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

C02. Basic Research in Cancer Genetics

C03. Skeletal Disorders: From Gene to Function

C04. Cytogenetics

C05. Dissecting Complex Traits

C06. Genome Evolution and Variation

C01.1 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

D. A. Koolen, J. M. Kramer, K. Neveling, W. M. Nillesen, H. L. Moore-Barton, F. V. Elmslie, A. Toutain, J. Amiel, V. Malan, A. Chun-Hui Tsai, S. W. Cheung, C. Gilissen, E. T. P. Verwiel, T. Feuth, E. M. H. F. Bongers, H. Scheffer, L. E. L. M. Vissers, A. P. M. de Brouwer, H. G. Brunner, J. A. Veltman, A. Schenck, H. G. Yntema, B. B. A. de Vries

C02.1 KIAA1797/FOCAD encodes a novel focal adhesion protein with tumor suppressor function in gliomas

A. Brockschmidt, D. Trost, H. Peterziel, K. Zimmermann, M. Ehrler, H. Grassmann, P. Pfenning, A. Waha, D. Wohlleber, F. F. Brockschmidt, M. Jugold, A. Hoischen, C. Kalla, A. Waha, G. Seifert, P. A. Knolle, E. Latz, V. H. Hans, W. Wick, A. Pfeifer, P. Angel, R. G. Weber

C03.1 Arm to Leg Transformation in Humans associated with CNVs at the PITX1 locus

M. Spielmann, E. Klopocki, F. Brancati, P. Krawitz, J. Hecht, D. Ibrahim, K. Dathe, P. Ferrari, S. Lohan, U. Mennen, S. Mundlos

C04.1 High frequency of indels at the breakpoint junctions of MECP2 duplication rearrangements strongly support replicative-based mechanisms

C. M. B. Carvalho, M. B. Ramocki, D. Pehlivan, S. Cheung, L. M. Franco, J. W. Belmont, H. Y. Zoghbi, P. J. Hastings, J. R. Lupski

C05.1 RNAi-based functional profiling of loci from blood lipid genome-wide association studies

H. Runz, P. Blattmann, C. Schuberth, R. Pepperkok

C06.1 The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

C. R. Catacchio, M. Ventura, S. Sajjadian, L. Vives, P. H. Sudmant, T. Marques-Bonet, T. A. Graves, R. K. Wilson, E. E. Eichler

C01.2 Mutations in the KIAA1267 gene cause the 17q21.31 deletion syndrome phenotype.

M. Zollino, D. Orteschi, M. Murdolo, S. Lattante, P. Chiurazzi, G. Marangi, G. Neri

C02.2 Exome sequencing of late recurrence T-cell acute lymphoblastic leukemia in children confirms second leukemia and exposes predisposition candidate genes

E. Waanders, V. H. J. Van der Velden, T. Szczepański, L. E. L. M. Vissers, J. de Ligt, C. Gilissen, A. H. A. van Dijk, S. V. Van Reijmersdal, P. M. Hoogerbrugge, A. Geurts van Kessel, J. J. M. Van Dongen, R. P. Kuiper

C03.2 Microduplications Upstream of MSX2 are Associated with a Phenocopy of Cleidocranial Dysplasia

C. E. Ott, H. Hein, S. Lohan, A. M. Hoogeboom, N. Foulds, J. Grünhagen, S. Stricker, P. Villavicencio-Lorini, E. Klopocki, S. Mundlos

C04.2 How to deal with genomic imbalances in the imprinted region 11p15.5: Insights in the complex regulation of two imprinting domains

T. Eggermann, M. Begemann, M. Gogiel, A. Dufke, I. Spier, I. Spier, S. Spengler

C05.2 Accumulation of common genetic variants influences lipid levels in patients with T2D and improves prediction of hypercholesterolemia

S. M. Willems, A. Hofman, B. A. Oostra, C. M. van Duijn, A. Isaacs;
Genetic Epidemiology Unit, Department of Epidemiology, Erasmus MC, Rotterdam, Netherlands.

C06.2 Genome-wide search for gender different genetic loci for human anthropometric traits: Methods and results from genome-wide meta-analyses across 270,000 Individuals

T. W. Winkler, J. C. Randall, Z. Kutalik, S. I. Berndt, R. J. F. Loos, C. M. Lindgren, K. E. North, I. M. Heid

C01.3 Loss of function mutations in TGFB2 cause Loeys-Dietz syndrome

D. Schepers, M. E. Lindsay, N. Ajit Bolar, J. Doyle, E. Gallo, J. Fert-Bober, M. J. E. Kempers, E. K. Fishman, Y. Chen, L. Myers, D. Bjeda, G. Oswald, B. Anderlid, M. H. Yang, E. M. H. F. Bongers, J. Timmermans, A. C. Braverman, N. Canham, G. R. Mortier, H. G. Brunner, P. H. Byers, J. Van Eyck, L. Van Laer, H. C. Dietz, B. L. Loeys

C02.3 Somatic GATA2 zinc finger 1 mutations are exclusively associated with bi-allelic CEBPA mutations in acute myeloid leukemia (AML) and disrupt the capacity of GATA2 to enhance CEBPA-mediated activation of transcription

P. A. Greif, A. Dufour, N. Konstandin, B. Ksienzyk, E. Zellmeier, B. Tizazu, J. Sturm, T. Benthaus, M. Yaghmaie, P. Dörge, K. Hopfner, A. Hauser, A. Graf, S. Krebs, H. Blum, P. M. Kakadia, S. Schneider, E. Hoster, F. Schneider, M. Stanulla, J. Braess, M. C. Sauerland, W. E. Berdel, T. Büchner, B. J. Woermann, W. Hiddemann, K. Spiekermann, S. K. Bohlander

C03.3 Mutations in distinct domains of BMP1 cause Osteogenesis Imperfecta with variable bone phenotypes

K. Keupp, A. Nair, O. Semler, Y. Li, H. Thiele, P. Frommolt, J. Becker, C. Netzer, N. Arkasu, E. Schoenau, P. Nürnberg, M. Hammerschmidt, T. Carney, B. Wollnik

C04.3 Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization

R. Kawamura, H. Tanabe, T. Wada, S. Saitoh, Y. Fukushima, K. Wakui

C05.3 Detailed metabolic and genetic characterization of known lipid loci

T. Tukiainen, J. Kettunen, A. J. Kangas, L. Lyytikäinen, P. Soininen, A. Sarin, E. Tikkanen, P. F. O'Reilly, M. J. Savolainen, K. Kaski, A. Pouta, A. Jula, T. Lehtimäki, M. Kähönen, J. Viikari, M. Taskinen, M. Jauhiainen, J. G. Eriksson, O. Raitakari, V. Salomaa, M. Järvelin, M. Perola, A. Palotie, M. Ala-Korpela, S. Ripatti

C06.3 Analysis of structural variation in the Genome of the Netherlands (GoNL) project

V. Guryev, W. Kloosterman, L. Francioli, J. Y. Hehir-Kwa, E. Lameijer, A. Abdellaoui, J. de Ligt, V. Koval, N. Amin, F. van Dijk, L. C. Karssen, H. Mei, K. Ye

C01.4 Identification of the cause of Blue Rubber Bleb Nevus Syndrome

J. Soblet, N. Limaye, M. Cordisco, A. Dompmartin, O. Enjolras, S. Holden, A. D. Irvine, C. Labrèze, A. Lanoel, P. N. Rieu, S. Syed, C. J. van der Vleuten, R. Watson, S. J. Fishman, J. B. Mulliken, L. M. Boon, M. Vikkula

C02.4 Integrated genomic and epigenomic profiling of TP53 and non-TP53 Li-Fraumeni syndrome (LFS) tumors reveals multiple and shared hits in the p53 network

R. Krahe, B. Zhang, X. Hu, J. W. Wong, C. D. Wilson, K. A. Baggerly, N. E. Navin, L. C. Strong, L. L. Bachinski

C03.4 Increased sensitivity to DNA damage in a recessive form of Weaver syndrome caused by functional loss of an E3 ubiquitin ligase

G. Yigit, F. Percin, Y. Li, N. Bögershausen, L. Basel-Vanagaite, H. Kayserili, Y. Alanay, K. E. Brown, E. Milz, R. Wirth, P. Prontera, A. Küchler, V. Cormier-Daire, D. Wieczorek, B. Wollnik

C04.4 Age-related somatic structural changes in the nuclear genome of human blood cells

L. A. Forsberg, C. Rasi, H. R. Razzaghian, G. Pakalapati, L. Waite, K. S. Thilbeault, A. Ronowicz, N. E. Wineinger, H. K. Tiwari, D. Boomsma, M. P. Westerman, J. R. Harris, R. Lyle, M. Essand, F. Eriksson, T. L. Assimes, C. Iribarren, E. Strachan, T. P. O'Hanlon, L. G. Rider, F. W. Miller, V. Giedraitis, L. Lannfelt, M. Ingelsson, A. Piotrowski, N. L. Pedersen, D. Absher, J. P. Dumanski

C05.4 Estimating the fraction of established metabolic trait loci with discernible pleiotropic effects

L. Marullo, B. K. Cornes, J. Dupuis, J. B. Meigs, A. Morris, I. Prokopenko

C06.4 Duplications at PAK7 are a significant risk factor for schizophrenia and bipolar disorder

D. W. Morris, P. Cormican, R. D. Pearson, B. P. Riley, C. C. Spencer, E. M. Kenny, B. S. Maher, B. Wormley, G. Donohoe, D. Tropea, B. P. Coe, E. E. Eichler, A. McQuillin, H. Gurling, D. Blackwood, F. A. O'Neill, S. GENE+ Consortium, I. nternational Schizophrenia Consortium, W. T. C. C. C, W. T. C. C. C2, K. S. Kendler, M. Gill, P. Donnelly, A. P. Corvin

C01.5 Serin diet relieves symptoms of Hereditary Sensory and Autonomous Neuropathy type 1A caused by a c.992 C>T, p.(Ser331Phe), mutation in SPTLC1

B. W. Rautenstrauss, E. Wilichowski, E. Holinski-Feder, T. Hornemann;
Friedrich-Baur-Institute, Munich, Germany, Medizinisch Genetisches Zentrum, Munich, Germany, Georg-August-University, Göttingen, Germany, University Zürich, Zürich, Switzerland.

C02. 5Leupaxin mediates cytoskeleton remodeling in prostate cancer cells

S. Dierks, S. von Hardenberg, T. Schmidt, P. Burfeind, S. Kaulfuß;
Department of Human Genetics, Göttingen, Germany.

C03.5 Mutations at a single codon in Mad Homology 2 domain of SMAD4 cause Myhre syndrome

C. Le Goff, C. Mahaut, A. Abhyankar, W. le Goff, V. Serre, A. Afenjar, A. Brooks, N. Brunetti-Pieri, P. Campeau, A. Destrée, M. di Rocco, R. Hennekam, D. Héron, S. Jacquemont, S. Mansour, S. Marlin, R. McGowan, H. Murphy, M. Simon, I. Stolte- Dijkstra, J. Tolmie, N. Van der Aa, T. van Essen, A. Verloes, J. Casanova, A. Munnich, V. Cormier-Daire

C04.5 Clinically relevant mosaic findings in a total of 8,374 patients and parents in constitutional genome diagnostics using genome wide high resolution SNP array analysis

N. de Leeuw, J. Y. Hehir-Kwa, B. H. W. Faas, T. K. Rinne, M. J. E. Kempers, S. A. de Munnik, N. F. A. Leijsten, T. C. Machielsen, S. L. J. van Gessel, M. Wunderink, M. J. G. Banning, R. van Beek, M. del Rosario, B. B. A. de Vries, D. F. C. M. Smeets, R. Pfundt;
Department of Human Genetics, Nijmegen, Netherlands.

C05.5 Dysfunctional NO signaling due to a double mutation in GUCY1A3 and CCT7 identified by whole exome sequencing increases risk for myocardial infarction

J. Erdmann, K. Stark, U. Esslinger, F. Kaiser, C. CARDIoGRAM, H. Schunkert, C. Hengstenberg;
Universität zu Lübeck, Lübeck, Germany, 3 Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg,, Regensburg, Germany, Universität zu Lübeck, Inst. für Humangenetik, Lübeck, Germany.

C06.5 Variation in transcription factor binding among humans

M. Kasowski, F. Grubert, C. Heffelfinger, M. Hariharan, A. Asabere, S. Waszak, L. Habegger, J. Rozowsky, M. Shi, A. Urban, M. Hong, K. Karczewski, W. Huber, S. Weissman, M. Gerstein, J. Korbel, M. Snyder;
Yale University, New Haven, CT, United States, Stanford University, Stanford, CA, United States, EMBL, Heidelberg, Germany.

C01.6 SMA patients show concordant responses to valproic acid from blood to neurons while nonresponsivness is facilitated by CD36

L. Garbes, L. Hessen, J. Schreml, I. Hoelker, T. Bauer, C. Mueller, J. Dimos, M. Peitz, O. Bruestle, R. Heller, B. Wirth

C02.6 Clinical Application of Next Generation Sequencing Technology for the Detection of Clinically Actionable Mutations

Y. Wen, E. Fang, Y. Li, G. Douglas, C. E. Carmack, M. M. Li

C03.6 Homozygossity mapping and whole exome sequencing identifies MAP4 mutations in short stature

C. T. Thiel, D. Zahnleiter, U. Trautmann, A. B. Ekici, A. Reis, H. Doerr, A. Rauch

C04.6 Modelling neurogenesis impairment in Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Y. Hibaoui, I. Grad, M. R. Sailani, A. Letourneau, S. Dahoun, S. Gimelli, M. F. Pelte, F. Béna, S. E. Antonarakis, A. Feki

C05.6 Gene expression in an extended pedigree

S. B. Montgomery, X. Li, K. Karczewski, K. Smith

C06.6 Poly(A) binding protein nuclear 1 (PABPN1) levels affect alternative polyadenylation

E. de Klerk, A. Venema, Y. S. Anvar, J. J. Goeman, J. T. den Dunnen, S. M. van der Maarel, V. Raz, P. A. C. 't Hoen