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

C13. Intellectual Disability: From Gene to Function

C14. Genomics of Common Disorders

C15. Next Generation Approaches to Heterogeneous Disorders

C16. Prenatal and Reproductive Genetics

C17. Statistical Genetics

C18. Ectodermal Diseases: From Gene to Function

C13.1 Mutations in PIGO, a member of the GPI anchor synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

P. M. Krawitz, Y. Murakami, J. Hecht, U. Krüger, S. Holder, G. Mortier, B. delle Chiaie, M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita, S. Mundlos, P. N. Robinson, D. Horn

C14.1 ASB10 variants are associated with open-angle glaucoma and silencing impairs ocular outflow

F. Pasutto, K. E. Keller, N. Weisschuh, H. Sticht, J. R. Samples, Y. Yang, M. Zenkel, U. Schlötzer-Schrehardt, C. Y. Mardin, P. Frezzotti, B. Edmunds, P. L. Kramer, E. Gramer, A. Reis, T. S. Scott, M. K. Wirtz

C15.1 Identification and characterization of genetic disorders with ID in diagnostics and diagnostic related research

M. H. Willemsen, H. Rensen, W. Wissink-Lindhout, A. de Brouwer, N. de Leeuw, R. Pfundt, H. G. Yntema, L. Vissers, J. de Ligt, J. A. Veltman, H. B. Brunner, H. van Schrojenstein Lantman-de Valk, H. van Bokhoven, B. C. J. Hamel, T. Kleefstra

C16.1 Non-invasive prenatal detection of fetal autosomal aneuploidies using massively parallel sequencing: a collaborative study in Europe

W. Hofmann, M. Entezami, K. Haug, C. Blank, M. Wüstemann, B. Schulze, G. Raabe-Meyer, S. Lange-Freitag, M. Schelling, E. Ostermayer, T. Burkhardt, R. Zimmermann, M. Beck, T. Schleicher, Y. Kumar, D. Schöner, S. Grömminger, M. Stumm

C17.1 The MHC association to celiac disease can be mostly explained by six amino acids in the HLA-DQ heterodimer

J. Gutierrez-Achury, G. Trynka, K. A. Hunt, J. Romanos, C. Wijmenga, D. van Heel, P. I. W. de Bakker

C18.1 Dominant missense mutations in potassium channel cause Cantú syndrome.

J. J. T. van Harssel, M. Harakalova, P. A. Terhal, S. van Lieshout, K. Duran, I. Renkens, D. Armor, L. Wilson, E. Kirk, C. L. S. Turner, D. Shears, S. Garcia-Minaur, M. M. Lees, A. Ross, H. Venselaar, G. Vriend, H. Takanari, M. Rook, M. van der Heyden, F. W. Asselbergs, J. M. Breur, M. E. Swinkels, I. J. Scurr, S. F. Smithson, N. V. Knoers, J. J. van der Smagt, I. J. Nijman, W. P. Kloosterman, M. M. van Haelst, G. van Haaften, E. Cuppen

C13.2 Identification of de novo variants in 51 sporadic patients with unspecific severe intellectual disability and 20 controls by exome sequencing

T. Wieland, D. Wieczorek, E. Graf, S. Endele, T. Schwarzmayr, B. Albrecht, D. Bartholdi, J. Beygo, N. Di Donato, A. Dufke, S. Gkalympoudis, M. Hempel, D. Horn, J. Hoyer, P. Joset, U. Moog, A. Riess, C. T. Thiel, A. Tzschach, A. Wiesener, E. Wohlleber, C. Zweier, C. Meisinger, H. Grallert, A. Schenck, H. Engels, G. Rappold, E. Schröck, P. Wieacker, O. Riess, T. Meitinger, A. Reis, T. M. Strom, A. Rauch

C14.2 Seven New Loci Associated with Age-Related Macular Degeneration

L. G. Fritsche, W. Chen, M. Schu, B. L. Yaspan, Y. Yu, The AMDGene Consortium

C15.2 High yield of massive parallel exome sequencing in 25 families with autosomal recessive intellectual disability

R. Abou Jamra, R. Buchert, A. B. Ekici, S. Uebe, S. H. Eck, H. Tawamie, E. Graf, F. F. Brockschmidt, J. Schumacher, M. M. Nöthen, T. Strom, A. Reis

C16.2 Further development and larger validation of non-invasive prenatal diagnosis for trisomy 21 using MeDIP real time qPCR

P. C. Patsalis, E. Tsaliki, C. Spyrou, G. Koumbaris, A. Karagrigoriou, K. Lamnisou, V. Velissariou, E. A. Papageorgiou

C17.2 Haplotype phasing using next-generation sequencing reads

O. Delaneau, J. Zagury, J. Marchini

C18.2 PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

J. Fischer, A. Grall, E. Guaguère, S. Planchais, S. Grond, E. Bourrat, I. Hausser, C. Hitte, M. le Gallo, C. Derbois, G. Kim, L. Lagoutte, F. Degorce-Rubiales, F. P. W. Radner, A. Thomas, S. Küry, E. Bensignor, J. Fontaine, D. Pin, R. Zimmermann, R. Zechner, M. Lathrop, F. Galibert, C. André

C13.3 Dosage imbalance of nonsense-mediated mRNA decay factors is associated with intellectual disability

L. Nguyen, H. Kim, J. Mokry, L. Shaffer, J. Gecz

C14.3 Meningococcal disease and age-related macular degeneration are genetically related

F. Martinon-Torres, C. C. Khor, V. J. Wright, S. Davila, K. S. Lim, A. Binder, W. B. Breunis, D. Inwald, S. Nadel, H. Betts, E. D. Carrol, R. de Groot, P. W. M. Hermans, J. A. Hazelzet, M. Emonts, C. C. Lim, T. W. Kuijpers, N. Martinon-Torres, L. Fachal, A. Vega, W. Zenz, M. Levin, M. L. Hibberd, A. Salas

C15.3 Brain malformation and clinical finding in autosomal recessive primary microcephaly: genotype - phenotype correlation

K. Kahrizi, N. Hafezi-Nejad, A. Tzschach, M. Garshasbi, S. Abedini, H. Hu, H. Ropers, H. Najmabadi

C16.3 Analysis of PCR-based monogenic preimplantation genetic diagnosis (PGD) by follow up of untransferred embryos - A multi-center study

J. Dreesen, A. Destouni, B. Degn, M. W. Christensen, F. A. G. Carvalho, C. Moutou, S. Sengupta, P. Renwick, S. Davies, E. Kanavakis, G. Harton, J. Traeger-Synodinos

C17.3 Bayesian multivariate phenotype modeling for genome-wide association studies.

V. Iotchkova, J. Marchini, T. Spector, C. Gieger, W. Ouwehand, N. Soranzo

C18.3 Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss

C. Fauth, M. Baumann, C. Giunta, B. Krabichler, F. Rüschendorf, N. Zoppi, M. Colombi, R. Bittner, S. Quijano-Roy, F. Muntoni, S. Cirak, G. Schreiber, Y. Zou, Y. Hu, N. Romero, R. Carlier, A. Amberger, A. Deutschmann, V. Straub, M. Rohrbach, D. Karall, K. Rostasy, B. Steinmann, C. Bönnemann, J. Zschocke

C13.4 A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

M. S. Hussain, S. M. Baig, S. Neumann, V. S. Peche, G. Nürnberg, M. Farooq, I. Ahmad, T. Alef, H. C. Hennies, M. Technau, J. Altmüller, P. Frommolt, H. Thiele, A. A. Noegel, P. Nürnberg

C14.4 First genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci including one subtype-specific locus

K. U. Ludwig, E. Mangold, S. Herms, S. Nowak, H. Reutter, J. Becker, R. Herberz, T. AlChawa, E. Nasser, A. C. Böhmer, M. Mattheisen, M. A. Alblas, S. Barth, N. Kluck, J. C. Murray, M. L. Marazita, I. Ruczinski, A. F. Scott, T. H. Beaty, F. Kramer, T. F. Wienker, R. P. Steegers-Theunissen, M. Rubini, P. A. Mossey, P. Hoffmann, C. Lange, S. Cichon, P. Propping, M. Knapp, M. M. Nöthen

C15.4 The utility of exome sequencing in Primary Immunodeficiency Diseases and Immunodysregulative Disorders

A. Stray-Pedersen, H. S. Sorte, O. K. Rodningen, R. Lyle, C. G. Gonzaga-Jauregui, S. K. Nicholas, L. Noroski, C. I. Hanson, H. C. Erichsen, T. G. Abrahamsen, B. Flatø, L. T. Osnes, K. R. Heimdal, D. E. Undlien, J. R. Lupski, W. T. Shearer

C16.4 Genetic basis of intrauterine fetal demise: the role of cardiac channelopathies.

A. Ghidoni, L. Crotti, D. J. Tester, R. Insolia, W. M. White, D. C. Bartos, M. L. Will, E. J. Velasco, J. J. Bair, A. Besana, A. Pfeufer, D. L. Van Dyke, J. Wick, B. Brost, B. Delisle, I. Cetin, F. Facchinetti, A. L. George Jr., P. J. Schwartz, M. J. Ackerman

C17.4 Case-control maximum weighted bipartite matching in genome wide association studies

A. Lacour, C. Herold, D. Drichel, T. Vaitsiakhovich, V. Schüller, T. Becker

C18.4 Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

A. Bloch-Zupan, X. Jamet, C. Etard, V. Laugel, J. Muller, V. Geoffroy, J. Strauss, V. Pelletier, V. Marion, O. Poch, U. Strahle, C. Stoetzel, H. Dollfus

C13.5 Dysregulation of Rho GTPases in the alphaPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

G. J. A. Ramakers, D. Wolfer, G. Rosenberger, K. Kuchenbecker, H. Kreienkamp, J. Prange-Kiel, G. Rune, K. Richter, K. Langnaese, S. Masneuf, M. R. Bösl, K. Fischer, H. J. Krugers, H. Lipp, E. van Galen, K. Kutsche

C14.5 Variants in RUNX3 contribute to susceptibility to psoriatic arthritis exhibiting further common ground with ankylosing spondylitis

U. D. Hüffmeier, S. Uebe, M. Apel, A. B. Ekici, J. Bowes, E. Giardina, E. Korendowych, K. Juneblad, R. McManus, P. Ho, I. N. Bruce, A. W. Ryan, F. Behrens, B. Böhm, H. Traupe, J. Lohmann, H. Wiechmann, C. Gieger, L. Klareskog, O. Fitzgerald, G. Alenius, N. McHugh, G. Novelli, H. Burkhardt, A. Barton, A. Reis

C15.5 NGS-panel targeting 150 cilia-related disease genes improves diagnostic testing for the broad spectrum of ciliopathies

V. Frank, T. Eisenberger, C. Eitel, C. Decker, H. J. Bolz, C. Bergmann

C16.5 Metabolic reprogramming of the epigenome by intrauterine exposure to gestational diabetes

N. El Hajj, G. Pliushch, E. Schneider, M. Dittrich, T. Müller, M. Korenkov, M. Aretz, U. Zechner, H. Lehnen, T. Haaf

C17.5 Variants in exons and in transcription factors affect gene expression in trans.

A. Kreimer, I. Pe'er

C18.5 Mutations in ROGDI cause epileptic encephalopathy and amelogenesis imperfecta (Kohlschütter-Tönz syndrome)

A. S. Schossig, N. I. Wolf, C. Fischer, M. Fischer, G. Stocker, S. Pabinger, A. Dander, B. Steiner, O. Tönz, D. Kotzot, E. Haberlandt, A. Amberger, B. Burwinkel, K. Wimmer, C. Fauth, C. Grond-Ginsbach, M. J. Koch, A. Deichmann, C. von Kalle, C. R. Bartram, A. Kohlschütter, Z. Trajanoski, J. Zschocke

C13.6 The functional spectrum of SRGAP3 in cognitive development

C. Bacon, V. Endris, E. Stoeckli, R. Waltereit, D. Bartsch, G. Rappold

C14.6 Genome-Wide Association Analysis Identifies the MTHFR-CLCN6-NPPA-NPPB Gene Cluster as an Importance Influence on BNP Levels - Implications for the Use of BNP levels in the Diagnosis and Therapeutic Monitoring of Heart Failure.

P. Surendran, C. Vangjeli, N. McCarthy, S. Thom, P. Sever, E. O'Brien, N. Poulter, J. Mayet, A. Hughes, D. Shields, A. Stanton

C15.6 Next generation sequencing of 105 genes associated with retinal dystrophy: A new era for diagnostic testing

G. C. Black, B. Mullaney, J. O'Sullivan, S. Bhaskar, G. Hall, J. Dickerson, S. Ramsden

C16.6 SPOC1 is involved in meiotic sex chromosome inactivation (MSCI)

C. Nelkenbrecher, A. Bördlein, S. Lukassen, S. Wolfshöfer, A. Fitzner, A. Ekici, H. Scherthan, A. Winterpacht

C17.6 eQTL mapping in 5,300 blood samples reveals downstream pathways in non-hematological traits

H. Westra, T. Esko, M. J. Peters, C. Schurmann, H. Yaghootkar, J. Kettunen, M. A. Christiansen, J. M. Karjalainen, R. S. N. Fehrmann, G. J. te Meerman, A. Hofman, F. Rivadeneira, E. Reinmaa, R. C. Jansen, J. Brody, S. A. Gharib, A. Suchy-Dicey, D. Enquobahrie, A. G. Uitterlinden, C. Wijmenga, B. M. Psaty, S. Ripatti, T. Frayling, A. Teumer, A. Metsepalu, J. B. J. van Meurs, L. Franke

C18.6 Mutations in GRIP1 cause Fraser syndrome

M. J. Vogel, P. van Zon, L. Brueton, M. Gijzen, M. C. van Tuil, D. Schanze, A. Kariminejad, S. Ghaderi-Sohi, E. Blair, M. Zenker, P. J. Scambler, H. Ploos van Amstel, M. M. van Haelst