Concurrent Sessions C13 - C17 - Monday, May 23 - 13.15 - 14.45 hrs

C13. Prenatal Genetics and carrier screening

C14.Cancer Genetics: From modeling to profiling

C15. Neurogenetic disorders

C16.Bioinformatics, statistical and population genetics

C17.Metabolic and mitochondrial disorders

C18. Eye Disorders

C13.1

Validation of non-invasive prenatal diagnosis (NIPD) of multiple single gene disorders for clinical implementation

Michael Parks*, S. Court, S. Cleary, S. Clokie, J. Hewitt, D. Williams, T. Cole, F. MacDonald, M. Griffiths, S. Allen;
Birmingham, United Kingdom

C14.1

Lynch Syndrome Mouse: A model for colon Carcinogenesis

Marjaana Pussila*, P. Törönen, E. Einarsdottir, S. Katayama, J. Linden, J. Kere, M. Nyström;
Helsinki, Finland

C15.1

A Complex Mutational Spectrum of Structural Variation Contributing to Autism

Michael E. Talkowski, R. Collins, C. Redin, M. Stone, J. Glessner, S. Sanders, H. Brand;
Boston, United States

C16.1

FINEMAP: Ultrafast high-resolution fine-mapping using summary data from genome-wide association studies

Christian Benner*, C. Spencer, A.S. Havulinna, V. Salomaa, S. Ripatti, M. Pirinen;
Helsinki, Finland

C17.1

Comprehensive genomic analyses of Japanese cases with mitochondrial respiratory chain complex deficiencies

M. Kohda, Y. Tokuzawa, Y. Kishita, Y. Moriyama, Y. Mizuno, T. Hirata, Y. Yatsuka, Y. Yamashita-Sugahara, Y. Nakachi, H. Kato, S. Tamaru, H. Nyuzuki, N.N. Borna, H. Harashima, T. Yamazaki, M. Mori, K. Murayama, A. Ohtake, Yasushi Okazaki;
Hidaka, Japan

C18.1

PTCH1 is a major contributor to ocular developmental anomalies

Patrick Calvas, E.E. Davis, A. Causse, V. David, A. Demaison, A.R. Niederriter, S. Lamarre, C. Vincent-Delorme, L. Pasquier, C. Coubes, D. Lacombe, M. Rossi, J. Dufier, H. Dollfus, J. Kaplan, N. Katsanis, H.C. Etchevers, S. Faguer, N. Chassaing;
Toulouse, France

C13.2

Non-invasive prenatal testing of single-gene disorders: fact or fiction?

Y. Rozenholc, L. Orhant, F. Leturcq, E. Girodon, C. Costa, D. Vidaud, M. Vidaud, D. Desaulle, T. Bienvenu, Juliette Nectoux;
Paris, France

C14.2

Frameshift mutations in microsatellite unstable colorectal cancers: from immune signature to personalized immunotherapy

P. Maby, H. Kora, M. Hamieh, D. Tougeron, G. Bindea, B. Mlecnik, H. Angell, T. Fredriksen, N. Elie, J. Leprince, J. Mauillon, F. Le Pessot, R. Sesboüé, T. Frebourg, J. Galon, Jean-Baptiste Latouche;
Rouen, France

C15.2

A potential role for the linker for activation of T-cells (LAT) in the neuroanatomical phenotype of the 220kb 16p11.2 BP2-BP3 CNVs

Maria Nicla Loviglio*, T. Arbogast, M. Leleu, G. Giannuzzi, K. Männik, 16p11.2 Consortium, J.S. Beckmann, S. Jacquemont, N. Katsanis, C. Golzio, A. Reymond;
Lausanne, Switzerland

C16.2

Phenotype similarity regression for identifying the genetic determinants of rare diseases

Ernest Turro, D. Greene, S. Richardson, NIHR BioResource;
Cambridge, United Kingdom

C17.2

Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies

Metodi D. Metodiev, K. Thompson, C.L. Alston, A. Morris, L. He, Z. Assouline, M. Rio, N. Bahi-Buisson, A. Pyle, H. Griffin, S. Siira, A. Filipovska, A. Munnich, C.F. Patrick, R. McFarland, A. Rötig, R.W. Taylor;
Paris, France

C18.2

Non-coding mutations in the promoter of OVOL2 cause autosomal dominant corneal endothelial dystrophies congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1)

Alice E. Davidson, P. Liskova, C.J. Evans, L. Dudakova, L. Nosková, N. Pontikos, C. Zarouchlioti, V. Plagnol, M. Filipec, S. Kmoch, S.J. Tuft, A.J. Hardcastle;
London, United Kingdom

C13.3

Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies

Nathalie Brison, K. Van Den Bogaert, J.M.E. Van den Oever, L. Dehaspe, K. Janssens, B. Blaumeiser, H. Peeters, H. Van Esch, G. Van Buggenhout, A. Vogels, T. de Ravel, E. Legius, K. Devriendt, J.R. Vermeesch;
Leuven, Belgium

C14.3

Studying the functionality of the homologous repair pathway in zebrafish embryos: heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Kathleen B.M. Claes, J. Vierstraete, A. Willaert, K. Vleminckx, P. Vermassen, P. Coucke, A. Vral;
Gent, Belgium

C15.3

Disruption of POGZ is associated with intellectual disability and autism spectrum disorders

H.A.F. Stessman, Marjolein H. Willemsen*, M. Fenckova, O. Penn, A. Hoischen, B. Xiong, T. Wang, K. Hoekzema, L. Vives, I. Vogel, H.G. Brunner, I. van der Burgt, C. Ockeloen, J. Schuurs-Hoeijmakers, J. Klein Wassink-Ruiter, C. Stumpel, J. Vles, C. Marcelis, H. van Bokhoven, V. Cantagrel, S. Lyonnet, L. Colleaux, R. Bernier, J. Gerdts, B.P. Coe, C. Romano, L. Grillo, A. Alberti, C. Scuderi, M. Nordenskjöld, M. Kvarnung, H. Guo, K. Xia, A. Piton, B. Gerard, D. Genevieve, B. Delobel, D. Lehalle, L. Perrin, F. Prieur, J. Thevenon, J. Gecz, M. Shaw, R. Pfundt, B. Keren, A. Jacquette, A. Schenck, E. Eichler, T. Kleefstra;
Nijmegen, Netherlands

C16.3

PRSlice: A new polygenic risk score approach that leverages pleiotropy to improve prediction of complex traits

Jack Euesden*, Y. Ruan, A. Socrates, J.R.I. Coleman, C.M. Lewis, P.F. O'Reilly;
London, United Kingdom

C17.3

Mitochondrial inorganic pyrophosphatase (PPA2) mutations underlie a spectrum of cardiomyopathy disorders

Kit Doudney, H. Kennedy, T.B. Haack, V. Hartill, L. Matakovi?, E. Baumgartner, H. Potter, R. Mackay, C. Alston, S. O’Sullivan, R. McFarland, G. Connolly, C. Gannon, R. King, S. Mead, I. Crozier, W. Chan, C. Florkowski, M. Sage, T. Höfken, B. Alhaddad, L. Kremer, R. Kopajtich, R. Feichtinger, W. Sperl, R. Rodenburg, J. Minet, A. Dobbie, T. Strom, T. Meitinger, P. George, C. Johnson, R. Taylor, H. Prokisch, J. Mayr;
Christchurch, New Zealand

C18.3

Gillespie Syndrome: a unique gene, two modes of inheritance

L. Fares-Taie, Sylvie Gerber*, K.J. Alzayady, L. Burglen, V. Marchesin, O. Roche, M. Rio, B. Funalot, R. Calmon, A. Durr, V. Gil da Silva Lopes, M. Ribeiro Bittar, B. Heron, P. Berquin, N. Bahi Buisson, C. Bole, C. Masson, A. Munnich, D. Bremond Gignac, M. Simons, N. Boddaert, S. Lyonnet, J. Kaplan, P. Calvas, D. Yule, J. Rozet;
Paris, France

C13.4

A prenatal targeted exome sequencing approach - Fetalis - designed specifically for fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

Constantinos Pangalos, B. Hagnefelt, K. Lilakos, C. Konialis;
Athens, Greece

C14.4

Cancer treatments contribute to the development of multiple primary tumours in Li-Fraumeni syndrome

Edwige Kasper, Y. Zerdoumi, E. Colasse, E. Angot, L. Nicol, S. Adriouch, Y. Lacoume, J. Sabourin, T. Frebourg, G. Bougeard, J. Flaman;
Rouen, France

C15.4

CLOZUK2: A population-based approach to the genomics of treatment-resistant schizophrenia

Antonio F. Pardiñas*, S. Legge, S. Ripke, the CRESTAR Consortium, K.D. Chambert, J.L. Moran, S.A. McCarroll, M.J. Owen, M.C. O'Donovan, J.T.R. Walters;
Cardiff, United Kingdom

C16.4

Emergence of a Homo sapiens-specific gene family and the evolution of disease risk at chromosome 16p11.2

Giuliana Giannuzzi, X. Nuttle, M.H. Duyzend, J.G. Schraiber, I. Narvaiza, F. Camponeschi, P. Sudmant, O. Penn, G. Chiatante, M. Malig, J. Huddleston, C. Benner, M.C.N. Marchetto, L. Denman, L. Harshman, C. Baker, A. Raja, K. Penewit, N. Janke, J.W. Tang, M. Ventura, F. Antonacci, L. Banci, S. Ciofi-Baffoni, J.M. Akey, C.T. Amemiya, F.H. Gage, A. Reymond, E.E. Eichler;
Lausanne, Switzerland

C17.4

Biallelic mutations of PPA2 (pyrophosphatase inorganic 2) in 2 families with recurrence of sudden unexpected infant death

Anne Guimier*, C. Gordon, F. Godard, M. Oufadem, C. Vasnier, P. Nitschke, C. Bole-Feysot, C. Masson, S. Dauger, C. Rambaud, B. Kugener, D. Bonnet, P. Bouvagnet, S. Di Filippo, V. Probst, R. Redon, P. Charron, A. Rötig, S. Lyonnet, L. De Pontual, J. di Rago, A. Delahodde, J. Amiel;
Paris, France

C18.4

Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

Frauke Coppieters, G. Ascari, K. Nikopoulos, M. Xu, K. Dannhausen, M.K. Tsilimbaris, T. Chrysanthi, B. Styliani, M. Karlstetter, M. Bauwens, M. De Bruyne, F. Meire, T. Langmann, R. Chen, C. Rivolta, C.P. Hamel, B.P. Leroy, E. De Baere;
Ghent, Belgium

C13.5

Exome sequencing of parental samples is a powerful strategy for the diagnosis of lethal recessive disorders

Karen L. Stals, J. Baptista, A. Bussell, R. Caswell, M. Johnson, G. Jones, H. Lango Allen, A. Parrish, C. Tysoe, M. Wakeling, S. Ellard;
Exeter, United Kingdom

C14.5

Single-cell transcriptional profiling identifies rare cell types with gene markers for classification and prognosis in Acute Myeloid Leukemia

Ambra Sartori*, E. Falconnet, P. Ribaux, S.E. Antonarakis, T. Matthes, C. Borel;
Geneva, Switzerland

C15.5

H-prune is required for microtubule assembly and mutated in microcephaly and neurodevelopmental delay

Mustafa Y. Ahmed*;
London, United Kingdom

C16.5

Using whole exome sequence based imputation panel to boost considerably the number of successfully imputed low-frequency and rare coding variants in the Finnish founder population

Ida Surakka*, A. Sarin, K. Karczewski, R. Durbin, D. MacArthur, V. Salomaa, A. Palotie, S. Ripatti, SISu project group;
Helsinki, Finland

C17.5

Mutations in TMEM126B cause a severe isolated complex I deficiency and variable clinical phenotype

Charlotte L. Alston*, A.G. Compton, L.E. Formosa, V. Strecker, M. Oláhová, T.B. Haack, J. Smet, K. Stouffs, P. Diakumis, E. Ciara, D. Cassiman, N. Romain, J.W. Yarham, L. He, B. De Paepe, A.V. Vanlander, S. Seneca, R.G. Feichtinger, R. P?oski, D. Rokicki, E. Pronicka, R.G. Haller, M. Bahlo, J. Mayr, R. Van Coster, H. Prokisch, I. Wittig, M.T. Ryan, D.R. Thorburn, R.W. Taylor;
Newcastle upon Tyne, United Kingdom

C18.5

Novel genes and phenotypic correlations in inherited retinal disease

Gavin Arno, A. Fiorentino, N. Pontikos, C. Chakarova, A.G. Robson, UKIRDC, G.E. Holder, M.E. Cheetham, V. Plagnol, M. Michaelides, A.J. Hardcastle, A.R. Webster;
London, United Kingdom

C13.6

Application of a NGS assay for the identification of individuals carrying recessive genetic mutations in reproductive medicine

Benjamín Rodríguez-Santiago, A. Abulí, M. Boada, M. García, S. Carbonell, B. Coroleu, A. Veiga, P.N. Barri, X. Estivill, L.A. Pérez-Jurado, L. Armengol;
Esplugues del Llobregat, Spain

C14.6

Tracing the origin of disseminated tumor cells in breast cancer using single-­cell sequencing

Parveen Kumar*, E. Moller, J. Demeulemeester, S. Nord, D. Wedge, M. Zamani Esteki, A. Børresen-Dale, K. White, B. Naume, V. Kristenen, P. Van Loo, T. Voet;
Leuven, Belgium

C15.6

Primary microcephaly: ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size

Rotem Kadir*, T. Harel, B. Markus, Y. Perez, A. Bakhrat, E. Chervinski, J. Zlotogora, S. Sivan, R.Y. Birnbaum, U. Abdu, S. Shalev, O.S. Birk;
Beer Sheva, Israel

C16.6

Genetic history of Latin America: Fine-scale population structure and phenotypic diversity

Juan Camilo Chacón-Duque*, K. Adhikari, V. Acuña-Alonzo, S. Canizales-Quinteros, C. Gallo, G. Poletti, F. Rothhammer, M. Bortolini, G. Bedoya, R. Gonzalez-José, D. Balding, CANDELA Consortium, G. Hellenthal, A. Ruiz-Linares;
London, United Kingdom

C17.6

A syndrome characterized by recurrent episodes of acute liver failure, peripheral neuropathy, cerebellar vermis atrophy, and ataxia is caused by disruptive mutations in SCYL1

Reginald E. Bittner, W.M. Schmidt, B. Mayerhofer, S. Rutledge, R. Schüle, S. Züchner, E. Boltshauser;
Vienna, Austria

C18.6

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

Muhammad Imran Khan*, C. Gilissen, C. Ayuso, D. Sharon, R.K. Koenekoop, C. Rivolta, E. deBaere, C.F. Inglehearn, M. van de Vorst, S. Kohl, C.P. Hamel, A. Hoischen, F.P.M. Cremers;
Nijmegen, Netherlands