Concurrent Sessions C01 - C06 - Sunday, May 29 - 13.15 - 14.45 hrs


C01 Cancer Genetics

C02 Clinical Genetics and Dysmorphology

C03 Skeletal and Multisystem Disorders

C04 Unusual Mutation & DNA Repair Mechanisms

C05 Statistical Genetics & Large Scale Analysis

C06 Evolutionary and Population Genetics


C01.1 Landscape of somatic structural alterations in chronic lymphocytic leukemia (CLL) detected by whole-genome sequencing
L. Bassaganyas*, J. M. C. Tubio*, G. Escaramis, C. Tornador, S. Bea, X. S. Puente, D. Gonzalez-Knowles, R. Guigo, I. Gut, C. Lopez-Otin, E. Campo, X. Estivill

C02.1 Clinical and molecular findings in 91 patients with the clinical diagnosis of Cornelia de Lange Syndrome
I. Stefanova, A. Dalski, S. Vogt, D. Braunholz, F. J. Kaiser, G. Gillessen-Kaesbach

C03.1 Mutations in multiple components of the pre-replication complex cause microcephalic primordial dwarfism and Meier-Gorlin syndrome
L. S. Bicknell, E. M. H. F. Bongers, S. Walker, J. Schoots, A. Klingseisen, T. Stiff, A. Leitch, S. Brown, C. Kerzendorfer, C. Martin, P. Yeyati, M. E. Harley, S. Aftimos, J. Y. Al-Aama, N. Al Sanna, M. Bober, H. van Bokhoven, P. A. J. Brown, J. Dean, A. Y. Edrees, M. Feingold, A. Fryer, L. H. Hoefsloot, D. Johnson, N. Kau, N. V. A. M. Knoers, J. MacKenzie, J. M. Opitz, P. Sarda, A. Ross, I. K. Temple, A. Toutain, C. A. Wise, M. Wright, M. O'Driscoll, P. Jeggo, A. P. Jackson

C04.1 A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
R. J. L. F. Lemmers
, P. J. van der Vliet, L. N. Geng, L. Snider, R. R. Frants, R. Tawil, D. G. Miller, S. J. Tapscott, S. M. van der Maarel

C05.1 Novel Method to Estimate the Phenotypic Variation Explained by Genome Wide Association Studies Reveals Large Fraction of the Missing Heritability
Z. Kutalik
, J. Whittaker, D. Waterworth, J. S. Beckmann, S. Bergmann

C06.1 Identification of recent admixture in an Indian population of African ancestry: prospects for complex disease mapping
A. Basu
, A. Narang, P. Kumar, A. Mukhopadhyay, D. Dash, M. Mukherjee


C01.2 Exome sequencing in the identification of breast cancer predisposition genes
K. M. Snape, E. Ruark, S. Hanks, P. Tarpey, S. Seal, A. Renwick, G. Bowden, D. Hughes, C. Turnbull, J. Douglas, M. R. Stratton, N. Rahman

C02.2 Advances in phenotype-genotype correlations in Holoprosencephaly: about a European series of 645 probands.
S. Mercier, C. Dubourg, M. Belleguic, I. Gicquel, L. Rochard, L. Ratié, L. Pasquier, C. Bendavid, P. Loget, N. Garcelon, B. Campillo-Gimenez, S. Jaillard, C. Quélin, V. Dupé, V. David, S. Odent

C03.2 Exome sequencing identifies truncating mutations in NOTCH2 as a cause of Hajdu-Cheney syndrome
B. Isidor, P. Lindenbaum, O. Pichon, S. Bezieau, C. Dina, S. Jacquemont, D. Martin-Coignard, C. Thauvin-Robinet, M. Le Merrer, J. L. Mandel, A. David, L. Faivre, V. Cormier-Daire, R. Redon, C. Le Caignec

C04.2 High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays
H. Verdin
, B. D'haene, Y. Novikova, J. Nevado, P. Lapunzina, B. Menten, E. De Baere

C05.2 Accurate prediction of a minimal region around a genetic association signal that contains the causal variant
Z. Bochdanovits
, J. Simón-Sánchez, M. Jonker, W. Hoogendijk, A. van der Vaart, P. Heutink

C06.2 Identification of loci governing phenotypic traits in dog breeds highlights disease genes of relevance to human health
C. Hitte
, A. Ratnakumar, A. Vaysse, T. Derrien, E. Axelsson, G. Rosengren Pielberg, S. Sigurdsson, T. Fall, E. Seppälä, M. S. T. Hansen, C. Taylor Lawley, E. K. Karlsson, The LUPA consortium, D. Bannasch, C. Vilà, H. Lohi, F. Galibert, M. Fredholm, Ã…. Hedhammar, C. André, K. Lindblad-Toh, M. T. Webster


C01.3 The role of germline allele-specific expression of TGFBR1 in colorectal cancer predisposition
N. Segui, K. N. Stevens, E. Guino, L. S. Rozek, V. R. Moreno, G. Rennert, G. Capellà, S. B. Gruber, L. Valle

C02.3 Microcephaly with simplified gyration, West syndrome and infantile diabetes linked to inappropriate apoptosis of neural progenitors
C. J. Poulton, R. Schot, S. Kheradmand Kia, M. Y. de Wit, M. Jones, H. Venselaar, G. Vriend, E. de Graaf, A. M. Bertoli-Avella, G. M. S. Mancini

C03.3 Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive Osteogenesis Imperfecta
J. Becker, O. Semler, C. Gilissen, Y. Li, H. J. Bolz, C. Giunta, C. Bergmann, M. Rohrbach, F. Koerber, K. Zimmermann, P. de Vries, B. Wirth, E. Schoenau, B. Wollnik, J. A. Veltman, A. Hoischen, C. Netzer

C04.3 Non-coding, regulatory mutation implicates the HCFC1 gene in non-syndromic intellectual disability.
J. Gecz, L. Huang, S. Willis-Owen, M. Field, A. Hackett, M. Shaw, A. Gardner, C. Shoubridge, M. Corbett

C05.3 Anaylsis of 150 exomes using an automated analysis pipeline
S. H. Eck
, T. Wieland, E. Graf, A. Benet-Pagès, T. Meitinger, T. M. Strom

C06.3 Increased number of microRNA target sites in genes encoded in CNV regions. Εvidence for an evolutionary genomic interaction?
K. N. Felekkis
, K. Voskarides, H. Dweep, C. Sticht, N. Gretz, C. Deltas


C01.4 Chromosomal, epigenetic and microRna-mediated inactivation of LRP1B, a modulator of the extracellular environment of thyroid cancer cells
H. Prazeres, J. Torres, F. Rodrigues, M. Teixeira-Pinto, M. Sobrinho-Simões, P. Soares

C02.4 Ageing in Prader-Willi syndrome: Twelve persons over the age of 50 years
M. Sinnema, C. T. R. M. Schrander-Stumpel, M. A. Maaskant, L. M. G. Curfs

C03.4 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
C. Rooryck, A. Diaz-Font, D. Osborn, E. Chabchoub, V. Hernandez-Hernandez, H. Shamseldin, J. Kenny, A. Waters, D. Jenkins, A. Al Kaissi, G. Leal, B. Dallapiccola, F. Carnevale, M. Bitner-Glindzicz, M. Lees, R. Hennekam, P. Stanier, A. Burns, H. Peeters, F. Alkuraya, P. Beales

C04.4 Distinct effects of allelic NFI-X mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
V. Malan
, D. Rajan, S. Thomas, A. C. Shaw, H. Louis-dit-Picard, V. Layet, M. Till, A. van Haeringen, G. Mortier, S. Nampoothiri, S. Pušeljić, L. Legeai-Mallet, N. P. Carter, M. Vekemans, A. Munnich, R. C. Hennekam, L. Colleaux, V. Cormier-Daire

C05.4 Identity-By-Descent Filtering of Exome Sequence data for Disease-Gene Identification in Autosomal Recessive and X-Linked Disorders
P. M. Krawitz
, C. Rödelsperger, S. Bauer, J. Hecht, M. R. Schweiger, P. N. Robinson

C06.4 Loss and gain of function in human SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions
S. Seixas
, N. Ivanova, Z. Ferreira, J. Rocha, B. L. Victor


C01.5 Chromosomal instability in cancer: How does p53 guard the genome?
P. H. G. Duijf, J. M. Schvartzman, R. Sotillo, C. Coker, R. Benezra

C02.5 Craniofacial characteristics of Fragile X syndrome identified by dense surface and signature graph analyses
P. Hammond, M. J. Suttie, I. Heulens, F. Faravelli, F. Forzano, C. S. Perrotta, T. Mattina, R. F. Kooy

C03.5 Genetic deficiency of tartrate-resistant acid phosphatase (TRAP) associated with skeletal dysplasia, cerebral calcifications and autoimmunity: delineation of a new defect in a lysosomal enzyme
E. Lausch, A. Janecke, M. Bros, S. Trojandt, Y. Alanay, C. De Laet, C. A. Huebner, A. Kiss, P. Meinecke, G. Nishimura, R. Renella, L. Bonafé, S. Unger, B. Zabel, A. Superti-Furga

C04.5 Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination.
M. C. J. Jongmans, R. Kuiper, Y. Heijdra, T. Vulliamy, E. Kamping, E. Bongers, F. van Leeuwen, K. van Gassen, H. van Krieken, A. Geurts van Kessel, I. Dokal, M. Ligtenberg, N. Hoogerbrugge

C05.5 Genome-Wide Association Meta-Analysis of Total Brain Volume: Results from the ENIGMA Consortium
A. Arias-Vásquez
, The ENIGMA Consortium

C06.5 Remarkably little homozygosity in first generation mixed race individuals
J. F. Wilson
, C. O'Dushlaine, R. Fraser, R. McQuillan


C01.6 Germline gain-of-function mutations of ALK disrupt central nervous system development
C. Gordon, L. de Pontual, D. Kettaneh, M. Oufadem, N. Boddaert, M. Lees, J. Mollet, A. Munnich, L. Brugière, O. Delattre, M. Vekemans, S. Lyonnet, I. Janoueix-Lerosey, J. Amiel.

C02.6 Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
S. Jacquemont, A. Curie, V. des Portes, M. Torrioli, E. Berry-Kravis, R. J. Hagerman, F. J. Ramos, K. Cornish, Y. He, C. Paulding, G. Neri, F. Chen, N. Hadjikhani, D. Martinet, J. Meyer, J. S. Beckmann, K. Delange, A. Brun, G. Bussy, F. Gasparini, T. Hilse, A. Floesser, J. Branson, G. Bilbe, D. Johns, B. Gomez-Mancilla

C03.6 De novo nonsense mutations of ASXL1 cause Bohring-Opitz (Oberklaid-Danks) syndrome
A. Hoischen, B. W. M. van Bon, B. Rodríguez-Santiago, C. Gilissen, L. E. L. M. Vissers, P. de Vries, I. Janssen, R. Hastings, S. F. Smithson, R. Newbury-Ecob, S. Kjaergaard, J. Goodship, R. McGowan, D. Bartholdi, A. Rauch, M. Peippo, J. M. Cobben, D. Wieczorek, G. Gillessen-Kaesbach, J. A. Veltman, H. G. Brunner, B. B. B. A. de Vries

C04.6 Mutations in RAD21 as a cause of a new cohesinopathy
F. J. Kaiser
, D. Braunholz, J. Wilde, C. Gil-Rodriguez, M. Albrecht, D. Clark, A. Rampuria, W. Xu, I. D. Krantz, G. Gillessen-Kaesbach, J. A. Horsfield, M. A. Deardorff;

C05.6 The influence of genetic variations on regulatory modules in the liver.
A. Kreimer
, I. Pe'er

C06.6 Microsatellite choice and Y chromosome variation: attempting to select the best STRs to date human Y chromosome lineages
G. B. J. Busby
, C. Capelli