Concurrent Sessions C07 - C12 - Sunday, June 1 - 13.15 - 14.45 hrs

C07. Implementation of NGS in diagnostics

C08. Cancer genetics

C09. Common neurological disease

C10. Bone and skeletal patterning

C11. Statistical genetics

C12. Sensory disorders

LysoPlex: an efficient strategy to study the role of lysosomal-autophagic-endocytic pathway

Giuseppina Di Fruscio*, A. Schulz, R. De Cegli, M. Mutarelli, M. Savarese, V. Singhmarwah, M. Filocamo, D. Di Bernardo, S. Banfi, T. Braulke, V. Nigro, A. Ballabio;
Naples, Italy

C08.1

Smc1a cohesin gene mutations in colorectal precancerous lesions

Francesco Cucco*, A. Servadio, V. Gatti, P. Bianchi, L. Mannini, A. Prodosmo, E. De Vitis, G. Basso, A. Friuli, L. Laghi, S. Soddu, G. Fontanini, A. Musio;
Pisa, Italy

C09.1

Functional analysis of SHANK2 mutations identified in schizophrenia patients

Slavil Peykov*, S. Berkel, T. Böckers, K. Weiss, G. Schratt, S. Cichon, M. Rietschel, M. Noethen, G. Rappold;
Heidelberg, Germany

C10.1

PLS3 mutations in X-linked osteoporosis and fractures: unraveling a new bone regulatory pathway

Dimitra Micha*, F.S. van Dijk, M.C. Zillikens, M. Riessland, C.L.M. Marcelis, C.E. de Die-Smulders, J. Milbradt, A.A. Franken, A.J. Harsevoort, K.D. Lichtenbelt, M.E. Rubio-Gozalbo, H.E. Pruijs, R. Zwertbroek, Y. Moutaouakil, J. Egthuijsen, M. Hammerschmidt, R. Bijman, C. Semeins, A.D. Bakker, V. Everts, J. Klein-Nulend, N. Campos-Obando, A. Hofman, G.J. te Meerman, A.J.M.H. Verkerk, A.J.M.H. Uitterlinden, A. Maugeri, E.A. Sistermans, Q. Waisfisz, H. Meijers-Heijboer, B. Wirth, M.E.H. Simon, G. Pals;
Amsterdam, Netherlands

C11.1

Polygenic risk for ADHD is associated with impaired educational achievement and lower IQ in the general population

Evangelia Stergiakouli*, J. Martin, M.L. Hamshere, A. Thapar, D.M. Evans, N.J. Timpson, G. Davey Smith;
Bristol, United Kingdom

C12.1

Next generation sequencing as a reliable and efficient technique to identify mutations in patients with retinal dystrophies

John Neidhardt, N. Glöckle, A. Tiwari, T. Besnard, J. Lemke, S. Kohl, S. Biskup, W. Berger, B. Wissinger;
Schlieren, Switzerland

C07.2

Comparing Clinical Exome Sequencing versus Whole Exome Sequencing for monogenic diseases and undiagnosed patients

Pascal Joset, M. Papik, K. Steindl, S. Papuc, M. Vincent, L. Gogoll, D. Niedrist, B. Oneda, A. Baumer, A. Rauch;
Schlieren-Zurich, Switzerland

C08.2

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo (co-first author), M.J. Blok (co-first author), P. Whiley, M. Santamariña, S. Gutiérrez-Enríquez, A. Romero, P. Garre, A. Becker, L.D. Smith, G. De Vecchi, R.D. Brandão, D. Tserpelis, M. Brown, A. Blanco, S. Bonache, M. Menéndez, C. Houdayer, C. Foglia, J.D. Fackenthal, D. Baralle, B. Wappenschmidt, K. ConFaB, E. Díaz-Rubio, T. Caldés, L. Walker, O. Díez, A. Vega, A.B. Spurdle, P. Radice, M. de la Hoya;
Milano, Italy

C09.2

Exome sequencing of familial parkinsonism in Scandinavia

Emil K. Gustavsson*, I. Guella, C. Szu-Tu, D.M. Evans, C. Thompson, H.E. Sherman, H. Han, C. Vilarino-Guell, M.K. Lin, F.T. Pishotta, M. Toft, K. Wirdefeldt, A.C. Belin, M.S. Petersen, J. Aasly, M.J. Farrer, GEOPD Consortium;
Vancouver, Canada

C10.2

Mutations in plastin 3 cause osteoporosis with fractures. Overexpression of PLS3 and other F-actin bundling proteins influence skeletal development in zebrafish and mice

J. Milbradt, M. Dimitra, M. Riessland, N. Hamann, F. van Dijk, M. Peters, N. Mendoza Ferreira, M.S. Hosseini Barkooie, E. Janzen, M.C. Zillikens, M. Hammerschmidt, A. Niehoff, G. Pals, Brunhilde Wirth;
Cologne, Germany

C11.2

Polygenic risk score analysis shows shared genetic aetiology between AN and five other psychiatric disorders

Laura M. Huckins*, K.S. Mitchell, L. Thornton, WTCCC3 Consortium, GCAN Consortium, D.A. Collier, P.F. Sullivan, C.M. Bulik, E. Zeggini;
Hinxton, United Kingdom

C12.2

New Hereditary hearing loss (HHL) genes/mutations identified by High throughput sequencing and genotyping in the Italian and Qatari populations.

Giorgia Girotto*, D. Vozzi, E. Rubinato, A. Morgan, K. Abdulhadi, D. Vuckovic, M. Di stazio, A. d’Eustacchio, M. La Bianca, R. Badii, P. Gasparini;
Trieste, Italy

One generic automated workflow for both Sanger and ion semiconductor sequencing in routine DNA diagnostics

Kornelia Neveling, A. Diekstra, E. Bosgoed, A. Rikken, B. van Lier, E.J. Kamsteeg, M. Tychon, R.C. Derks, R.A. van Soest, A.R. Mensenkamp, H. Scheffer, M.R. Nelen;
Nijmegen, Netherlands

C08.3

Germline mutations in MAP3K6 predispose to gastric cancer

Daniel Gaston*, S. Hansford, C. Oliveira, M. Nightingale, H. Pinheiro, C. Macgillivray, P. Kaurah, A.L. Rideout, P. Steele, G. Soares, W. Huang, S. Whitehouse, S. Blowers, M.A. LeBlanc, H. Jiang, W. Greer, M.E. Samuels, A. Orr, C.V. Fernandez, J. Majewski, M. Ludman, S. Dyack, L.S. Penney, C.R. McMaster, D. Huntsman, K. Bedard;
Halifax, Canada

C09.3

Genome-wide analysis of microRNA coding genes in bipolar disorder

Andreas J. Forstner, A. Hofmann, T.W. Mühleisen, M. Leber, T.G. Schulze, J. Strohmaier, F. Degenhardt, J. Treutlein, M. Mattheisen, R. Breuer, S. Meier, S. Herms, P. Hoffmann, A. Lacour, S.H. Witt, A. Reif, B. Müller-Myhsok, S. Lucae, W. Maier, M. Schwarz, A. Pfennig, M. Bauer, M. Hautzinger, S. Moebus, P.M. Czerski, J. Hauser, J. Lissowska, N. Szeszenia-Dabrowska, P. Brennan, J.D. McKay, A. Wright, P.B. Mitchell, J.M. Fullerton, P.R. Schofield, N.G. Martin, G. Babadjanova, M. Alda, P. Grof, G.A. Rouleau, G. Turecki, C. Laprise, F. Rivas, F. Mayoral, M. Kogevinas, M. Grigoroiu-Serbanescu, G. Schratt, T. Becker, M. Rietschel, S. Cichon, M.M. Nöthen;
Bonn, Germany

C10.3

XYLT1 mutations in Desbuquois dysplasia type 2

CELINE HUBER, C. BUI, Y. Alanay, B. Tuysuz, C. Bole-Feysot, J. Leroy, G. Mortier, P. Nitschke, V. Cormier-Daire;
PARIS, France

C11.3

Efficient estimation of pairwise genetic correlations between hundreds of quantitative traits from population samples of thousands of individuals

Matti Pirinen, C. Benner, T. Lehtimäki, J.G. Eriksson, O.T. Raitakari, M. Järvelin, V. Salomaa, S. Ripatti;
Helsinki, Finland

C12.3

Disclosure of false disease genes - an underestimated potential of targeted and genomewide NGS: The example of MYO1A and deafness type DFNA48

T. Eisenberger, N. Di Donato, S.M. Baig, C. Neuhaus, A. Beyer, E. Decker, C. Bergmann, Hanno J. Bolz;
Ingelheim, Germany

C07.4

Setting sequencing thresholds for the use of next generation sequencing as a diagnostic tool

Y. Sun, M.J.V. Hoffer, C.A.L. Ruivenkamp, J.T. den Dunnen, Gijs W.E. Santen;
Leiden, Netherlands

Germline mutations in SUFU cause Gorlin syndrome and redefine the risk associated with childhood medulloblastoma.

William G. Newman, M.J. Smith, C. Beetz, S. Williams, Z. Bholah, B. Anderson, S.B. Daly, J. Urquhart, J. O'Sullivan, A. Kelsey, S. Bhaskar, D.G. Evans;
Manchester, United Kingdom

C09.4

Imbalance between excitation and inhibition in Neurons derived from MECP2, CDKL5 and FOXG1 iPSCs

Ilaria Meloni, T. Patriarchi, S. Amabile, A. Bartolini, D. Yasui, E. Calcagno, C. Lo Rizzo, F. Ariani, F. Mari, M. Mencarelli, J.W. Hell, A. Renieri;
Siena, Italy

C10.4

Mutations in endothelin 1 cause auriculocondylar syndrome and isolated question mark ears

Chris T. Gordon, F. Petit, P. Kroisel, L. Jakobsen, R. Zechi-Ceide, M. Oufadem, C. Bole-Feysot, P. Nitschke, A. Munnich, S. Lyonnet, M. Holder-Espinasse, J. Amiel;
Paris, France

C11.4

The influence of genotype and phenotype data quality control on SNP based heritability estimates within and across studies.

Jouke- Jan Hottenga, I. Fedko, G. Willemsen, E.J.C.N. de Geus, B. Penninx, D.I. Boomsma;
Amsterdam, Netherlands

C12.4

AON intravitreal injections to manipulate splicing in retinal cells

Xavier Gerard*, I. Perrault, A. Munnich, J. Kaplan, J. Rozet;
Paris, France

C07.5

EuroGentest guidelines for diagnostic next generation sequencing

Gert Matthijs, M. Alders, P. Bauer, A. Corveleyn, S. Eck, I. Feenstra, V. Race, H. Scheffer, E. Sistermans, E. Souche, M. Sturm, M. Weiss, H. Yntema, and the Participants to the EuroGentest workshop on Diagnostic NGS Guidelines;
Leuven, Belgium

C08.5

Evaluation of anti-cancer chemotherapy genotoxicity using a new p53 functional assay in human lymphocytes

Jean-Michel M. Flaman, E. Kasper, Y. Zerdoumi, F. Soubigou, G. Bougeard, T. Frebourg;
Rouen, France

C09.5

Left/right asymmetry genes are associated with handedness and appear relevant for neurodevelopmental disorders

Silvia Paracchini, W. Brandler, A. Morris, D. Evans, S. Ring, J. Stein, A. Monaco, J. Talcott, S. Fisher, C. Webber;
St Andrews, United Kingdom

Defects in TAPT1, involved in Axial Skeletal Patterning, Cause a Complex Lethal Recessive Disorder of Skeletal Development

Sofie Symoens*, A. Barnes, F. Malfait, K. Vleminckx, W. Steyaert, D. Syx, E. Parthoens, M. Biervliet, G. Gillessen-Kaesbach, J. De Backer, H. Bächinger, A. De Paepe, J.C. Marini, P.J. Coucke;
Ghent, Belgium

C11.5

Co-regulated transcripts associated to cooperating eSNPs define bi-fan motifs in human gene networks

Anat Kreimer*, I. Pe'er;
New York, United States

C12.5

Mutations in the tricarboxylic acid cycle enzyme, Aconitase 2,cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodi D. Metodiev, S. Gerber, L. Hubert, D. Chretien, X. Gérard, P. Amati, N. Boddaert, A. Kaminska, I. Desguerre, J. Kaplan, A. Munnich, A. Rötig, J. Rozet, C. Besmond;
Paris, France

C07.6

Clinical exome sequence performance for reporting secondary genetic findings

Eric Londin, P. Clark, M. Sponziello, L. Kricka, P. Fortina, J.Y. Park;
Philadelphia, United States

C08.6

Functional analysis of mismatch repair gene variants of uncertain significance and their possible contribution to Lynch syndrome.

Mariann Kasela*, R. Tricarico, J. Kantelinen, G. Gorelli, M. Genuardi, M. Nyström;
Helsinki, Finland

C09.6

Exome sequencing to disclose potential new pathogenetic variants in Rett patients without mutations in the known Rett genes

M. Marchi, F. Cogliati, D. Gentilini, I. Cracco, D. Cittaro, M. Pintaudi, A. Vignoli, L. Giordano, E. Veneselli, B. Ben Zeev, L. Larizza, Silvia Russo;
Milano, Italy

C10.6

ZIC1 mutations cause coronal craniosynostosis and learning disability

Stephen R.F. Twigg, J.A.C. Goos, I. Westbury, S.J. McGowan, M. van Dooren, A.M.W. van den Ouweland, P.J. van der Spek, 500 Whole-Genome Sequences (WGS500) Consortium, S.A. Wall, I.M.J. Mathijssen, E. Pauws, A.O.M. Wilkie;
Oxford, United Kingdom

C11.6

Inferring the human embryonic selection via genomic data

Konstantin Popadin, P. Makrythanasis, S.E. Antonarakis;
Geneva, Switzerland

C12.6

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Yonatan Perez*, L. Gradstein, H. Flusser, B. Markus, I. Cohen, Y. Langer, M. Marcus, T. Lifshitz, R. Kadir, O.S. Birk;
Beer Sheva, Israel