Concurrent Sessions C01 - C07 - Sunday, June 9 - 13.15 - 14.45 hrs

C01.1 De novo mutations in the Genome of the Netherlands

Laurent C. Francioli, Paz Polak, Wigard Kloosterman, Shamil Sunyaev, Paul I. de Bakker; Departments of Medical Genetics and Epidemiology, University Medical Center Utrecht, Utrecht, Netherlands

C02.1 From acrodysotosis to acroscyphodysplasia : phenotypic spectrum of PDE4D and PRKAR1A mutations through the study of 26 cases.

Caroline Michot, Carine Le Goff, Yasemin Alanay, Geneviève Baujat, Edward Blair, Odile Boute, Brigitte Gilbert-Dussardier, Alice Goldenberg, Bertrand Isidor, Hulya Kayserili, Esther Kinning, Martine Le Merrer, Marleen Simon, Beyhan Tuysuz, Alain Verloes, Arnold Munnich, Valerie Cormier-Daire; INSERM U781, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France

C03.1 Highly multiplexed targeted single-nucleotide polymorphism (SNP) amplification and sequencing as a method for identifying fetal chromosomal disorders from maternal cell-free DNA

Bernhard Zimmermann, M Banjevic, M Hill, P Lacroute, M Dodd, S Sigurjonsson, P Lau, D Prosen, N Chopra, A Ryan, M Hall, S McAdoo, Z Demko, Brynn Levy, M Rabinowitz; Research and Development, Natera Inc., San Carlos, CA

C04.1 Mutations in SMARCE1 cause a novel disorder of multiple spinal meningiomas

William G. Newman, Miriam J. Smith, James O'Sullivan, Sanjeev S. Bhaskar, Kristen D. Hadfield, Gemma Poke, John Caird, Saba Sharif, Diana Eccles, David Fitzpatrick, Daniel Rawluk, Daniel DuPlessis, D Gareth Evans; Genetic Medicine, University of Manchester, Manchester, United Kingdom

C05.1 Post GWAS analysis of a BCL11A intronic region to define its role in regulating HbF levels.

Francesca Anedda, Sonia Sanna, Isadora Asunis, Gianluca Usala, Danjou Fabrice, Cristian A. Caria, Luciana Perseu, Alessia Loi, Annalisa Cabriolu, Loredana Porcu, Maria G. Marini, Maria F. Marongiu, Carlo Sidore, Riccardo Berutti, Mauro Pala, Andrea Angius, Fabio Busonero, Andrea Maschio, Stefania Satta, Francarosa Demartis, Liliana Maccioni, Ramaiah Nagaraja, Goncalo Abecasis, David Schlessinger, Maria S. Ristaldi, Renzo Galanello, Paolo Moi, Francesco Cucca Cucca, Serena Sanna, Manuela Uda; IRGB-CNR, Monserrato, Italy

C06.1 The disease mechanisms of FSHD1 and FSHD2 converge at the level of somatic expression of DUX4

Silvere M. van der Maarel, Richard Lemmers, Bert Bakker, Rabi Tawil, Sabirna Sacconi, Dan Miller, Stephen Tapscott; Leiden University Medical Center, Leiden, Netherlands

C07.1 New diagnostic paradigms for mitochondriopathies

Laura S. Kremer, Tobias B. Haack, Caroline A. Biagosch, Robert Kopajtich, Birgit Haberberger, Thomas Wieland, Thomas Schwarzmayr, Anett Walther, Tim M. Strom, Thomas Klopstock, Massimo Zeviani, Robert Taylor, Agnès Rötig, Arnold Munnich, Jan Smeitink, Peter Freisinger, Thomas Meitinger, Holger Prokisch; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany

C01.2 Type 2 Diabetes strongly increases risk for the pre-cancerous state of clonal mosaicism

Amélie Bonnefond, Boris Skrobek, Stéphane Lobbens, Elodie Eury, Stéphane Cauchi, Olivier Lantieri, Beverley Balkau, Elio Riboli, Michel Marre, Guillaume Charpentier, Loïc Yengo, Philippe Froguel; CNRS, Lille, France

C02.2 Broadening the clinical spectrum to be ascribed to EFTUD2 haploinsufficiency

Jeanne Amiel, Florence Petit, Myriam Oufadem, Valérie Malan, Joris Andrieux, Géraldine Goudefroye, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute, Roseline Caumes, Charles Decaestecker, Bruno Delobel, Klaus Dieterich, Laurence Faivre, Dominique Gaillard, Alice Goldenberg, Marie Gonzales, Didier Lacombe, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju Mehta, Laurent Pasquier, Ingrid Simonic, Alain Verloes, Michel Vekemans, Arnold Munnich, Muriel Holder-Espinasse, Loïc de Pontual, Stanislas Lyonnet, Tania Attie-Bitach, Christopher Gordon; INSERM U781, AP-HP, Université Paris Descartes, Paris, France

C03.2 Diagnostic accuracy for the non-invasive prenatal detection of common autosomal aneuploidies

Sebastian Groemminger, Markus Stumm, Michael Entezami, Karsten Haug, Cornelia Blank, Max Wüstemann, Bernt Schulze, Gisela Raabe-Meyer, Maja Hempel, Marcus Schelling, Eva Ostermayer, Sabine Langer-Freitag, Tilo Burkardt, Roland Zimmermann, Tina Schleicher, Bernd Weil, Ulrike Schöck, Yadu Kumar, Wera Hofmann; LifeCodexx AG, Konstanz, Germany

C04.2 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Katie M. Snape, Elise Ruark, Peter Humburg, The Breast Ovarian Cancer Susceptibility Collaboration, The Wellcome Trust Case Control Consortium, Clare Turnbull, Jorge Reis-Filho, Alan Ashworth, Antonis Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman; Institute of Cancer Research, Sutton, United Kingdom

C05.2 Transcriptome and genome sequencing uncovers functional variation in human populations

T. Lappalainen, M. Sammeth, M. R. Friedlander, P. A. 't Hoen, J. Monlong, M. A. Rivas, M. Gonzàlez-Porta, N. Kurbatova, T. Griebel, P. G. Ferreira, M. Barann, T. Wieland, L. Greger, M. van Iterson, J. Almlof, P. Ribeca, I. Pulyakhina, D. Esser, T. Giger, A. Tikhonov, M. Sultan, G. Bertier, D. G. MacArthur, M. Lek, E. Lizano, H. P. Buermans, H. Kilpinen, I. Padioleau, T. Schwarzmayr, O. Karlberg, H. Ongen, S. B. Montgomery, M. I. McCarthy, T. Strom, The Geuvadis Consortium, H. Lehrach, S. Schreiber, R. Sudbrak, A. Carracedo, S. E. Antonarakis, R. Haesler, A.C. Syvanen, G.J.B. van Ommen, A. Brazma, T. Meitinger, P. Rosenstiel, R. Guigo, I. G. Gut, Xavier Estivill, E. T. Dermitzakis; Swiss Institute of Bioinformatics, Geneva, Switzerland

C06.2 Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

Bastian Ackermann, Sandra Kröber, Laura Torres-Benito, Anke Borgmann, Miriam Peters, Seyyed Mohsen Hosseini Barkooie, Ricio Tejero, Miriam Jakubik, Julia Schreml, Janine Milbradt, Thomas F. Wunderlich, Markus Riessland, Lucia Tabares, Brunhilde Wirth; Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, Cologne, Germany

C07.2 ER Mannosidase I Deficiency: An unexpected CDG-II with intellectual disability and dysmorphic features

Gert Matthijs, Daisy Rymen, Romain Peanne, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Jaak Jaeken, François Foulquier; Center for Human Genetics, Leuven, Belgium

C01.3 De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood

Naomichi Matsumoto, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Hirotomo Saitsu; Yokohama City University Graduate School of Medicine, Yokohama, Japan

C02.3 Delineation of the clinical spectrum of RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism type I syndrome: an international cohort

Patrick Edery, Eudeline Alix, Mickael B. Bober, Audrey Labalme, Renaud Touraine, Sheela Nampoothiri, Isabella Borg, Pierre-Simon Jouk, Siren Berland, Annick Toutain, Elisabeth Steichen, Jocelyne Attia, Frederique Dijoud, Alexandre Vasilijevic, Amandine Fournier, Coline Poizat, Charles Marcaillou, Carol A. Wise, Laurent Guibaud, Damien Sanlaville, Francis Rousseau, Françoise Clerget-Darpoux, Anne-Louise Leutenegger; Université Lyon 1, Lyon, France

C03.3 Clinical Performance Comparison of the Harmony(TM) Prenatal Test and First Trimester Combined Screening in a General Pregnancy Population

Kypros Nicolaides, Argyro Syngelaki, Ghalia Ashoor, Thomas Musci, Eric Wang, Ken Song; Ariosa Diagnostics, San Jose, CA

C04.3 Germline mutations of inhibin in early-onset ovarian cancer

Isabelle Tournier, Régine Marlin, Kelly Walton, Françoise Charbonnier, Sophie Coutant, Cailyn Spurrell, Myriam Vezain, Horace Roman, Julie Tinat, Jean-Christophe Sabourin, Dominique Vaur, Mary-Claire King, Craig Harrison, Thierry Frebourg; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France

C05.3 Genetic regulation of lincRNA and protein-coding genes expression variation - similarities and differences

Konstantin Popadin, Maria Gutierrez-Arcelus, Tuuli Lappalainen, Emmanouil Dermitzakis, Stylianos E. Antonarakis; Department of Genetic Medicine and Development, Geneva, Switzerland

C06.3 The neuronal endopeptidase ECEL1 is associated with autosomal recessive distal arthrogryposis

Klaus Dieterich, Susana Quijrano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma Romero, Damien Sternberg, Isabelle Marty, Brigitte Estournet, Pierre-Simon Jouk, Judith Melki, Joël Lunardi; Université de Grenoble, Grenoble, France

C07.3 Mutations in nuclear-encoded components of mitochondrial respiratory chain complex III and IV cause apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

Alessia Indrieri, Vanessa van Rahden, Valeria Tiranti, Ivan Conte, Manuela Morleo, Daniela Iaconis, Giancarlo Chesi, Alessia Romano, Rosarita Tate, Ilaria D'Amato, Isabelle Maystadt, Stephanie Demuth, Alex Zvulunov, Ileana Ferrero, Paola Goffrini, Paola Bovolenta, Kerstin Kutsche, Massimo Zeviani, Brunella Franco; Telethon Institute of Genetics and Medicine -TIGEM, Naples, Italy

C01.4 Mapping of two human genomes with a single molecule nanochannel array platform for genome-wide structural variation analysis and de novo sequence assembly

Pui Yan Kwok, Yvonne Yuk Lai, Angel Chi Mak, Ernest T. Lam, Justin Silbert, Tsz Piu Kwok, Jing Woei Li, Alden K. Leung, Jacob J. Wu, Aldrin K. Yim, Annie Poon, Catherine Chu, Chin Lin, Michael Requa, Alex Hastie, Thomas Anantharaman, Harper VanSteenhouse, Heng Dai, Fedor Trintchouk, Michael Saghbini, Michael Austin, Kirt Haden, Han Cao, Siu Ming Yiu, Kevin Y. Yip, Ting Fung Chan, Ming Xiao; University of California, San Francisco, San Francisco, CA, United States

C02.4 Baraitser-Winter syndrome due to ACTB/G1 mutations: delineation of the spectrum in 34 cases

Alain Verloes, Julien Masliah-Planchon, Nataliya Di Donato, Judith Allanson, Mickael Baraitser, Han Brunner, Nicolas Chassaing, Albert David, Koen Devriendt, Valérie Drouin-Garraud, Francesca Faravelli, Fabienne Juliano, Marjolein Kempers, Didier Lacombe, Angela Lin, Grazia Mancini, Charles Marques Lourenço, Gilles Morin, Marjan Nezarati, Malgorzata Nowaczyk, JC Ramer, Sara Osimani, Nicole Philip, ME Pierpont, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, N Templin, Vera Uliana, Bregje Van bon, Conny Van Ravenswaaij, Jean-Baptiste Rivière, Andrew Fry, Alexander Hoischen, William Bill Dobyns, Daniela Pilz; INSERM U676, Paris, France

C03.4 Comprehensive Chromosome Screening in PGD and PGS - Ethical Challenges

Kristien Hens, Wybo Dondorp, Guido de Wert; Maastricht University, Maastricht, Netherlands

C04.4 Parkinson's disease and melanoma: a common genetic pathway linked to PARKIN inactivation

Hui-Han Hu, Nicolas Dumaz, Suzanne Lesage, Laurence Michel, Vincent Descamps, Samia Mourah, Celeste Lebbé, Nicole Basset Seguin, Martine Bagot, Armand Bensussan, Lydia Deschamps, Marie Therese Leccia, Amel Tsalamlal, Rachakonda P Sivaramakrishna, Stephan Klebe, Rajive Kumar, Caroline Kannengiesser, Anne Couvelard, Bernard Grandchamp, Thomas Luc, Alexis Brice, Nadem Soufir; Université Paris 7, Paris, France

C05.4 Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

Andreas R. Gschwind, Helena Kilpinen, Sebastian M. Waszak, Sunil K. Raghav, Robert M. Witwicki, Andrea Orioli, Eugenia Migliavacca, Michaël Wiederkehr, Maria Gutierrez-Arcelus, Nikolaos Panousis, Alisa Yurovsky, Tuuli Lappalainen, Luciana Romano-Palumbo, Alexandra Planchon, Deborah Bielser, Julien Bryois, Ismael Padioleau, Gilles Udin, Sarah Turnheer, David Hacker, Leighton J. Core, John T. Lis, Nouria Hernandez, Bart Deplancke, Alexandre Reymond, Emmanouil T. Dermitzakis; Swiss Institute of Bioinformatics, Lausanne, Switzerland

C06.4 Constitutive activation of STIM1 causes tubular aggregate myopathy

Jocelyn Laporte, Frédéric Chevessier, André Maues De Paula, Shahram Attarian, Daniel Hantaï, Karima Ghorab, Nicolas Levy, Martin Krahn, Bruno Eymard, Marc Bartoli, Johann Böhm; IGBMC, Strasbourg, France

C07.4 Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy.

Nikhita Ajit Bolar, Arnaud V. Vanlander, Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet, Boel De Paepe, Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter, Gwenda Delanghe, Paul Govaert, Jules G. Leroy, Roland Lill, Rudy Van Coster, Lut Van Laer, Bart Loeys; Department of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium

C01.5 Exome sequencing in sporadic cases of schizophrenia identifies de novo protein-altering mutation in candidate genes

Michel Guipponi, Federico Santoni, Corinne Gehrig, Maud Rotharmel, Mararena Cuenca, Olivier Guilin, Dimitris Dikeos, George Papadimitriou, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Marion Leboyer, Dan Rujescu, Dominique Campion, Alain Malafosse, Stylianos E. Antonarakis; University Hospitals of Geneva, Geneva 4, Switzerland

C02.5 A comprehensive analysis of a cohort of Cornelia de Lange syndrome cases.

Morad Ansari, Roland Aldridge, Gemma V. Poke, Kathleen Williamson, Tessa Homfray, Raoul C. Hennekam, David R. FitzPatrick; Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom

C03.5 The challenge of preconceptional, preimplantation, and prenatal genetic diagnoses of mitochondrial DNA disorders

Sophie Monnot, Nadine Gigarel, Pauline Vachin, Elodie Herzog, Philippe Burlet, Nelly Frydman, Alexandra Benachi, Gihad Chalouhi, Yves Ville, Rene Frydman, Anne-Sophie Lebre, Agnes Rotig, David C. Samuels, Caroline Elie, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann; hopital necker, paris, France

C04.5 Loss of a Regulatory Element May Determine Endometrial Cancer Risk in EPCAM Deletion Carriers

Richarda M. de Voer, Eugène Verwiel, Margo Donna, Erwin van Wijk, Lilian Vreede, Rut Freixas, KaMan Wu, Iris Nagtegaal, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Marjolijn Ligtenberg, Roland Kuiper; Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands

C05.5 Deciphering vertebrate regulatory grammar using high-throughput in vivo functional assays

Robin P. Smith, Leila Taher, Samantha J. Riesenfeld, Rupali P. Patwardhan, Ivan Ovcharenko, Katherine S. Pollard, Jay Shendure, Nadav Ahituv; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, United States

C06.5 Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behavior

Oscar Hernández-Hernández, Celine Guiraud-Dogan, Geraldine Sicot, Aline Huguet, Sabrina Luilier, Esther Steidl, Stefanie Saenger, Caroline Chevarin, Annie Nicole, Bruno Buisson, Jean-Charles Bizot, Michel Hamon, Sandrine Humez, Guillaume Bassez, Friedrich Metzger, Luc Buée, Arnold Munnich, Nicolas Sergeant, Geneviève Gourdon, Mário Gomes-Pereira; Inserm U781, Hôpital Necker-Enfants Malades, Paris, France

C07.5 Exome sequencing Reveals Mutated NUBPL in Patients with Complex I Deficiency and a Distinct MRI Pattern

Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo G. Nijtmans, Anne Mitchell, Hugo A. Arroyo, Dietz Rating, Adeline Vanderver, Carola G. van Berkel, Truus E. Abbink, Peter Heutink, Marjo S. van der Knaap; VU University Medical Center, Amsterdam, Netherlands

C01.6 The genome structure of the Dutch population

Victor Guryev, Wigard Kloosterman, Laurent C. Francioli, Jayne Y. Hehir-Kwa, Tobias Marschall, Alexander Schoenhuth, Matthijs Moed, Eric-Wubbo Lameijer, Abdel Abdellaoui, Slavik Koval, Fereydoun Hormozdiari, Joep de Ligt, Najaf Amin, Freerk van Dijk, Lennart Karssen, Hailiang Mei, Evan E. Eichler, Kai Ye; Hubrecht Institute, University Medical Center, Utrecht, Netherlands

C02.6 Treacher Collins Syndrome: clinical and molecular study based on a series of 135 patients

Corinne Collet, M. Vincent, S. Marlin, D. Martin-Coignard, C. Coubes, Albert David, S. Lyonnet, C. Vilain, A. Dieux-Coeslier, M. Holder, B. Isidor, M.L. Jacquemont, S. Julia, D. Lacombe, V. Layet, S. Naudion, S. Odent, L. Pasquier, Sybille Pelras, N. Philip, G. Pierquin, F. Prieur, N. Aboussair, T. Attié-Bitach, G. Baujat, H. Dollfus, B. Doray, P. Edery, F. Giuliano, A. Goldenberg, C. Goizet, A. Guichet, L. Lambert, B. Le Heup, J. Martinovic, S. Mercier, C. Mignot, M.L. Moutard, M.J. Perez, H. Randrianaivo, K. Szakszon, A. Toutain, A. Verloes, J. Vigneron, E. Sanchez, J. Puechberty, J.L. Laplanche, P. Sarda, D. Geneviève; Service de Biologie Moléculaire, Hôpital Lariboisière, Paris, France

C03.6 Exome sequencing of 27 trios to identify genetic causes of fetal abnormalities

Keren J. Carss, Sarah Hillman, Eamonn Maher, Parthiban Vijayarangakannan, Derek Stemple, Mark Kilby, Matthew Hurles; Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

C04.6 Suppressor-tRNA Restores Functional E-Cadherin Expression in Cdh1 Mutant Cancer Cells: A Potential Approach to Treat Hereditary Diffuse Gastric Cancer

Renata Bordeira-Carriço, Daniel Ferreira, Denisa Mateus, Hugo Pinheiro, Ana Paula Pêgo, Raquel Seruca, Manuel Santos, Carla Oliveira; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal

C05.6 Novel genetic variants associated with alternative polyadenylation and expression of noncoding transcripts

Daria V. Zhernakova, Harm-Jan Westra, Eleonora de Klerk, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W. Penninx, Jouke J. Hottenga, Gonneke Willemsen, Eco J. de Geus, Dorret I. Boomsma, Jan H. Veldink, Leonard H. van den Berg, Cisca Wijmenga, Johan T. den Dunnen, Gert-Jan B. van Ommen, Peter A. ”˜t Hoen, Lude Franke; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands

Note the change:

P07.13 Pharmacokinetic studies of 2'-O-methyl phosphorothioate antisense oligonucleotides in mdx mice

Ingrid E.C. Verhaart*, C.L. Tanganyika-de Winter, J.C.T. van Deutekom, S.J. de Kimpe, J.A. Sipkens, J.E. Ridings, S.R. Hood, A. Aartsma-Rus; Leiden, Netherlands

C07.6 Pioglitazone prevents mitochondria dysfunction and halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

Aurora Pujol, Laia Morato, Jorge Galino, Montse Ruiz, Manuel Portero-Otin, Reinald Pamplona, Isidre Ferrer; IDIBELL, Barcelona, Spain