Volume 23 Supplement 1 June 2015 www.nature.com/ejhg European Human Genetics Conference 2015 June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts EJHG_OFC.indd 1 4/1/2006 10:58:05 AM ABSTRACTS European Human Genetics Conference joint with the British Society of Genetics Medicine June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts ESHG 2015 | GLASGOW, SCOTLAND, UK | WWW.ESHG.ORG 1 ABSTRACTS Committees – Board - Organisation European Society of Human Genetics ESHG Office Executive Board 2014-2015 Scientific Programme Committee European Society President Chair of Human Genetics Helena Kääriäinen, FI Brunhilde Wirth, DE Andrea Robinson Vice-President Members Karin Knob Han Brunner, NL Tara Clancy, UK c/o Vienna Medical Academy Martina Cornel, NL Alser Strasse 4 President-Elect Yanick Crow, FR 1090 Vienna Feliciano Ramos, ES Paul de Bakker, NL Austria Secretary-General Helene Dollfus, FR T: 0043 1 405 13 83 20 or 35 Gunnar Houge, NO David FitzPatrick, UK F: 0043 1 407 82 74 Maurizio Genuardi, IT E: [email protected] Deputy-Secretary-General Daniel Grinberg, ES www.eshg.org Karin Writzl, SI Gunnar Houge, NO Treasurer Erik Iwarsson, SE Andrew Read, UK Xavier Jeunemaitre, FR Mark Longmuir, UK Executive Officer Jose C. Machado, PT Jerome del Picchia, AT Dominic McMullan, UK Giovanni Neri, IT William Newman, UK Minna Nyström, FI Pia Ostergaard, UK Francesc Palau, ES Anita Rauch, CH Samuli Ripatti, FI Peter N. Robinson, DE Kristel van Steen, BE Joris Veltman, NL Joris Vermeesch, BE Emma Woodward, UK Karin Writzl, SI Board Members Liaison Members Yasemin Alanay, TR Stan Lyonnet, FR Martina Cornel, NL Martijn Breuning, NL Julie McGaughran, AU Ulf Kristoffersson, SE Pascal Borry, BE Bela Melegh, HU Thomas Liehr, DE Nina Canki-Klain, HR Will Newman, UK Milan Macek Jr., CZ Ana Carrió, ES Markus Nöthen, DE Tayfun Ozcelik, TR Isabella Ceccherini, IT Markus Perola, FI Milena Paneque, PT Angus John Clarke, UK Dijana Plaseska-Karanfilska, MK Hans Scheffer, NL Koen Devriendt, BE Trine E. Prescott, NO Heather Skirton, UK Munis Dundar, TR Inga Prokopenko, UK GertJan B. van Ommen, NL Francesca Forzano, IT Hans Scheffer, NL Brunhilde Wirth, DE Peter Kroisel, AT Jörg Schmidtke, DE Dorit Lev, IL Heather Skirton, UK Further information on structure and organisation can be found on the website www.eshg.org Future European Human Genetics Conferences European Human Genetics Conference 2016 European Human Genetics Conference 2018 Barcelona, Spain Milan, Italy May 21 – 24, 2016 June 16 – 19, 2018 1967 – 2017: 50th Anniversary of the ESHG The European Human Genetics Conference 2017 Copenhagen, Denmark May 27 – 30, 2017 2 ESHG 2015 | GLASGOW, SCOTLAND, UK | WWW.ESHG.ORG ABSTRACTS TABLE OF CONTENTS Spoken Presentations 4 Plenary Lectures................................................................................................................PL1.1 – PL5.1 ..................... 4 Concurrent Symposia ........................................................................................................S01.1 – S16.3 ..................... 6 Educational Sessions ........................................................................................................ES1.1 – ES9.2 .................... 14 Concurrent Sessions .........................................................................................................C01.1 – C23.6 .................... 17 Posters 52 P01. Reproductive Genetics/Prenatal Genetics ..................................................................P01.01-91 ........................ 52 P02. Sensory Disorders (Eye, Ear, Pain) ............................................................................P02.01-62 ........................ 72 P03. Internal Organs & Endocrinology (Lung, Kidney, Liver, Gastrointestinal) ...................P03.01-41 ........................ 85 P04. Skeletal, Connective Tissue, Ectodermal and Skin Disorders ....................................P04.01-78 ........................ 94 P05. Cardiovascular Disorders ............................................................................................P05.01-85 .......................111 P06. Metabolic and Mitochondrial Disorders .......................................................................P06.01-70 ...................... 129 P07. Immunology and Hematopoetic System .....................................................................P07.01-25 ...................... 145 P08. Intellectual Disability ....................................................................................................P08.01-73 ...................... 151 P09. Neurogenetic and Psychiatric Disorders ...................................................................P09.001-138 .................... 166 P10. Neuromuscular Disorders ...........................................................................................P10.01-40 ...................... 196 P11. Multiple Malformation/Anomalies Syndromes ...........................................................P11.001-138 .................... 205 P12. Cancer Genetics .......................................................................................................P12.001-146 .................... 236 P13. Basic Mechanisms In Molecular and Cytogenetics .....................................................P13.01-41 ...................... 267 P14. New Diagnostic Approaches, Technical Aspects & Quality Control ..........................P14.001-110 .................... 275 P15. Personalized/Predictive Medicine and Pharmacogenomics .......................................P15.01-36 ...................... 298 P16. Omics/Bioinformatics ..................................................................................................P16.01-63 ...................... 307 P17. Epigenetics and Gene Regulation ...............................................................................P17.01-37 ...................... 320 P18. Genetic Epidemiology/Population Genetics/Statistical Methodology and Evolutionary Genetics .................................................................................................P18.01-96 ...................... 328 P19 Genetic Counselling/Education/Public Services .........................................................P19.01-59 ...................... 349 P20. Psychological/Ethical/Legal Issues .............................................................................P20.01-28 ...................... 361 Published Abstracts J01.01 - J20.02 367 Abstracts of the Sixth International Workshop on the History of Human Genetics 479 Indices 484 Keyword Index .............................................................................................................................................................484 Author Index ................................................................................................................................................................498 Click on the topics in the table of content to jump to the according page. Abstracts highlighted with are talks of Young investigator Candidates. Abstracts highlighted with are ESHG Poster Award Candidates. ESHG 2015 | GLASGOW, SCOTLAND, UK | WWW.ESHG.ORG 3 ABSTRACTS PLENARY LECTURES Back to index PLENARY LECTURES - - PL1.1 Introduction: Möbius syndrome (MBS) is a rare congenital neurological dis Chromosome conformation and long-distance gene regulation order characterized by facial and abducens nerve paralysis. Additional con N. Benabdallah1, S. Bhatia1, I. Williamson1, W. Bickmore2; genital anomalies are frequently associated. The etiology of this syndrome 1MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, United Kingdom, has been intensely debated and both teratogenic factors and genetic causes- 2Edinburgh, United Kingdom. have been suggested. However, despite numerous clinical and molecular investigations since the description of the first patients in 1880 it has re mained elusive. Long-range gene regulation first became apparent in mammalian genomes Material and Methods: We hypothesized that de novo mutations contribute- through Mendelian disease genetics associated with extreme phenotypes- to the MBS phenotype and therefore performed exome sequencing in eight in human, and developmental genetics in the mouse. It is now appreciated isolated MBS patients. All identified de novo variants were subsequently se that long-range enhancers - found as far away as 1 megabase from their tar quenced in a cohort of 103 MBS patients. The role of two candidate genes in get gene and located either in intergenic regions or in introns - are key in- MBS was addressed by morphological analysis of the knockout mouse brain.- controlling the precise spatial and temporal expression of genes. Deletion, Results: We report de novo mutations in two different genes PLXND1 and translocation or point mutations can abrogate the function of these ele REV3L. Analysis of the Plxnd1 and Rev3l-knockout mice detected neuro- ments in Rare Disease. However, the majority of human genetic variation pathological findings similar to those found in MBS. Strikingly, both mouse associated with common and complex disease and quantitative traits also models exhibited a reduced number of motoneurons in the facial motor nu maps to intergenic regions that are likely the site of enhancers. Therefore, cleus, caused by defective neural migration in the Plxnd1-mutant mice or lessons learnt from studying enhancer dysfunction in rare disease will be disrupted cellular proliferation in Rev3l-heterozygous mice. Conclusions:- important