Concurrent Sessions C07 - C12 - Monday, June 10 - 13.15 - 14.45 hrs

RoomGrand AmphithéatreAmphithéatre , BleuAmphithéatre BordeauxSalle MaillotRoom 252ABRoom 242ABRoom 243

C08. Intellectual disability: Gene discovery and dysfunction

C09. Population-based sequencing

C10. Genetic Counselling, Education and Public Services

C11. Molecular mechanisms in tumorigenesis

C12. Connective tissue disorders: Gene identification

C13. Neurodegenerative disorders: From gene discovery to therapy

C14. Sensory disorders and Immunological disorders

13.15

C08.1 Mutations in the microtubule-associated protein EML1/Eml1 lead to ectopic progenitors during cortical development and heterotopia in mouse and human

Françoise Phan Dinh Tuy, Michel Kielar, Cécile Lebrand, Karine Poirier, Robert Olaso, Sara Bizzotto, Katia Boutourlinsky, Nadia Bahi-Buisson, Anne Gaëlle Le Moing, Camino de Juan, Victor Borrell, Patrick Berquin, Wassila Carpentier, Egbert Welker, Jamel Chelly, Alexandre Croquelois, Fiona Francis; Institut du Fer à Moulin, INSERM UMR-S 839, Université Pierre et Marie Curie, Paris, France

C09.1 Exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes

Thomas Sparso, Kirk Lohmueller, Qibin Li, Ehm Andersson, Thorfinn Korneliussen, Anders Albrechtsen, Karina Banasik, Niels Grarup, Ingileif Hallgrimsdottir, Kristoffer ´Kiil, Tuomas Kilpeläinen, Nikolaj Krarup, Tune Pers, Gaston Sanchez, Torben Jørgensen, Annelli Sandbæk, Torsten Lauritzen, Karsten Kristiansen, Søren Brunak, Yingrui Li, Torben Hansen, Jun Wang, Rasmus Nielsen, Oluf Pedersen; The Novo Nordisk Foundation center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark

C10.1 From personal genetic counseling to public health screening: The BRCA Opportunity

Sari Lieberman, Ariela Tomer, Avraham Ben-Chetrit, Oded Olsha, Todd Zalut, Amnon Lahad, Ephrat Levy-Lahad; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel

C11.1 The 3D topographic mapping of genetic variations in treatment naïve advanced ovarian cancer

Mirjam S. de Pagter, Marlous Hoogstraat, Geert A. Cirkel, Jennifer Kreeftmeijer, C C. Lee, E Levandowsky, Tanisha Guy, Karen Duran, Ruben van 't Slot, G N. Jonges, Stef van Lieshout, Martijn P. Lolkema, P O. Witteveen, Ronald P. Zweemer, Marco J. Koudijs, Ies J. Nijman, Emile E. Voest, Timothy T. Harkins, Edwin Cuppen, Wigard P. Kloosterman; UMC Utrecht, Utrecht, Netherlands

C12.1 Congenital poikiloderma, fatty infiltration of muscles and pulmonary fibrosis: a new syndrome caused by a new gene

Sandra Mercier, Sébastien Küry, Nonhlanhla Khumalo, Darren Houniet, Emmanuelle Salort-Campana, Nathalie Bodak, Valérie Cormier-Daire, Gasnat Shaboodien, Jean-Marie Mussini, Albert David, Sébastien Barbarot, Bernard Keavney, Bongani Mayosi, Stéphane Bézieau; INSERM UMR1089, Atlantic Gene Therapy Institute, University of Nantes, Nantes, France

C13.1 Alteration of lipid metabolism in hereditary spastic paraplegia 26

Emeline Mundwiller, Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Imen Rekik, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Andreas Ferbert, Marion Gaussen, Andres Caballero Oteyza, Sylvie Forlani, Chokri Mhiri, Ludger Schols, Guy Rouleau, Wilson Marques Junior, C Depienne, Alexis Brice, Frédéric Darios, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin; Ecole Pratique des Hautes Etudes, Paris, France

C14.1 ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Lucas Fares Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gerard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Dominique Bremond-Gignac, Lionel Brétillon, Christine Bole-Feyssot, Patrick Nitschke, Patrick Nitschke, Arnold Munnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean-Michel Rozet; INSERMU781, Fondation IMAGINE, Paris Descartes University, Paris, France

13.30

C08.2 Mutations in DEAF1 cause intellectual disability with severe speech impairment

Anneke T. Vulto-van Silfhout, Bonnie Nijhof, Philip Jensik, Christiane Zweier, Joep de Ligt, Bregje W. van Bon, Dorien Lugtenberg, Joris A. Veltman, Hans van Bokhoven, Han G. Brunner, Anita Rauch, Lisenka E. Vissers, Michael W. Collard, Annette Schenck, Björn Menten, Bert B. de Vries; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands

C09.2 Haplotype sharing reveals fine-scale demographic history

Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe'er, The Genome of the Netherlands Consortium; Columbia University, New York City, NY, United States

C10.2 Drivers, barriers and opportunities for genetic testing services in emerging economies: the GenTEE (Genetic Testing in Emerging Economies) project

Irmgard Nippert, Arnold Christianson, Dafne D. Horovitz, Randa Kamal Raouf, Carmencita D. Padilla, Victor Penchaszadeh, Anna Rajab, Ishwar C. Verma, Nanbert Zhong, Laura Gribaldo, Ulf Kristoffersson, Joerg Schmidtke; Universitätsklinikum Münster, Münster, Germany

C11.2 The Genomic Landscape of Somatic Mutations in Subtypes of Germinal-Center derived B-cell Lymphomas

Matthias Schlesner, Julia Richter, Ole Ammerpohl, Stephan H. Bernhart, Arndt Borkhardt, Benedikt Brors, Birgit Burkhardt, Alexander Claviez, Martin Dreyling, Sonja Eberth, Jürgen Eils, Roland Eils, Siegfried Haas, Martin-Leo Hansmann, Kebriah Hezaveh, Jessica Hoell, Steve Hoffmann, Michael Hummel, Dennis Karsch, Wolfram Klapper, Jan Korbel, Ulrike Kostezka, Markus Kreuz, Dieter Kube, Ralf Küppers, David Langenberger, Chris Lawerenz, Ellen Leich, Dido Lenze, Peter Lichter, Markus Loeffler, Peter Moeller, Bernhard Radlwimmer, Sylwester Radomski, Marius Rohde, Philip Rosenstiel, Andreas Rosenwald, Maciej Rosolowski, Markus Schilhabel, Stefan Schreiber, Peter F. Stadler, Monika Szczepanowski, Lorenz Trümper, Marc Weniger, Reiner Siebert; Inst. of Human Genetics, University Kiel, Kiel, Germany

C12.2 TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Wilhelmina S. Kerstjens-Frederikse, Ernie M. Bongers, Marcus T. Roofthooft, Edward M. Leter, J. Menno Douwes, Arie Van Dijk, Anton Vonk-Noordegraaf, Krista K. Dijk-Bos, Lies H. Hoefsloot, Elke S. Hoendermis, Johan J. Gille, Birgit Sikkema-Raddatz, Robert M. Hofstra, Rolf M. Berger; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands

C13.2 WDR45 de novo mutations cause of a clinically distinct, X-linked subtype of NBIA

Tobias B. Haack, Penelope Horgath, Allison Gregory, Michael C. Kruer, Thomas Wieland, Thomas Schwarzmayr, Anett Walther, Lynn Sanford, Manju A. Kurian, Barbara Garavalgia, Nardo Nardocci, Valeria Tiranti, Tim M. Strom, Thomas Meitinger, Susan J. Hayflick, Holger Prokisch; Insititute of Human Genetics, Helmholtz Zentrum Munich, Munich, Germany

C14.2 Mutations in the Nuclear NAD+ synthesising enzyme NMNAT1 cause Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy

Sylvain Hanein, Isabelle Perrault, Xavier Zanlonghi, Valérie Serre, Michael Nicouleau, Sabine Defoort-Delhemmes, Nathalie Delphin, Lucas Fares Taie, Sylvie Gerber, Olivia Xerri, Catherine Edelson, Alice Glodenberg, Alice Duncombe, Guylène LeMeur, Christian Hamel, Eduardo Silva, Patrick Nitschke, Patrick Calvas, Arnold Munnich, Olivier Roche, Hélène Dollfus, Josseline Kaplan, Jean-Michel Rozet; INSERMU781, Fondation IMAGINE, Paris Descartes University, Paris, France

13.45

C08.3 Mutations in TTI2 reveal a role for Triple T complex in human brain development

Maéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, Sébastien Moutton, Karine Siquier-Pernet, Marie Fernet, Patrick Nitschke, Arnold Munnich, Marc-Henri Stern, Malika Chaouch, Laurence Colleaux; INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France

C09.3 Signatures of selection in the Genome of the Netherlands Project

Clara C. Elbers*, Sara L. Pulit*, Laurent C. Francioli, Androniki Menelaou, Paul I. de Bakker, Genome of the Netherlands Consortium, * these authors contributed equally; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands

C10.3 Incidental findings in research: National Health Service Research Ethics Committee member perspectives.

Leigh M. Jackson, Lesley Goldsmith, Anita O'Connor, Heather Skirton; Plymouth University, Plymouth, United Kingdom

C11.3 FAS/FASL Pathway is impaired in chordoma and is involved in notochord development and regression

Luca Ferrari, Anna Pistocchi, Angela Calastretti, Laura Libera, Nicola Boari, Gianfranco Canti, Pietro Mortini, Franco Cotelli, Paola Riva; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy

C12.3 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

Sandra M. Pasternack, Melanie Refke, Elham Paknia, Hans Christian Hennies, Thomas Franz, Niklas Schäfer, Alan Fryer, Maurice van Steensel, Elizabeth Sweeney, Miquel Just, Clemens Grimm, Roland Kruse, Carlos Ferrándiz, Markus M. Nöthen, Utz Fischer, Regina C. Betz; Institute of Human Genetics, University of Bonn, Bonn, Germany

C13.3 A stop mutation in WDR81 causes microcephaly with variable penetrance.

Sebahattin Cirak, Britt-Sabina Peterson, YoonJeung Chang, Abdou ElSharawy, Paula Alexandre, Katharina Schoner, Axel Pagenstecher, Gaia Gestri, Suganthi Suren, Dianne Gerrelli, Alexander Volk, Peter Nurnberg, Steve Wilson, John Clarke, Beate Albrecht, Wieland Huttner, Deborah Morris-Rosendahl, Goekhan Uyanik, Andre Franke, Thomas Voit; Childrens National Medical Centre, Washington, DC, United States

C14.3 Identification of new genes for Hereditary Hearing Loss (HHL) using linkage studies and Whole Exome Sequencing analysis

Diego Vozzi, Giorgia Girotto, Flavio Faletra, Khalid Abdulhadi, Dragana Vuckovic, Angela D'Eustacchio, Moza Khalifa Alkowari, Ramin Badii, Paolo Gasparini; IRCCS-Burlo Garofolo Children Hospital, Univ-Trieste, Trieste, Italy

14.00

C08.4 Involvement of kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

Marjolein H. Willemsen, Wei Ba, K Poirier, Willemijn M. Wissink-Lindhout, Lisenka E. Peart-Vissers, Arjan P. de Brouwer, Hans van Bokhoven, Jamel Chelly, Vera Kalscheuer, Neal Nadif-Kasri, Tjitske Kleefstra; Donders Institute for Brain, Cognition and Behaviour, RUMC, Nijmegen, Netherlands

C09.4 The impact of genetic variation on lipid traits from whole exome sequences of 10,000 individuals: the T2D-GENES Consortium

Inga Prokopenko, Heather M. Highland, Xueling Sim, Anubha Mahajan, Alisa Manning, Manuel Rivas, G Atzmon, S Choi, Belinda K. Cornes, Adam Locke, Jose C. Florez, Pierre Fontanillas, N Palmer, Eric R. Gamazon, I.-S Huh, H K. Im, J Kim, Y J. Kim, Cecilia M. Lindgren, Tanya M. Teslovich, Timothy M. Frayling, Josée Dupuis, James B. Meigs, Andrew P. Morris; WTCHG, University of Oxford, Oxford, United Kingdom

C10.4 Preferences for priority setting criteria in genetic testing: a discrete choice experiment

Franziska Severin, Wolfgang Hess, Jörg Schmidtke, Axel Mühlbacher, Peter Meyer, Wolf Rogowski; Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Health Economics and Health Care Management (IGM), Neuherberg, Germany

C11.4 SDHB Mutations link pheochromocytoma/ paraganglioma malignancy to epithelial to mesenchymal transition, both in human tumors and in SDHB-/- Chromaffin cells

Céline Loriot, Mélanie Domingues, Adeline Berger, Nelly Burnichon, Cosimo Martinelli, Laure Vescovo, Eric Letouzé, José-Alain Sael, Lionel Larue, Anne-Paule Gimenez-Roqueplo, Judith Favier; Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine, Paris, France

C12.4 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause distal arthrogryposis type 5

Gunnar Houge, Bertrand Coste, Richard L. Maas, Alexander Hoischen, Shamil R. Sunyaev, Ardem Patapoutian; Haukeland University Hospital, Bergen, Norway

C13.4 Chromatin structure, transcription and CAG instability in Huntington's disease

Agathi-Vasiliki Goula, Agnieszka Stys, Jackson Chan, Yvon Trottier, Richard Festenstein, Karine Merienne; IGBMC, UMR 7104, Strasbourg, France

C14.4 A founder mutation in ULFIN, a new gene on chromosome 16q22.1, in patients with spinocerebellar ataxia type 4 (SCA4)

Diana Braunholz, Felicitas Kählitz, Ingrid Braenne, Yorck Hellenbroich, Stephanie Tennstedt, Petra Buse, Philip Seibler, Gabriele Gillessen-Kaesbach, Jeanette Erdmann, Christine Zühlke, Frank J. Kaiser; Institut für Humangenetik Lübeck, Lübeck, Germany

14.15

C08.5 Abnormal expression of sex biased genes in PCDH19-female limited epilepsy and intellectual disability (PCDH19-FLE) suggests a role for neurosteroid hormones.

Chuan Tan, Chloe Shard, Kim Hynes, Evelyn Douglas, Lam S. Nguyen, Mark Corbett, Grant Buchanan, Enzo Ranieri, Renzo Guerrini, Carla Marini, Samuel F. Berkovic, Ingrid E. Scheffer, Jozef Gecz; SA Pathology, North Adelaide, Australia

C09.5 Exome sequence analysis of type 2 diabetes in over 10,000 samples from five ancestry groups: the T2D-GENES Consortium.

Manuel A. Rivas, Tanya M. Teslovich, Andrew Morris, Pierre Fontanillas, Anubha Mahajan, Xueling Sim, Jason Flannick, Noel P. Burtt; University of Oxford, Oxford, United Kingdom

C10.5 Effects of multifaceted oncogenetics training for general practitioners

Elisa J. Houwink, Lidewij Henneman, Arno M.M. Muijtjens, Sarah R. van Teeffelen, Jan-Joost Rethans, Liesbeth van der Jagt, Geert-Jan Dinant, Cees van der Vleuten, Connie T. Schrander-Stumpel, Hanne Meijers-Heijboer, Martina C. Cornel; School for Public Health and Primary Care, Department of General Practice, Maastricht University, Maastricht, Netherlands

C11.5 MicroRNAs as possible initiators and drivers for microsatellite unstable colorectal tumours

Nizar El-Murr, Magali Svrcek, Kristell Wanherdrick, Thécla Lesuffleur, Alex Duval; UPMC - Université Pierre et Marie Curie - Paris 6, Paris, France

C12.5 Defective initiation of glycosaminoglycan synthesis due to mutations in B3GALT6 causes a pleiotropic connective tissue disorder with severe alterations in proteoglycan assembly and collagen fibrillogenesis

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Mehri-Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Van Hauwaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Ingrid Hausser, Ann Huysseune, Sylvie Fournel-Gigleux, Anne De Paepe; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

C13.5 A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1.

Elisa Giorgio, Daniel Robyr, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Daniele Imperiale, Cristiana Atzori, Alfredo Brusco, Stylianos E. Antonarakis, Alessandro Brussino; University of Torino-Dep Medical Sciences, Torino, Italy

C14.5 U1 snRNP interference with polyadenylation - a new pathomechanism for unclassified 3'UTR mutations

Jörg Langemeier, Max Radtke, Christoph Klein, Jens Bohne; Hannover Medical School, Hannover, Germany

14.30

C08.6 Identification of Single-minded 2 (Sim2) binding sites by ChIP-Seq, understanding of the regulatory network of chromosome 21 transcription factors

Audrey Letourneau, Gilda Cobellis, Emilie Falconnet, Anne Vannier, Federico Santoni, Michel Guipponi, Christelle Borel, Stylianos E. Antonarakis; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

C09.6 Lessons learned from the NHLBI-Exome Sequencing Project (ESP)

Suzanne M. Leal, on behalf of NHLB-ESP; Baylor College of Medicine, Houston, TX, United States

C10.6 The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Françoise Houdayer, Marcela Gargiulo, Martine Frischmann, Audrey Labalme, Evelyne Decullier, Marie Pierre Cordier, Sophie Dupuis-Girod, Gaetan Lesca, Marianne Till, Damien Sanlaville, Patrick Edery, Massimiliano Rossi; Service de Génétique, Centre de référence des Anomalies du Développement, Hospices Civils de Lyon, Bron, France

C11.6 Western diet and Mlh1 mutation predispose colonic mucosa to early inactivation of the Wnt signaling antagonist Dickkopf-1

Marjaana Pussila, Laura Sarantaus, Denis Dermadi Bebek, Satu Valo, Nima Reyhani, Saara Ollila, Essi Päivärinta, Päivi Peltomäki, Marja Mutanen, Minna Nyström; University of Helsinki, Helsinki, Finland

C12.6 Identification of INPPL1 mutations in Opsismodysplasia

Celine Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G. Santos, Stavit A. Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Katta M. Girisha, Michael Wright, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire; Département de Génétique Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker Enfants Malades, PARIS, France

C13.6 Interferon-beta induces clearance of mutant ataxin-7 and improves locomotion in SCA7 knock-in mice

Annie Sittler, Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Christelle Tesson, Morwena Latouche, Darren P. Baker, Martine Barkats, Khalid El Hachimi, Merle Ruberg, Alexandre Janer, Giovanni Stevanin, Alexis Brice; CRICM_INSERM U975,CNRS 7225, UPMC, PARIS, France

C14.6 Ion transporter deficiency predisposes to pyogenic bacterial infection by partial oxidative burst defect in granulocytes

Marjorie Hubeau, Guilllaume Vogt, Francesca Conti, Audrey Virginia Grant, Laurent Abel, Philippe Gros, Mathieu Cellier, Capucine Picard, Jacinta Bustamante, Jean-Laurent Casanova; Paris Descartes University, Paris, France

Institutions refer to presenting author only