahjoubeh Jalali Sefid DashtiSouth African National Bioinformatics Institute, University of the Western Cape, South Africa

Mon(2)-O4-4

An automatic pipeline for analyzing sequencing data in families for disease studiesRen-Hua Chung1, Wei-Yun Tsai1, Chen-Yu Kang1, Po-Ju Yao1, Hui-Ju Tsai1,2,3, Chia-Hsiang Chen4,5

1Institute of Population Health Sciences, National Health Research Institutes, Taiwan, 2Department of Public Health, China Medical University, Taichung, Taiwan, 3Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA, 4Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Gueishan, Taoyuan, Taiwan, 5Department and Graduate Institute of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan

Mon(2)-O4-5

coalescentSTR: a statistical method that estimates repeat numbers for multiple samples from high-throughput sequencing data by considering coalescent theoryKaname Kojima1, Yosuke Kawai1, Naoki Nariai2, Takahiro Mimori1, Takanori Hasegawa3, Masao Nagasaki11Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Japan, 2Institute of Genomic Medicine, University of California, San Diego, 3Institute of Medical Science, University of Tokyo

Mon(2)-O4-6

A Statistical Exploration of How Multiple Enhancers Affect Traits JointlyYutaka Yasui1, Evadnie Rampersaud1, Guolian Kang1, Jane Hankins1, Jeremie Estepp1, Shuoguo Wang1, Ruopeng Feng1, Lance Palmer1, Zhaoming Wang1, Hideki Yanai2, Leslie Robison1, Jinghui Zhang1, Gang Wu1, Katsushi Tokunaga2, Mitchell J Weiss1

1St. Jude Children's Research Hospital, USA, 2University of Tokyo

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18:00-19:30 Room B-1

O5 Concurrent Oral Session 5 "Clinical Genetics and Dysmorphology 1"

Chairs: Pornswan WasantDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Thailand

Kayoko SaitoInstitute of Medical Genetics, Tokyo Women’s Medical University, Japan

Mon(2)-O5-1

Heterozygous mutation of alpha 3 chain of collagen type IV (COL4A3) in a large Japanese pedigree with autosomal dominant Alport syndrome showing a typical ultrastructural change in the glomerular basement membrane (GBM) of the kidneyHiroyuki Morita1, Junko Takagi1, Sho Hirase1, Ayano Ito2, Hirokazu Imai2, Koji Kimata3, Ichiro Naito4, Yoshifumi Ninomiya5, Kazuo Otake1

1Division of Endocrinology and Metabolism, Department of Internal Medicine, Aichi Medical University School of Medicine, Japan, 2Division of Nephrology and Rheumatology, Department of Internal Medicine, Aichi Medical University School of Medicine, 3Advanced Medical Research, Aichi Medical University School of Medicine, 4Department of Human Morphology, Okayama University School of Medicine, 5Department of Molecular Biology and Biochemistry, Okayama University School of Medicine

Mon(2)-O5-2

Identification of a 21.7kb deletion of SLC25A13 gene causing untranscription of the affected allele: Definite diagnosis of an infant with citrin deficiency by using a diversity of molecular toolsQi-Qi Zheng1, Zhan-Hui Zhang2, Han-Shi Zeng1, Wei-Xia Lin1, Yuan-Zong Song1

1Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China, 2Core Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, China

Mon(2)-O5-3

Unique biochemical alterations in patients with neonatal intrahepatic cholestasis caused by citrin deficiency: A comparison with congenital biliary atresia and idiopathic infantile cholestasisWei-Xia Lin1, Mei Deng1, Li Guo1, Feng-Ping Chen2, Yuan-Zong Song1

1Department of Pediatrics, the First Affiliated Hospital, Jinan University, Guangzhou, China, 2Department of Laboratory Science, the First Affiliated Hospital, Jinan University, Guangzhou, China

Mon(2)-O5-4

The Common and Rare Variants of UGT1A1 in Neonatal Hyperbilirubinemia in Indonesian PopulationDewi A Wisnumurti1, Yunia Sribudiani2, Robert M Porsch3, Ani M Maskoen2, Sri E Rahayuningsih4, Eni K Asni5, Frank Sleutels6, Christel Kockx6, Wilfred van Ijcken6, Abdurachman Sukadi7, Tri H Achmad2

1Neonatology Subdivision, Departement of Pediatric, Arifin Achmad General Hospital, Pekanbaru, Indonesia, 2Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia, 3Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, 4Cardiology Sub division, Department of Pediatric, Dr. Hasan Sadikin Hospital, Bandung, Indonesia, 5Department of Biochemistry, Faculty of Medicine, Universitas Riau, Riau, Indonesia, 6Biomics Center, Erasmus Medical Center, Rotterdam, The Netherlands, 7Neonatology Subdivision, Departement of Pediatric, Dr. Hasan Sadikin Hospital, Bandung, Indonesia

ICHG2016

84

Mon(2)-O5-5

Molecular Diagnosis of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency by Analyzing SLC25A13 Gene and Its Transcripts in Peripheral Blood Mononuclear CellsYuan-Zong Song1, Zhan-Hui Zhang2, Wei-Xia Lin1, Qi-Qi Zheng1, Man Mao3, Ying Cheng1, Han-Shi Zeng1, Shu-Tao Zhao1, Feng-Ping Chen3, Wang-Rong Wen3

1Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China, 2Core Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, China, 3Department of Laboratory Science, The First Affiliated Hospital, Jinan University, Guangzhou, China

Mon(2)-O5-6

GATA binding protein 2 (GATA2) mutation identified in a Japanese patient with adult-onset pulmonary alveolar proteinosisRyushi Tazawa1, Ryota Sato2, Masayuki Ito1, Amy P Hsu3, Shinobu Akagawa2, Yuko Ito2, Jun Tohyama1,4, Akira Hebisawa2, Ken Ohta2, Koh Nakata1

1Niigata University Medical and Dental Hospital, Japan, 2NHO Tokyo Hospital, 3National Institute of Allergy and Infectious Diseases, NIH, 4NHO Nishi-Niigata Chuo Hospital

18:00-19:30 Room B-2

O6 Concurrent Oral Session 6 "Complex Traits and Polygenic Disorders 1"

Chairs: Margaret Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, USA

Lin HeHuman Neuropsychiatric Genetics Group of Shanghai Jiao Tong University & China Academy of Sciences, China

Mon(2)-O6-1

A novel regulatory variant of FADS1 determines binding of PATZ1 and is associated with metabolic and inflammatory diseasesClaes Wadelius, Adam Ameur, Stefan Enroth, Madhusudhan Bysani, Helena Nord, Marco Cavalli, Magnus Essand, Ulf Gyllensten, Gang PanImmunology, Genetics and Pathology, Uppsala University, Sweden

Mon(2)-O6-2

A meta-analysis of genome-wide association studies for diabetic nephropathy in Japanese patients with type 2 diabetesMakiko Taira1, Minako Imamura1, Atsushi Takahashi2,4, Yoichiro Kamatani2, Michiaki Kubo3, Shiro Maeda1,5

1Laboratory for Endocrinology, Metabolism and Kidney Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 2Laboratory for Statistical Analysis, RIKEN, Center for Integrative Medical Sciences, Yokohama, Japan, 3Laboratory for Genotyping Development, RIKEN, Center for Integrative Medical Sciences, Yokohama, Japan, 4Laboratory for Omics Informatics Omics Research Center, National Cerebral And Cardiovascular Center, Osaka, Japan, 5Department of Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan

Mon(2)-O6-3

HETEROZYGOUS CONNEXIN50 MUTATION LOWERS BLOOD LIPIDS AND AFFECTS TRANSCRIPTOME IN HEART AND KIDNEY IN A RAT MODELOndrej Seda, Lucie Sedova, Frantisek Liska, Michaela Krupkova, Drahomira Krenova, Vladimir KrenInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Czech Republic

Program

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Mon(2)-O6-4

Gaining mechanistic insights at type 2 diabetes and glycemic trait association loci by integration with human pancreatic islet transcriptome and regulatory informationMartijn van de Bunt1,2, Robert G Legg1, Jocelyn E Manning-Fox3, Amy Barrett1,2, Amanda J Bennett1,2, Emmanouil T Dermitzakis4,5,6, Patrick E MacDonald3, Anna L Gloyn1,2,7, Mark I McCarthy1,2,7

1Wellcome Trust Centre for Human Genetics, University of Oxford, UK, 2Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, 3Alberta Diabetes Institute, Li Ka Shing Centre, University of Alberta, 4Department of Genetic Medicine and Development, University of Geneva, 5Institute for Genetics and Genomics in Geneva, University of Geneva, 6Swiss Institute of Bioinformatics, Geneva, 7Oxford NIHR Biomedical Research Centre, University of Oxford

Mon(2)-O6-5

Large scale exome array meta-analyses identify numerous novel common, low-frequency, and rare coding variants associated with glycaemic traitsHidetoshi Kitajima, Meta-Analyses of Glucose and Insulin-related traits ConsortiumWellcome Trust Centre for Human Genetics, University of Oxford, UK

Mon(2)-O6-6

Large-scale exome chip association analysis identifies novel type 2 diabetes susceptibility loci and highlights candidate effector genesAnubha Mahajan, on behalf of the ExT2D Exome Chip Consortium, for PROMIS, CHARGE and T2D-GENES / GoT2DWTCHG, University of Oxford, UK

18:00-19:30 Room C-1

O7 Concurrent Oral Session 7 "Molecular Basis of Mendelian Disorders 1"

Chairs: John ChristodoulouNeurodevelopmental Genomics Research Unit, Murdoch Childrens Research Institute, Australia

Mariko Taniguchi-IkedaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Japan

Mon(2)-O7-1

A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V)Toshitaka Kawarai1, Ryosuke Miyamoto1, Yukiko Kuroda2, Masatoshi Omoto3, Morio Ueyama4, Nagahisa Murakami1, Takahiro Furukawa1, Ryosuke Oki1, Atsuko Mori1, Yusuke Osaki1, Chimeglkham Banzrai1, Hiroyuki Nodera1, Antonio Orlacchio5,6, Akihiro Hashiguchi7, Yujiro Higuchi7, Hiroshi Takashima7, Takashi Kanda3, Yuishin Izumi1, Yoshitaka Nagai4, Takao Mitsui2, Ryuji Kaji11Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Japan, 2Department of Clinical Research, Tokushima National Hospital, National Hospital Organization, Tokushima, Japan, 3Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, 4Department of Degenerative Neurological Diseases, National Institute of Neuroscience National Center of Neurology and Psychiatry, 5Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy, 6Dipartimento di Medicina dei Sistemi, Universita di Roma Tor Vergata, Rome, Italy, 7Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

ICHG2016

86

Mon(2)-O7-2

Genetic profile for suspected dysferlinopathy identified by targeted next generation sequencingNaoki Suzuki1, Rumiko Izumi1,2, Tetsuya Niihori2, Toshiaki Takahashi3, Maki Tateyama4, Chigusa Watanabe5, Kazuma Sugie6, Hirotaka Nakanishi7, Gen Sobue8, Masaaki Kato1, Hiroshi Warita1, Yoko Aoki2, Masashi Aoki11Neurology, Tohoku University, Japan, 2Medical Genetics, Tohoku University, 3Department of Neurology, National Hospital Organization Sendai-Nishitaga National Hospital, 4Departments of Neurology, Iwate National Hospital, 5Department of Neurology, Hiroshima-Nishi medical center, 6Department of Neurology, Nara medical university, 7Department of Neurology, Nagoya University Graduate School of Medicine, 8Research Division for Neurodegeneration and Dementia, Nagoya University Graduate School of Medicine

Mon(2)-O7-3

Plastin 3, a human protective modifier is highly upregulated in iPSC-derived motoneurons in asymptomatic SMN1-deteted individuals and rescues spinal muscular atrophy in miceBrunhilde Wirth1, Miriam Peters1, Ludwig Heesen1,2, Seyyed Mohsen Hosseini Barkooie1, Mihael Peitz2,3, Anna Kaczmarek1, Eva Janzen1, Laura Torres Benito1, Oliver Brüstle2,3

1Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, 2Institute of Reconstructive Neurobiology, LIFE & BRAIN Center, University of Bonn and Hertie Foundation, Bonn, Germany, 3DZNE, German Center for Neurodegenerative Diseases, Bonn, Germany

Mon(2)-O7-4

Evaluating biomarkers and natural history of Fukuyama Congenital Muscular DystrophyMariko Taniguchi-Ikeda1,2, Risa Harada3, Ai Unzaki1, Tatsuya Nishii4, Hiroyuki Awano1, Lee Tomoko5, Yasuhiro Takeshima5, Kazuhiro Kobayashi2, Ichiro Morioka1, Kazumoto Iijima1, Tatsushi Toda2

1Department of Pediatrics, Kobe University Graduate School of Medicine, Japan, 2Department of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, 3Department of Rehabilitation,Kobe University Graduate School of Medicine, 4Department of Radiology,Kobe University Graduate School of Medicine, 5Department of Pediatrics, Hyogo Medical College

Mon(2)-O7-5

Mutation in hnRNPA1 causes isolated inclusion body myopathy in two families with multisystem proteinopathyRumiko Izumi1,2, Hitoshi Warita1, Tetsuya Niihori2, Toshiaki Takahashi3, Maki Tateyama1, Naoki Suzuki1, Ayumi Nishiyama1,2, Matsuyuki Shirota4, Ryo Funayama5, Keiko Nakayama5, Satomi Mitsuhashi6, Ichizo Nishino6, Yoko Aoki2, Masashi Aoki11the Department of Neurology, Tohoku University Graduate School of Medicine, Japan, 2the Departments of Medical Genetics, Tohoku University Graduate School of Medicine, 3the Department of Neurology, National Hospital Organization Sendai-Nishitaga National Hospital, 4the Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 5the Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) and Department of Genome Medicine Development, Medical Genome Center, NCNP

Mon(2)-O7-6

Biophysical characteristics of GJB1 mutations and the correlation with clinical phenotypes of Charcot-Marie-Tooth disease type X1Yo-Tsen Liu1,2, Pei-Chien Tsai1,2,3, De-Ming Yang4,5, Tai-Yu Chiu4,5, Yu-Ping Su6, Yi-Chu Liao1,2, Bing-Wen Soong1,2,3, Kon-Ping Lin1,2, Yi-Chung Lee1,2,3

1Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, 2Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, 3Brain Research Center, National Yang-Ming University, Taipei, Taiwan, 4Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan, 5Biophotonics Interdisciplinary Research Center, National Yang-Ming University, Taipei, Taiwan, 6Department of Psychiatry, Cathay General Hospital, Taipei, Taiwan

Program

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18:00-19:30 Room C-2

O8 Concurrent Oral Session 8 "Metabolic Disorders 1"

Chairs: David ThorburnGenetics Theme, Murdoch Childrens Research Institute, Australia

Akira OhtakePediatrics, Saitama Medical University, Japan

Mon(2)-O8-1

A mitochondrial tRNA modopathy due to QRSL1 mutations causes infantile mitochondrial diseaseNana Akiyama1, Kei Murayama2, Masaru Shimura2, Takuya Fushimi2, Keiko Ichimoto2, Masato Mori3, Yoshihito Kishita4, Yoshimi Tokuzawa4, Masakazu Kohda4, Tsutomu Suzuki5, Yasushi Okazaki3, Akira Ohtake6

1Clinical Genetics, Chiba Childrens Hospital, Japan, 2Department of Metabolism, Chiba Childrens Hospital, 3Department of Pediatrics, Matsudo City Hospital, 4Research Center for Genomic Medicine, Saitama Medical University, 5Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 6Department of Pediatrics, Saitama Medical University

Mon(2)-O8-2

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic AciduriaElsebet Ostergaard1, Carol Saunders2,3, Laurie Smith3,4, Flemming Wibrand1, Kirstine Ravn1, Peter Bross5, Isabelle Thiffault3, Mette Christensen1, Andrea Atherton4, Emily Farrow3,4, Neil Miller3, Stephen F Kingsmore2,3,4

1Clinical Genetics, Copenhagen University Hospital, Denmark, 2Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA, 3Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA, 4Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA, 5Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark

Mon(2)-O8-3

A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficienciesMasakazu Kohda1, Yoshimi Tokuzawa1, Kishita Yoshihito1, Yohsuke Moriyama1,2, Yosuke Mizuno1, Tomoko Hirata1, Yukiko Yatsuka1, Yzumi Yamashita1, Yutaka Nakachiy1, Hidemasa Kato1, Shunsuke Tamaru3, Hiromi Nyuzuki1, Nurun Nahar Borna1, Hiroko Harashima4, Taro Yamazaki4, Masato Mori5, Kei Murayama6, Akira Ohtake4, Yasushi Okazaki11Research Center for Genomic Medicine, Saitama Medical University, Japan, 2Department of Anatomy II and Cell Biology, Fujita Health University School of Medicine, 3Department of Obstetrics and Gynecology, Saitama Medical University, 4Department of Pediatrics, Saitama Medical University, 5Department of Pediatrics, Matsudo City Hospital, 6Department of Metabolism, Chiba Children's Hospital

Mon(2)-O8-4

Clinical, Molecular basis and Genetics of Hepatocerebral Mitochondrial DNA Depletion Syndrome in JapanMasaru Shimura1, Kei Murayama1, Takuya Fushimi1, Makiko Tajika1, Keiko Ichimoto1, Masato Mori2, Yoshihito Kishita3, Yoshimi Tokuzawa3, Masakazu Kohda3, Yasushi Okazaki3, Akira Ohtake4

1Department of Metabolism, Chiba Children's Hospital, Japan, 2Department of Pediatrics, Matsudo City Hospital, 3Research Center for Genomic Medicine, Saitama Medical University, 4Department of Pediatrics, Saitama Medical University

ICHG2016

88

Mon(2)-O8-5

Modulation of Mitochondrial Bioenergetics in Fibroblasts Derived From Patients With A3243G Mitochondrial DNA MutationDar-Shong Lin1,2, Che-Sheng Ho2, Hsuan-Liang Liu3, Ming-Fu Chiang4

1Pediatric Genetics, Mackay Memorial Hospital, Taipei, Taiwan, 2Pediatric Neurology, Mackay Memorial Hospital, Taipei, Taiwan, 3Department of Chemical Engineering and Biotechnology, National Taipei University of Technology, Taipei, Taiwan, 4Neurosurgery, Mackay Memorial Hospital, Taipei, Taiwan

Mon(2)-O8-6

Whole exome analysis of mitochondrial respiratory chain disorders: Prenatal genetic diagnosisTaro Yamazaki1, Hiroko Harashima1, Yuichi Abe1, Midori Taniguchi2, Takuya Fushimi2, Keiko Ichimoto2, Yukiko Yatsuka3, Yoshihito Kishita3, Yoshimi Tokuzawa3, Tomoko Hirata4, Masakazu Kohda4, Yasushi Okazaki3,4, Kei Murayama2, Akira Ohtake1

1Pediatrics, Saitama Medical University, Japan, 2Metabolism, Chiba Children's Hospital, 3Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, 4Translational Research, Research Center for Genomic Medicine, Saitama Medical University

18:00-19:30 Room I

O9 Concurrent Oral Session 9 "Psychiatric Genetics, Neurogenetics and Neurodegeneration 1"

Chairs: Bing-Wen SoongNeurology, National Yang-Ming University School of Medicine, Taipei, Taiwan

Hiroyuki TakashimaDepartment of Neurology and Geriatrick, Kagoshima University, Japan

Mon(2)-O9-1

Target genes of transcriptional regulation by Dentatorubral-Pallidoluysian Atrophy protein (DRPLAp) that acts as a transcriptional co-regulatorKeiko Hatano1, Hidetoshi Date1, Hiroyuki Ishiura1, Jun Mitsui1, Jun Goto1,3, Jun Yoshimura2, Koichiro Doi2, Shinichi Morishita2, Shoji Tsuji11Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, 3Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo

Mon(2)-O9-2

Sigmar1 receptor: Genetics, clinical/subclinical investigations and animal and cell models characterisation to dissect the mechanisms of cell death leading to motor neuron diseaseHamid AzzedineInstitute of Neuropathology, Germany

Mon(2)-O9-3

Identification of Long non-coding RNA as a Novel Susceptibility Gene for Non-Familial Hypokalemic Periodic Paralysis by GWASI-Wen Song1, Chih-Chien Sung2, Chien-Hsiun Chen1, Chih-Jen Cheng2, Sung-Sen Yang2, Yi-Chun Chou1, Jenn-Hwai Yang1, Yuan-Tsong Chen1, Shih-Hua Lin2, Jer-Yuarn Wu1

1Institute of Biomedical Sciences, Academia Sinica, Taiwan, 2Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei,Taiwan

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Mon(2)-O9-4

Features of dysferlin mutations in JapanToshiaki Takahashi1, Naoki Suzuki2, Rumiko Izumi2,3, Tetsuya Niihori3, Chikako Yaginuma4, Naoko Shimakura2, Hiroya Ono2, Yasuko Shimosegawa5, Sayaka Taniguchi1, Hideki Oizumi1, Hiroyasu Tanaka1, Masaru Yoshioka1,4, Atsushi Takeda1, Yoko Aoki3, Masashi Aoki11Department of Neurology and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital, Japan, 2Department of Neurology, Tohoku University School of Medicine, 3Department of Medical Genetics, Tohoku University School of Medicine, 4Departments of Clinical Laboratory and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital, 5Departments of Neurosurgery and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga National Hospital

Mon(2)-O9-5

Mutations in CAPN1 Cause Autosomal Recessive Hereditary Spastic ParaplegiaZiv Gan-Or1, Naima Bouslam2, Nazha Birouk2, Alexandra Lissouba3, Daniel Chambers4, Julie Veriepe3, Alaura Androschuck4, Ahmed Bouhouche2, Ali Benomar2, Mohamed Yahyaoui2, Reda Ouazzani2, Grace Yoon5, Nicolas Dupre6, Oksana Suchowersky7, Francois Bolduc4, J Alex Parker3, Patrick A Dion1, Pierre Drapeau3, Guy A Rouleau1, Bouchra O Bencheikh1

1McGill University, Canada, 2Centre Hospitalier Ibn Sina, University; Mohammed V Souissi, Rabat, Morocco, 3Centre de Recherche du Centre Hospitalier de l'Universite; de Montreal (CRCHUM), Montreal, Quebec, Canada, 4Department of Pediatrics, Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada, 5Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada, 6Division of Neurology, CHU de Quebec, and Faculty of Medicine, Laval University, Quebec City, Quebec, Canada, 7Division of Neurology, University of Alberta, Edmonton, Alberta, Canada

Mon(2)-O9-6

Exome sequencing of singletons from individual families revealed a novel causative gene for autosomal recessive hereditary spastic paraplegiaHiroyuki Ishiura1, Jun Mitsui1, Haruo Shimazaki2, Kishin Koh3, Yuta Ichinose3, Yuji Takahashi4, Jun Goto5, Jun Yoshimura6, Koichiro Doi6, Shinichi Morishita6, Hidenao Sasaki7, Yoshihisa Takiyama3, Shoji Tsuji1, JASPAC (Japan Spastic Paraplegia Research Consortium)1Department of Neurology, The University of Tokyo, Japan, 2Department of Neurology, Jichi Medical University, 3Department of Neurology, Yamanashi University, 4Department of Neurology, National Center of Neurology and Psychiatry, 5Department of Neurology, International University of Health and Welfare Mita Hospital, 6Department of Computational Science, Graduate School of Frontier Sciences, The University of Tokyo, 7Department of Neurology, Hokkaido University

18:00-19:30 Room J

O10 Concurrent Oral Session 10 "Development"

Chairs: Andrew McCallionMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, USA

Tadashi KanameGenome Medicine, National Center for Child Health and Development, Japan

Mon(2)-O10-1

Fast and effective genome editing to study dominant de novo mutations: the Wdr45 mouse model for BPANCaroline A. Biagosch1,2, Svenja-Viola Hensler1,2, Dirk Janik3, Frauke Neff3, Lore Becker4,5, Thomas Klopstock4,5, Wolfgang Wurst5,6, Thomas Meitinger1,2, Holger Prokisch1,2

1Institute of Human Genetics, Technische Universitaet Muenchen, Germany, 2Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany, 3Institute of Pathology, Helmholtz Zentrum Muenchen, Germany, 4Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Muenchen, Germany, 5Institute of Experimental Genetics, German Mouse Clinic, Neuherberg, Germany, 6Institute of Developmental Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany

ICHG2016

90

Mon(2)-O10-2

Placental phenotypes of Chst14 -/- fetal mice: a model for vascular manifestations in Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiencyTakahiro Yoshizawa1, Shuji Mizumoto2, Jun Nakayama3, Takuya Hirose4, Kazushige Takehana4, Fengming Yue5, Nana Tsumita6,7, Chiaki Masuda8, Yuko Kasahara8, Yuki Takahashi9, Shin-ichi Takeda7, Takashi Okada8, Kiyoshi Matsumoto1, Tomoki Kosho9

1Division of Laboratory Animal Research, Research Center for Human and Environmental Sciences, Shinshu University, Japan, 2Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 3Department of Molecular Pathology, Shinshu University Graduate School of Medicine, 4Department of Veterinary Pathology, School of Veterinary Medicine, Rakuno Gakuen University, 5Department of Histology and Embryology, Shinshu University School of Medicine, 6Scleroprotein and Leather Research Institute, Tokyo University of Agriculture and Technology, Faculty of Agriculture, 7Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 8Department of Biochemistry and Molecular Biology, Nippon Medical School, 9Department of Medical Genetics, Shinshu University School of Medicine

Mon(2)-O10-3

Critical roles of Rdh10 in craniofacial developmentHiroshi Kurosaka1,2, Qi Wang1, Takashi Yamashiro1, Trainor Paul21Osaka University Graduate School of Dentistry, Japan, 2Stowers Institute for Medical Research

Mon(2)-O10-4

Mutations in components of the endothelin 1-endothelin receptor type A signaling pathway cause homeotic transformations of the first pharyngeal arch in humansJeanne Amiel1, Chris Gordon1, Yukiko Kurihara2, Nicole Weaver3, Roseli Maria Zechi-Ceide4, Myriam Oufadem1, David Weaver5, Howard Saal3, Stanislas Lyonnet1, Hiroki Kurihara2, 1Institut Imagine, France, 2University of Tokyo, 3Cincinnati Children's Hospital Medical Center, 4Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, 5Indiana University School of Medicine

Mon(2)-O10-5

Cell culture model for X-linked disorder: craniofrontonasal dysplasia and severe phenotype in femaleMasanori Sugimoto1, Hidehito Inagaki1, Makiko Tsutsumi1, Yoshikazu Inoue2, Yoshihiro Taguchi2, Hiroko Boda3, Masafumi Miyata3, Takayuki Okumoto2, Tetsushi Yoshikawa3, Hiroki Kurahashi11Division of Molecular Genetics, ICMS, Fujita Health University, Japan, 2Department of Plastic and Reconstructive Surgery, Fujita Health University, 3Department of Pediatrics, Fujita Health University

Mon(2)-O10-6

MicroRNA in human induced pluripotent stem cells lineage specificationLu Li1, Shen Gu2, Yick-Keung Suen1, Hoi-Hung Cheung1, Dan-dan Cao1, Wai-Nok Law1, Wai-Yee Chan1

1The Chinese University of Hong Kong - Chinese Academy of Sciences Guangzhou Institute of Biomedicine and Health Joint Laboratory on Stem Cell and Regenerative Medicine, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, China, 2Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA

Program

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18:00-19:30 Room K

O11 Concurrent Oral Session 11 "Cytogenetics"

Chairs: Ina E. AmarilloCytogenomics and Molecular Path Lab, Division of Lab and Genomic Medicine, Dept. of Pathology and Immunology, Washington University in St. Louis School of Medicine, USA

Keiko WakuiMedical Genetics, Shinshu University School of Medicine, Japan

Mon(2)-O11-1

Finding Small Copy Number Variations (CNVs) and Regions of Homozygosity (ROH) Beneath the Surface: A Retrospective Chromosome Microarray Analysis (CMA) and Genomic-Epigenomic Integration in Disorders of Sex Development (DSD)Ina E Amarillo1,5, Vishwanathan Hucthagowder1,5, Isabelle Nievera2, Drew Hagan3, Jennifer Heeley4, Washington University in St Louis DSD Team1Pathology and Immunology, Washington University in St Louis School of Medicine, USA, 2University College in Washington University in St Louis, 3Department of Developmental Biology, Washington University in St Louis School of Medicine, 4Department of Pediatrics, Washington University in St Louis School of Medicine, 5Cytogenomics and Molecular Pathology Lab

Mon(2)-O11-2

Assessing copy number variants involving the ACMGG secondary finding genes in a clinical pediatric populationJinbo Fan1, Surabhi Mulchandani1, Matthew Dulik1, Jinyun Chen1, Adam Gleason1, Pushkala Jayaraman1, Elaine Zackai2, Mahdi Sarmady1, Minjie Luo1, Nancy Spinner1, Laura Conlin1

1The Department of Pathology and Laboratory Medicine, The Childrens Hospital of Philadelphia, USA, 2Department of Pediatrics, The Childrens Hospital of Philadelphia

Mon(2)-O11-3

Mechanistic Insight into Formation of Chromosomal InsertionsShen Gu1, Przemyslaw Szafranski1, Zeynep H.C. Akdemir1, Bo Yuan1, Maria A. Magrina3, Carlos A. Bacino1,2,6, Seema R. Lalani1,2,6, Amy M. Breman1,2, Janice L. Smith1,2, Ankita Patel1,2, Weimin Bi1,2, Sau Wai Cheung1,2, Claudia M.B. Carvalho1, James R. Lupski1,4,5,6, Pawel Stankiewicz1,2

1Molecular and Human Genetics, Baylor College of Medicine, USA, 2Baylor Miraca Genetics Laboratories, Houston, TX, 3Medical Specialties Unit From City Hall Sao Jose dos Campos, SP, Brazil, 4Department of Pediatrics, Baylor College of Medicine, Houston, TX, 5Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 6Texas Children's Hospital, Houston, TX

Mon(2)-O11-4

Cytogenetic study of Ovotesticular Disorder of Sex Development (OT- DSD) among Egyptian DSD patientsMona K. Mekkawy, Inas M Mazen, Amal M Mohamed, Alaa K KamelHuman Cytogenetics department, National Research Centre, Egypt

ICHG2016

92

Mon(2)-O11-5

Contribution of genomic copy number variations in prenatal oral clefts: a multi-center cohort studyYe CAO1,2, Zhihua LI3, Jill Rosenfeld4, Amber N. Pursley5,6, Ankita Patel5,6, Jin Huang1, Huilin Wang1,2, Xiaofang Sun3, Tak Yeung Leung1,2, Sau Wai Cheung5,6, Richard Kwong Wai Choy1,2,7

1Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, 2Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China, 3Department of Obstetrics and Gynecology, Key laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 4Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA, 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 6Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX, USA, 7Angsana Molecular & Diagnostics Laboratory (HK) Ltd., Hong Kong

Mon(2)-O11-6

Blood SNP-array can replace bone marrow SNP-array in Myelodysplastic Syndrome (MDS) and may be used in place of Karyotype in some patientsSarah Moore1, Christopher N Hahn1,2,3, Monika M Kutyna4, Rosalie Kenyon5, Rachel Fraser1, Rakccha Chhetri4, Deepak Singhal4, Ian Lewis4, Peter Bardy4, Luen B To4, Hamish S Scott1,3,6,7

1Genetics and Molecular Pathology, SA Pathology, Australia, 2Centre for Cancer Biology, SA Pathology, 3School of Medicine, University of Adelaide, 4Haematology Directorate, SA Pathology, 5Australian Cancer Research Foundation Cancer Genomics Facility, 6School of Biological Sciences, University of Adelaide, 7School of Pharmacy and Medical Science, University of South Australia

18:00-19:30 Room H

O12 Concurrent Oral Session 12 "Statistical Genetics and Genetic Epidemiology 1"

Chairs: Suzanne M. LealDepartment of Molecular and Human Genetics, Baylor College of Medicine, USA

Taesung ParkStatistics, Seoul National University, Korea, South

Mon(2)-O12-1

Collapsed Methylation Quantitative Trait Loci analysis for Low Frequency and Rare variantsTom G Richardson1, Hashem A Shihab1, Gibran Hemani1, Jie Zheng1, Oliver Lyttleton2, Wendy L McArdle2, Susan M Ring2, Santiago Rodriguez3, Colin Campbell4, George Davey Smith1, Caroline L Relton1, Nicholas J Timpson1, Tom R Gaunt1

1MRC Integrative Epidemiology Unit, University of Bristol, UK, 2Avon Longitudinal Study of Parents and Children (ALSPAC), University of Bristol, 3Bristol Genetic Epidemiology Laboratories, University of Bristol, 4Intelligent Systems Laboratory, University of Bristol

Mon(2)-O12-2

A statistical approach for testing cross-phenotype effects of rare variantsMichael P Epstein1, Kelsy A Broadaway1, David J Cutler1, Richard Duncan1, Jacob Moore2, Erin B Ware3, Min A Jhun3, Lawrence F Bielak3, Wei Zhao3, Jennifer Smith3, Jennifer A Smith3, Sharon Kardia3, Debashis Ghosh4

1Human Genetics, Emory University, USA, 2Evolution and Ecology, UC-Davis, 3Epidemiology, University of Michigan, 4Bioinformatics and Informatics, Colorado School of Public Health

Program

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Mon(2)-O12-3

Pitfalls in the development of statistical methods for rare variant association studiesSuzanne M Leal, Gao T WangMolecular and Human Genetics, Baylor College of Medicine, USA

Mon(2)-O12-4

Pathway-based association tests for rare variants using hierarchical structuresSungkyoung Choi1, Sungyoung Lee1, Heungsun Hwang2, Taesung Park1,3

1Interdisciplinary Program in bioinformatics, Seoul National University, Korea, South, 2Department of Psychology, McGill University, 3Department of Statistics Seoul National University

Mon(2)-O12-5

Increased power for detection of parent-of-origin effects via the use of haplotype estimationRichard A. J. Howey1, Chrysovalanto Mamasoula1,2, Ana Töpf1, Ron Nudel3, Dianne F. Newbury3, Simon E. Fisher4,5, Judith A. Goodship1, Bernard D. Keavney1,6, Heather J. Cordell11Institute of Genetic Medicine, Newcastle University, UK, 2Institute of Health and Society, Newcastle University, 3Wellcome Trust Centre for Human Genetics, University of Oxford, 4Max Planck Institute for Psycholinguistics, Nijmegen, 5Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6Institute of Cardiovascular Sciences, University of Manchester

Mon(2)-O12-6

FINEMAP: Ultrafast high-resolution fine-mapping using summary data from genome-wide association studiesChristian Benner1,2, Chris Spencer3, Samuli Ripatti1,2,4, Matti Pirinen1

1Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, 2Department of Public Health, University of Helsinki, Helsinki, Finland, 3Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK, 4Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

ICHG2016

94

Cancer Genetics 1

Mon(2)-P-1

TP53 gene status in patients with Diffuse large B-cells lymphoma

Elena Voropaeva1, Tatiana Pospelova2, Mikhail Voevoda1, Vladimir Maximov1

1Institute of Therapy and Preventive Medicine, Russia, 2Novosibirsk State Medical University

Mon(2)-P-2

Next generation sequencing-based cancer precision medicine is on the horizon now !

Shuolin Song1, Tadashi Kaname2, Sumio Sugano3

1Roche Diagnostics K.K., Japan, 2National Center for Child Health and Development, 3The University of Tokyo

Mon(2)-P-3

Germline mutation and IHC result of MLH1 and MSH2 in young-onset nonpolyposis colorectal cancer in Thai families: Two novel germline mutations of MLH1 in two siblings and a novel mutation of MSH2

Atchara Tunteeratum1, Artit Jinawath2, Chanon Kunasol1, Natini Jinawath3, Jakrise Eu-ahsunthornwattana1, Manisa Busabaratana1, Kanoknan Srichan1, Thanyachai Sura1

1Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Thailand, 2Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 3Research center, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Mon(2)-P-4

Low grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma: studies on impact of gene fusions on gene expression profile and tumor development

Elsa Arbajian, Linda Magnusson, Jenny Nilsson, Karolin Hansén Nord, Fredrik MertensClinical Genetics, Lund University, Sweden

Mon(2)-P-5

Pediatric individualized dosing of Cyclophosphamide using Pharmacogenetics of CYP2B6 as a response-biomarker in Rhabdomyosarcoma Egyptian Patients

Rania M Labib1,2, Enas Elnadi3,4, Dina Yassin5, Mohamed E.A Abdelrahim2

1Research, Children's Cancer Hospital, Egypt, 2Clinical Pharmacy, Faculty of Pharmacy, Beni Suef University, Beni Suef, Egypt, 3Pediatric Oncology, Children's Cancer Hospital-Egypt, 4Pediatric Oncology, Beni Suef University faculty of medicine, Beni Suef, Egypt, 5Molecular Biology, Children's Cancer Hospital-Egypt, Cairo, Egypt

Mon(2)-P-7

The ESR1 Gene rs1801132 variation and Breast Cancer risk in Iran

Sakineh Abbasi1, Samira Kalbasi21Tehran University of Medical Sciences, Tehran, Iran, 2University of Tehran, Tehran, Iran

Mon(2)-P-8

To Investigate the Mechanism and Function of Nucleobindin-2 in Human Hepatoma Cells

Jui-Hsiang Hung1,3, Ren-Hao Li1, Kuan-Han Lee2,3

1Department of Biotechnology, Chia Nan University of Pharmacy and Science, Tainan, Taiwan, 2Institute of Pharmacy, Chia Nan University of Pharmacy and Science, Tainan, Taiwan, 3Drug Discovery and Development Center, Chia Nan University of Pharmacy and Science, Tainan, Taiwan

Mon(2)-P-9

Drug Metabolizing Enzymes Polymorphisms May Determine Response and Toxicity of Chemotherapy based Treatment in Breast Cancer Patients: a North Indian Study

Sonam Tulsyan1, Gaurav Agarwal2, Punita Lal3, Balraj Mittal11Genetics, SGPGIMS, India, 2Endocrine & Breast Surgery, SGPGIMS, 3Radiotherapy, SGPGIMS

Mon(2)-P-10

Integrated miRNA and mRNA expression profiling to identify biomarkers for response to treatment in rectal cancer

Marta Cuadros1, Carlos Cano4, Raquel Conde5, Antonio Herrera2,3, Ana Comino5, Victoria Sanchez1,3, Pedro Medina2,3, Pablo Palma5

1Department of Biochemistry and Molecular Biology III e Immunology, Medicine College, University of Granada, Spain, 2Department of Biochemistry and Molecular Biology II, University of Granada, 3GENYO, Centre for Genomics and Oncological Research: Pfizer/University of de Granada/Junta de Andalucía, Granada, 4Department of Computer Science and Artificial Intelligence, University of Granada, 5Division of Colon & Rectal Surgery, Department of Surgical Research, Virgen de las Nieves Hospital, Granada

Poster SessionMonday, April 4 19:40-20:40

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Mon(2)-P-12

Modification of association between polymorphism in genes UGT1A6 and PAFAH1B2 with colorectal cancer risk by aspirin use

Harsh Sheth1, Emma Northwood2, Faye Elliott2, Jennifer Barrett2, Cornelia M. Ulrich3, Michael S. Jackson1, Mauro Santibanez-Koref1, Michelle Cotterchio4, Robert Haile5, Graham Casey6, Mark Jenkins7, John Hopper7, Noralane Lindor8, Polly A. Newcomb9, John Burn1, David Timothy Bishop2

1Institute of Genetic Medicine, Newcastle University, UK, 2Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK, 3Huntsman Cancer Institute, University of Utah, Salt Lake City, USA, 4Cancer Care Ontario, Toronto, Canada, 5Stanford Cancer Institute, Stanford, California, USA, 6University of Southern California, Los Angeles, California, USA, 7The University of Melbourne, Carlton, Australia, 8Mayo Clinic, Rochester, Minnesota, USA, 9Fred Hutchinson Cancer Research Center, Seattle, Washington, USA

Mon(2)-P-13

A germline RAD51C duplication in breast and ovarian cancer

Liisa M. Pelttari1, Anders Kvist2, Ake Borg2, Carl Blomqvist3, Ralf Butzow1,4, Kristiina Aittomaki5, Heli Nevanlinna1

1Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, 2Department of Clinical Sciences, Division of Oncology and Pathology, Lund University, Lund, Sweden, 3Department of Oncology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, 4Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, 5Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Mon(2)-P-14

Cytogenetic and molecular assessment of oral cancer risk in smokeless tobacco users and their association with socio economic strategies

Ramachandran Chandirasekar1,2, K Murugan1, B Lakshman Kumar3, R Jayakumar4, V Uthayakumar1,2

1Department of Zoology, Bharathiar University, India, 2PG and Research Department of Zoology Sri Vasavi College Erode, India, 3Department of Biotechnology, Kongunadu arts and science college, Coimbatore - 641 046, 4Department of Molecular medicine, Faculty of medicine, University of Malaysia, Kuala Lumpur, Malaysia

Mon(2)-P-15

The association of patatin-like phospholipase domain-containing protein 3 polymorphism with the development and prognosis of hepatocellular carcinoma in Thai population

Pisit Tangkijvanich1, Apichaya Khlaiphuengsin1, Natthaya Chuaypen1, Rattanaporn Kiatbumrung1, Sunchai Payungporn1, Nutcha Pinjaroen2

1Research Unit of Hepatitis and Liver Cancer, Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Thailand, 2Department of Radiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Mon(2)-P-16

Circulating MicroRNAs as Potential Biomarkers in Hepatocellular Carcinoma

Yu Jin1, Guat Lay Lee1,2,3

1National Cancer Centre Singapore, Singapore, 2National University of Singapore, 3Duke-NUS Graduate Medical School Singapore

Mon(2)-P-17

FANCM c.5101C>T mutation and breast cancer survival

Johanna I. Kiiski1, Anna Tervasmaki2,3, Rainer Fagerholm1, Sofia Khan1, Liisa M Pelttari1, Tuomo Mantere2,3, Katri Pylkas2,3, Arto Mannermaa4,5, Robert Winqvist2,3, Anne Kallioniemi6, Kristiina Aittomaki7, Carl Blomqvist8, Heli Nevanlinna1

1Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Finland, 2Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Finland, 3Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre, NordLab, Oulu, Finland, 4School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, and Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland, 5Imaging Center, Clinical Pathology, Kuopio University Hospital, Kuopio, Finland, 6BioMediTech, University of Tampere and Fimlab Laboratories, Tampere, Finland, 7Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, 8Department of Oncology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Mon(2)-P-18

Fine mapping of nasopharyngeal carcinoma susceptible region discovered by genome-wide association study

Wen-Hui Su1, Chi-Ching Chiu1, Kai-Ping Chang2

1Dept. of Biomedical Sciences, Chang Gung University, Taiwan, 2Department of Otolaryngology, Head and Neck Surgery, Chang Gung Memorial Hospital at Lin-Kou

Mon(2)-P-19

Polymorphism in chromosome 5 is associated with survival specifically among breast cancer patients treated with endocrine therapy

Sofia Khan1, Rainer Fagerholm1, Perunthadambil Kadalayil2, William Tapper2, Kristiina Aittomaki3, Jianjun Liu4, Diana Eccles2, Carl Blomqvist5, Heli Nevanlinna1

1Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, 2Faculty of Medicine, University of Southampton, Southampton General Hospital, Hants, United Kingdom, 3Department of Clinical Genetics, Helsinki University Hospital and Genome Scale Biology Research Program, University of Helsinki, Helsinki, Finland, 4Human Genetics, Genome Institute of Singapore, Singapore, 5Department of Oncology, Helsinki University Hospital, Helsinki, Finland

ICHG2016

96

Mon(2)-P-20

Gene expression and relapse of superficial cell carcinoma. A microarray analysis

Jaroslav Mares1, Marcela Klabanova2, Jaroslava Duskova3, Ales Horinek3, Marek Babjuk1

1Inst. Biol. Med. Genet., 2nd Faculty of Medicine, Charles University, Czech Republic, 2Diana Lucina, 31st Faculty of Medicine, Charles University

Mon(2)-P-21

Effect of Paclitaxel on miRNA expression in prostate cancer

Murat Samli1, Hale Samli2, Buse Vatansever2, Nazlihan Aztopal2, Deniz Dincel2, Ahmet Sahin1, Faruk Balci21Department of Urology, Acibadem University, Turkey, 2Genetic, Uludag University

Mon(2)-P-22

Analysis of cytogenetic alterations and polymorphism in MTHFR gene of Colorectal Cancer patients in Indian population

Vellingiri Balachandar1, Krishnan Padmavathi1, SN Dharwadkar3, Keshavarao Sasikala2

1Human Genetics and Molecular Biology, Bharathiar University, India, 2Human Molecular Genetics Laboratory, Department of Zoology, Bharathiar University, 3KLE University, Bangalore, India

Mon(2)-P-23

Identification of Genetics alterations in Colorectal Cancer Patients in Coimbatore Population, South India

Dhivya Venkatesan, Kuchi Bhotla Haripriya, Subramium Mohana Devi, Keshavarao Sasikala, Balachandar VellingiriDepartment of Human Genetics and Molecular Biology, Bharathiar University, India

Mon(2)-P-24

Detection of BRCA1 gene polymorphism in Breast Cancer Patients in South Indian population

Balasubramanian Venkatesh1,2, P Mani4, Vellingiri Balachandar1, Keshavarao Sasikala3

1Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu, India, 2Department of Microbial biotechnology, Bharathiar University, Coimbatore, India, 3Human Molecular Genetics Laboratory, Department of Zoology, School of Life Sciences, Bharathiar University, Coimbatore, Tamilnadu, India, 4SIMPRA (sharmila institute of medicinal products research academy) #203/2, medical college road, thanjavur, tamilnadu, India.

Mon(2)-P-25

Association of MYCN status with certain prognosis factors of neuroblastomas

Quang Dinh Vu1, Ngoc Diem Ngo1, Huy Xuan Nguyen1, Lan Tuyet Phung2, Son Ngoc Tran3, Cong Dinh Le4, Thach Ngoc Hoang5, Mai Thi Chi Tran6, Van Thi Hong Nguyen7

1Human Genetics Department, National Hospital of Pediatrics, Vietnam, 2Oncology Department, National Hospital of Pediatrics, 3Surgery Department, National Hospital of Pediatrics, 4Radiology Department, National Hospital of Pediatrics, 5Pathology Department, National Hospital of Pediatrics, 6Biochemistry Department, National Hospital of Pediatrics, 7Genetics Department, Biology Faculty, Hanoi University of Sciences HUS

Mon(2)-P-26

CYTOGENETIC INVESTIGATION, BIOCHEMICAL ALTERATIONS AND METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE POLYMORPHISM IN BREAST CANCER PATIENTS IN TAMIL NADU POPULATION

Shantkriti S1, Sangeetha Raman2, Senthil Kumar Sadasivam1, Sasikala Keshavarao2, Balachandar Vellingiri31Department of Biotechnology, National College, Tamilnadu, India, 2Human Genetics Laboratory, Department of Zoology, Bharathiar University, Coimbatore, Tamil Nadu, India, 3Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu, India

Mon(2)-P-27

ANO7 is associated with aggressive prostate cancer

Elina Kaikkonen1, Hannu-Pekka Schukov1, Gudrun Wahlstrom1, Csilla Sipeky1, Juha-Pekka Pursiheimo1, Vidal Fey1, Peter Bostrom2, Markku Kallajoki3, Pekka Taimen3,4, Pirkko-Liisa Kellokumpu-Lehtinen5, Johanna Schleutker1

1Medical Biochemistry and Genetics, University of Turku, Turku, Finland, 2Department of Urology, Turku University Hospital and University of Turku, Turku, Finland, 3Department of Pathology, Turku University Hospital, Turku, Finland, 4Department of Pathology, University of Turku, Turku, Finland, 5School of Medicine, University of Tampere and Tampere University Hospital, Tampere, Finland

Mon(2)-P-28

Three microRNAs are associated with poor prognosis in squamous cell carcinoma of the lung

Sana Yokoi1,2, Endi Xia1,3, Sotaro Kanematsu2, Yusuke Suenaga1, Hitomi Kondo2, Noriko Otsuka2, Yasumitsu Moriya4, Toshihiko Iizasa4, Ichiro Yoshino3

1Cancer Genome Center, Chiba Cancer Center Research Institute, Japan, 2Division of Gene Diagnostics, Chiba Cancer Center, 3Department of General Thoracic Surgery, Graduate School of Medicine, Chiba University, 4Division of Thoracic Diseases, Chiba Cancer Center Hospital

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Mon(2)-P-29

Clinical Significance of MLH1 Methylation and CpG Island Methylator Phenotype as Prognostic Markers in Patients with Gastric Cancer

Yoshiko Mori1,2, Kunitoshi Shigeyasu1, Takeshi Nagasaka1, Shinichi Toyooka2,3, Toshiyoshi Fujiwara1

1Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan, 2Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 3General Thoracic Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences

Mon(2)-P-31

Discovery of a gene alteration that causes clear cell carcinoma of the ovary

Yusuke Shibuya1, Hideki Tokunaga1, Jun Yasuda2, Sakae Saito2, Bin Li1, Nobuo Yaegashi11Department of Obstetrics and Gynecology, Tohoku University Hospital, Japan, 2Department of Integrative Genomics, Tohoku Medical Megabank Organization

Mon(2)-P-32

Identification of transcriptomic signatures in multiple myeloma using single cell RNA-sequencing

Da-eun Ryu1,2, Hae-Ock Lee2,4, Kihyun Kim3, Woong-Yang Park2,4

1Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Korea, South, 2Samsung Genome Institute, 3Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, 4Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine

Mon(2)-P-33

FRY Pancreas-Specific Methylation and Clinical Application

Nakarin Kitkumthorn1, Ratakorn Srisuttee2, Somboon Keelawat3, Phonthep Angsuwatcharakon2, Apiwat Mutirangura2

1Oral Biology, Faculty of Dentistry, Mahidol University, Thailand, 2Anatomy, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 3Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Mon(2)-P-34

Chromosome 3p rearrangement and BAP1 mutations in renal cell carcinomas and malignant mesotheliomas

Tomoko Hashimoto-Tamaoki1,4, Yoshie Yoshikawa1, Yoshikazu Togo2, Masataka Zozumi3, Chika Sato4, Seiichi Hirota3, Shingo Yamamoto2

1Department of Genetics, Hyogo College of Medicine, Japan, 2Department of Urology, Hyogo College of Medicine, Hyogo, Japan, 3Division of Surgical Pathology, Department of Pathology, Hyogo, Japan, 4Department of Clinical Genetics, Hyogo College of Medicine, Hyogo, Japan

Mon(2)-P-35

Functional Characterization of Coexistent KRAS/PIK3CA and NRAS/PIK3CA Mutations in Colorectal Cancer

Joshua Reginald P. Malapit, Andrea Francesca M. Salvador, Reynaldo L. GarciaDisease Molecular Biology and Epigenetics Laboratory, National Institute of Molecular Biology and Biotechnology, University of the Philippines - Diliman, Philippines

Mon(2)-P-36

Thyrotropin-releasing hormone (TRH) methylation in squamous cell carcinoma

Kanwalat Chalertpet1, Nakarin Kitkumthorn2, Somboon Keelawat3, Apiwat Mutirangura4,5

1Biomedical Sciences, Chulalongkorn University, Thailand, 2Department of Oral Biology, Faculty of Dentistry, Bangkok, Thailand, 3Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 4Department of Anatomy, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 5Center for Excellence in Molecular Genetics of Cancer and Human Diseases, Chulalongkorn University, Bangkok, Thailand

Mon(2)-P-37

Characterization of UROC3 as a novel prognostic biomarker and therapeutic target for oral cancer

Thang Manh Phung1,2, Atsushi Takano1,2, Yoshihiro Yoshitake3, Masanori Shinohara3, Yoshinori Murakami4, Yataro Daigo1,2

1Center for Antibody and Vaccine Therapy, Research Hospital, The Institute of Medical Science, The University of Tokyo, Japan, 2Department of Medical Oncology and Cancer Center, Shiga University of Medical Science, 3Department of Oral and Maxillofacial Surgery of Kumamoto University, 4Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo

Mon(2)-P-38

Not HOXB13 p.G84E, but p.R217C appears to be associated with increased breast cancer risk in the Dutch population

Margriet Collee1, Jingjing Liu2, Wendy J.C. Prager-van der Smissen2, Marjanka K. Schmidt3, Sten Cornelissen3, Roy Lamping1, Anja Nieuwlaat1, John A. Foekens2, Maartje J. Hooning2, Senno Verhoef4, Ans W.M. van den Ouweland1, Frans B.L. Hogervorst4, John W.M. Martens2,5, Antoinette Hollestelle2

1Department of Clinical Genetics, Erasmus MC Cancer Institute, Rotterdam, The Netherlands, 2Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands, 3Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam. The Netherlands, 4Division of Diagnostic Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands, 5Cancer Genomics, The Netherlands

ICHG2016

98

Mon(2)-P-39

Leukemia Inhibitory Factor (LIF) plays a role in Chordoma Progression

Ozlem Silan Coskun1, Sukru Gulluoglu1,2, Ozlem Turksoy1, Aysegul Kuskucu2, Omer Faruk Bayrak2

1Biotechnology, Yeditepe University, Turkey, 2Medical Genetics

Mon(2)-P-40

Microsatellite instability, hMLH1 methylation and BRAF V600E mutation in sporadic colorectal cancer

Loraine Kay D Cabral1, Ma. Luisa D Enriquez1,2, The Colorectal Cancer Study Group-St. Luke's Medical Center1Research and Biotechnology, St. Luke's Medical Center, Philippines, 2Department of Biology, CENSER, De La Salle University, Manila

Mon(2)-P-41

A Cancer-SNP-Panel-based case-control study of genetic susceptibility to cancer in Thai individuals

Jakris Eu-ahsunthornwattana1, Juthamat Kunnatham2, Nathanon Borisut2, Natini Jinawath3, Thanyachai Sura1

1Div of Medical Genetics, Dept of Internal Medicine, Ramathibodi Hospital, Mahidol University, Thailand, 2Faculty of Public Health, Mahidol University, 3Program in Translational Medicine, Ramathibodi Hospital, Mahidol University

Mon(2)-P-42

Functional Sequelae of the Novel NRAS Mutation E132K

Ryan Timothy D. Yu1, Robert Lorenz C. Chua1,2, Reynaldo L. Garcia1, Joshua P. Malapit1, Jose Lorenzo M. Ferrer1

1National Institute of Molecular Biology and Biotechnology, University of the Philippines Diliman, Philippines, 2University of Gottingen

Mon(2)-P-43

POLYMORPHISMS IN FOLATE METABOLIZING GENES AMONG CANCER PATIENTS FROM WEST UKRAINE

Iryna Dmytruk, Halyna Makukh, Lilya Chorna, Nataliya KitseraSI Institute of hereditary pathology NAMS of Ukraine, Ukraine

Mon(2)-P-44

Investigations on the effects of miRSNPs on the tumor suppressive capacity of PTEN

Mia Helena B Reisland, Kenneth Anthony R Roquid, Reynaldo L GarciaDisease Molecular Biology and Epigenetics Laboratory, National Institute of Molecular Biology and Biotechnology, Philippines

Mon(2)-P-45

Functional Characterization of the Rare BRAF Mutations R462G and T440A

Kevin Kent Vincent C Canlas, Reynaldo L GarciaNational Institute of Molecular Biology and Biotechnology, Disease Molecular Biology and Epigenetics Laboratory, Philippines

Mon(2)-P-46

Phenotypic Characterization of the Putative KRAS mutant E31D

Jonathan P Chan, Arlou Kristina J Angeles, Reynaldo L Garcia, Robert Lorenz C Chua, Joshua Reginald P MalapitNational Institute of Molecular Biology and Biotechnology, University of the Philippines Diliman, Philippines

Mon(2)-P-47

Phenotypic Characterization of the Putative Oncogenic PIK3CA Mutants Q661K and C901R

Arman A Ghodsinia, Reynaldo L Garcia, Robert Lorenz Chua, Joshua MalapitNational Institute of Molecular Biology and Biotechnology, University of the Philippines-Diliman, Philippines

Mon(2)-P-48

Evaluation of genome-wide association study-identified SNPs at 4q12, 17q12, and 6p21.32 with cervical cancer susceptibility in a Japanese population

Kiyonori Miura1, Hiroyuki Mishima2, Shuhei Abe1, Yuko Murakami1, Naoki Fuchi1, Ai Higashijima1, Yuri Hasegawa1, Shoko Miura1, Masako Masuzaki1, Masanori Kaneuchi1, Koichiro Yoshiura2, Hideaki Masuzaki11Obstetrics and Gynecology, Nagasaki University, Japan, 2Human Genetics, Nagasaki University School of Medicine

Mon(2)-P-49

Genome-wide association study identified three copy number polymorphisms associated with sporadic colorectal cancer risk in Singapore Chinese

LaiFun Thean1, Peh Yean Cheah1,2,3, Yik Ying Teo2, Woon Puay Koh2,3, Jian Min Yuan4, Choong Leong Tang1, Min Hoe Chew1

1Singapore General Hospital, Singapore, 2National University of Singapore, 3Duke-NUS Graduate Medical School Singapore, 4University of Pittsburgh

Mon(2)-P-50

Cytogenetic abnormalities of 100 ALL patients by FISH detection and conventional karyotype analysis

Emin Karaca, Ayca Aykut, Burak Durmaz, Asude Durmaz, Hilmi Polat, Ozgur Cogulu, Haluk AkinDepartment of Medical Genetics, Ege University Medical Faculty, Turkey

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Mon(2)-P-51

Sensitive Mutation Detection by Sequencing Circulating Cell-Free DNA

Nan FangQIAGEN GmbH, Germany

Mon(2)-P-52

Germline mutations in DNA mismatch repair genes in breast cancer patients

Ann S.G. Lee1,2,3, Melody Sze1, Sandhya Shekar1, Edward SY Wong1, Claire Chan1, Peter Ang4,5

1Division of Medical Sciences, National Cancer Centre, Singapore, 2Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 3Office of Clinical & Academic Faculty Affairs, Duke-NUS Graduate Medical School, Singapore, 4Division of Medical Oncology, National Cancer Centre, Singapore, 5OncoCare Cancer Centre, Mount Elizabeth Novena Specialist Centre, Singapore

Mon(2)-P-53

Up-regulation of non-coding RNAs in adult and pediatric liver cancers

Kosuke Hashimoto1, Ana Maria Suzuki1, Alexandre Dos Santos2, Alessandro Bonetti1, Xian-Yang Qin3, Alexandre Fort1, Bogumil Kaczkowski1, Alistair R.R. Forrest1, Soichi Kojima3, Marie Annick Buendia2, Jamila Faivre2, Piero Carninci11RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa, Japan, 2INSERM, U1193, Paul-Brousse Hospital, Hepatobiliary Centre, Villejuif, France, 3RIKEN Center for Life Science Technologies, Division of Bio-function Dynamics Imaging, Wako, Saitama, Japan

Complex Traits and Polygenic Disorders 1

Mon(2)-P-54

Rs738409 Polymorphism in PNPLA3 gene is associated with lower insulin resistance in Korean MenRs738409 Polymorphism in PNPLA3 gene is associated with lower insulin resistance in Korean Men

Jin Ho Park1, BeLong Cho1, Hyuktae Kwon2

1Family Medicine, Seoul National University Hospital, Korea, South, 2Family Medicine, Healthcare System Gangnam Center, Seoul National University Hospital

Mon(2)-P-55

Candidate genes for strabismus (esotropia and exotropia) susceptibility chromosomal loci

Toshihiko MatsuoOphthalmology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Japan

Mon(2)-P-56

Deep Resequencing of SULF2-PREX1 intergenic region in Nephrotic Syndrome

Khun Z Latt1, Khor Seik-Soon1, Kenjiro Honda2, Yuki Hitomi1, Eisei Noiri2,3, Katsushi Tokunaga1

1Department of Human Genetics, School of International Health, The University of Tokyo, Japan, 2Department of Nephrology and Endocrinology, The University of Tokyo Hospital, 3Department of Haemodialysis and Apheresis, The University of Tokyo Hospital

Mon(2)-P-57

Contribution of variants in the FGD6 gene with endometriosis risk

Hien T. T Luong1,2, Jodie N Painter2, Dale R Nyholt2,3, Grant W Montgomery2

1Pediatric department, Hanoi Medical University, Vietnam, 2Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institue, Brisbane, Australia, 3Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia

Mon(2)-P-58

Genome-wide association study of clinically-ascertained gout identifies multiple risk loci and its association with clinical subtypes

Airi Akashi1, Hirotaka Matsuo1, Ken Yamamoto2, Hirofumi Nakaoka3, Akiyoshi Nakayama1, Masayuki Sakiyama1, Atsushi Takahashi4,5, Takahiro Nakamura6, Yuki Tanahashi1, Nobuyuki Hamajima7, Ituro Inoue3, Michiaki Kubo5, Kimiyoshi Ichida8, Hiroshi Ooyama9, Toru Shimizu10, Nariyoshi Shinomiya1

1Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Japan, 2Department of Medical Chemistry, Kurume University School of Medicine, 3Department of Integrated Genetics, National Institute of Genetics, 4Omics Research Center, National Cerebral and Cardiovascular Center, 5Center for Integrative Medical Sciences, RIKEN, 6Laboratory for Mathematics, National Defense Medical College, 7Department of Healthcare Administration, Nagoya University Graduate School of Medicine, 8Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, 9Ryougoku East Gate Clinic, 10Midorigaoka Hospital

Mon(2)-P-59

Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family

Marzena Gajecka1,2, Justyna A. Karolak1,2, Malgorzata Rydzanicz3, Barbara Ginter-Matuszewska1,2, Jose A. Pitarque4, Andrea Molinari4, Bassem A. Bejjani51Institute of Human Genetics, Polish Academy of Sciences, Poland, 2Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 3Department of Medical Genetics, Medical University of Warsaw, 4Department of Ophthalmology, Hospital Metropolitano, 5Sammamish, WA, USA

ICHG2016

100

Mon(2)-P-60

Whole-exome sequencing reveals a novel gene as a cause of aggressive periodontitis in Japanese families

Takeaki Sudo1,2, Yukinori Okada2, Hiroaki Kobayashi1, Misa Gokyu1, Yuichi Izumi1, Toshihiro Tanaka2,3

1Department of Periodontology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 2Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 3Bioresource Research Center, Tokyo Medical and Dental University

Mon(2)-P-61

Association of HLA-DPB1 with ANCA-associated vasculitis in a Japanese population

Aya Kawasaki1, Narumi Hasebe1, Misaki Hidaka1, Fumio Hirano2, Ken-ei Sada3, Shigeto Kobayashi4, Hidehiro Yamada5, Hiroshi Furukawa1,6, Kunihiro Yamagata7, Takayuki Sumida8, Nobuyuki Miyasaka9, Shigeto Tohma6, Shoichi Ozaki5, Seiichi Matsuo10, Hiroshi Hashimoto11, Hirofumi Makino12, Yoshihiro Arimura13, Masayoshi Harigai14, Naoyuki Tsuchiya1

1Molecular and Genetic Epidemiology Laboratory, University of Tsukuba, Japan, 2Department of Pharmacovigilance, Tokyo Medical and Dental University, Tokyo, Japan, 3Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 4Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, 5Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, 6Clinical Research Center for Allergy and Rheumatology, Sagamihara Hospital, National Hospital Organization, Sagamihara, Japan, 7Department of Nephrology, University of Tsukuba, Tsukuba, Japan, 8Department of Rheumatology, University of Tsukuba, Tsukuba, Japan, 9Department of Medicine and Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 10Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 11Juntendo University School of Medicine, Tokyo, Japan, 12Okayama University Hospital, Okayama, Japan, 13First Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan, 14Institue of Rheumatology, Tokyo Women's Medical Univsersity, Tokyo, Japan

Mon(2)-P-62

Variants discovery by amplicon-based exome sequencing for adult population of Yamagata Cohort Study in Japan

Hidenori Sato1, Shingo Koyama1, Mitsuru Emi2,3, Shinya Sato3, Takeo Kato3, Isao Kuboto3, Hidetoshi Yamashita3

1Genome Informatics Unit, Yamagata University, Faculty of Medicine, Japan, 2University of Hawaii, Cancer Center, 3Yamagata University, Faculty of Medicine

Mon(2)-P-63

The B Lymphoid Tyrosine Kinase (BLK) gene polymorphisms and susceptibility to Kawasaki diseases

Chia-Jung Chang1,2, Tai-Ming Ko1, Yuan-Tsong Chen1, Jer-Yuarn Wu1

1Institute of Biomedical Sciences, Academia Sinica, Taiwan, 2Graduate Institute of Microbiology, College of Medicine, National Taiwan University

Mon(2)-P-64

IkBL regulates susceptibility to HIV-1 infection

Akinori Kimura1, Taeko K. Naruse1, Daisuke Sakurai1, Jianbo An1, Hitoshi Ohtani1, Hiroshi Terunuma2, Emi E. Nakayama3, Tatsuo Shioda3, Gaurav Sharma4, Narinder K. Mehra4, Gurvinder Kaur4

1Medical Research Institute, Tokyo Medical and Dental University, Japan, 2Biotherapy Institute of Japan, 3Research Institute for Microbial Diseases, Osaka University, 4All India Institute of Medical Sciences

Mon(2)-P-65

APOBEC3H polymorphisms are associated with susceptibility to HIV-1 infection and development of AIDS in Asian populations

Taeko K. Naruse1, Daisuke Sakurai1, Hitoshi Ohtani1, Hiroshi Terunuma2, Yasumasa Iwatani3, Wataru Sugiura3, Gaurav Sharma4, Narinder K. Mehra4, Gurvinder Kaur4, Akinori Kimura1

1Medical Research Institute, Tokyo Medical and Dental University, Japan, 2Biotherapy Institute of Japan, 3Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4All India Institute of Medical Sciences

Mon(2)-P-66

Delay discounting, genetic sensitivity, and leukocyte telomere length

Richard P. Ebstein1, Onn-Siong Yim2, Xing Zhang3, Poh San Lai21Psychology, National University of Singapore, Singapore, 2Human Genetics Lab at Department of Paediatrics, National University of Singapore, 3Future Resilient System, Singapore-ETH Center

Mon(2)-P-67

Identification of novel susceptibility region for Tuberculosis on Chromosome 5q31.1

Jing Hao Wong1, Ayaka Nakauchi1, Surakameth Mahasirimongkol2, Hideki Yanai1,3, Akihiko Mabuchi1, Xiaoxi Liu1,4, Taisei Mushiroda5, Taku Miyagawa1, Naoto Keicho6, Katsushi Tokunaga1

1Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2Medical Genetics Center, Medical Life Sciences Institute, Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand, 3Fukujuji Hospital, Japan Anti-Tuberculosis Association (JATA), Kiyose, Japan, 4RIKEN Brain Science Institute, Wako, Saitama, Japan, 5Laboratory for Pharmacogenetics, RIKEN Center for Genomic Medicine, Tsurumi-ku, Yokohama, Kanagawa, Japan, 6Department of Pathophysiology and Host Defense, The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association (JATA), Tokyo, Japan

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Mon(2)-P-68

Association study of OPRD1 gene variants with susceptibility to opioid addiction in a northern Iranian population; a candidate gene approach for methadone maintenance treatment

Alireza Sharafshah, Parvaneh Keshavarz, Hedyeh FazelCellular and Molecullar research center, Faculty of medicine, Guilan University of Medical Science, Iran

Mon(2)-P-69

A polymorphism in CCR1/CCR3 is associated with narcolepsy

Hiromi Toyoda1, Taku Miyagawa1, Asako Koike2, Seik Soon Khor1, Makoto Honda3, Katsushi Tokunaga1

1Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan, 2Research & Development Group, Hitachi, Ltd., 3Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science

Mon(2)-P-70

Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women

Jeonghyun Kim1,2, Hyun-Seok Jin3, Eunkuk Park1,2, Bo-Young Kim4, Ryun-Jin Lee1,2, Gyu-Bin Lim1,2, Seon-Yong Jeong1,2

1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea, South, 2Department of Biomedical Sciences, Ajou University Graduate School of Medicine, Suwon, Republic of Korea, 3Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Republic of Korea, 4Division of Intractable Disease, Center for Biomedical Sciences, National Institute of Health, Korea Centers for Disease Control & Prevention, Cheongju, Republic of Korea

Mon(2)-P-71

Association of genes polymorphisms from various functional classes with type 1 diabetes complications and their combination

Nataliya Tarasenko1, Irina Goncharova1,2, Anton Markov1

1Federal State Budgetary Scientific Institution The Research Institute for Medical Genetics, Russia, 2Research Institute for Complex Issues of Cardiovascular Diseases

Mon(2)-P-72

Whole exome sequencing of twins for Biliary Atresia

Ohsuke Migita1,2, Akira Matsui3, Kenichiro Hata2

1St. Marianna University School of Medicine, Japan, 2National Research Institute for Child Health and Development, 3College of Nursing St. Luke's International Hospital

Mon(2)-P-73

Whole Genome Sequencing Approach to Discover Susceptibility Genomic Variants in a Multiplex Nuclear Family of Schizophrenia

Shun-Chun Yu1, Hsuan-Yu Chen2, Sung-Liang Yu3, Chih-Min Liu4,5, Hai-Gwo Hwu1,4,5, Wei J. Chen1,4,5,6

1Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taiwan, 2Institute of Statistical Science, Academia Sinica, Taipei, Taiwan 115, R.O.C., 3Department of Clinical Laboratory Sciences and Medical Biotechnology, National Taiwan University College of Medicine, Taipei, Taiwan, 4Department of Psychiatry, College of Medicine and National Taiwan University Hospital, National Taiwan University, 5Graduate Institute of Brain and Mind, College of Medicine, National Taiwan University Hospital, National Taiwan University, 6Genetic Epidemiology Core, Center of Genomic Medicine, National Taiwan University

Mon(2)-P-74

Association of a variant in interleukine 13 (IL13) with food allergy in the Japanese population

Tomomitsu Hirota1, Mayumi Tamari1, Sakura Sato2, Noriyuki Yanagida2, Motohiro Ebisawa2, Takanori Imai3, Teruaki Matsui4, Komei Ito4, Satoru Doi51RIKEN Yokohama Institute, Japan, 2Sagamihara National Hospital, 3Showa University School of Medicine, 4Aichi Children's Health and Medical Center, 5Osaka Prefectural Medical Center

Mon(2)-P-75

CYP27A1 rs19969157 is the rare variant associated with atopic dermatitis with high serum IgE levels

Hisato Suzuki1, Emiko Noguchi2, Yuka Makino2, Hisako Enomoto3, Mayumi Tamari4, Tomomitsu Hirota4

1Department of Child Health, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Japan, 2Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 3Department of Dermatology, Sogo-Moriya-Daiichi Hospital, 4Laboratory for Respiratory and Allergic Diseases, Core for Genomic Medicine, Center for Integrative Medical Sciences, RIKEN

Mon(2)-P-76

miRNA modulation of extracellular matrix gene-gene interactions and susceptibility to ACL rupture

Kyle Willard1, Sasha Mannion1, Colleen J Saunders2, Mary-Jessica Laguette1, Malcolm Collins1, Alison V September1

1Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape town, South Africa, 2South African National Bioinformatics Institute/MRC Unit for Bioinformatics Capacity Development, University of the Western Cape, Bellville, South Africa

Mon(2)-P-77

Genetic and functional assessment of rare alleles of NAFLD susceptibility loci in Japanese

Supichaya Boonvisut, Sadahiko Iwamoto, Nakayama Kazuhiro, Watanabe KazuhisaDivision of Human Genetics, Center for Molecular Medicine, Jichi Medical Uni versity, Japan

ICHG2016

102

Mon(2)-P-78

Decoding Musculoskeletal Soft Tissue Injuries

Alison V September1, Andrea Gibbon1, Kyle Willard1, Rene Van Wyk1, Colleen J Saunders2, Junaid Gamieldien2, Malcolm Collins1

1Human Biology, University of Cape Town, Division of Exercise Science and Sports Medicine, South Africa, 2South African National Bioinformatics Institute/MRC Unit for Bioinformatics Capacity Development, University of the Western Cape, Bellville, South Africa

Mon(2)-P-79

Analyses of TGF-β stimulated gene expression levels of BGN in a susceptibility model for musculoskeletal soft tissue injuries: A pilot ex vivo study

Mary-jessica N. Laguette, Leonardo Alves de Souza Rios, Kyle Willard, Malcolm Collins, Alison SeptemberHuman Biology, University of Cape Town, South Africa

Mon(2)-P-80

The associate network approach identified of novel genes of tuberculosis susceptibility

Elena Bragina1, Aleksey Rudko1, Evgeny Tiys2, Vladimir Ivanisenko2, Maxim Freidin1

1Institut of Medical Genetics, Russia, 2Institute of Cytology and Genetics

Mon(2)-P-81

Search for genetic variations responsible for giant coronary aneurysms in Kawasaki disease patients by whole exome sequencing

Yoshihiro Onouchi1, Hidewaki Nakagawa3, Daichi Shigemizu4,5, Kouichi Ozaki2, Yosikazu Nakamura6, Yuji Asami7, Mitsuru Seki7, Tohru Kobayashi8, Yuta Kochi9, Tatsushi Toda10, Wataru Satake10, Akira Hata1, Tatsuhiko Tsunoda4,5, Toshihiro Tanaka2,11, Japan Kawasaki Disease Genome Consortium1Department of Public Health, Chiba University Graduate School of Medicine, Japan, 2Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, 3Laboratory for Genome Sequencing Analysis, RIKEN Center for Integrative Medical Sciences, 4Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, 5Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, 6Department of Public Health, Jichi Medical University, 7Department of Pediatrics, Gunma University School of Medicine, 8Department of Development Strategy, Center for Clinical Research and Development, National Center for Child Health and Development, 9Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, 10Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, 11Department of Human Genetics and Disease Diversity, Tokyo Medical and Dental University Graduate School of Medical and Dental Sciences

Mon(2)-P-82

Fine-mapping of CDKN2B-AS1 in African Americans with primary open-angle glaucoma from a biorepository linked to de-identified electronic medical records

Nicole A Restrepo1, Sarah M Laper2, Dana C Crawford1

1Epidemiology & Biostatistics, Case Western Reserve University, USA, 2Eastern Virginia Medical School

Mon(2)-P-83

Whole exome sequencing in Thrombotic Storm patients identified rare variants in genes affecting efficiency of the negative feedback system blocking thrombin formation

Karen Nuytemans1, Lissette Gomez1, Natalia Hoffman1, Patrice Whitehead-Gay1, Natalie Alves1, Craig S. Kitchens2, Doruk Erkan3, Leonardo R. Brandao4, Andra H. James5, Roshni Kulkarni6, Thomas L. Ortel5, Margaret A. Pericak-Vance1, Jeffery M. Vance1

1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, USA, 2University of Florida, Gainesville, 3Hospital for Special Surgery, Weill Medical College of Cornell University, New York, NY, 4Hospital for Sick Children, Toronto, ON, Canada, 5Duke University Medical Center, Durham, NC, 6Michigan State University, East Lansing

Mon(2)-P-84

Identification of Putative Autism Spectrum Disease [ASD] Predisposing Genes by Whole Genome Next Generation Sequencing [WGNGS] & Complex Comparative Genome Analyses in an Extended Family with ASD

Marios Kambouris1,2, Abeer Fadda3, Yasser Al-Sarraj4, Dina Ahram4, Sara Tomei5, Ena Wang5, Hatem El-Shanti4,6

1Pathology-Genetics, Sidra Medical & Research Center, Qatar, 2Genetics, Yale University School of Medicine, New Haven, CT, USA, 3Biomedical Informatics, Sidra Medical & Research Center, Doha, Qatar, 4Qatar Biomedical Research Institute Medical Genetics Center, Hamad Bin Khalifa University, Doha, Qatar, 5Research Center, Sidra Medical & Research Center, Doha, Qatar, 6Pediatrics, University of Iowa, Iowa City, IA, USA

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Mon(2)-P-85

Putative Relation Between Autism Spectrum Disease [ASD] and Hereditary Multiple Exostosis [HME] Investigated by Whole Genome Next Generation Sequencing [WGNGS] & Comparative Genome Analyses in a Family with ASD and HME with EXT-1 Mutations

Marios Kambouris1,2, Abeer Fadda3, Yasser Al-Sarraj4, Dina Ahram4, Sara Tomei5, Ena Wang5, Hatem El-Shanti4,6

1Pathology-Genetics, Sidra Medical & Research Center, Qatar, 2Genetics, Yale University School of Medicine, New Haven, CT, USA, 3Biomedical Informatics, Sidra Medical & Research Center, Doha, Qatar, 4Qatar Biomedical Research Institute Medical Genetics Center, Hamad Bin Khalifa University, Doha, Qatar, 5Research Center, Sidra Medical & Research Center, Doha, Qatar, 6Pediatrics, University of Iowa, Iowa City, IA, USA

Mon(2)-P-86

Identifying candidate genes under linkage peaks for metabolic syndrome traits in a Japanese American (JA) family

Karen L Edwards1, Jia Y Wan1, Trina M Norden-Krichmar1, Stephanie A Santorico2,3, American Diabetes Association GENNID Study Group1Epidemiology, University of California, Irvine, USA, 2Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA, 3Mathematical and Statistical Sciences, University of Colorado, Denver, USA

Mon(2)-P-88

Polymorphisms of genes involved in extracellular matrix homeostasis of ligaments and the risk of anterior cruciate ligament injury

Mariana F Leal1,2, Leonor C Loyola1,2, Diego C Astur2, Gustavo G Arliani2, Carlos ES Franciozi2, Marilia C Smith1, Pedro Debieux2, Alberto C Pochini2, Carlos V Andreoli2, Benno Ejnisman2, Moises Cohen2

1Morfologia e Genetica, Universidade Federal de Sao Paulo, Brazil, 2Ortopedia e Traumatologia, Universidade Federal de Sao Paulo

Mon(2)-P-89

Effect of HLA polymorphisms on the survival in the patient with AIDS

Michio Yasunami1, Nuanjun Wichukchinda2, Reiko Miyahara1, Naho Tsuchiya1, Hitomi Nakamura1, Masahiko Mori1, Archawin Rojanawiwat2, Panita Pathipvanic3, Pathom Sawanpanyalert2, Koya Ariyoshi11Institute of Tropical Medicine, Nagasaki University, Japan, 2Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand, 3Day Care Center, Lampang Hospital, Lampang, Thailand

Mon(2)-P-90

Association of SNPs of TLR pathway regulating innate immune responses with pediatric respiratory infectious diseases in Vietnamese

Reiko Miyahara1, Lay Myint Yoshida1, Duc Ahn Dang2, Kensuke Takahashi1, Hitomi Nakamura1, Dinh Thiem Vu2, Huu Tho Le3, Hiroyuki Moriuchi4, Sharon E Cox5, Koya Ariyoshi1, Michio Yasunami11Institute of Tropical Medicine, Nagasaki University, Japan, 2National Institute of Hygiene and Epidemiology, Hanoi, Vietnam, 3Khanh Hoa Provincial Public Health Service, Nha Trang, Vietnam, 4Graduate School of Medical Sciences, Nagasaki University, Nagasaki, Japan, 5Graduate School of Tropical Medicine and Global Health, Nagasaki University, Nagasaki, Japan

Mon(2)-P-91

Association of ADAMDEC1 polymorphism with common human diseases

Irina Goncharova1,2, Vera Ipatova2, Nataliya Tarasenko1, Oksana Makeeva1,2, Anton Markov1

1The Research Institute for Medical Genetics, Russia, 2Research Institute for Complex Issues of Cardiovascular Diseases

Mon(2)-P-92

Whole genome rare variant association study identifies a non-genic region near TFAM associated with severe emphysema

Josiah Radder, Yingze Zhang, Frank Sciurba, Steven ShapiroUniversity of Pittsburgh, USA

Mon(2)-P-93

Trio-based exome sequencing case study in identifying the underlying genetic factors associated with progressive flail arm syndrome, motor neuron disorder

Mahjoubeh Jalali Sefid Dashti1, Helen Cross2, Jeanine Heckmann3, Junaid Gamieldien1

1South African National Bioinformatics Institute, South African National Bioinformatics Institute, South Africa, 2Department of Medicine, Groote Schuur Hospital and University of Cape Town, Rondebosch, South Africa, 3Division of Human Genetics, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Rondebosch, South Africa

Bioinformatics and Genomic Technology

Mon(2)-P-94

New features of the UCSC Genome Browser - tools for research and the clinic

Robert M Kuhn, Luvina Guruvadoo, Angie S Hinrichs, Maximillian Haeussler, Matt L Spier, Jonathon Casper, Brian J. Raney, Ann S. Zweig, Donna Karolchik, W. James KentUC Santa Cruz Genomics Institute, University of California Santa Cruz, USA

ICHG2016

104

Mon(2)-P-95

f-tree: a novel and improved automated questionnaire-based pedigree chart creation software for use in large-scale genome cohort studies

Tomoharu Tokutomi1, Kayono Yamamoto1,2, Atsushi Shimizu2, Akimune Fukushima1,3

1Department of Clinical Genetics, School of Medicine, Iwate Medical University, Japan, 2Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 3Division of Innovation and Education, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University

Mon(2)-P-96

A computational platform for human genome analysis and interpretation in Argentina

Patricio Yankilevich, Maximiliano de Sousa Serro, Daniel KoileInstituto de Investigacion en Biomedicina de Buenos Aires. CONICET - Partner Institute of the Max Planck Society, Argentina

Mon(2)-P-98

PhaSTESt (v1.2), a user friendly tool for power calculations in pharmacogenomic studies with "time to event" outcomes

Hamzah Syed, Andrea Jorgensen, Andrew P MorrisBiostatistics, University of Liverpool, UK

Mon(2)-P-99

NGS-SWIFT: A Cloud-Based Variant Analysis Framework Using Control-Accessed Sequencing Data from dbGaP/SRA

Chunlin Xiao, Eugene Yaschenko, Stephen SherryNIH, USA

Mon(2)-P-100

EIGEN: A spectral approach for the integration of functional genomics annotations for both coding and noncoding sequence variants

Iuliana Ionita-Laza1, Kenneth McCallum1, Bin Xu2, Joseph Buxbaum3

1Biostatistics, Columbia University, USA, 2Psychiatry, Columbia University, 3Psychiatry and Genome Sciences, Mount Sinai School of Medicine

Mon(2)-P-101

An Evaluation of Methods for HLA Allele Imputation from SNP Genotypes

Allan J. Motyer1,3, Damjan Vukcevic1,2, Stephen Leslie1,2

1Statistical Genetics, Murdoch Childrens Research Institute, Australia, 2Department of Mathematics and Statistics, University of Melbourne, 3Centre for Systems Genomics, The University of Melbourne, Australia

Mon(2)-P-102

Effect of various minor groove binding compounds on DNA-triplex containing (GAA)5 repeat: A comparative study to screen potential drug candidate for Friedrich's ataxia therapeutics

Himanshu N Singh, Moganty R RajeswariBiochemistry, All India Institute of Medical Sciences, India

Mon(2)-P-103

Systematic analysis of mutation distribution in three dimensional protein structures identifies mutational hotspot in Mendelian disease genes

Akihiro Fujimoto, Hidewaki NakagawaRIKEN, Japan

Mon(2)-P-104

In-silico Prediction of Causal Coronary Artery Disease Genes

Benedikt Reiz1,2, Ingrid Brænne1,2, Jeanette Erdmann1,2, Heribert Schunkert3,4, Leducq Consortium CAD Genomics1Institute for Integrative and Experimental Genomics, University of Luebeck, Germany, 2DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Luebeck/Kiel, Luebeck, 3Deutsches Herzzentrum Muenchen, Technische Universitaet Muenchen, Muenchen, 4DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich

Mon(2)-P-105

UnderCover: A Next Generation Sequencing Coverage Analysis tool for Whole genome, exome and custom targeted panel sequencing

Pavlos Antoniou1,2, Patricia Bignell2, Joanne Mason2, Anna Schuh1,2

1Nuffield Division of Clinical Laboratory Sciences, University of Oxford, UK, 2Oxford Molecular Diagnostic Centre, Molecular Haematology, Level 4, John Radcliffe Hospital, Oxford, UK

Mon(2)-P-106

Accurate detection of mutations from RNA-seq in lung adenocarcinoma for clinical translation of precision medicine

Zhifu Sun, Naresh Prodduturi, Aditya Bhagwate, Ping Yang, Jean-Pierre KocherHealth Sciences Research, Mayo Clinic, USA

Mon(2)-P-107

Genomic Signal Processing algorithm for conserved and variable sequence search

Ernesto Borrayo1, Adriana P Mendizabal2, Alejandro Morales3

1Gene Research Center, University of Tsukuba, Japan, 2Farmacobiology Department, Universidad de Guadalajara, 3Computer Sciences Department, Universidad de Guadalajara

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Mon(2)-P-108

Towards HLA imputation network: A network of HLA genotype imputation reference from multiple populations

Seik-Soon Khor1, Buhm Han2, Hyunchul Choi3, Minae Kawashima1,4, Hiromi Sawai1, Kyuyoung Song3, Naoyuki Kamatani5, Katsushi Tokunaga1, HLA imputation network1Graduate School of Medicine, Department of Human Genetics, The University of Tokyo, Japan, 2Department of Convergence Medicine, University of Ulsan College of Medicine & Asan Institute for Life Sciences, Asan Medical Center, Seoul, Republic of Korea, 3Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea, 4Japan Science and Technology Agency (JST), Tokyo, Japan, 5StaGen, Tokyo, Japan

Mon(2)-P-109

Bio-Virtuoso: A package of Docker containers for multiple source data retrieval, RDF conversion, and triplestore deployment in a simplified manner

Hiroyuki Mishima, Koh-ichiro YoshiuraDepartment of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan

Mon(2)-P-110

Comprehensive Genetic Exploration of Skeletal Dysplasia Using Targeted Exome Sequencing

Jun-Seok Bae1, Nayoung K.D. Kim2, Woong-Yang Park1, Tae-Joon Cho3

1Samsung Genome Institute, SungKyunKwan University, Korea, South, 2Samsung Genome Institute, 3Seoul National University

Mon(2)-P-111

Performance comparison of four commercial human whole-exome capture platforms

Daichi Shigemizu1,2, Yukihide Momozaw3, Testuo Abe2, Takashi Morizono2, Keith A Boroevich2, Sadaaki Takata3, Kyota Ashikawa3, Michiaki Kubo3, Tatsuhiko Tsunoda1,2

1Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Japan, 2Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, 3Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences

Mon(2)-P-112

A Statistical Model for the Refinement and Ranking of Variant Calls

Tony Kuo, Jun Sese, Martin Frith, Paul HortonBRD, National Institute of Advance Industrial Science and Technology, AIST, Tokyo, Japan

Mon(2)-P-113

Identifying sequence differences among copy number variants from sequencing data

Takahiro Mimori1, Naoki Nariai2, Kaname Kojima1, Yukuto Sato1, Yosuke Kawai1, Yumi Yamguchi-Kabata1, Masao Nagasaki11Tohoku University, Japan, 2University of California, San Diego

Mon(2)-P-114

Next Generation Sequencing Strategies to reconstruct Ancient African Mitochondrial Genomes

Tasneem Salie1, Raj S Ramesar1, Alan G Morris1, John Parkington1, Johannes Krause2, Alissa Mittnik2

1Division of Human Genetics, University of Cape Town, South Africa, 2University of Tubingen, Germany

Mon(2)-P-115

Comparison of the clinical sequence using two platforms of hereditary disease panels and exome sequencing

Naoko Sato1, Hiroyuki Ishiura1, Jun Mitsui1, Budrul Ahsan1, Masaki Tanaka1, Jun Goto3, Shinichi Morishita2, Shoji Tsuji11Neurology, Graduate School of Medicine, The University of Tokyo, Japan, 2Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, 3Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan

Mon(2)-P-116

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

Fuyuki Miya1,2, Mitsuhiro Kato3, Tadashi Shiohama4, Nobuhiko Okamoto5, Shinji Saitoh6, Mami Yamasaki7, Daichi Shigemizu1,2, Tetsuo Abe2, Takashi Morizono2, Keith A Boroevich2, Kenjiro Kosaki8, Yonehiro Kanemura9,10, Tatsuhiko Tsunoda1,2

1Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Japan, 2Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, 3Department of Pediatrics, Showa University, School of Medicine, 4Department of Pediatrics, Graduate School of Medicine, Chiba University, 5Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, 6Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 7Department of Pediatric Neurosurgery, Takatsuki General Hospital, 8Center for Medical Genetics, Keio University School of Medicine, 9Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 10Department of Neurosurgery, Osaka National Hospital, National Hospital Organization

ICHG2016

106

Mon(2)-P-117

Happy families - the benefits and bioinformatics of using extended pedigrees for next-generation sequencing

Nicholas B. Blackburn1,2, Juan M. Peralta1, Kathryn P. Burdon2, Joanne E. Curran1, John Blangero1, Jac C. Charlesworth2

1South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, USA, 2Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia

Mon(2)-P-118

Inferring the sequence and timing of admixture events in populations with complex admixture history using genome-wide SNP-chip data

Irina Pugach1, Rostislav Matveev2, Brigitte Pakendorf3, Mark Stoneking1

1Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Germany, 2Max Planck Institute for Mathematics in the Sciences, Leipzig, Germany, 3Laboratoire Dynamique du Langage, UMR5596, CNRS and Université Lyon Lumière 2, Lyon, France

Mon(2)-P-119

LAMPLINK: Additional functions for PLINK to detect SNP combination statistically significantly associated with a trait

Aika Terada1,2, Koji Tsuda1,2, Jun Sese2

1The University of Tokyo, Japan, 2National Institute of Advanced Industrial Science and Technology

Mon(2)-P-120

An integrated Chromosomal omics approach to decipher molecular mechanism of CGG repeat expansion in Fragile X syndrome

Yuji Nakayama1, Naohiro Sunamura2, Kaori Adachi1, Akiko Kashiwagi4, Daigo Inaoka2, Mitsuo Oshimura3, Hiroyuki Kugoh2,3, Eiji Nanba1

1Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan, 2Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, Yonago, Japan, 3Chromosome Engineering Research Center, Tottori University, Yonago, Japan, 4Division of Laboratory Animal Science, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan

Mon(2)-P-121

High Efficiency Automated DNA Extraction Methods for Degraded Old Skeletal Samples

Seung-Bum Hong, Yang-Seop Kim, Hee-Jung AhnDivision of DNA Analysis, Scientific Investigation Laboratory, Criminal Investigation Command, Korea, South

Mon(2)-P-122

Sparse modeling of genetic variants using summary statistics from genome-wide association studies

Zheng Ning1, Youngjo Lee2, Yudi Pawitan1, Xia Shen1

1Medical Epidemeology and Biostatistics, Karolinska Institutet, Sweden, 2Seoul National University

Mon(2)-P-123

Universal system for analysis most type of mutation

Oksana P Ryzhkova, Alexandr V PolyakovResearch Centre of Medical Genetics, Russia

Mon(2)-P-124

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

Ayal B Gussow1,2, Slave Petrovski1,3, Quanli Wang1, Andrew S Allen2, David B Goldstein1

1Columbia University, USA, 2Duke University, 3University of Melbourne

Mon(2)-P-125

The Qatar Genome Reference: A Population-Specific Tool for Precision Medicine in the Middle East

Juan L Rodriguez-Flores1, Khalid A Fakhro2,3, Michelle R Staudt1, Monica D Ramstetter1, Amal Robay3, Joel A Malek3, Ramin Badii4, Ajayeb Al-Nabet Al-Marri4, Charbel A Khalil3, Alaya Al-Shakaki3, Omar Chidiac3, Dora Stadler3, Mahmoud Zirie4, Amin Jayyousi4, Jacqueline Salit1, Jason G Mezey1,5, Ronald G Crystal11Department of Genetic Medicine, Weill Cornell Medical College, USA, 2Sidra Medical and Research Center, Doha, Qatar, 3Weill Cornell Medical College, Doha, Qatar, 4Hamad Medical Corporation, Doha, Qatar, 5Cornell University, Ithaca, NY

Mon(2)-P-126

CNVs assessment by whole exome sequencing in patients with multiple congenital malformations and developmental delay

Leslie D Kulikowski1,4, Evelin A Zanardo1,4, Gil M Novo-Filho1,4, Marilia M Montenegro1,4, Alexandre T Dias1,4, Thais V Costa1,4, Fabricia A Madia1,4, Amon M Nascimento1,4, Flavia B Piazzon1,2,4, Fabiola P Monteiro2, Larissa S Costa2,3, Marcia Dallamano2, Joao P Kitajima2, Chong A Kim3, Fernando KoK2

1Pathology, University of São Paulo, Brazil, 2Mendelics Genomic Analysis, Sao Paulo, Brazil, 3Genetics Unity, Department of Pediatrics, Children Institute, Universidade de São Paulo, 4Cytogenomics Laboratory – LIM 03, Universidade de Sao Paulo-HC-FMUSP, Sao Paulo, Brazil

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Mon(2)-P-127

Analysis of the human subtelomeric regions to elucidate the real structure and pathogenesis of the related diseases

Yoko Kuroki1, Atsushi Toyoda2, Hideki Noguchi2, Kumiko Yanagi1, Asao Fujiyama2,3, Tadashi Kaname1

1Department of Genome Medicine, National Research Institute for Child Health and Development, Japan, 2Center for Information Biology, and Advanced Genomics Center, National Institute of Genetics, 3Principles of Informatics, National Institute of Informatics

Mon(2)-P-128

Application of High Throughput Chemical Genomics Screening Using Yeast Deletion Set for Taiwanofungus Camphoratus

Edward Tsui1, Samah Saharti5, Huang Y Albert2, Chen Daniel4, Wang L Lilian3, Chen C Jeremy4

1La Sierra University, USA, 2Biotech KC Inc, 3Rite Aid Corp, 4JC Acupuncture, 5Dept of Pathology, University of California, San Deigo

Mon(2)-P-129

PAFFT: A new homology search algorithm for third-generation sequencers

Kazuharu Misawa1,2, Ryo Ootsuki3,4

1Tohoku Medical Megabank Organization, Tohoku University, Japan, 2Graduate School of Medicine, Tohoku University, 3Faculty of Chemical and Biological Sciences, Japan Women's University, 4Department of Natural Sciences, Faculty of Arts and Sciences, Komazawa University

Mon(2)-P-130

Iterative pruning method of unsupervised clustering for categorical data

Kridsadakorn Chaichoompu1,2, Sissades Tongsima3, Philip J Shaw4, Anavaj Sakuntabhai5,6, Kristel Van Steen1,2

1Montefiore Institute, University of Liege, Belgium, 2GIGA-R, University of Liege, Belgium, 3Genome Technology Research Unit, National Center for Genetic Engineering and Biotechnology, Thailand, 4Medical Molecular Biology Research Unit, National Center for Genetic Engineering and Biotechnology, Thailand, 5Functional Genetics of Infectious Diseases Unit, Institut Pasteur, France, 6Centre National de la Recherche Scientifique, France

Mon(2)-P-131

HLA-HD, a high performance HLA typing algorithm using next generation sequencing results to create a reliable catalog of HLA alleles

Shuji Kawaguchi, Koichiro Higasa, Ryo Yamada, Fumihiko MatsudaCenter for Genomic Medicine, Graduate School of Medicine Kyoto University, Japan

Mon(2)-P-132

Functional Analysis of Human Methyl-CpG Binding Protein 2 by RNA Silencing and Expression Profiling

Injoo Kim1,2,7, Shin Hae Lee3, Jinwoo Jeong4, Jun Hyung Park5, Mi Ae Yoo6, Cheol Min Kim1,2,7

1Supercomputing center, Pusan National University, Korea, South, 2Research Center for Anti-Aging Technology Development, Pusan National University, 3Department of Biological Sciences, Inha University, 4Department of Emergency Medicine, College of Medicine, Dong-A University, 5Codes Division, Insillicogen, Inc., 6Department of Molecular Biology, Pusan National University, 7Department of Medical Informatics, School of Medicine, Pusan National University

Mon(2)-P-133

MultiDCoX: Algorithm for Multivariate Differential Co-expression Analysis

Herty Liany1, Krishna Murthy R. Karuturi3, Jagath C. Rajapakse2

1Genome Institute of Singapore, Singapore, 2Nanyang Technological University, 3The Jackson Laboratory, USA

Mon(2)-P-134

Network biology to identify druggable targets for Parkinson's disease

Jhumur Pani1, Himanshu N Singh2

1Cytogenetics, MTA Infotech, India, 2School of Sciences, Noida International University

Mon(2)-P-135

Differentially Expressed Genes-At-Risk in Affected Alzheimer's Brain as Potential Biomarkers

Vishnu Swarup1, Himanshu N. Singh2, Achal K. Srivastava1

1Neurology, All India Institute of Medical Sciences, New Delhi, India, 2Biochemistry, All India Institute of Medical Sciences, New Delhi, India

Mon(2)-P-136

Publically available bioinformatics resources point to novel functions and epigenetic regulation of BMP8A: a potential role in air quality-related peripheral arterial disease pathogenesis

Cavin K Ward-Caviness1,2, Lucas M Neas3, Colette Blach2, Carol S Haynes2, Karen LaRocque-Abramson2, Elizabeth Grass2, Elaine Dowdy2, Robert B Devlin3, David Diaz-Sanchez3, Wayne E Cascio3, Marie Lynn Miranda4, Simon G Gregory2, Svati H Shah2,5, William E Kraus2,5, Elizabeth R Hauser2,6,7

1Helmholtz Institute Munich, Germany, 2Duke Molecular Physiology Institute, Duke University Medical Center, 3National Health and Environmental Effects Research Laboratory, US Environmental Protection Agency, 4National Center for Geospatial Medicine, Rice University, 5Division of Cardiovascular Medicine, Duke University Medical Center, 6Department of Biostatistics and Bioinformatics, Duke University Medical Center, 7Cooperative Studies Program Epidemiology Center-Durham, Veterans Affairs Medical Center

ICHG2016

108

Mon(2)-P-137

Kinship-assisted variant filtering for exome sequencing analysis of extended pedigrees

Evangelos Bellos1, Lachlan Coin1,2, Vanessa Sancho-Shimizu3,4, Michael Levin3

1Genomics of Common Disease, Imperial College London, UK, 2Institute for Molecular Biosciences, University of Queensland, 3Section of Paediatrics, Faculty of Medicine, Imperial College London, 4Section of Virology, Faculty of Medicine, Imperial College London

Mon(2)-P-138

NGS Library Prep Methods to Achieve Comprehensive Coverage for WGS and Targeted Sequencing at Low DNA Input Quantities, Including FFPE Samples

Matthew Hymes, Laurie KuriharaSwift Biosciences, USA

Clinical Genetics and Dysmorphology 1

Mon(2)-P-139

Comprehensive Genetic Screening of GJB2, GJB6 and SLC26A4 among Non- Syndromic Hearing Loss Patients in Eastern part of India

Bidisha Adhikary1, Subhradev Biswas2, Madhusudan Das1, Silpita Paul31Zoology, University of Calcutta, India, 2IPGME &R, Kolkata, 3Department of Zoology University of Calcutta

Mon(2)-P-140

Clinical and genetic study of cleft lip with or without cleft palate and its association with Interferon regulatory factor 6 polymorphism in Egypt

Amira M. NabilHuman Genetics, Medical Research Institute, Egypt

Mon(2)-P-141

Syndromic DSD; A study of 30 Egyptian cases using cytogenetic techniques.

Mona A El Gammal, Inas M Mazen, Alaa K Kamel, Ahmed M TorkyClinical Genetics, National Research Centre, Egypt

Mon(2)-P-142

Clinical and Cytogenetic Studies of Patients with Sex Chromosome Disorders of Sex Development (DSD)

Aya AB. ElaidyClinical Genetics, National Research Centre, Egypt

Mon(2)-P-143

A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome

Toshinobu Miyamoto1, Yoshio Bando2, Eitetsu Koh3, Akira Tsujimura4, Yasushi Miyagawa4, Masashi Iijima3, Mikio Namiki3, Masaaki Shiina5, Kazuhiro Ogata5, Naomichi Matsumoto6, Kazuo Sengoku1

1Obstetrics and Gynecology, Asahikawa Medical University, Japan, 2Functional Anatomy and Neuroscience, Asahikawa Medical University, 3Urology, Kanazawa University Graduate School of Medical Science, 4Urology, Osaka University Graduate School of Medicine, 5Biochemistry, Yokohama City University Graduate School of Medicine, 6 Human Genetics, Yokohama City University Graduate School of Medicine

Mon(2)-P-144

Two cases of monosomy of 3q with cerebral MRI findings

Yuri Dowa1, Kiyoko Sameshima2, Kenji Ichinomiya3, Takashi Shiihara1, Keiko Shimojima4, Toshiyuki Yamamoto4

1Department of Neurology, Gunma Children's Medical center, Japan, 2Devision of Medical Genetics, Gunma Children's Medical Center, 3Department of Neonatology, Gunma Children's Medical Center, 4Tokyo Women's Medical University Institute for Integrated Medical Sciences

Mon(2)-P-145

De novo 4q31.21 delection and 9q34.2 duplication in the same patient. A case report

Matías Pérez1,2, Margarita Martínez1,2, Adelardo Mora1,2, Amanda González2,3

1Unidad de Genética. Servicio de Análisis Clínicos., Hospital Virgen de las Nieves. Servicio Andaluz de Salud, Spain, 2Instituto Biosanitario de Granada. Granada. Spain, 3FIBAO. Hospital Clínico San Cecilio. Granada. Spain

Mon(2)-P-146

A case of 45,X male

Shinsuke Ninomiya1, Noriko Tanaka2

1Department of Clinical Genetics, Kurashiki Central Hospital, Japan, 2Department of Pediatrics, Kurashiki Central Hospital

Mon(2)-P-147

Dosage changes of NIPBL cause various types of neurodevelopmental disability

Chihiro Hatano1, Takayuki Yokoi1, Yumi Enomoto1, Yoshinori Tsurusaki1, Toshiyuki Saito2, Junichi Nagai2, Kenji Kurosawa1

1Division of Medical Genetics, Kanagawa Children's Medical Center, Japan, 2Department of Clinical Laboratory, Kanagawa Children's Medical Center

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Mon(2)-P-148

Clinical and neuroimaging findings of an incomplete form of Moebius syndrome

Mitsuo Masuno1, Kiyoshi Matsui2, Koji Tanoue2, Noriko Aida3, Yuta Fujii3, Makiko Ohyama4, Jun Shibasaki4, Yasuko Yamanouchi1, Kenji Kurosawa5

1Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Japan, 2Division of General Medicine, Kanagawa Children's Medical Center, 3Division of Radiology, Kanagawa Children's Medical Center, 4Division of Neonatology, Kanagawa Children's Medical Center, 5Division of Medical Genetics, Kanagawa Children's Medical Center

Mon(2)-P-149

Simpson-Golabi-Behmel syndrome: A prenatal diagnosis in a fetus with GPC3 and GPC4 gene microduplications

Nadja Kokalj Vokac1,2, Faris Mujezinovic3, Danijela Krgovic1, Ana Blatnik1, Natasa Tul Mandic4, Tina Caks Golec5, Tina Vesnovar Vipotnik6, Boris Zagradisnik1

1Laboratory of Medical Genetics, University Medical Centre Maribor, Slovenia, 2Medical Faculty, University Maribor, Slovenia, 3Department of perinatology, Clinic for gynecology and perinatology, University Clinical Centre Maribor, Slovenia, 4Division of Perinatology, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana, Slovenia, 5Institute of pathology, Faculty of Medicine, University of Ljubljana, Slovenia, 6Department of Radiology, University Medical Center, Ljubljana, Slovenia

Mon(2)-P-150

A lethal outcome of Costello syndrome due to a novel pathogenic variant in the HRAS gene - a case report

Magdalena Pelc, Agata Skorka, Elzbieta Ciara, Dorota Jurkiewicz, Dorota Piekutowska-Abramczuk, Joanna Trubicka, Paulina Halat, Krystyna Chrzanowska, Malgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, Poland

Mon(2)-P-151

Distinct skeletal phenotypes in a Korean boy with SOFT syndrome caused by compound heterozygous mutations in POC1A

Jung Min Ko1,2, Soyoon Jung1, Jeeun Seo3, Choong Ho Shin1, Murim Choi2,3, Tae-Joon Cho4

1Pediatrics, Seoul National University Hospital, Korea, South, 2Research Coordination Center for Rare Diseases, Seoul National University Hospital, 3Biomedical Sciences, Seoul National University, 4Orthopedic Surgery, Seoul National University Hospital

Mon(2)-P-152

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients

Jung Min Ko1, Young Bae Sohn2, Choong Ho Shiin1, Sei Won Yang1, Jong Hee Chae1, Jae-hyung Kim3

1Pediatrics, Seoul National University Hospital, Korea, South, 2Medical Genetics, Ajou University Hospital, 3Ophalomolgy, Chungbuk National University Hospital

Mon(2)-P-153

Similarities of the Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum (OMIM 225040) and cardio-facio-cutaneous syndrome (OMIM 115150)

Masaharu Moroto1, Tomohiro Chiyonobu2, Sachiko Tokuda2, Kitaro Kosaka2, Shigemi Morioka3, Toshiyuki Yamamoto4, Yoko Aoki5, Masafumi Morimoto2

1Department of Pediatrics, Fukuchiyama City Hospital, Japan, 2Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 3Department of Pediatrics, Fukui Aiiku Hospital, 4Tokyo Women's Medical University Institute for Integrated Medical Sciences, 5Department of Medical Genetics, Tohoku University School of Medicine

Mon(2)-P-154

A musical pathway to improve some cognitive functions in Williams syndrome

Lilian M J Albano, Rachel S Honjo, Michele M Nunes, Leslie D Kulikowski, Stephanie P Pegler, Diogo C Q Soares, Jose R M Ceroni, Debora R BertolaPediatrics, Instituto da Crianca, Brazil

Mon(2)-P-155

Systemic and craniomaxillofacial characteristics of patients with Williams syndrome

Rina Hikita1, Sahori Matsuno1, Takuya Asami1, Takuya Ogawa1, Yoshiyuki Baba1,2, Michiko Tsuji1, Keiji Moriyama1

1Maxillofacial Orthognathics, Tokyo Medical and Dental University, Japan, 2Pedodontics and Orthodontics, National Center for Child Health and Development

Mon(2)-P-156

Two cases of AIS (androgen insufficiency syndrome) pursued different courses

Yoichiro Fujiwara, Mayuko Tsubouchi, Masako Eguchi, Motoi Inoue, Sayaka Funaki, Akino Morisaki, Hitomi Oi, HIroyuki Yamamoto, Yoshiharu YamadaDepartment of Obstetrics and Gynecology, Kyoto City Hospital, Japan

ICHG2016

110

Mon(2)-P-157

A rare case of mosaic trisomy 7 in a 5 year old child

Danielle K Bourque1, Julien Marcadier2, Melanie Beaulieu Bergeron1

1Dept. of Medical Genetics, Children's Hospital of Eastern Ontario, Canada, 2Clinical Genetics Unit, Alberta Children's Hospital

Mon(2)-P-158

CMA Analysis Identifies Homozygous Deletion of MCPH1 in 2 Brothers with Primary Microcephaly-1

Morteza Hemmat1, Melissa J Rumple2, Loretta W Mahon1, melanie Morrow2, Tamara Zach2, Charles M Strom1, Arturo Anguiano1, Mohamed M Elnaggar1, Boris T Wang1, Fatih Z Boyar1

1Cytogenetics, Quest Diagnostics Inc., USA, 2Banner Child Neurology

Mon(2)-P-159

Two cases with mosaic trisomy 8 and 9 fortuitously detected by conventional G-banding chromosome analysis Importance of conventional chromosome analysis to diagnose mosaicism with low frequency

Satoshi IshikiriyamaDivision of Cytogenetics and Clinical Genetics, Shizuoka Children's Hospital, Japan

Mon(2)-P-160

Structural brain abnormalities associated with deletion at chromosome 2p16.1

Hiroko Shimbo1, Takayuki Yokoi2, Seiji Mizuno3, Hiroshi Suzumura4, Noriko Aida5, Jun-ichi Nagai6, Kazumi Ida2, Yumi Enomoto1, Chihiro Hatano2, Kenji Kurosawa2

1Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan, 2Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, 3Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, 4Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, 5Department of Radiology, Kanagawa Children's Medical Center, Yokohama, 6Laboratory Medicine, Kanagawa Children's Medical Center, Yokohama

Mon(2)-P-161

A study of Williams syndrome in children at Siriraj hospital, Bangkok, Thailand

Achara Sathienkijkanchai, Pattheera Sattabut, Nithiwat Vatanavicharn, Pornswan WasantPediatrics, Faculty of Medicine Siriraj hospital, Mahidol University, Thailand

Mon(2)-P-162

Chromosomal abnormalities in 1354 Japanese patients with azoospermia due to spermatogenic dysfunction

Yasuhiro Kido1, Yuki Fujiwara1, Takeshi Shin2,3, Hiroshi Okada1,2,3

1Genetic Counseling Center, Dokkyo Medical Universitiy Koshigaya Hospital, Japan, 2Department of Urology, Dokkyo Medical University Koshigaya Hospital, 3Reproduction center, Dokkyo Medical University Koshigaya Hospital

Mon(2)-P-163

Maxillofacial morphological characteristics of two Japanese patients with chromosome 18p deletion syndrome

Michiko Tsuji, Kenji Ogura, Rina Hikita, Yukiho Kobayashi, Keiji MoriyamaMaxillofacial Ortthognathics, Tokyo Medical and Dental University, Japan

Mon(2)-P-164

Cytogenetics in the Centre of Excellence for Human Genetics

Alaa K. Kamel1, Amal M Mohamed1, Nivin A Helmy1, Sayda A Hammad1, Hesham K Kayed1, Marwa I Shehab1, Assad S Gerzawy1, Maha M Eid1, Ola M Eid1, Mona K Mekkawy1, Maha S Zaki2, Mona S Aglan2, Ghada E Kammah2, Ghada E Housieny2, Mona O Ruby2, Samia A Temtamy2

1Human Cyrogenetics, National Research Centre, Egypt, 2Clinical Genetics, National Research Centre

Mon(2)-P-165

FGFRL1 is a possible candidate for the severe renal phenotype in a case of Wolf-Hirschhorn syndrome

Yuko Tezuka1, Minenori Eguchi-Ishimae1, Erina Ozaki2,3, Kikuko Murao4, Mariko Eguchi1,2, Eiichi Ishii11Department of Pediatrics, Ehime University Graduate School of Medicine, Japan, 2Division of Medical Genetics, Ehime University Hospital, 3Total Medical Support Center, Ehime University Hospital, 4Division of Pediatrics, Ehime Prefectural Niihama Hospital

Mon(2)-P-166

8q13 microdeletion detected in a Japanese case with mesomelia-synostoses syndrome

Issei Imoto1, Takuya Naruto1, Tomohiro Kohmoto1,2, Hideaki Horikawa1,3, Kiyoshi Masuda1

1Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Japan, 2Student Lab, Tokushima University Faculty of Medicine, 3Support Center for Advanced Medical Sciences, Institute of Biomedical Sciences, Tokushima University Graduate School

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Mon(2)-P-167

Complete 46,XY female of 14 cases and review of the literature

So Yeon Park1, Shin Yeong Lee1, Bom Yi Lee1, Ju Yeon Park1, Eun Young Choi1, Yeon Woo Lee1, Ah Rum Oh1, Jin Woo Kim1, Hyun Mee Ryu1,2

1Laboratoy of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Korea, South, 2Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center

Mon(2)-P-168

A familial case of brain malformation with marker chromosome

Mika Nakajima1, Tohru Ohta2, Takeshi Kida1, Susumu Mizukami11Pediatrics, Hakodate Chuo General Hospital, Japan, 2The Research Institute of Personalized Health Sciences ,Health Sciences University of Hokkaido

Mon(2)-P-169

Inhibition of overactivated PIK3/AKT/mTOR signalling pathway as a therapeutic strategy for PIK3CA-related overgrowth spectrum (PROS)

Yasuyo Suzuki1, Yasushi Enokido2, Kenichiro Yamada1, Naoki Hanada3, Tsuyoshi Morishita4, Seiji Mizuno5, Nobuaki Wakamatsu1

1Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Japan, 2Department of Pathology, Institute for Developmental Research, Aichi Human Service Center, 3Hanada Kodomo Clinic, 4Department of Plastic Surgery, Aichi Children's Health and Medical Center, 5Department of Pediatrics, Central Hospital, Aichi Human Service Center

Mon(2)-P-170

Molecular analysis of partial duplication of the chromosome 21 in two patients presenting Down syndrome phenotype

Hidefumi Tonoki1,3, Nobuhiro Takahashi1, Koji Okuhara1, Susumu Iizuka1, Kadomi Monzaki2, Reishi Fujiyama2, Daisuke Sato3, Yoshio Makita4, Tohru Ohta5

1Pediatrics, Tenshi Hosipital, Japan, 2Genetics Laboratory, Tenshi Hospital, 3Pediatrics, Hokkaido University Graduate School of Medicine, 4Education center, Asahikawa Medical University, 5Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido

Mon(2)-P-171

Ring chromosome 9 with a 9p24.3-p24.1 deletion and 9p24.1-p21.1 duplication in a girl with developmental delay and sex reversal

Yukako Muramatsu1,2, Tamae Ohye3, Tomohiko Nakata1,2, Takashi Hamajima4, Mizuki Ito3, Tomoya Takeuchi2, Masako Izawa4, Hiroki Kurahashi31Pediatrics, Nagoya university graduate school of medicine, Japan, 2Pediatrics, Japanese Red Cross Nagoya Daiichi Hospital, 3Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 4Endocrinology and Metabolism, Aichi Children's Health and Medical Center

Mon(2)-P-172

Possible disruption of cis and trans regulation due to 22q11.2 deletion

Anelisa G. Dantas1, Diego R. Mazzotti2, Vanessa K. Ota1, Adriana Bortolai1, Marcos L. Santoro1, Chong Ae Kim3, Gianna G. Carvalheira1, Sintia N. Belangero1, Maria I. Melaragno1

1Genetics, Universidade Federal de Sao Paulo, Brazil, 2Psychobiology, Universidade Federal de Sao Paulo, 3Genetics, Instituto da Crianca, Universidade de Sao Paulo

Mon(2)-P-173

Chromosomal microarray (CMA) in Brazilian patients with phenotypic alterations and normal G-banding karyotypes

Maria I Melaragno1, Mariana Moyses-Oliveira1, Mileny S Colovati1, Sylvia S Takeno1, Helio R Oliveira-Junior1, Leonardo C dos-Santos1, Anelisa G Dantas1, Natalia N da-Silva1, Leslie D Kulikowski3, Flavia Piazzon2, Vera A Meloni1, Chong A Kim2, Ana B Perez1

1Genetics Department, Universidade Federal de Sao Paulo, Brazil, 2Instituto da Crianca, Universidade de Sao Paulo, 3Department of Pathology, Universidade de Sao Paulo

Mon(2)-P-174

Novel mutations in PDE4D and molecular pathology of acrodysostosis without hormone resistance

Tadashi Kaname1,8, Kumiko Yanagi1,8, Chang-Seok Ki2, Norio Niikawa3, Gen Nishimura4, Nobuo Mastuura5, Manami Iso1,8, Yoko Kuroki1,8, Seiji Mizuno6, Sung Yoon Cho7, Dong-Kyu Jin7, Yoichi Matsubara8

1Department of Genome Medicine, National Center for Child Health and Development, Japan, 2Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, 3Health Sciences University of Hokkaido, 4Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, 5Seitoku University, 6Department of Pediatrics, Central Hospital, Aichi Human Service Center, 7Department of Pediatrics Samsung Medical Center, Sungkyunkwan University School of Medicine, 8National Research Institute for Child Health and Development

Mon(2)-P-175

Subtelomeric rearrangements' detection and characterization by combined use of MLPA kits in intellectual disability patients

Cristina Rusu1, Roxana Popescu1, Mihaela Gramescu1, Elena Braha1, Lacramioara Butnariu1, Monica Panzaru1, Adriana Sireteanu2

1Medical Genetics, University of Medecine and Pharmacy, Romania, 2Molecular Biology Lab, Regional Institute of Oncology, Iasi, Romania

Mon(2)-P-176

Chromosome 6q24-q25 deletion syndrome: a case report

Kiyoko Sameshima1, Kenichi Maruyama2

1Medical Genetics, Gunma Children's Medical Center, Japan, 2Neonatology, Gunma Children's Medical Center

ICHG2016

112

Mon(2)-P-177

Haploinsufficiency of HDAC4 and de novo nonsense mutation ofHDAC8 confirmed by whole exome sequencing

Jeesuk Yu1, Eunwoo Nam1, Seung Heo1, Seung Ho Lee1, Yoonjin Kang2, Taekyeong Yoo2, Murim Choi2, Kyudong Han3

1Pediatrics, Dankook University Hospital, Korea, South, 2Biomedical Sciences, Seoul National University College of Medicine, 3Nanobiomedical Science, Dankook University

Mon(2)-P-178

ELECTRONIC DATABASE OF OROFACIAL CLEFTS - APPROACH AND ADVANTAGES IN HEALTH POLICIES

Elaine L Mendes1, Vera L Gil-da-Silva-Lopes1, Isabella Monlleo2, Roberta M Volpe-Aquino1

1Genetics Departament, State University of Campinas, UNICAMP, Brazil, 2Faculty of Medicine, Federal University of Alagoas

Mon(2)-P-179

a web-based application for validation of A cost-effective INVESTIGATION OF 22q11.2 Deletion syndrome

Elaine L Mendes, Vera L Gil-da-Silva-Lopes, Ilária C Sgardioli, Fabiola P Monteiro, Roberta M Volpe-Aquino, Tarsis P VieiraGenetics Departament, State University of Campinas, UNICAMP, Brazil

Mon(2)-P-180

MICROFORM OF HOLOPROSENCEPHALY AND TYPICAL ORAL CLEFT IN INDIVIDUAL WITH PARTIAL 18Q TRISOMY AND 18P MONOSOMY RESULTING FROM MATERNAL PERICENTRIC INVERSION

Elaine L Mendes, Vera L Gil-da-Silva-Lopes, Ana P dos Santos, Roberta M Volpe-Aquino, Nilma L Viguetti-Campos, Tarsis P VieiraGenetics Departament, State University of Campinas, UNICAMP, Brazil

Mon(2)-P-181

Partial 1q duplication and associated phenotype

Jose E. Baroneza1,2,3, Marcos L. M. Morris1, Patricia Teixeira1, Cristina T. M. Medina4, Mara S Cordoba1, Beatriz R. Versiani5, Liege L. Roese5, Erika L. Freitas6, Ana C. S. Fonseca6, Maria C. G. dos Santos2, Aline Pic-Taylor1, Carla Rosenberg6, Silviene F. Oliveira1, Iris Ferrari7, Juliana F. Mazzeu7

1Genetics and Morphology Departmant, Universidade de Brasilia, Brazil, 2Universidade Federal do Parana, 3Universidade Positivo, 4Health Secretary, Federal District, 5Rede Sarah, 6Universidade de Sao Paulo, 7Medicine Faculty, Universidade de Brasilia

Mon(2)-P-182

De novo NSD1 intragenic microduplication in a Patient with clinical presentation of Sotos syndrome

Eriko Nishi1,2,3, Noriko Kubota3, Michiko Arakawa1,3, Kosuke Izumi1,4, Kyoko Takano1,2, Eiko Hidaka3, Tomoki Kosho1,2

1Division of Medical Genetics, Nagano Children's Hospital, Japan, 2Department of Medical Genetics, Shinshu University School of Medicine, 3Life Science Research Center, Nagano Children's Hospital, 4Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences

Mon(2)-P-183

Identification of Microduplitations on Chromosome 6q22 in A Sporadic Case with Congenital Generalized Hypertrichosis

Yingzhi Huang1, Jiajie Hao2, Xiuli Zhao1, Feng Zhang3, Mingrong Wang2, Xue Zhang1

1McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences - Peking Union Medical College, China, 2State Key Laboratory of Molecular Oncology,Cancer Institute (Hoospital), Chinese Academy of Medical Sciences - Peking Union Medical College, 3State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China

Mon(2)-P-184

Mosaic ring chromosome 21 and monosomy 21 in a patient with anterior ectopic anus and perineal lipoma

Takako Sasaki, Shuichi Yatsuga, Kikumi Ushijima, Miyuki Kitamura, Jyunko Nishioka, Yasutoshi KogaDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Japan

Mon(2)-P-185

Chromosome 8p abnormalities associated with severe global developmental delay: report of two cases

Ina O Focsa1, Magdalena Budisteanu1,2, Andreea C Tutulan-Cunita1, Sorina M Papuc1, Carmen Burloiu2, Ioana Minciu2, Aurora Arghir1

1V.Babes Nathional Institute of Pathology, Romania, 2Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania

Mon(2)-P-186

Whole genomic analysis of Mayer- Rokitansky- Küster- Hauser syndrome

Kazumi Takahashi1,2, Yuko Ohnuki2,3,4, Shingo Suzuki3, Mari Shinoda1,2, Yoshihiro Nishijima1, Akane Kondo1,2,5, Takahiro Suzuki1, Takashi Shiina3, Shunichiro Izumi1,2

1Department of Obstetrics and Gynecology, Tokai University School of Medicine, Japan, 2Department of Clinical Genetics, Tokai University Hospital, 3 Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine,Tokai University School of Medicine, 4Department of Internal Medicine, Division of Neurology, Tokai University School of Medicine, 5Department of Obstetrics and Gynecology, Shikoku Medical Center for Children and Adults

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Mon(2)-P-187

A rare case of Happle-Tinschert syndrome

Mehmet Seven1, Emre Kirat1, Mehmet Bugrahan Duz1, Elif Fenercioglu1, Adnan Yuksel2, Hakan Ulucan1

1Cerrahpasa Medical School of Istanbul University, Turkey, 2Biruni University

Mon(2)-P-188

Ehlers-Danlos syndrome and 22q11.21 microduplication in one patient

Soghra Jougheh Doust, Emily FoxPediatrics, Genetics Program, Peterborough Regional Health Centre, Canada

Clinical Genetic Testing

Mon(2)-P-189

Title Prevalence of the JAK2 V617F mutation in Srinagarind hospital between June 2013 - June 2014

Kanokon Chaicom1, Chitima Sirijerachai1, Kanchana Chansung1, Pinsuda Klangsang1, Boonpeng Palaeng1, Prachub Chaimanee2, Pimjai Ananta2

1Department of Medicine, Medicine Faculty, Department of Medicine, Medicine Faculty KhonKaen University, Thailand, 2Central Laboratory Srinagarind Hospita

Mon(2)-P-190

A case of chromosome 9 trisomy mosaicism not detected by conventional karyotyping or standard aCGH analysis method

Tomonari Awaya1, Kanako Maizuru1, Atsushi Yokoyama1, Minako Ide1, Takeo Kato1, Tohsio Heike1, Hironao Numabe1,2

1Department of Pediatrics, Kyoto University Hospital, Japan, 2Department of Genetic Counselling, Ochanomizu University

Mon(2)-P-191

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Natsuko Arai-Ichinoi1, Mitsugu Uematsu1, Atsuo Kikuchi1, Ryo Sato1, Hiroki Kudo1, Tasuku Suzuki1, Naomi Hino-Fukuyo1, Mitsuyo Matsumoto2,3, Kazuhiko Igarashi2, Kazuhiro Haginoya4, Shigeo Kure1

1Pediatrics, Tohoku University School of Medicine, Japan, 2Biochemistry, Tohoku University Graduate School of Medicine, 3Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 4Pediatric Neurology, Takuto Rehabilitation Center for Children

Mon(2)-P-192

Genome Sequencing Carrier Testing in Preconception Women: Lessons Learned from the First Two Years of the NextGen Study

J A Reiss1, B Wilfond2,3, F Lynch1, T L Kauffman1, J Schneider1, C McMullen1, M C Leo1, J Davis1, M Gilmore1, P Himes1, E Morris1, C S Richards4, S Punj4, G P Jarvik5,6, L Amendola5, D Nickerson6, K AB Goddard1

1Center for Health Research, Kaiser Permanente Northwest, USA, 2Department of Pediatrics, Division of Bioethics, University of Washington, Seattle, WA, 3Truman Katz Center for Pediatric Bioethics, Seattle Childrens Hospital, Seattle, WA, 4Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR, 5Department of Medicine University of Washington, Seattle, 6Department of Genome Sciences, University of Washington, Seattle

Mon(2)-P-193

Identification of Novel mutations in SLC20A2 and PDGFB responsible for primary familial brain calcification

Shingo Koyama, Hidenori Sato, Manabu Wada, Shigeki Arawaka, Toru Kawanami, Takeo KatoYamagata University, Japan

Mon(2)-P-194

Mutational spectrum and genotype-phenotype association in a cohort of Croatian, Serbian and Slovenian patients with hereditary angioedema due to C1 inhibitor deficiency

Mira Silar1, Mitja Kosnik1, Mihaela Zidarn1, Peter Korosec1, Sladjana Andrejevic2, Ljerka Karadza-Lapic3, Drasko Cikojevic4, Marko Baresic5, Matija Rijavec1

1Laboratory for Clinical Immunology and Molecular Genetics, University Clinic for Respiratory and Allergic Diseases Golnik, Slovenia, 2Clinic of Allergology and Immunology, Clinical Center of Serbia, Belgrade, Serbia, 3General Hospital Sibenik, Sibenik, Croatia, 4University Hospital Split, Split, Croatia, 5University Hospital Center Zagreb

Mon(2)-P-195

Universal Lynch Syndrome Screening in an Integrated Health Care System: Results of a 5-Year Study

Jacob A Reiss1, Kathleen A Arlond1, Kellene M Bergen1, Jennifer Cook1, James V Davis1, Elizabeth J Esterberg1, Marian J Gilmore1, Jessica Ezzell Hunter1, Tia L Kauffman1, Cheryl McGinley1, Kristin R Muessig1, Alan F Rope1, Jennifer L Schneider1, Carol Young1, Jamilyn M Zepp1, Louise S Acheson2, Susan K Peterson3, Sapna Syngal4, Georgia L Wiesner5, Katrina AB Goddard1

1Center for Health Research, Kaiser Permanente Northwest, USA, 2Departments of Family Medicine and Community Health, Reproductive Biology, and Oncology, Case Western Reserve University, Cleveland, OH, 3Department of Behavioral Science, University of Texas MD Anderson Cancer Center, Houston, TX, 4Dana-Farber Cancer Institute, Boston, MA, 5Vanderbilt Hereditary Cancer Program, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN

ICHG2016

114

Mon(2)-P-196

From Sanger sequencing to NGS approaches for molecular diagnosis for primary immunodeficiency diseases (PID)

Jing Yang, Wanling Yang, Pamela Pui Wah Lee, Yu Lung LauThe University of Hong Kong, Hong Kong

Mon(2)-P-197

Application of array-based comparative genomic hybridization to pediatric neurologic diseases

Amal M Alhashem, Brahim Tabarki, Bashaer Al BulushiPediatrics, Prince Sultan Military Medical City, Saudi Arabia

Mon(2)-P-198

Diagnostic Utility of Regions of Homozygosity Detected by Chromosome Microarray in Two Cases of Inborn Errors of Metabolism

Roya M Mostafavi1, Asim F Choudhri1,2, Jewell C Ward2,3, Eniko K Pivnick2,3

1Le Bonheur Children's Hospital, USA, 2University of Tennessee Health Science Center, 3UT Le Bonheur Pediatric Specialists

Mon(2)-P-199

Functional Analysis of Three Novel TSC2 Variants Identified in Taiwanese TSC Patients

Da-Chang Chu1,2, Tz-Shiu Tsai2, Jung-Yu Liao1, Ju-Li Lin3, Po-Cheng Hung4

1Department of Medical Biotechnology and Laboratory Science, Chang Gung University, Taiwan, 2Graduate Institute of Biomedical Sciences, Chang Gung University, Tao-Yuan, Taiwan, 3Division of Medical Genetics & Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital, Lin-Kou, Taiwan, 4Department of Pediatric Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan

Mon(2)-P-200

Identification of a Factor VIII Exon 14 novel frame shift mutation c. 2138 delA, p.(N713Tfs*9) in Saudi Arabian patient: Genotype-Phenotype Correlation

Faisal A. Allaf1,2,3, Mohiuddin M. Taher2, Zainularifeen Abduljaleel2, Mohammed Athar2, Halah Abalkhail4, Faisal A. Ba-hammam2, Munir Abdulla2, Abdellatif Bouazzaoui2, Tarek M. Owaidah4

1Medical Genetics, Umm-Al-Qura University, Makkah, KSA, Saudi Arabia, 2Science and Technology Unit, Umm Al-Qura University, Makkah, 3Department of Laboratory Medicine and Blood Bank, King Abdullah Medical City, Makkah, 4Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia

Mon(2)-P-201

Development of a melting curved-based allele-specific PCR of apoliooprotein E (APOE) genotyping method for genomic DNA, Guthrie blood spot and whole blood

Chia-Hsiang Chen1,2

1Chang Gung University, Taiwan, 2Chang Gung Memorial Hospital-Linkou

Mon(2)-P-202

Next generation sequencing-based panel analysis for hereditary connective tissue disorders through the ion PGMTM system

Tomomi Yamaguchi1, Yuki Takahashi2, Masumi Ishikawa1, Emiko Kise1, Motoko Kamiya1,2,3, Kyoko Takano1,2, Katsuya Nakamura1,2, Rie Kawamura2, Keiko Wakui1,2, Yoshimitsu Fukushima1,2, Tomoki Kosho1,2

1Division of Clinical and Molecular Genetics, Shinshu University Hospital, Japan, 2Department of Medical Genetics, Shinshu University School of Medicine, 3Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD Project

Mon(2)-P-203

Indications for first erythrocyte transfusion in patients with upper gastrointestinal bleedings considering the genetic constitution

Sergiy Kharchenko, Sergiy Kobyletskyi, Igor DuzhiyDepartment of Surgery, Radiology and Phthisiology, Medical Institute of Sumy State University, Ukraine

Mon(2)-P-204

From synaptic architecture to epileptic encephalopathy

Gholamreza Shariati, Hamid Galehdari, Mohammad Hamid, Alihossein Saberi, Neda Mazaheri, Tahereh Seifi, Mina Zamani, Javaher ZeighamiNarges laboratory, Iran

Mon(2)-P-205

Next Generation Sequencing based detection of NRXN1 gene mutation in an autistic individual from Southwest Iran

Hamid Galehdari, Gholamreza Shariati, Mohammad Hamid, Alihossein Saberi, Tahere Seifi, neda mazaheri, Mina Zamani, Javaher Zeighami, Alireza SedaghatNarges laboratory, Iran

Mon(2)-P-206

Identification of a rare form of autosomal recessive ataxia by Next Generation Sequencing

Alireza SedaghatJundishapur University, Iran

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Mon(2)-P-207

Comparison of three different methods for heteroplasmy detection of the Mitochondrial DNA 1555A>G mutation

Shayan Wang, Hui Gao, Shanshan Shen, Linkai Wang, Ruanzhang Zhang, Yuhua Hu, Hui Guo, Yumei LinSecond Clinical Medical College of Jinan University, Shenzhen People's Hospital, China

Mon(2)-P-208

Mosaic Ratio Quantification of Isochromosome 12p in Pallister-Killian syndrome using Droplet Digital PCR

Kosuke Izumi1, Katsunori Fujiki1, Maninder Kaur2, Matthew A Deardorff2, Laura K Conlin2, Katsuhiko Shirahige1, Ian D Krantz2

1Laboratory of Genome Structure and Fuction, The University of Tokyo, Institute of Molecular and Cellular Biosciences, Japan, 2Division of Human Genetics, The Children's Hospital of Philadelphia

Mon(2)-P-209

A Collaborated Study of Fragile X syndrome and Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS) for promoting clinical research in Japan

Kaori Adachi1, Tohru Matsuura2, Kazuhiro Ishii3, Yuji Nakayama1, Yu-ichi Goto4, Eiji Nanba1,5,6

1Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan, 2Division of Neurology, Department of Medicine, Jichi Medical University, Shimono, Japan, 3Department of Neurology, Clinical Medicine, University of Tsukuba, Tsukuba, Japan, 4Depart. of Mental Retardation and Birth Defect Research National Institute of Neuroscience, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan, 5Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan, 6Center for Promoting Next-Generation Highly Advanced Medicine Tottori University Hospital, Yonago, Japan

Mon(2)-P-210

Evaluation of Digital PCR for Monitoring of Acute Rejection in Kidney Transplantation

Hyeseon Lee1, Young-Mi Park1, Yu-Mee We1, Duck Jong Han2, Sang-Ho Lee3, Jong-Keuk Lee1

11Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea, South, 2Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea, 3Department of Internal Medicine, Kyung Hee University Hospital at Gangdong, Seoul, Korea

Mon(2)-P-211

HER-2/neu status in paraffin-embedded tissue from breast cancer patients by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) assays

Pitichai PhornsarayuthPathology, Ramathibodi Hospital Faculty of Medicine, Thailand

Mon(2)-P-212

Optimal cutoff value for diagnosis G-6-PD-deficient heterozygous female neonates based on molecular identification of G-6-PD mutations

Suttiphan Kitcharoen1, Supphanan Subin1, Surasak Channara1, Sumalai Dechyotin2, Nappmats Khemtonglang1, Supawadee Yamsri1, Chanudda Kleesuk3

1Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand, 2Graduate School, Khon Kaen University, 3Diagnostic Microscopy Unit, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University

Mon(2)-P-213

A novel COL11A1 mutation affecting splicing in a Japanese patient with Stickler syndrome

Takuya Naruto1, Tomohiro Kohmoto2, Haruka Kobayashi2, Miki Watanabe2, Nana Okamoto3, Kiyoshi Masuda1, Nobuhiko Okamoto4, Issei Imoto1

1Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Japan, 2Student Lab, Faculty of Medicine, Tokushima University, 3Department of Oral and Maxillofacial Surgery, Kobe University graduate School of Medicine, 4Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health

Mon(2)-P-214

Filaggrin mutations in early- and late-onset atopic dermatitis

Peter Korosec1, Helena Rupnik2,3, Katarina Dezman1, Matija Rijavec1

1Laboratory for Clinical Immunology & Molecular Genetics, University Clinic of Respiratory and Allergic Diseases Golnik, Slovenia, 2Department of Dermatovenereology, University Medical Centre Ljubljana, Slovenia, 3Dermatology Centre Arsderma, Ljubljana, Slovenia

Mon(2)-P-215

SUNMAC: A Project for Population Based Screening of Thalassemia and its Mutations in Pakistan

Muhammad Imran Qadeer1,2, Muhammad S Akhtar2,3,4, Muhammad Aslamkhan2,3

1Department of Microbiology and Molecular Genetics, University of the Punjab, Pakistan, 2Sundas Foundation Molecular Analysis Center, Lahore, 3University of Health Sciences, Lahore, 4Gulab Devi Postgraduate Medical Institute, Lahore

Mon(2)-P-216

Relationship between G6PD deficiency and UGT1A1 mutation in neonates with hyperbilirubinemia

Noppmats Khemtonglang1, Suttiphan Kitcharoen2, Pakaphan Kiatchoosakun3, Sumalai Dechyothin1, Chanudda Kleesuk4

1Graduate School, Khon Kaen University, Thailand, 2Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, 3Department of Pediatrics, Faculty of Medicine, Khon Kaen University, 4Diagnostic Microscopy Unit, Faculty of Medicine, Khon Kaen University, Khon Kaen

ICHG2016

116

Mon(2)-P-217

An investigation of definite diagnosis rate for monogenic diseases in the order receiving system of genetic testing

Tomohiro Nakayama1,2, Hiromu Naruse1,3

1Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan, 2Division of Companion Diagnostics, Department of Pathology of Microbiology, Nihon University School of Medicine, 3Health Sciences Research Institute, Inc.

Mon(2)-P-218

Implementation of Genomic Medicine in Sri Lanka

Vajira H.W. Dissanayake, Nirmala Sirisena, Dulika Sumathilala, Kalum Wetthasinghe, Nilaksha Neththikumara, Rohan JayasekaraHuman Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka

Mon(2)-P-219

Next-generation sequencing approach in skeletal dysplasias with prenatal onset: experience of a tertiary center in Brazil

Guilherme L Yamamoto1,2, Carolina Malcher2, Wagner AR Baratela1, Rossana Viera3, Marco Antonio Lopes3, Rachel Honjo1, Chong A Kim1, Maria Rita Passos-Bueno2, Debora R Bertola1,2

1Genetica Medica - departamento de Pediatria, Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Brazil, 2Genetica e biologia evolutiva, Instituto de Biociencias da Universidade de Sao Paulo, 3Obstetricia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo

Mon(2)-P-220

Rapid and accurate genetic testing for CHARGE syndrome based on long-range PCR and Next-Gen high-throughput sequencer

Kumiko Yanagi1, Manami Iso1,2, Akira Ganaha3, Tadashi Kaname1

1Genome Medicine, Center for National Research Institute for child health and development, Japan, 2Pediatrics and Adolescent Medicine, Juntendo University School of Medicine, 3Otorhinolaryngology, Head and Neck Surgery, University of the Ryukyus

Mon(2)-P-221

Toward Objective Interpretation of Sequence Variants

James L. WeberPreventionGenetics, USA

Mon(2)-P-222

Identification of genetic alterations in the APC gene by the use of NGS for patients with polyposis of the colon

Yoichi Furukawa1, Kiyoshi Yamaguchi1, Tsuneo Ikenoue1, Mitsuhiro Komura1, Eigo Shimizu1, Rui Yamaguchi1, Tetsuo Shibuya1, Seiya Imoto1, Satoru Miyano1, Haruhiko Sugimura2, Satoshi Nagayama3

1The Institute of Medical Science, The University of Tokyo, Japan, 2Dept. Tumor Pathology, The School of Medicine, Hamamatsu University, 3Dept. Gastroenterological Surgery, The Cancer Institute Hospital

Mon(2)-P-223

Genomics and precision in variant filtering strategies and phenotypic characterisation for accurate genetic diagnosis in the retinal dystrophies

Benjamin M Nash1,2,3,4, Dale C Wright1,4, Bruce Bennetts1,4, John R Grigg2,3,4, Robyn V Jamieson2,3,4

1Sydney Genome Diagnostics, The Children's Hospital at Westmead, Cnr Hawkesbury Rd and Hainsworth St, Westmead NSW, Australia, 2Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead, Westmead, Australia, 3Save Sight Institute, Sydney, Australia, 4Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia

Mon(2)-P-224

Triaging Patients for Genomic Tests in South Australia: a Multi-disciplinary Team Approach

Janice M Fletcher, Karin S Kassahn, Peter A KaubGenetics & Molecular Pathology, SA Pathology, Australia

Mon(2)-P-225

Alport Syndrome - Interesting Cases and Findings

Evelyn Douglas1, Louisa Sanchez1, Kathy Cox1, Kristian Brion2, Melissa Gurner2, Liam McIntyre3, Paul Henning4, Sam Crafter4, Chris Barnett5, Karin Kassahn3, Kathie Friend1

1Molecular Genetics, Genetics and Molecular Pathology, SA Pathology, Australia, 2National Referral Laboratory, Genetics and Molecular Pathology, SA Pathology, 3Technology Advancement Unit, Genetics and Molecular Pathology, SA Pathology, 4Department of Nephrology, The Women's and Children's Hospital, 5South Australian Clinical Genetics Service, SA Pathology

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Mon(2)-P-226

Experience of introducing chromosome microarray analysis as a diagnostic tool in a clinical genetics service in Brasilia, Brazil

Juliana F Mazzeu1,2, Maria Teresa AS Rosa2, Claudiner P Oliveira3, Rafael Bonadio4, Bianca F dos Reis3, Beatriz R Versiani2, Rosenelle Araujo2, Heloisa PN Safatle2, Mara S Cordoba2, Iris Ferrari1,2, Rinaldo W Pereira5, Aline Pic-Taylor4, Silviene F Oliveira4

1Faculty of Medicine, Universidade de Brasilia, Brazil, 2Hospital Universitario de Brasilia, Brasilia, Brazil, 3Secretaria de Estado de Saude-DF, Brasilia, Brazil, 4Instituto de Ciencias Biologicas, Universidade de Brasilia, Brasilia, Brazil, 5Universidade Catolica de Brasilia, Brasilia, Brazil

Mon(2)-P-227

The Medical Genome Reference Bank - Whole genome sequencing of 4,000 healthy elderly individuals

Marcel E Dinger1,2, David T Thomas1,2

1Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Australia, 2St Vincents Clinical School, Faculty of Medicine, UNSW

Mon(2)-P-228

Targeted next-generation sequencing panel assay in a patient with bilateral hands postaxial polydactyly: Identification of one novel and one reported CENPJ mutations

Chia-Cheng Hung1,2, Yi-Ning Su1,2,3

1Sofiva Genomics Co., Ltd., Taiwan, 2Phoebus Genetics Co., Ltd., 3Dianthus Maternal Fetal Medicine Clinic

Mon(2)-P-229

Retrospective evaluation of rare benign CNVs detected by chromosomal microarray

Keiko Wakui1,2, Tomoki Kosho1,2,3, Kyoko Takano1,2,3, Kenji Shimizu1,4, Yoko Narumi-Kishimoto1,2, Eriko Nishi3, Seiji Mizuno5, Tomomi Yamaguchi2, Rie Kawamura1, Hirofumi Ohashi4, Yoshimitsu Fukushima1,2

1Medical Genetics, Shinshu University School of Medicine, Japan, 2Clinical and Molecular Genetics, Shinshu University Hospital, 3Medical Genetics, Nagano Children's Hospital, 4Medical Genetics, Saitama Children's Medical Center, 5Pediatrics, Central Hospital, Aichi Human Service Center

Mon(2)-P-230

Identification of copy number aberration in hereditary cancer susceptibility genes using data from next generation sequencing

Ja-Hyun Jang1, Taeheon Lee2, Junnam Lee2, Junghoon Park2, Eunhae Cho2

1Green Cross Laboratories, Korea, South, 2Green Cross Genome

Mon(2)-P-231

Molecular Diagnostics using Genomics: Our Experiences & Success Stories in Inherited Disorders from Over a Hundred Cases in India

Nandita Mullapudi1, Sudha N Rao1, Gautam Singh1, Honey Reddi21Dhiti Omics Technologies Private Limited, India, 2Transgenomic Inc.

Mon(2)-P-232

Fragile X premutation screening in Korean women

Kyung Min Kang1, Ji Eun Park1, Se Ra Sung1, Sun Ok Park1, Sang Woo Lyu2, Dong Hyun Cha1,2, Sung Han Shim1

1Genetics Laboratory of Fertility Center, CHA University School of Medicine, Korea, South, 2Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University

Mon(2)-P-233

The clinical utility of whole exome sequencing in clinical practice: detecting mosaic post-zygotic mutations in neonates

John M Taylor1, Tracy Lester1, Jon Williams1, Jenny Taylor2, Jenny Carmichael3, Andrea Nemeth4, Usha Kini4, Edward Blair4, Hugh Watkins2,5, Anneke Sellar1

1Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Trust, UK, 2Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, 3Department of Clinical Genetics, Northampton General Hospital, Northampton, 4Department of Clinical Genetics, Churchill Hospital, Oxford University NHS Hospitals Trust, Oxford, 5Department of Cardiovascular Medicine, University of Oxford, Oxford

Mon(2)-P-234

Whole Exome Sequencing as a diagnostic Tool to Identify Novel Mutations in 3M syndrome

Asuman Koparir1, Erkan Koparir2, Omer Faruk Gerdan3, Betul Yuceturk3, Mahmut Samil Sagiroglu3, Adnan Yuksel4, Mustafa Ozen1,4,5

1Istanbul University, Turkey, 2Department of Medical Genetics, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul Turkey, 3Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey, 4Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey, 5Department of Pathology and Immunology, Baylor College of Medicine, Houston, USA

Mon(2)-P-235

Utilisation of Non-invasive prenatal testing to exclude an unbalanced karyotype in a translocation carrier's pregnancy: A case study

Alison Yeung3, Nikki Gelfand1, Theresa Boomer2, Nilesh Dharajiya2, Marcos Gonzales2

1Monash Genetics, Monash Health, Australia, 2Sequenom Laboratories, 3Vicorian Clinical Genetics Services

ICHG2016

118

Mon(2)-P-236

Diagnostic Application of Targeted Exome Sequencing for Skeletal Dysplasia

Eun Kyung Cho1, A Ram Yang1, Jinsup Kim1, Young Bae Sohn2, Su Jin Kim3, Sung Won Park4, Sung Yoon Cho1, Dong-kyu Jin1

1Department of Pediatrics, Samsung Medical Center, Korea, South, 2Department of Medical Genetics, Ajou University School of Medicine, 3Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, 4Department of Pediatrics, Jeil Hospital, Dankook University College of Medicine

Mon(2)-P-237

Prenatal clinical and molecular (epi-) genetic diagnosis of Beckwith-Wiedemann syndrome: time to shift gears?

Maria Paola R. Lombardi1, Suzanne C.E.H. Sallevelt2, Audrey B.C. Coumans3, Ingrid Witters3, Kim J.A.F. van Kaam2, Salwan Al-Naseri3, Yvonne H.J.M. Arens2, Christine E.M. de Die-Smulders2, Mariëlle Alders1, Merryn V.E. Macville2, Marcel M.A.M. Mannens1, Suzanna G.M. Frints2

1Department of Clinical Genetics, University of Amsterdam, Netherlands, 2Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands, 3Department of Gynecology & Obstetrics, Maastricht University Medical Center+, Maastricht, The Netherlands

Mon(2)-P-238

A method for large scale screening of sex chromosome aneuploidies at birth

Marisol Ibarra-Ramirez1, Luis D Campos-Acevedo1, Jose J Lugo-Trampe1, Michelle Zamudio-Osuna1, Iris Torres-Munoz1, Viviana M Gomez-Puente1, Gloria B Garcia-Castaneda1, Patricia Arredondo-Vazquez2, Iram P Rodriguez-Sanchez2, Isabel Moreno-Vega1, Jesus Z Villarreal-Perez2, Laura E Martinez-Garza1

1Genetics, Medicine School Of Universidad Autonoma de Nuevo Leon, Mexico, 2Secretaria de salud de Nuevo Leon

Cardiovascular Genetics

Mon(2)-P-240

Molecular genetic risk scale of coronary artery disease (CELERA, USA) and sudden cardiac death: a case-control study

Anastasiya A. Ivanova1, Vladimir N. Maksimov1,4, Pavel S. Orlov1,2, Divara E. Ivanoshchuk1,2, Sergey V. Savchenko3,4, Mikhail I. Voevoda1,2

1Federal State Budgetary of Scientific Institution Institution of Internal and Preventive Medicine, Russia, 2Institute of Cytology and Genetics, Siberian Branch under the Russian Academy of Sciences, 3Novosibirsk Regional Office of Forensic Medical Examination, 4Novosibirsk State Medical University

Mon(2)-P-241

Detection and Putative Functional Effect of Variants in Congenital Heart Defects -Related Genes

Alaaeldin G Fayez, Nora N Esmaiel, Ghada S Nor El deen, Arwa A El Darsh, Mona O El RubyMolecular Genetics and Enzymology, National Research Centre, Egypt

Mon(2)-P-242

Genetics and Environment: Impact of Ethnicity, Age and Sex on Heritability of Cardiometabolic and Inflammatory Risk Traits

Enkhmaa Byambaa1, Anuurad Erdembileg1, Wei Zhang1, Kyoungmi Kim2, Lars Berglund1,3

1Internal Medicine, University of California - Davis, USA, 2Public Health Sciences, University of California - Davis, 3Veterans Affairs Northern California Health Care System, Sacramento, USA

Mon(2)-P-243

The First Genetic Epidemiological Study of North Cyprus: Genetic Mapping of Cardiovascular Diseases and Using Those Variants as a Biomarker

Mahmut Cerkez Ergoren1,2, Esra Ozerkan2, Arda Gursel2, Aysegul Bostanci2, Meral Kizilkanat21Medical Genetics, Near East University, Cyprus, 2Medical Genetic Laboratory, Near East University Hospital

Mon(2)-P-244

Incidence of homozygous familial hypercholesterolaemia (hoFH) in New Zealand

Andrew D Laurie1, Peter M George1,2, Nicola Reid2

1Molecular Pathology, Canterbury Health Laboratories, New Zealand, 2Lipid Disorders Clinic, Christchurch Public Hospital

Mon(2)-P-245

Analysis of genotype-phenotype correlations for desmoplakin mutations

Wanling Yang, Jing Yang, Pamela Pui-wah Lee, Yu Lung LauThe University of Hong Kong, Hong Kong

Mon(2)-P-246

Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing

Jing Xu1, Zhongshan Li2, Xianguo Ren3, Ming Dong1, Jinxin Li1, Xingjuan Shi1, Yu Zhang1, Wei Xie1, Zhongsheng Sun2,4, Xiangdong Liu1, Qiming Dai51Insititute of Life Science, Southeast University, Nanjing, China, 2Genomic Medical Institute, Wenzhou Medical University, Wenzhou, P. R. China, 3General Hospital of Nanjing Military Command, P. R. China, 4Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, P. R. China, 5ZhongDa Hospital, Southeast University, Nanjing, P. R. China

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Mon(2)-P-247

Interaction of maternal age and MTHFR C677T polymorphism increases the risk of co-occurrence of Down syndrome and congenital heart disease

S. Justin Carlus1, Lama M El-Attar1,2, Sahar AF Hammoudah1,3, Atiyeh M Abdallah1, Lvks Bhaskar4, Ibrahim S. Almuzainy5, Khalid M Al Harbi11Cardiogenetics team- Pediatric Cardiology, College of Medicine, Taibah University, India, 2Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt, 3Department of Clinical Pathology, School of Medicine, Tanta University, Egypt, 4Sickle Cell Institute Chhattisgarh, JNM Medical College, Raipur (C.G.), India, 5Department of Pediatric Cardiology, Maternity and Children Hospital, Madina, Kingdom of Saudi Arabia

Mon(2)-P-248

IL10 promoter polymorphisms are associated with rheumatic heart disease in Saudi Arabian patients

Khalid M Al Harbi1, Atiyeh M Abdallah1, Abdulhadi H Al-Mazroea1, Amr E Eldardear1, Yousef Almohammadi2, S. Justin Carlus1

1Cardiogenetics Team- Department of Pediatrics, College of Medicine, Taibah University, Saudi Arabia, 2Security Forces Medical Centre, Madinah, Saudi Arabia

Mon(2)-P-250

Targeted Resequencing of 174 Genes in Patients with Inherited Cardiovascular Diseases for Future Clinical Utility

Akiyoshi Ogimoto1, Mareomi Hamada2, Shuntaro Ikeda2, Kiyotaka Ohshima2, Hideaki Shimizu2, Haruhiko Higashi1, Naohito Tokunaga1, Jun Suzuki1, Katsuji Inoue1, Kazuhisa Nishimura1, Takayuki Nagai1, Jun Aono1, Teruyoshi Uetani1, Chiharuko Iio1, Tamami Kono1, Fumiyasu Seike1, Hiroshi Kawakami1, Yasuharu Tabara3, Jitsuo Higaki11Ehime University Graduate School of Medicine, Japan, 2Uwajima City Hospital, 3Kyoto University Graduate School of Medicine

Mon(2)-P-251

Tight junction gene CLDN8 were associated with plasma chemokine IP-10 level in methadone maintenance patients

Sheng-Wen Liu1, Hsiang-Wei Kuo1, Sheng-Chang Wang1, Chia-Lung Shih1, Yu-Li Liu1,2

1Center for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan, 2Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan

Mon(2)-P-252

Among RyR2 carriers, sinus bradycardia is more frequent in CPVT than other types of phenotype

Seiko Ohno, Minoru HorieShiga University of Medical Science, Japan

Mon(2)-P-253

Analysis of Moyamoya disease associated genetic variant RNF213 c.14576G>A in various cerebrovascular diseases

Satoru Miyawaki1, Hideaki Imai1, Masahiro Shimizu2, Shinichi Yagi2, Hideaki Ono1, Akitake Mukasa1, Hirofumi Nakatomi1, Tsuneo Shimizu2, Nobuhito Saito1

1Department of Neurosurgery, The University of Tokyo, Japan, 2Kanto Neurosurgical Hospital

Mon(2)-P-254

A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy: The first clinical and molecular report of an Indonesian patient

Almira Zada1, Chaerul Ahmad2, Mardlatillah Affani2, Erwan Martanto2, Augustine Purnomowati2, Toni Aprami21Biochemistry and Molecular Biology, Faculty of Medicine Universitas Padjadjaran, Indonesia, 2Department of Cardiology, Faculty of Medicine Universitas Padjadjaran

Mon(2)-P-255

Hypertrophic Cardiomyopathy - Retrospective Analysis 18 Months On

Kathy R Cox1, Evelyn Douglas1, Sin Lay Kang1, Liam McIntyre2, Gemma Correnti3, Eric Haan3,4, Kathryn Friend1

1Molecular Genetics, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, Adelaide, Australia, 2SA Pathology at Royal Adelaide Hospital, Adelaide, Australia, 3South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital, Adelaide, Australia, 4School of Medicine, University of Adelaide, Adelaide, Australia

Mon(2)-P-256

DNA copy number and copy-neutral changes in patients with both coronary artery disease and metabolic comorbidity

Aleksei Sleptcov1,2, Maria S. Nazarenko1,2, Igor N. Lebedev1,2, Nikolay A. Skryabin1,2, Anton V. Markov1,2, Aleksei V. Frolov3, Olga L. Barbarash3, Valery P. Puzyrev1,2

1Laboratory of Population Genetics, Research Institute of Medical Genetics, Russia, 2Tomsk State University, 3Research Institute for Complex Problems of Cardiovascular Diseases

Mon(2)-P-257

Mutations in the BMPR2 Gene in Patients with Heritable Pulmonary Arterial Hypertension

Yuki Aimi1,2, Yuichi Momose1, Tomomi Hirayama1,2, Masaharu Kataoka1,3, Masae Ono4,5, Hideaki Yoshino1, Toru Satoh1, Shinobu Gamou2

1Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Japan, 2Department of Molecular Biology, Kyorin University School of Health Sciences, 3Department of Cardiology, Keio University School of Medicine, 4Department of Pediatrics, Kyorin University School of Medicine, 5Pediatrics Department, Tokyo Teishin Hospital

ICHG2016

120

Mon(2)-P-258

Polygenic risk score of 45 coronary artery disease risk variants is associated with the progression of coronary artery calcification - Results of the Heinz Nixdorf Recall Study

Sonali Pechlivanis1, Nils Lehmann1, Amir A Mahabadi2, Raimund Erbel1,2, Per Hoffmann3,4, Karl-Heinz Joeckel1, Markus M Noethen3, Susanne Moebus1,5, Heinz Nixdorf Recall Study Investigative Group1Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Germany, 2Department of Cardiology, West-German Heart Centre, University Hospital of Essen, University Duisburg-Essen, Germany, 3Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany, 4Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland, 5Centre for Urban Epidemiology, University Hospital Essen, Essen, Germany

Mon(2)-P-259

Genome wide array analysis of patients with conotruncal heart defects in the Kingdom of Bahrain

Cristina Skrypnyk1, Neale Kalis2, Sara Al-Othman1, Ghada Al-Kafaji11Al Jawhara Center for Molecular Medicine, Kingdom of Bahrain, Arabian Gulf University, College of Medical Sciences, Bahrain, 2MK Cardiac Center, Bahrain Defense Force Hospital, Kingdom of Bahrain

Mon(2)-P-260

Exome sequencing in 111 Czech families with inherited cardiovascular diseases

Hana Hartmannova1, Lenka Piherova1, Katerina Hodanova1, Viktor Stranecky1, Anna Pristoupilova1, Nikola Ptakova3, Alice Krebsova2, Milos Kubanek2, Vojtech Melenovsky2, Tomas Palecek4, Milan Macek3, Stan Kmoch1

1Institute of Inherited Metabolic Disorders, Charles University of Prague, First Faculty of Medicine, Czech Republic, 2Department of Cardiology, Institute for Clinical and Experimental Medicine-IKEM, Prague, Czech Republic, 3Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic, 4Department of Cardiovascular Medicine, 1st Faculty of Medicine, Charles University in Prague, Czech Republic

Mon(2)-P-261

Uncoupling associations of the Apolipoprotein B locus alleles with lipids, myocardial infarction, and survival

Alexander Kulminski, Yelena Kernogitski, Irina Culminskaya, Yury Loika, Konstantin Arbeev, Olivia Bagley, Matt Duan, Liubov Arbeeva, Svetlana Ukraintseva, Deqing Wu, Eric Stallard, Anatoliy YashinDuke University, USA

Mon(2)-P-262

Genetic Analysis using next-generation sequencing in Brugada Syndrome

Yoshinori Katsumata1, Yoshiyasu Aizawa1, Seiji Takatsuki1, Kenjiro Kosaki2, Keiichi Fukuda1

1Department of Cardiology, Keio University, Japan, 2Center of Medical Genetics, Keio University

Mon(2)-P-263

A PDE3A mutation in familial hypertension and brachydactyly syndrome

Hidehito Inagaki1, Hiroko Boda2, Hidetoshi Uchida2, Nobue Takaiso1, Yuya Ouchi3, Naoko Fujita3, Asami Kuno3, Tadayoshi Hata4, Arisa Nagatani2, Yuri Funamoto2, Masafumi Miyata2, Tetsushi Yoshikawa2, Hiroki Kurahashi1,3

1ICMS, Division of Molecular Genetics, Fujita Health University, Japan, 2Department of Pediatrics, Fujita Health University, 3Genome and Transcriptome Analysis Center, Fujita Health University, 4Faculty of Medical Technology, School of Health Science, Fujita Health University

Mon(2)-P-264

Functional Characterization of mir-1297 and mir-3179 in ABCA1 and Apo-A1 genes involved in Reverse Cholesterol Transport (RCT) and Cholesterol Efflux (CE)

Sarah Penafrancia L Coralde, Reynado L Garcia, Arjelle D Agupitan National Institute of Molecular Biology and Biotechnology, University of the Philippines-Diliman, Philippines

Mon(2)-P-265

20-HETE Regulates the Expression of Nedd4-2 in Kidney via Neddylation

Yanyan Zhao, Jianzhu Zhao, Bijun Zhang, Runhong XUDepartment of Clinical Genetics, Shengjing Hospital of China Medical University, China

Mon(2)-P-266

Apolipoprotein E is Associated with Coronary Artery Disease in Asian-Filipinos

Arielle Kae L Sulit1, Mark Anthony D Luz1, Khristine Amber C Pasion1, William S Chua2, Maria Luisa G Daroy1, Fabio Enrique B Posas2, The Genomics and Cardiovascular Medicine Initiative Study Group1Research and Biotechnology Group, St. Luke's Medical Center, Philippines, 2Heart Institute, St. Luke's Medical Center, Philippines

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Mon(2)-P-267

Associations of the polymorphisms wihtin the CRP and IL1ß genes with acute cardiovascular events in patients with multivessel coronary artery disease

Anastasiia V. Ponasenko, Yuliya V. Bayrakova, Mariya V. Khutornaya, Yana V. Kazachek, Olga L. BarbarashRussian Academy of Sciences, Research Institute for Complex Issues of Cardiovascular Diseases, Russia

Mon(2)-P-268

Mutations in an actin filament nucleation gene predispose individuals to thoracic aortic aneurysms and dissections

Alex Y.B Wan1, Michael A Simpson2, Jose A Aragon-Martin1, Bijan Modarai3, Daniel Osborn4, Jaipreet Bharj4, Anand Saggar5, James F Sneddon6, Elizabeth M Fisher7, Marjan Jahangiri8, Dianna M Milewicz9, Alberto Smith3, Elijah R Behr1, Anne H Child1

1Cardiovascular and Cell Sciences Research Institute, St. George's Hospital, University of London, United Kingdom, St George's University of London, UK, 2Genomic Medicine Group, Division of Genetics and Molecular Medicine, Kings College London, United Kingdom, 3Academic Department of Vascular Surgery, Cardiovascular Division, BHF Centre of Research Excellence, King's College London, 4Human Genetics Research Centre, St. George's Hospital, University of London, United Kingdom, 5Clinical Genetics Unit, St George's University of London, United Kingdom, 6Spire Gatwick Park Hospital, Horley, United Kingdom, 7The Park Surgery, Horsham, West Sussex, United Kingdom, 8Department of Cardiothoracic Surgery, St. George's Healthcare NHS Trust, London, United Kingdom, 9Department of Internal Medicine, University of Texas, USA

Metabolic Disorders

Mon(2)-P-269

Neuronal ceroid lipofucinosis type CLN2: Clinical presentation, Enzyme analysisand Genotype study in 7 cases from India

Jayesh J Sheth1, Riddhi Bhavsar1, Mahesh Kamate2, Raju Shah3, Harshuti Shah4, Sanjiv Mehta5, Mehul Mistry1, Frenny Sheth1

1Dr. Kalam's centre of excellence for rare disease study, Foundation for Research in Genetics and Endocrinology (FRIGE) and Institute of Human Genetics, India, 2Child Development Centre, KLES PrabhakarKore Hospital, Belgaum, India, 3Ankur Neonatal Nursery, Nr. Citi Gold Cinema, Ashram Road, Ahmedabad-India, 4Rajvee Child Neurology Hospital, Ahmedabad, India, 5Usha Deep Neurology Hospital, Ahmedabad, India

Mon(2)-P-270

Extended newborn screening program in Chile (NESPC)

Silvia Castillo Taucher1,2

1Seccion Genetica, Hospital Clinico Universidad de Chile, Chile, 2Seccion Citogenetica, Laboratorio Clinica Alemana de Santiago, Vitacura, Santiago, Chile

Mon(2)-P-271

9 YEARS OLD GIRL SUFFERING FROM WILSON DISEASE HAS ONLY ONE HETEROZYGOTE LYS1010THR MUTATION IN ATP7B GENE

Nguyen T.M Huong1, Ngo D Ngoc1, Nguyen T.P Mai1, Tran V Khanh3, Ta T Van3, Nguyen P.A Hoa2, Phan V Chi4, Le T Hai1,2

1Human Genetics Department, National Hospital of Pediatrics, Vietnam, 2Hepatology Department, 3Gene and Protein Center, Hanoi Medical University, 4Institute of Biotechnology

Mon(2)-P-272

Screening of MCAD deficiency in Japan: 15 years' experience of enzymatic and genetic evaluation

Go Tajima1, Miyuki Tsumura1, Reiko Kagawa1, Satoshi Okada1, Keiichi Hara2, Nobuo Sakura3, Ikue Hata4, Yosuke Shigematsu5

1Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, Japan, 2Department of Pediatrics, National Hospital Organization Kure Medical Center, 3Suzugamine Nursing House for Sever Motor and Intellectual Disabilities, 4Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 5Department of Health Science, Faculty of Medical Sciences, University of Fukui

Mon(2)-P-273

An intergraded tandem mass spectrometry method for the quantitations of disaccharides derived from dermatan, heparan, and keratan sulfates in urine applied for the diagnosis of mucopolysaccharidosis

Chih-Kuang Chuang1, Hsiang-Yu Lin2, Tuen-Jen Wang1,3, Sung-Fa Huang3, Shuan-Pei Lin1,2

1Medical Research Department, MacKay Memorial Hospital, Taiwan, 2Pediatrics Department, MacKay Memorial Hospital, 3Department of Clinical Laboratory Medicine, MacKay Memorial Hospital

Mon(2)-P-274

Severe glutathione synthetase deficiency: clinical outcome after a 6-year follow-up

Jirat Chenbhanich1, Rungnapa Ittiwut2,3, Vorasuk Shotelersuk2,3, Kanya Suphapeetiporn2,3

1Faculty of Medicine, Chulalongkorn University, Thailand, 2Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, 3Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society

ICHG2016

122

Mon(2)-P-275

A newborn patient with carbonic anhydrase VA deficiency presenting with hyperammonemic encephalopathy

Shoko Komatsuzaki1, Dorothea Haas1, Christian Staufner1, Holger Pokisch2,3, Tobias Haack2,3, Stefan Koelker1

1Department of Neuropediatrics and Inherited Metabolic Disorders, University Children's Hospital Heidelberg, Germany, 2Institute of Human Genetics, Helmholtz Zentrum Muenchen, 3Institute of Human Genetics, Technische Universitaet Muenchen

Mon(2)-P-276

Microbial enzymes contaminate urine in newborn urine and alter the results of metabolic screening

John A. Duley1,3, Michael G. Henman2, David M. Cowley3, George Marshall21School of Pharmacy, University of Queensland, Australia, 2Mater Health Services, Brisbane, 3Mater Research Institute, University of Queensland

Mon(2)-P-277

Find-GEMS (Gaucher patients in Epilepsy and MyoclonuS): Screening for Gaucher's disease with enzyme assay among patients with early-onset seizures

Kimitoshi Nakamura, Ken Momosaki, Shirou Matsumoto, Hiroshi Mitsubuchi, Fumio EndoPediatrics, Kumamoto University, Japan

Mon(2)-P-278

Unexpected persistent gastrointestinal mucosal infiltration of Gaucher cells in identical twin patients with non-neuronopathic Gaucher disease despite long-term enzyme replacement therapy

Yoo-Mi Kim1, Dong Hoon Shin2, Su Bum Park3, Su Bum Gu-Hwan Kim4, Chong Kun Cheon1, Han-Wook Yoo4

1Department of Pediatrics, College of Medicine, Pusan National University Children's Hospital,Yangsan, Korea, South, 2Department of Pathology, College of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea, 3Department of Internal Medicine, College of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea, 4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Mon(2)-P-279

Lysine homocysteinylation inactivates ATR pathway and contributes to colorectal cancer onset

Jian-Yuan Zhao1,2,3, Dan Wang5, Shi-Min Zhao1,2,3,4

1School of Life Sciences, Fudan University, China, 2State Key Lab of Genetic Engineering, Fudan University, 3Collaborative Innovation Center for Genetics and Development, Fudan University, 4Institutes of Biomedical Sciences, Fudan University, 5Children Hospital, Fudan University

Mon(2)-P-280

Clinical and laboratory evaluation of patients with mucopolysaccharidosis types I, II and VI receiving Enzyme Replacement Therapy (ERT)

Chong Ae Kim1,2, Lilian M J Albano2, Diogo C Q Soares2, Rachel S Honjo2, Stephanie P Pegler2, Debora R Bertola2, Jose F S Franco2

1Pediatrics, Instituto da Criança, Brazil, 2Pediatrics, Instituto da Crianca

Mon(2)-P-281

Evaluation of Wilson`s disease in patients with a primary diagnosis other than WD: an inspiration for reviewing the course of Robert Schumann´s illness

Teodor Podskarbi1, Yoon Shin2

1Molecular Genetics and Metabolism Laboratory, Germany, 2University of Munich, Lindwurmstr Munich, Germany

Mon(2)-P-282

Cytokine profile of patients with Gaucher disease type I and its response to enzyme replacement therapy

Filippo Vairo1,3, Fernanda Sperb-Ludwig2,3, Kristiane Michelin-Tirelli1, Cristina Netto1, Eurico C Neto4, Ida V.D. Schwartz1,2,3,5

1Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil, 2Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, 3BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, 4CTN - Centro de Triagem Neonatal, Porto Alegre, 5Department of Genetics, Universidade Federal do Rio Grande do Sul

Mon(2)-P-283

Molecular and clinical heterogeneity in pyruvate dehydrogenase complex deficiency: the role of high throughput sequencing approach

Elzbieta Ciara1, Dariusz Rokicki1, Paulina Halat1, Dorota Piekutowska-Abramczuk1, Agnieszka Karkucinska-Wieckowska1, Johannes Mayr2, Joanna Trubicka1, Edyta Szymanska1, Dorota Jurkiewicz1, Maciej Pronicki1, Malgorzata Krajewska-Walasek1, Wolfgang Sperl2, Rafal Ploski3, Ewa Pronicka1

1The Children's Memorial Health Institute, Poland, 2Paracelsus Medical University, Salzburg, Austria, 3Warsaw Medical University, Warsaw, Poland

Mon(2)-P-284

Investigation of clinical differences between MODY1 and MODY3 in Japanese

Mayumi Enya, Yukio Horikawa, Kenichi Hashimoto, Jun TakedaGifu university, Japan

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Mon(2)-P-285

In search for low excretor genotype in Indian patients with Glutaric Acidemia Type I

Kruthika-Vinod T.P, Shaik MuntajNeurochemistry, National Institute of Mental Health and Neuroscience, Bangalore, India

Mon(2)-P-286

Therapeutic effects of dietary supplementation with glycine, L-carnitine, or both in combination in isovaleric acidemia

Yasutsugu Chinen1, Inokuchi Takahiro2

1Pediatrics, Faculty of Medicine, University of the Ryukyus, Japan, 2Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine

Mon(2)-P-287

New indexes of neonatal tandem mass-screening for early detection of citrin deficiency (NICCD)

Hiroko Shigetomi, Toju Tanaka, Mayuko Morii, Masayoshi NagaoCenter for Pediatric Genetics & Metabolic disorder, Clinical Research, NHO Hokkaido Medical Center, Japan

Mon(2)-P-288

Utility of CCL18/PARC and Heparin Cofactor II - Thrombin for diagnosis and monitoring of Lysosomal Storage Disorders

Sanjeev Kumar Pandey1, Jyotsna Verma1, Ishwar Chander Verma1, Seema Kapoor2

1Biochemical Genetics Division, Sir Ganga Ram Hospital, India, 2Pediatrics Research & Genetic Lab, Maulana Azad Medical College

Mon(2)-P-289

KLF14 involves in controlling inflammation in the white adipose tissue

Chiharu Tayama1, Rieko Takanashi2, Junko Tomikawa1, Hajime Okita1, Kenichiro Hata1, Tadashi Okamura2, Kazuhiko Nakabayashi11National Research Institute for Child Health and Development, Japan, 2National Center for Global Health and Medicine

Mon(2)-P-290

POLG-related disorders in Polish population - a comprehensive study

Dorota Piekutowska-Abramczuk1, Magdalena Kaliszewska2, Katarzyna Tonska2, Anna Sulek3, Marketa Tesarova4, Joanna Pera5, Joanna Trubicka1, Elzbieta Ciara1, Dorota Jurkiewicz1, Magdalena Pelc1, Pawel Kowalski1, Paulina Halat1, Dariusz Rokicki6, Rafal Ploski7, Malgorzata Krajewska-Walasek1, Ewa Pronicka1,6

1Medical Genetics, The Children's Memorial Health Institute, Poland, 2Institute of Genetics and Biotechnology, Faculty of Biology, Warsaw, Poland, 3Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland, 4Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Czech Republic, 5Department of Neurology, Jagiellonian University Medical College, Krakow, Poland, 6Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland, 7Department of Medical Genetics, Medical University in Warsaw, Poland

Mon(2)-P-291

A long term follow-up study of 8 individuals with asymptomatic propionic acidemia

Yoriko Watanabe1,2, Kaori Fukui1, Naomi Harada1, Kyoko Tashiro2, Go Tajima3, Toru Yorifuji4, Yosuke Shigematsu5, Yasuhiro Maeda6, Yoko Nakajima7, Takahiro Inokuchi2, Naohisa Uchimura2

1Pediatrics and Child Health, Kurume University, Japan, 2Research Institute of GC/MS, Kurume University, 3Pediatrics, Hiroshima University, 4Ped Endo Metab Osaka City Gen Hosp, 5Dept. Health Science, Fukui University, 6Lab Hosp Pharm, Nagoya City University, 7Dept. Pediatrics, Fujita Health University

Mon(2)-P-292

Mutation Spectrum of Japanese Patients with Fabry Disease - Correlation between genotype and phenotype

Masahisa Kobayashi1, Toya Ohashi2, Yoshikatsu Eto3, Hiroyuki Ida1

1Department of Pediatrics, The Jikei University School of Medicine, Japan, 2Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, 3Advanced Clinical Research Center and Institute of the Treatment of Genetic Diseases, Institute of Neurological Diseases

Mon(2)-P-293

Analysis of ABCG2 allelic variants in primary gout

Blanka Stiburkova1,2, Pavel Simek1, Pavel Cepek1, Jakub Zavada1, Lenka Petru1, Karel Pavelka1

1Molecular Biology and Immunogenetics, Institute of Rheumatology, Czech Republic, 2Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

ICHG2016

124

Mon(2)-P-294

PNPLA4 is a novel causative gene for mitochondrial respiratory chain disorder presenting with apparent life-threatening event

Hiromi Nyuzuki1,2, Yoshihito Kishita1, Yoshimi Tokuzawa1, Masakazu Kohda3, Kei Murayama4, Akihiko Saitoh2, Akira Ohtake5, Yasushi Okazaki1,3

1Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Japan, 2Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, 3Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, 4Department of Metabolism, Chiba Children's Hospital, 5Department of Pediatrics, Saitama Medical University

Mon(2)-P-295

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations

Chaoxia Lu1, Zhengqing Qiu2, Miao Sun1,3, Wei Wang2, Min Wei2, Xue Zhang1

1McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China, 2Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 3Institute for Fetology, the First Affiliated Hospital of Soochow University

Mon(2)-P-296

Two Filipino siblings with Glutaric Aciduria Type 1

Barbra Charina V. Cavan, Dubhe Prescila O. SanchezPediatrics, Cebu Doctors' University Hospital, Philippines

Mon(2)-P-297

Biochemical and molecular characteristics of Korean children with citrin deficiency

Jae-Min Kim1, Beom Hee Lee1,2, Seak Hee Oh2, Gu-Hwan Kim1, Jin-Ho Choi2, Kyung Mo Kim2, Han-Wook Yoo1,2

1Medical Genetics Center, Asan Medical Center, Korea, South, 2Department of Pediatrics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine

Mon(2)-P-298

Diverse clinical phenotypes of mitochondrial trifunctional proteindeficiencyaccording to mutations in HADHA and HADHB

Gu-Hwan Kim1, Eungu Kang2, Beom Hee Lee1,2, In Hee Choi1, Jin-Ho Choi2, Han-Wook Yoo1,2

1Medical Genetics Center, Asan Medical Center, Korea, South, 2Department of Pediatrics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine

Mon(2)-P-299

A Nationwide Survey on Fabry disease in Korea

In Hee Choi1, BeomHee Lee1,2, Eungu Kang2, JaHyang Cho2, Gu-Hwan Kim1, Jin-Ho Choi2, Han-Wook Yoo1,2

1Medical Genetics Center, Asan Medical Center, Korea, South, 2Department of Pediatrics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine

Mon(2)-P-300

Combined Effect of Celastrol and Chemical Chaperone on glucocerebrosidase (GBA) activities of skin fibroblasts from Gaucher patients

Sun Hee Heo1, Beom Hee Lee1,2, Gu-Hwan Kim2, In Hee Choi2, Han-Wook Yoo1,2

1Asan Institute for Life Sciences, Asan Medical Center, Korea, South, 2Medical Genetics Center, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Seoul, Korea

Mon(2)-P-301

Clinical And Molecular Updates Of Infantile Systemic Hyalinosis In Arab Populations

Sahar AF Hammoudah2, Lama M.A. El-Attar1

1Human Genetics Department, Medical Research Institute, Saudi Arabia, 2Department of Clinical and Chemical Pathology, Tanta University

Mon(2)-P-302

Analysis of inverted chromosome from phosphoglucomutase 1 deficiency patient

Tamae Ohye1, Haruna Mizukami1, Yohei Katsuragawa1, Naoko Fujita2, Yoko Nakajima3, Hidehiko Akiyama1, Tetsuya Ito3, Hiroki Kurahashi21Department of Clinical Hematology, Faculty of Medical Technology, Fujita Health University, Japan, 2Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 3Department of Pediatrics, Fujita Health University School of Medicine

Mon(2)-P-303

Mutational Analysis of Egyptian Morquio Patients

Ekram M.A. Fateen1, Mona L Essawy2, Mona Sabry3, Mona I Mahmoud4, Hanan A Attia5, Nora R Essa6

1Biochemical Genetics, National Research Centre, Egypt, 2Medical Molecular Genetics, National Research Centre, Egypt, 3Clinical Genetics, National Research Centre, Egypt, 4Biochemical Genetics, National Research Centre, Egypt, 5Faculty of Pharmacy, Alazhar University, Egypt, 6Medical Molecular Genetics, National Research Centre, Egypt

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Mon(2)-P-304

NEWBORN SCREENING FOR MUCOPOLYSACCHARIDOSES: DETERMINATION OF SENSITIVITY, SPECIFICITY AND CUTOFF VALUES

Adriana M Montano1,6, Katherine E. Foerster1, Qi Gan1, Mary Campbell2, Shunji Tomatu3, Tadao Orii4, Yasuyuki Suzuki4, Seiji Yamaguchi51Pediatrics, Saint Louis University, USA, 2CWHM, Saint Louis University, 3Alfred I. Dupont Children's Hospital, 4Gifu University, 5Shimane University, 6Biochemistry and Molecular Biology, Saint Louis University

Mon(2)-P-305

Development of a Less Immunogenic Protein for Enzyme Replacement Therapy of Morquio A Disease

Adriana M Montano1,2, Alexandria Lee1, Catalina Sosa1, Michael Flanagan1, Qi Gan1

1Pediatrics, Saint Louis University, USA, 2Biochemistry and Molecular Biology, Saint Louis University

Mon(2)-P-306

Age-dependent gene expression profile analysis in Morquio cartilage tissue

Adriana M Montano1,2, Shane Grace1, Shiragi Patel1, Catalina Sosa1, Qi Gan1

1Pediatrics, Saint Louis University, USA, 2Biochemistry and Molecular Biology, Saint Louis University

Mon(2)-P-307

Evaluation of Homocysteine Levels in Cuban Patients with Homocystinuria and Methylmalonic Aciduria by HPLC

Alina Concepcion, Ivette Camayd, Lauro NuevasLaboratory of Biochemical Genetics, National Center of Medical Genetics, Cuba

Mon(2)-P-308

Galsulfase hypersensitivity and desensitization of mucopolysaccharidosis VI patients

Ana Maria Martins, Vania D'Almeida, Carolina Aranda, Carmen Mendes, Luis Felipe Ensina, Dirceu SolePediatrics, Universidade Federal de Sao Paulo, Brazil

Mon(2)-P-309

The little things that matter: A qualitative study of the disease management experiences of caregivers of children with inherited metabolic diseases

Beth K Potter1, Shabnaz Siddiq1, Brenda J Wilson1, Ian D Graham1, Monica Lamoureux2, Sara D Khangura1, Kylie Tingley1, Laure Tessier2, Sarah Wafa3, Natalia Yuskiv4, Pranesh Chakraborty2, Anne-Marie Laberge5, Chitra Prasad6, John J Mitchell3, Kathy N Speechley6, Komudi Siriwardena7, Yannis Trakadis3, Rebecca Sparkes8, Alette Giezen4, Jagdeep Walia9, Robin Hayeems10, with Shailly Jain, Alberta Children's Hospital; Cheryl R. Greenberg, University of Manitoba; and on behalf of the Canadian Inherited Metabolic Diseases Research Network1University of Ottawa, Canada, 2Children's Hospital of Eastern Ontario, 3Montreal Children's Hospital, 4BC Children's Hospital, 5CHU, Hopital Sainte-Justine, 6Western University, 7University of Alberta, 8Alberta Children's Hospital, 9Queen's University, 10The Hospital for Sick Children

Mon(2)-P-310

Altered pre-mRNA splicing due to novel intronic mutation c.1443+5G>A in the dihydropyrimidinase (DPYS) gene

Yoko Nakajima1, Judith Meijer2, Chen Zhang3, Xu Wang4, Tetsuya Ito1, Andre B.P. Van Kuilenburg2

1Pediatrics, Fujita Health University School of Medicine, Japan, 2Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, 3Research and Development, MILS International, Kanazawa, 4Beijing Children Hospital, Beijing, China

Mon(2)-P-311

A novel, hybrid method of blue and clear native polyacrylamide gel electrophoresis (BCN-PAGE): a minimally invasive method to detect electron transport chain abnormalities in cultured skin fibroblasts in patients with mitochondrial disease

Christopher Newell1, David Sinasac2, Floyd Snyder2, Stacey Hume3, Rebecca Sparkes2,4, Aneal Khan2,4, Iveta Sosova5

1Department of Medical Science, Cumming School of Medicine, University of Calgary, Calgary, Canada, 2Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada, 3Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada, 4Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada, 5Departments of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada

ICHG2016

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Mon(2)-P-312

Plasma cell-free mitochondrial DNA: A novel and non-invasive method to detect mutations in mitochondrial DNA

Christopher Newell1, Stacey Hume2, Steven C Greenway3,4,5, Aneal Khan4,5,6

1Department of Medical Science, Cumming School of Medicine, University of Calgary, Calgary, Canada, 2Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada, 3Department of Cardiac Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada, 4Departments of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada, 5Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada, 6Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

Mon(2)-P-313

Sulfated disaccharides improve the iduronate-2-sulfatase function in fibroblasts from patient with mucopolysaccharidosis type II

Hiroo Hoshina1,2, Yohta Shimada2, Takashi Higuchi2, Hiroshi Kobayashi1,2, Yoshikatu Eto1,3, Hiroyuki Ida1,2, Toya Ohashi1,2

1Department of Pediatirics, Jikei Univ Sch of Med, Japan, 2Div of Gene Thera, Res Cent for Med Sci, Jikei Univ Sch of Med, 3Adv Clin Res Cent, Insti of Neur Dis

Mon(2)-P-314

Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): diagnostic algorithm and best practice guidelines for a timely diagnosis

Emanuela Izzo1, Moeenaldeen AlSayed2, Derek Burke3, Jessica Cohen-Pfeffer1, Jonathan D Cooper4, Lenka Dvorakova5, Michael Fietz6, Roberto Giugliani7, Helena Jahnova5, Zoltan Lukacs8, Sara Mole9, Ines Noher de Halac10, David Pearce11, Angela Schulz12, Nicola Specchio13, Winnie Xin14, Nicole Miller1

1Scientific Affairs, BioMarin Pharmaceuticals Inc, USA, 2Department of Medical Genetics, Alfaisal University and King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, 3Chemical Pathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, London, UK, 4Institute of Psychiatry, Psychology, Neuroscience, Kings College London, London, UK, 5Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic, 6Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Australia, 7Servico de Genetica Medica HCPA, Departamento de Genetica UFRGS, Porto Alegre, RS Brazil, 8Newborn screening and Metabolic Diagnostics unit, Hamburg University Medical Center, Hamburg, Germany, 9Molecular Cell Biology, MRC Laboratory for Molecular Cell Biology, University College London, London, UK, 10Universidad Nacional de Cordoba, Facultad de Ciencias Medicas, Cordoba, Argentina, 11Sanford Children Health Research Center, Sioux Falls, USA, 12Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, 13Department of Neuroscience, Bambino Gesu; Children Hospital, Rome, Italy, 14Neurogenetics DNA Diagnostic Lab, Massachusetts General Hospital, Harvard Medical School, Boston, USA

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