Concurrent Sessions C13 - C18 - Tuesday, June 26 - 11.00 - 12.30 hrs

C15. NGS-based diagnostics

C16. ,Developmental syndromes

C17.Basic mechanisms in cytogenetics and molecular genetics

C18. Big GWAS

C19. ,Internal organs and endocrinology: Gene identification and function

C20. Neurodevelopmental and neuropsychiatric disorders

C15.1 FGFR related anomalies of foramen magnum : phenotypic-genotypic correlation

Federico Di Rocco, Corinne Collet, Martin Duplan-Biosse, Michel Zerah, Christian Sainte-Rose, Valerie Cormier-Daire, Arnold Munnich, Laurence Legeai-Mallet, Eric Arnaud; Craniofacial Unit Dep. Neurosurgery Necker Hospital Paris and INSERM U781, Paris, France

C16.1 Patterns and Rates of Exonic de novo Mutations in Sporadic Hirschsprung Disease Patients

Hongsheng Gui, Duco Schriemer, B J. Eggen, R M. Hofstra, W van IJcken, M van den Hout, Paola Griseri, Ivana Matera, I Ceccherini, Anna Pelet, Jeanne Amiel, Stanislas Lyonnet, Merce Garcia-Barcelo, P K-H Tam, Macarena Ruiz-Ferrer, Guillermo Antiñolo, Salud Borrego, Courtney Berrios, Aravinda Chakravarti, on behalf of International Consortium of Hirschspr, ung Disease; The University of Hong Kong, Hong Kong, Hong Kong

Note the change:

P20.03 Nine new cases of de novo constitutional complex chromosome rearrangements (CCR) involving a single chromosome detected by aCGH: is there a unifying mechanistic model?

Damien Sanlaville, B. Keren, S. Chantot, S. Jaillard, N. Marle, C. Metay, R. Molignier, J. Puechberty, G. Lefort, N. Chatron, V. Jauffret, C. Muti, A. Briand, L. Tosca, M. Cordier, A. Labalme, A. Mosca, P. Callier, A. Rafat, S. Taviaux, A. Schneider, S. Whalen, A. Afenjar, S. Brisset, C. Thauvin-Robinet, M. Portnoi, S. Odent, M. Till, L. Faivre, C. Schluth-Bolard; BRON Cedex, France

C18.1 Meta-analysis of 233,000 individuals identifies sex- and age-dependent genetic associations for obesity traits

Zoltán Kutalik, Thomas Winkler, Su Chu, Jacek Czajkowski, Tove Fall, Anne Justice, Tuomas O. Kilpeläinen, Yingchang Lu, Reedik Mägi, Mariaelisa Graff, Kari E. North, Iris M. Heid, Ruth JF Loos; Swiss Institute of Bioinformatics, Lausanne, Switzerland

C19.1 Mutations in PIK3R1 cause syndromic insulin resistance and lipodystrophy

Christel Thauvin-Robinet, Laurence Duplomb, Magali Avila, Judith St-Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu-Dramard, Pierre Bitoun, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thevenon, Patrick Callier, Jean-Michel Petit, Jacqueline Capeau, Corinne Vigouroux, Olivier Lascols, Frédéric Huet, Laurence Faivre, Jean-Baptiste Rivière; Laboratoire de Génétique Moléculaire, CHU, Dijon, France

C20.1 RNA foci in C9FTD/ALS patients sequester RNA binding proteins and subsequently alter downstream splicing and expression of their RNA targets.

Veronique V. Belzil, Jeannie Chew, Wing Cheung Lee, Leonard Petrucelli; Mayo Clinic, Jacksonville, FL, United States

C15.2 New genes in epilepsy and its co-morbidities: a linkage and whole exome sequencing approach.

Leanne M. Dibbens, Boukje de Vries, Simona Donatello, Katherine R. Smith, Melanie Bahlo, Bree L. Hodgson, Satyan Chintawar, Jose Serratosa, Frederick Andermann, Eva Andermann, Arn M. van den Maagdenberg, Massimo Pandolfo, Samuel F. Berkovic, Ingrid E. Scheffer, Sarah E. Heron; University of South Australia, School of Pharmacy and Medical Sciences, Adelaide, Australia

C16.2 A novel chromosomal breakage syndrome caused by a missense mutation in a gene from the SMC5/6 complex

Magdalena Harakalova, Saskia N. van der Crabben, Marije P. Hennus, Joris M. van Montfrans, Ivo Renkens, Karen Duran, Mark van Roosmalen, Stef van Lieshout, Peter M. van Hasselt, Suzan W. Terheggen-Lagro, Paulien Terhal, Tom Letteboer, Ron Hochstenbach, Koos Gaiser, Ewart Kuijk, Isaac J. Nijman, Nine Knoers, Wigard Kloosterman, Edwin Cuppen, Gijs van Haaften; Department of Medical Genetics, UMCU, Utrecht, Netherlands

C17.2 Enrichment of uniparental disomy events detected in the Deciphering Developmental Disorders rare disease study

Daniel A. King, Matthew E. Hurles; Wellcome Trust Sanger Institute, Hinxton, United Kingdom

C18.2 A causal association between vitamin D status and blood pressure: a Mendelian Randomization study in up to 150,846 individuals

Karani S. Vimaleswaran, D. J. Berry, A. Cavadino, P. van der Harst, G. Grimnes, A. Karina Zaineddin, C. Lu, A. Couto Alves, M. H. de Borst, A. Wong, Emmi Tikkanen, M. Mangino, K. A. Jablonski, I. M. Nolte, B. L. Langdahl, D. K. Houston, T. S. Ahluwalia, P. J. van der Most, D. Pasko, L. Zgaga, J. Heinrich, E. Thiering, F. G. Fowkes, C. Ohlsson, K. Michaëlsson, T. M. Frayling, T. Sørensen, S. B. Kritchevsky, L. Rejnmark, L. K. Billings, T. D. Spector, T. Lehtimäki, D. Kuh, S. E. Humphries, C. Cooper, J. G. Eriksson, W. März, C. Power, M. Kumari, H. Brenner, R. Jorde, H. Snieder, T. J. Wang, A. D. Hingorani, S. Pilz, J. C. Whittaker, M.R. Järvelin, E. Hyppönen on behalf of D-CarDia collaboration , MRC Centre of Epidemiology for Child Health, Centre for Paediatric Epidemiology and Biostatistics, UCL Institute of Child Health, London, United Kingdom

C19.2 Genome sequencing identifies mutations causing pancreatic agenesis in a novel PTF1A enhancer

Sian Ellard, Michael N. Weedon, Ines Cebola, Ann-Marie Patch, Elisa de Franco, Sarah E. Flanagan, Santiago Rodriguez-Segui, Jayne A. Houghton, Hana Lango Allen, Charles Shaw-Smith, Richard Caswell, Anna Murray, Philippe Ravassard, Ludovic Vallier, Jorge Ferrer, Andrew T. Hattersley; University of Exeter Medical School, Exeter, United Kingdom

C20.2 Rapid identification of autosomal recessive and X-chromosomal mutations in small sibling families

Janneke H. Schuurs-Hoeijmakers; Anneke T. Vulto-van Silfhout; Lisenka E. Vissers; Ilse I. van de Vondervoort; Bregje W. van Bon; Joep de Ligt; Christian Gilissen; Jayne Y. Hehir-Kwa; Kornelia Neveling; Marisol del Rosario; Gausiya Hira; Santina Reitano; Aurelio Vitello; Pinella Failla; Donatella Greco; Marco Fichera; Ornella Galesi; Tjitske Kleefstra; Marie T. Greally; Charlotte W. Ockeloen; Marjolein H. Willemsen; Ernie M. Bongers; Irene M. Janssen; Rolph Pfundt; Joris A. Veltman; Corrado Romano; Michèl A. Willemsen; Hans van Bokhoven; Han G. Brunner; Bert B. de Vries; Arjan P. de Brouwer. , Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands

C15.3 Targeted sequencing of GPI anchor synthesis pathway genes identifies mutations in PGAP2 as a new cause of hyperphosphatasia with mental retardation

Peter M. Krawitz, Yoshiko Murakami, Angelika Rieß, Marja Hietala, Ulrike Krüger, Zhu Na, Taroh Kinoshita, Stefan Mundlos, Peter N. Robinson, Jochen Hecht, Denise Horn; Medical Genetics and Human Genetics, Berlin, Germany

C16.3 SPRTN deficiency causes a novel segmental progeroid syndrome with chromosomal instability

Davor Lessel, Junko Oshima, Jaime Lopez-Mosqueda, Ivana Marinovic-Terzic, Melanie Philipp, Regina Fertig, Simon von Ameln, Marina Degoricija, Holger Thiele, Gudrun Nürnberg, Peter Nürnberg, George M. Martin, Cora M. Aalfs, Kristijan Ramadan, Janos Terzic, Ivan Dikic, Christian Kubisch; Institute of Human Genetics, University Ulm, Ulm, Germany

C17.3 Exonic splicing mutations in Mendelian disorders: more prevalent than currently estimated

Omar Soukarieh, Daniela Di Giacomo, Sophie Krieger, Thierry Frébourg, Mario Tosi, Pascaline Gaildrat, Alexandra Martins; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France

C18.3 Large-scale genome-wide association meta-analysis using imputation from the dense 1000 Genomes Project identifies novel susceptibility loci for glycemic and obesity traits: ENGAGE Consortium report

Momoko Horikoshi, Reedik Mägi, Ida Surakka, Antti-Pekka Sarin, Anubha Mahajan, Letizia Marullo, Teresa Ferreira, Tõnu Esko, Cecilia M. Lindgren, Andrew P. Morris, Mark I. McCarthy, Samuli Ripatti, Inga Prokopenko; University of Oxford, Oxford, United Kingdom

C19.3 Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Thomas Wieland, Felix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, Hang N. Nielsen, Urs D. Lichtenauer, David Penton, Vivien R. Schack, Laurence Amar, Evelyn Fischer, Anett Walther, Philipp Tauber, Thomas Schwarzmayr, Susanne Diener, Elisabeth Graf, Bruno Allolio, Benoit Samson-Couterie, Arndt Benecke, Marcus Quinkler, Francesco Fallo, Pierre-Francois Plouin, Franco Mantero, Thomas Meitinger, Paolo Mulatero, Xavier Jeunemaitre, Richard Warth, Bente Vilsen, Marie-Christina Zennaro, Tim M. Strom, Martin Reincke; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

C20.3 Associations between gene expression and phenotypes in 16p11.2 rearrangements

Katrin Männik, Eugenia Migliavacca, Aurélien Macé, Giuliana Gianuzzi, Maria N. Loviglio, Flore Zufferey, Noam D. Beckmann, Louise Harewood, Loyse Hippolyte, Anne M. Maillard, Vanessa Siffredi, Robert M. Witwicki, Gerard Didelot, Jacques S. Beckmann, Zoltan Kutalik, Sébastien Jacquemont, Alexandre Reymond; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia

C15.4 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

Periklis Makrythanasis, Mari Nelis, Federico A. Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané, Amira Masri, Mona S. Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos Aliferis, Mariana E. Bustamante, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou-Tzeli, Helen Frissyra, Emmanouil Kanavakis, Nasir Al-Allawi, Abdelaziz Sefiani, Sana Al-Hait, Siham C. Elalaoui, Nadine Jalkh, Lihadh Al-Gazali, Fatma Al-Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, David N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland

C16.4 Mutations in HDAC8 cause a clinically recognizable Cornelia de Lange Syndrome (CdLS)-like disorder

Frank J. Kaiser, Diana Braunholz, Morad Ansari, Sally A. Lynch, Nataliya DiDonato, Juliane Eckhold, María C Gil-Rodríguez, Juan Pié, Feliciano Ramos, Nicole Revencu, Ian D. Krantz, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Matthew A. Deardorff; Institut für Humangenetik, Lübeck, Germany

C17.4 New insights into human germline chromothripsis: underlying mechanisms and definition

Lusine Nazaryan, Mads Bak, Allan Lind-Thomsen, Christina Halgren, Eunice Stefanou, Claus Hansen, Karen Friis Henriksen, Merete Bugge, James Lespinasse, Gunnar Houge, Niels Tommerup; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicin, University of Copenhagen, Copenhagen, Denmark

C18.4 The 'Genome of The Netherlands' outperforms '1000 genomes' as a reference set for imputing rare variants in the European population

Patrick Deelen, Freerk van Dijk, Laurent Francioli, Jouke-Jan Hottenga, Elisa van Leeuwen, Mathijs Kattenberg, Lennart Karssen, Karol Estrada, Eskil Kreiner-Møller, Fernando Rivadeneira, Alexandros Kanterakis, Harm-Jan Westra, Androniki Menelaou, David van Enckevort, . Members of the GoNL consortium, Lude Franke, Paul de Bakker, Cisca Wijmenga, Morris Swertz; Genomics Coordination Center &, Department of Genetics, University Medical Center Groningen &, University of Groningen, Groningen, Netherlands

C19.4 Mutation-dependent recessive inheritance in NPHS2-associated steroid-resistant nephrotic syndrome. Beyond Mendel's laws

Kálmán Tory, Dóra K. Menyhárd, Fabien Nevo, Olivier Gribouval, Andrea Kerti, Pál Stráner, Christelle Arrondel, Tivadar Tulassay, Géraldine Mollet, András Perczel, Corinne Antignac; Institut Imagine, Paris, France

C20.4 GATAD2B loss-of-function mutations cause a recognizable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fenckova, Willy N. Nillesen, Ernie M. Bongers, Anna Castells Nobau, Lenke Asztalos, Erika Viragh, Bregje W. van Bon, Joris A. Veltman, Han G. Brunner, Bert B. de Vries, Joep de Ligt, Zoltan Asztalos, Helger G. Yntema, Hans van Bokhoven, David A. Koolen, Lisenka E. Vissers, Annette Schenck, Tjitske Kleefstra; Radboud University Medical Centre, Nijmegen, Netherlands

C15.5 Exome Sequencing in the Diagnostics of non-motile Ciliopathies (113 cases)

Miriam Schmidts, Estelle Chanudet, Vincent Plagnol, Francesco Lescai, Heinz Jungbluth, Goknur Haliloglu, Hulya Kayserili, Matthew E. Hurles, Pete J. Scambler, UK10K Consortium, Philip L. Beales, Hannah M. Mitchison; Molecular Medicine Unit, Birth Defect Research Center, Institute of Child Health, University College London (UCL), London, United Kingdom

C16.5 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Mocalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean-Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié-Bitach; INSERM U781 - Hôpital Necker Enfants Malades, Paris, France

C17.5 Whole-genome sequencing analysis of human induced pluripotent stem cells uncovers lineage-manifested CNVs

Alexander E. Urban, Alexej Abyzov, Jessica Mariani, Dean Palejev, Michael Haney, Ying Zhang, Livia Tomasini, Anna Szekely, Sherman M. Weissman, Mark Gerstein, Flora Vaccarino; Stanford University, Palo Alto, CA

C18.5 Genome-wide assocation study identifies common variation associated with congenital heart disease

Judith Goodship, Heather Cordell, Jamie Bentham, Ana Topf, Diana Zelenika, Simon Heath, Chrysovalanto Mamasoula, David Brook, Shoumo Bhattacharya, David Winlaw, Koen Devriendt, Seema Mital, Alex Postma, Mark Lathrop, Martin Farrall, Bernard Keavney; Institute of Genetic Medicine, Newcastle upon Tyne, United Kingdom

C19.5 A recurrent homozygous missense mutation in TTC21B encoding the ciliary protein IFT139 unexpectedly causes steroid-resistant nephrotic syndrome

Evelyne Huynh Cong, Albane Bizet, Stéphanie Woerner, Emilie Filhol, Olivier Gribouval, Sophie Thomas, Flora Silbermann, Christine Bole-Feysot, Patrick Nitschke, Guillaume Canaud, Jamil Hachicha, Marie-Claire Gubler, Géraldine Mollet, Sophie Saunier, Corinne Antignac; Université Paris Descartes, Sorbonne Paris Cité, Paris, France

C20.5 Disruption of Methyl CpG Binding Protein 5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying S. Zou, Wen-Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steven A. Skinner, Curtis Rogers, David B. Everman, Ellen Boyd, Cheryl Tapp, Sureni V. Mullegama, Debra Keelean-Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski; Mayo Clinic, Rochester, MN

C15.6 Detection of clinically relevant copy number variants with whole exome sequencing

Joep de Ligt, Philp M. Boone, Rolph Pfundt, Lisenka E. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, Netherlands

C16.6 Integrator Complex Subunit 8 mutations associated with abnormal brain development and spliceosomal defect

Renske Oegema, Rachel Schot, Daphne Heijsman, Leontine van Unen, Sima Kheradmand Kia, Jeannette Hoogeboom, Andreas Kremer, Frans W. Verheijen, Peter van der Spek, Robert Hofstra, Maarten Fornerod, Grazia M. Mancini; ErasmusMC, Rotterdam, Netherlands

C17.6 Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Youssef Hibaoui, Iwona Grad, Ausrey Letourneau, MOhamed R. Sailani, Sophie Dahoun, Federico A. Santoni, Stefania Gimelli, Michel L. Guipponi, Marie Francoise Pelte, Frederique Bena, Stylianos E. Antonarakis, Anis Feki; Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, CH-1211 Geneva, Switzerland

C18.6 Common genetic variants predispose to a rare disease with high risk of sudden cardiac death

Richard Redon, Julien Barc, Yuka Mizusawa, Carol A. Remme, Jean B. Gourraud, Floriane Simonet, Peter J. Schwartz, Lia Crotti, Pascale Guicheney, Antoine Leenhardt, Charles Antzelevitch, Eric Schulze-Bahr, Elijah R. Behr, Jacob Tfelt-Hansen, Stefan Kaab, Hiroshi Watanabe, Minoru Horie, Naomasa Makita, Wataru Shimizu, Philippe Froguel, Beverley Balkau, Olivier Lantieri, Manfred Gessler, Dan Roden, Vincent M. Christoffels, Hervé Le Marec, Arthur A. Wilde, Vincent Probst, Jean J. Schott, Christian Dina, Connie R. Bezzina; CHU Nantes, l'institut du thorax, Nantes, France

C19.6 Characterization of the large patient cohort of the International Inflammatory Bowel Disease Genetics Consortium (IIBDGC)

Isabelle Cleynen, on behalf of the IBD Genetics Consortium (IIBDGC); KU Leuven, Leuven, Belgium

C20.6 Analysis of copy number variations at 15 schizophrenia-associated loci in a large, independent cohort

Elliott Rees, James T. Walters, Lyudmila Georgieva, Anthony R. Isles, Kimberly D. Chambert, Alex Richards, Gerwyn Davies, Sophie E. Legge, Jennifer L. Moran, Steven A. McCarroll, Michael C. O' Donovan, Michael J. Owen, George Kirov; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom