Concurrent Sessions C13 - C17 - Monday, June 2 - 13.15 - 14.45 hrs

RoomGold RoomSpace 3+4Brown 3Brown 1+2Space 1

C13. Innovation in genetic services

C14. Genetics of complex traits

C15. Novel genes in neurogenetic disorders

C16. Genes and development 2

C17. Metabolic and mitochondrial disorders

13.15

C13.1

Stratified cancer screening in Europe using genomic information: conclusions and recommendations from the COGS project

Thomas H.S. Dent, S. Chowdhury, A. Hall, N. Pashayan, P.D.P. Pharoah, H. Burton;
Cambridge, United Kingdom

C14.1

Insights into the genetic architecture of anthropometric traits using whole genome sequence data

Eleftheria Zeggini, UK10K consortium;
Hinxton, United Kingdom

C15.1

BCAP31 mutations cause a new X-linked syndrome with deafness, dystonia, central hypomyelination and disorganization of the Golgi apparatus

P. Cacciagli, J. Sutera-Sardo, A. Borges-Correia, J. Roux, I. Dorboz, J. Desvignes, C. Badens, M. Delepine, M. Lathrop, P. Cau, N. Lévy, N. Girard, P. Sarda, O. Boespflug-Tanguy, Laurent Villard;
Marseille, France

C16.1

A congenital disorder of glycosylation, with lymphopenia, neutropenia, and skeletal dysplasia, caused by mutations in the gene encoding phosphoglucomutase 3 (PGM3).

Asbjorg Stray-Pedersen, P.H. Backe, H.S. Sorte, L. Mørkrid, N.Y. Chokshi, H. Erichsen, T. Gambin, K.B.P. Elgstøen, M. Bjørås, M. Wlodarski, M. Krüger, S. Jhangiani, D.M. Muzny, A. Patel, K. Raymond, G.S. Sasa, R.A. Krance, C.A. Martinez, S.M. Abraham, C. Speckmann, S. Ehl, P. Hall, L. Forbes, E. Merckoll, J. Westvik, G. Nishimura, C.F. Rustad, T.G. Abrahamsen, A. Rønnestad, L.T. Osnes, T. Egeland, O.K. Rødningen, C.R. Beck, E. Boerwinkle, R.A. Gibbs, J.R. Lupski, J.S. Orange, E. Lausch, I. Hanson;
Houston, United States

C17.1

A dominant mutation in CHCHD10 causes neurodegenerative disorder with mitochondrial DNA instability

Veronique Paquis-Flucklinger, S. Bannwarth, S. Saadi, A. Chaussenot, E. Genin, K. Fragaki, L. Berg-Alonso, S. Lacas-Gervais, V. Serre, A. Verschueren, C. Rouzier, G. Augé, C. Cochaud, F. Lespinasse, J. Pouget;
Nice, France

13.30

C13.2

Expanding access to genetic counseling for hereditary breast and ovarian cancer with telephone delivery: A cluster randomized noninferiority trial

Anita Y. Kinney, K.M. Butler, M.D. Schwartz, J.S. Mandelblatt, K.M. Boucher, L.M. Pappas, A. Gammon, W. Kohlmann, S.L. Edwards, A.M. Stroup, K.G. Flores, R.A. Campo;
Albuquerque, United States

C14.2

Genome of the Netherlands imputation identifies seven new loci for quantitative ECG traits in meta-analysis of 30,000 samples.

Jessica van Setten*, N. Verweij, M.N. Niemeijer, S. Trompet, H. Mbarek, M. Eijgelsheim, J.J. Hottenga, J.A. Kors, E.M. van Leeuwen, P.W. Macfarlane, A. Hofman, B.H. Stricker, J.W. Jukema, C.M. van Duijn, D.I. Boomsma, E.J.C. de Geus, P. van der Harst, P.I.W. de Bakker, A. Isaacs;
Utrecht, Netherlands

C15.2

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Emma L. Baple*, R. Maroofian, B. Chioza, M. Izadi, H.E. Cross, S. Al-Turki, K. Barwick, A. Skrzypiec, R. Pawlak, K. Wagner, R. Coblentz, T. Zainy, M.A. Patton, S. Mansour, P. Rich, B. Qualmann, M.E. Hurles, M.M. Kessels, A.H. Crosby;
Exeter, United Kingdom

C16.2

Lenz-Majewski syndrome: disturbed phosphatidylserine metabolism causes intellectual disability and a sclerosing bone dysplasia

Sérgio B. Sousa*, D. Jenkins, E. Chanudet, G. Tasseva, E. Bliss, M. Ishida, J. Sá, J.M. Saraiva, A. Barnicoat, R. Scott, A. Calder, D. Wattanasirichaigoon, K. Chrzanowska, M. Simandlová, L. Van Maldergem, A. Hing, M. Silengo, G. Glenn Anderson, J. Docker, M. Ryten, J. Pereira, K. Mills, P. Clayton, P. Stanier, P. Beales, J.E. Vance, G.E. Moore;
Coimbra, Portugal

C17.2

Decoding Mitochondrial Disorders using Exome Sequencing

Laura Kremer*, T. Haack, R. Kopajtich, B. Haberberger, C. Biagosch, T. Wieland, E. Graf, T. Schwarzmayr, T. Strom, P. Freisinger, T. Klopstock, T. Meitinger, W. Sperl, J. Mayr, H. Prokisch;
Neuherberg, Germany

13.45

C13.3

New approaches to bridge the gap between genetics research and primary health care in Ireland

Sally Ann Lynch, R. O' Shea, R. O' Shea, J. Turner, A. Ward, M. Byrne, J. Casey;
Dublin 12, Ireland

C14.3

Genome-wide association analysis identifies a new gene involved in salt perception and liking

Antonietta Robino, N. Pirastu, C. Mansfield, D. Hwang, D.R. Reed, P. Gasparini;
Trieste, Italy

C15.3

REPS1 is a novel gene of Neurodegeneration with Brain Iron Accumulation

Anthony B. Drecourt*, N. Boddaert, I. Desguerre, D. Chretien, A. Munnich, A. Rötig;
Paris, France

C16.3

Homozygous FIBP truncating mutation in a new multiple congenital anomalies syndrome with overgrowth, macrocephaly, Iris coloboma, and learning disabilities

Christel Thauvin-Robinet, D. Picot, L. Duplomb-Jego, J. Thevenon, B. Terriat, D. Minot, J. St-Onge, Y. Duffourd, P. Vabres, J. Rivière, L. Faivre;
Dijon, France

C17.3

Lentivial vector based hematopoietic stem cell gene therapy mediates sustained expression of functional thymidine phosphorylase in mitochondrial neurogastrointestinal encephalopathy mouse model

Rana Yadak*, J. Torres-Torronteras, Y. Cámara, E. Bogaerts, G. de Ruijter, R. Mart?, N. van Til, G. Wagemaker, I. de Coo;
Rotterdam, Netherlands

14.00

C13.4

Unanticipated results in whole exome study: we've still a lot to learn

Cecile Skrzynia, J.M. O'Daniel, D. Marchuk, K. Lee, J.S. Berg, J.P. Evans;
Chapel Hill, United States

C14.4

ImmunoSeq: Discovery of novel rare variants implicated in autoimmune and inflammatory diseases by targeting regulatory regions in immune cells

Andréanne Morin*, T. Kwan, L. Letourneau, K. Tandre, M. Eloranta, V. Arseneault, M. Caron, A. Madore, G. Bourque, A. Montpetit, A. Syvanen, L. Ronnblom, M.G. Lathrop, C. Laprise, T. Pastinen;
Montréal, Canada

C15.4

Interferon type 1 response regulator USP18 is mutated in severe pseudo-TORCH syndrome

Marije Meuwissen*, R. Schot, G. Oudesluijs, S. Tinchert, L. van Unen, D. Heijsman, M. Lequin, M. Kros, R. Willemsen, R. Brouwer, W. van IJcken, R. de Coo, J. Dudink, A. Bertoli Avella, F. Verheijen, G. Mancini;
Rotterdam, Netherlands

C16.4

Hidden mutations in Cornelia de Lange Syndrome (CdLS) - Limitations of Sanger sequencing in molecular diagnostics

Frank J. Kaiser, D. Braunholz, J. Eckhold, J. Pozojevic, K. Wendt, E. Watrin, H. Rieder, G. Gillessen-Kaesbach;
Lübeck, Germany

C17.4

Deletion of a distant-acting enhancer near C16ORF91 underlies recessive congenital diarrhea

Danit Oz-Levi*, I. bar Joseph, T. Olender, D. Marek-Yagel, A. Alkelai, E.K. Ruzzo, P. Tatarsky, H. Reznik-Wolf, C. Hartman, R. Shamir, R. Kleta, D.B. Goldstein, E. Pras, L.A. Pennacchio, D. Lancet, Y. Anikster;
Rehovot, Israel

14.15

C13.5

The stepping stone approach towards the Genetics Clinic of the Future

D. Schuurbiers, G. Bertier, M. Radstake, P. Bauer, C. Bock, P. Borry, A. Bredenoord, A. Brookes, X. Estivill, R. Hennekam, L. Johnston, H. Kääriäinen, N. Knoers, F. Lescai, R. Maalman, F. Nielsen, G. van Ommen, C. Oosterwijk, J. Paschall, B. Prainsack, J. Saarela, R. Sudbrak, M. Swertz, H. Teare, Terry Vrijenhoek*;
Utrecht, Netherlands

C14.5

Exome array analysis in >30,000 Europeans establishes a functional role for G6PC2 and identifies novel coding variants influencing glycaemic traits

Anubha Mahajan, X. Sim, H.J. Ng, A.K. Manning, M.A. Rivas, H.M. Highland, A.E. Locke, N. Grarup, H.K. Im, A.P. Morris, J.B. Meigs, C.M. Lindgren, A.L. Gloyn, on behalf of T2D-GENES and GoT2D consortia;
Oxford, United Kingdom

C15.5

Loss of CTNND2 is associated with borderline intellectual dysfunction in humans and neuronal migration defects in zebrafish

W. Hofmeister, D. Nilsson, A. Topa, B. Anderlid, F. Vezzi, V. Wirta, M. Nordenskjöld, E. Syk Lundberg, Anna Lindstrand;
Stockholm, Sweden

C16.5

RNA Polymerase II activity is affected at the promoter regions in SMC1A-mutated Cornelia de Lange Syndrome cells

Linda Mannini, S. Bilodeau, C. Amato, V. Quarantotti, F. Cucco, I.D. Krantz, A. Musio;
Pisa, Italy

C17.5

Genetic testing leads clinical care in neonatal diabetes: a new paradigm

Elisa De Franco*, S.E. Flanagan, J.A.L. Houghton, H. Lango Allen, R. Caswell, D.J.G. Mackay, K.I. Temple, S. Ellard, A.T. Hattersley;
Exeter, United Kingdom

14.30

C13.6

Teaching Genomic Medicine to Physicians - this is our responsibility as medical geneticists !!!

Idit Maya, L. Basel-Vanagaite, E. Taub, A. Koifman, D.M. Behar, R. Tomashov-Matar, R. Sukenik-Halevi, D. Marom, A. Reches, M. Shaohat;
Petah Tikva, Israel

C14.6

Transethnic association study of IBD identifies novel risk loci and shows pervasive sharing of genetic risk factors across populations

Jimmy Z. Liu*, S. van Sommeren, R.K. Weersma, C.A. Anderson, The International IBD Genetics Consortium;
Hinxton, United Kingdom

C15.6

Novel (ovario)leukodystrophy related to AARS2 mutations

Sietske H. Kevelam*, C. Dallabona, D. Diodato, T.B. Haack, L. Wong, G.S. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T.M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. ?unap, R. Schiffmann, E. Salsano, M. Savoiardo, E. Hamilton, T.E.M. Abbink, N.I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M.S. van der Knaap;
Amsterdam, Netherlands

C16.6

In silico and functional characterization of KMT2D/MLL2 missense mutations as causative in Kabuki syndrome

Pasquelena De Nittis*, L. Micale, B. Augello, C. Fusco, A. Romano, B. Piccinni, M. Pellico, B. Mandriani, C. Rinaldi, A. Di Lauro, T. Verri, L. Zelante, G. Merla;
San Giovanni Rotondo, Italy

C17.6

Safety and efficacy of pravastatin and zoledronate association in Hutchinson-Gilford Progeria: two-years treatment results of a phase II, open label, single arm clinical trial (ClinicalTrials.gov #NCT00731016).

Annachiara De Sandre-Giovannoli, S. Sigaudy, P. Bourgeois, S. Miloudi, P. Roll, G. Gorincour, J. Gentet, F. Sabatier, L. Arnaud, N. André, P. Cau, R. Truillet, E. Jouve, J. Micallef, N. Lévy;
Marseille, France

City & Country refer to presenting authors
* indicates Young Investigator Award Candidates