Sunday, June 1, 2008
Concurrent Sessions C01 - C05

* ESHG Young Investigator Award candidates - Profiles available here

C01.1* Clinical and molecular characteristics of 1qter syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis
B. W. M. van Bon¹, D. A. Koolen¹, R. Borgatti², A. Magee³, S. Garcia-Minaur⁴, L. Rooms⁵, W. Reardon⁶, M. Zollino⁷, M. C. Bonaglia², M. De Gregori⁸, F. Novara⁸, R. Grasso², R. Ciccone⁸, H. A. van Duyvenvoorde⁹, R. Guerrini¹⁰, E. Fazzi¹¹, S. G. Kant⁹, C. L. Marcelis¹, R. Pfundt¹, N. de Leeuw¹, B. C. Hamel¹, H. G. Brunner¹, F. Kooy⁵, O. Zuffardi⁸, B. B. A. de Vries¹;
¹Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, ²IRCCS Eugenio Medea La Nostra Famiglia, Lecco, Italy, ³Northern Ireland Regional Genetics Service, Belfast, Ireland, ⁴South East of Scotland Clinical Genetic Service, Edinburgh, United Kingdom, ⁵University of Antwerp, Antwerp, Belgium, ⁶National Centre for Medical Genetics, Dublin, Ireland, ⁷Università Cattolica Sacro Cuore, Roma, Italy, ⁸Università di Pavia, Pavia, Italy, ⁹Leiden University Medical Centre, Leiden, The Netherlands, ¹⁰Azienda Ospedaliero-Universitaria A. Meyer, Firenze, Italy, ¹¹IRCCS C. Mondino Institute, Pavia, Italy.

C02.1* Fas-associated factor-1, a protein involved in apoptosis, causes cleft lip and palate
M. Ghassibe¹, L. Desmyter², F. Claes^3,4, O. Boute⁵, B. Bayet⁶, P. Pellerin⁷, L. Backx⁸, K. Hermans^3,4, P. Brouillard¹, N. Revencu¹, R. Vanwijck⁶, J. R. Vermeesch⁸, H. A. Poirel^1,9, P. Carmeliet^3,4, M. Vikkula¹;
¹Laboratory of Human Genetics, de Duve Institute, Brussels, Belgium, ²Laboratory of Human Genetics, de Duve Institute, université catholique de Louvain, Brussels, Belgium, ³Department for Transgene Technology and Gene Therapy, VIB, Leuven, Belgium, ⁴Center for Transgene Technology and Gene Therapy (CTG), K.U.Leuven, Leuven, Belgium, ⁵Centre de Génétique, CHU de Lille, Lille, France, ⁶Centre Labiopalatin, Service de Chirurgie Plastique, Cliniques universitaires Saint-Luc, Brussels, Belgium, ⁷Service de Chirurgie Plastique et Reconstructive, CHU de Lille, Lille, France, ⁸Center for Human Genetics, Leuven University Hospital, Leuven, Belgium, ⁹Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.

C03.1* Mitochondrial complex 3 deficiency associated with homozygous mutation in UQCRQ, encoding ubiquinol - cytochrome c reductase, complex III subunit VII, 9.5kDa
O. Barel¹, Z. Shorer², H. Flusser², R. Ofir¹, G. Narkis¹, G. Finer¹, H. Shalev², A. Nasasra¹, O. S. Birk^1,2;
¹National Institute for Biotechnology in the Negev, Beer-sheva, Israel, ²Soroka Medical Center, Beer-sheva, Israel.

C04.1* Copy number variations in patients with overgrowth syndromes detected by array-CGH
V. Malan^1,2, V. Cormier-Daire^1,2, S. Chevallier¹, C. Coubes³, D. Lacombe⁴, L. Pasquier⁵, J. Soulier⁶, N. Morichon-Delvallez^1,2, M. Vekemans^1,2, A. Munnich^1,2, L. Colleaux^1,2;
¹Departement de Génétique et INSERM U781, Paris, France, ²Université Paris Descartes, Paris, France, ³CHU Hôpital Saint-Eloi, Montpellier, France, ⁴Service de Génétique Médicale, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France, ⁵Unité de Génétique Clinique, Hôpital Sud, Rennes, France, ⁶Laboratoire d'Hématologie, Hôpital Saint-Louis, Paris, France.

C05.1 Functional interactions of conserved non-coding (CNC) sequences with other CNC using circular chromosome conformation capture (4C)
D. Robyr, G. Duriaux-Sail, S. E. Antonarakis;
University of Geneva Medical School, Geneva, Switzerland.

C01.2 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
G. Froyen¹, M. Corbett², J. Vandewalle¹, I. Jarvela³, O. Lawrence⁴, M. Bauters¹, H. Van Esch⁵, J. Chelly⁶, D. Sanlaville⁷, H. van Bokhoven⁸, H. Ropers⁹, F. Laumonnier¹⁰, C. E. Schwartz¹¹, F. Abidi¹¹, P. S. Tarpey¹², A. Whibley¹³, F. L. Raymond¹³, M. R. Stratton¹², J. Fryns⁵, M. Peippo¹⁴, M. Partington¹⁵, A. Hackett¹⁵, P. Marynen¹, G. Turner¹⁵, J. Gécz²;
¹VIB, University of Leuven, Leuven, Belgium, ²Women's and Children's Hospital, Adelaide, Australia, ³Helsinki University Central Hospital, Helsinki, Finland, ⁴John Hunter Hospital, Newcastle, Australia, ⁵University Hospital Leuven, Leuven, Belgium, ⁶Université Paris Descartes, Paris, France, ⁷Necker Enfants Malades Hospital, Paris, France, ⁸University Medical Centre, Nijmegen, The Netherlands, ⁹Max Planck Institute for Molecular Genetics, Berlin, Germany, ¹⁰Centre Hospitalier Universitaire Bretonneau, Tours, France, ¹¹JC Self Research Institute of Human Genetics, Greenwood, SC, United States, ¹²The Wellcome Trust Sanger Institute, Hinxton, United Kingdom, ¹³Cambridge Institute of Medical Research, Cambridge, United Kingdom, ¹⁴The Family Federation of Finland, Helsinki, Finland, ¹⁵The GOLD service Hunter Genetics University of Newcastle, Newcastle, Australia.

C02.2 Sporadic venous malformation is caused by somatic mutations in TIE2
M. Uebelhoer¹, V. Wouters¹, N. Limaye¹, L. M. Boon^1,2, J. B. Mulliken³, M. Vikkula¹;
¹de Duve Institute, Université catholique de Louvain, Brussels, Belgium, ²Center for Vascular Anomalies, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium, ³Vascular Anomalies Center, Children’s Hospital, Boston, MA, United States.

C03.2 Genetic defects underlying autosomal recessive nonsyndromic hearing impairment in Turkey; three novel and five known genes
E. Kalay^1,2, R. W. J. Collin³, S. Masmoudi⁴, Z. M. Ahmed⁵, R. Çaylan⁶, M. Tariq⁷, T. Peters³, B. van der Zwaag⁸, S. Riazuddin⁵, H. Venselaar⁹, K. Lee¹⁰, M. A. Mosrati⁴, M. Hmani-Aifa⁴, F. P. M. Cremers², B. Wollnik^11,12, H. G. Brunner^2,13, S. Riazuddin⁷, A. Karaguzel¹, S. M. Leal¹⁰, H. Ayadi⁴, T. B. Friedman⁵, H. Kremer^2,13;
¹Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, ²Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, ³Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, ⁴Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie, de Sfax, Tunisia, ⁵Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorder, Rockville, MD, United States, ⁶Department of Otorhinolaryngology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, ⁷National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan, ⁸Department of Pharmacology and Anatomy, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands, ⁹Center for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Nijmegen, The Netherlands, ¹⁰Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States, ¹¹Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, ¹²Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey, ¹³Center for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

C04.2 Design, implementation and results using diagnostic oligo array-cgh
J. A. Crolla^1,2, S. Huang², S. J. Beal², V. Maloney², J. C. K. Barber²;
¹University of Southampton, Salisbury, United Kingdom, ²National Genetics Reference Laboratory (Wessex), Salisbury, United Kingdom.

C05.2 A high-resolution structural variation map of a human genome by next-generation, high-throughput paired-end sequencing
F. M. De La Vega¹, H. E. Peckham², S. S. Ranade², S. F. McLaughlin², C. C. Lee², Y. Fu², Z. Zhang¹, F. C. L. Hyland¹, C. L. Clouser², A. A. Antipova², J. M. Manning², C. L. Hendrickson², L. Zhang², E. T. Dimalanta², T. D. Sokolsky², M. W. Laptewicz², B. E. Coleman², J. K. Ichikawa², J. B. Warner², B. Li¹, J. M. Kidd³, J. A. Malek⁴, G. L. Costa², E. E. Eichler³, K. J. McKernan²;
¹Applied Biosystems, Foster City, CA, United States, ²Applied Biosystems, Beverly, MA, United States, ³HHMI, University of Washington, Seattle, WA, United States, ⁴Weill Cornell Medical College in Qatar, Doha, Qatar.

C01.3 Clinical outcome and molecular investigation of Pitt-Hopkins syndrome: a series of 9 patients
L. de Pontual, Y. Mathieu, M. Rio, A. Munnich, S. Lyonnet, J. Amiel;
INSERM U-781, Department of Genetics, Necker Hospital, Paris, France, Paris, France.

C02.3* LTBP2 mutation in autosomal recessive microspherophakia with some marfanoid features
J. Desir¹, Y. Sznajer², J. Laes³, F. Roulez⁴, M. J. Abramowicz¹;
¹Medical Genetics Department, Hopital Erasme-ULB, Brussels, Belgium, ²Medical Genetics Department, HUDERF-ULB, Brussels, Belgium, ³DNAvision, Gosselies, Belgium, ⁴Ophthalmologic Department, HUDERF-ULB, Brussels, Belgium.

C03.3 Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
D. Geneviève¹, V. Proulle², B. Isidor¹, S. Bellais¹, V. Serre¹, F. Djouadi³, C. Picard⁴, C. Vignon-Savoye⁵, B. Bader-Meunier⁶, S. Blanche⁴, M. de Vernejoul⁷, L. Legeai-Mallet¹, A. Fischer⁸, M. Le Merrer¹, M. Dreyfus², P. Gaussem⁸, A. Munnich¹, V. Cormier-Daire¹;
¹Département de Génétique, Unité INSERM U781, Université Paris Descartes, AP-HP, Hôpital Necker-Enfants Malades, Paris, France, ²AP-HP, Laboratoire d’Hématologie, Université Paris-Sud, Hôpital Kremlin-Bicêtre, Kremlin Bicêtre, France, ³Centre National de la Recherche Scientifique UPR9078, Paris, France, ⁴AP-HP, Unité d’Immuno-Hématologie et de Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France, ⁵Service de Pédiatrie, Centre Hospitalier Intercommunal Le Raincy-Montfermeil, Montfermeil, France, ⁶AP-HP, Service d’Hématologie Pédiatrique, Hôpital Robert Debré, Paris, France, ⁷AP-HP, Département de Rhumatologie, Hôpital Lariboisière, Paris, France, ⁸AP-HP, Laboratoire d’Hématologie, Hôpital Européen Georges Pompidou, Paris, France.

C04.3 The challenge of interpreting microduplications detected by arrayCGH
C. M. A. van Ravenswaaij-Arts, B. Leegte, T. Dijkhuizen, R. Hordijk, I. Stolte-Dijkstra, M. de Jong, M. Kerstjens-Frederikse, K. Kok, B. Sikkema-Raddatz;
Department of Genetics, University Medical Center, Groningen, The Netherlands.

C05.3 Expression analysis using deep Solexa sequencing shows major advances in robustness, resolution and inter-lab portability over microarray platforms
J. T. den Dunnen^1,2, Y. Ariyurek², H. H. Thygesen¹, E. Vreugdenhil³, J. M. Boer¹, G. B. van Ommen¹, P. A. C. 't Hoen¹;
¹Human and Clinical Gentics, Leiden, The Netherlands, ²Leiden Genome Technology Center, Leiden, The Netherlands, ³Medical Pharmacology, Leiden / Amsterdam Center for Drug Research, Leiden, The Netherlands.

C01.4 Expanding the clinical phenotype of tetrasomy 18p
C. D. Sebold¹, E. Roeder^1,2, B. T. Soileau¹, A. Malik¹, D. Neigut², K. Hernandez³, M. Thomas³, B. Perry⁴, P. Fox⁵, M. Semrud-Clikeman⁶, B. Butcher⁶, S. Smith⁷, L. O'Donnell¹, K. Richards⁸, K. Reinker⁹, R. Tragus¹, D. E. Hale¹, J. D. Cody¹;
¹Chromosome 18 Clinical Research Center, San Antonio, TX, United States, ²Christus Santa Rosa Children's Hospital, San Antonio, TX, United States, ³University Health System, San Antonio, TX, United States, ⁴Ear Medical Group, San Antonio, TX, United States, ⁵UTHSCSA Research Imaging Center, San Antonio, TX, United States, ⁶University of Texas at Austin, Austin, TX, United States, ⁷University of Texas at Austin, San Antonio, TX, United States, ⁸Wilford Hall Medical Center, San Antonio, TX, United States, ⁹University of Texas Health Science Center at San Antonio, San Antonio, TX, United States.

C02.4* Novel ARVD5 gene causes autosomal dominant sudden cardiac death due to missense mutations in the TMEM43 gene
T. Young¹, N. D. Merner¹, K. Hodgkinson¹, A. F. Haywood¹, W. McKenna², S. Connors¹, V. French¹, L. Thierfelder³, P. Syrris², P. Parfrey¹;
¹Memorial University, St. John's, NL, Canada, ²The Heart Hospital, London, United Kingdom, ³Max-Delbruck Centrum fur Molekulare Medizin, Berlin, Germany.

C03.4 Congenital arthrogryposis: autosomal recessive lethal congenital contractural syndrome caused by mutations in PIP5K1C and in ERBB3
G. Narkis¹, E. Manor², D. Landau², M. Volokita¹, K. Elbadour², O. S. Birk^1,2;
¹National Institute for Biotechnology in the Negev, Beer-Sheva, Israel, ²Soroka Medical Center, Beer-sheva, Israel.

C04.4* Array-CGH analysis of MCA/MR patients: identification of 5 novel microdeletion syndromes
F. T. Papa, E. Katzaki, M. A. Mencarelli, R. Caselli, V. Uliana, M. Pollazzon, K. Sampieri, I. Longo, F. Ariani, I. Meloni, F. Mari, A. Renieri;
Medical Genetics, Siena, Italy.

C05.4 Studying gene dosage imbalance in embryonic stem cells
G. Cobellis^1,2, A. Romito¹, R. De Cegli¹, S. Iacobacci¹, A. Fedele¹, D. di Bernardo¹, A. Ballabio¹;
¹TIGEM, Napoli, Italy, ²Second University of Naples, Naples, Italy.

C01.5 Congenital nephrotic syndrome, microcephaly, trigonocephaly, polydactyly, brain and eye anomalies: a distinct autosomal recessive disorder
M. Zenker¹, O. Gross², E. Mildenberger³, B. Albrecht⁴, V. Matejas¹, D. Wieczorek⁴;
¹Institute of Human Genetics, Erlangen, Germany, ²Dept. Nephrology&Rheumatology, University Hospital Goettingen, Goettingen, Germany, ³Dept. of Pediatrics, University Hospital Benjamin Franklin, Berlin, Germany, ⁴Institute of Human Genetics, University Hospital Essen, Essen, Germany.

C02.5* Knock-out models in mice and men suggest a proatherogenic role for USF1
P. P. Laurila¹, K. Merikanto¹, J. Perttilä¹, J. Saharinen¹, M. Gentile¹, J. Naukkarinen¹, P. K. Laurila², A. Tuomainen³, C. Ehnholm¹, V. M. Olkkonen¹, M. Jauhiainen¹, L. Peltonen^1,4,5;
¹National Public Health Institute, Finland, Helsinki, Finland, ²Department of Pathology, Helsinki University Central Hospital, Helsinki, Finland, ³Institute of Dentistry, University of Helsinki, Helsinki, Finland, ⁴The Wellcome Trust Sanger Institute, Cambridge, United Kingdom, ⁵The Broad Institute of MIT and Harvard, Boston, MA, United States.

C03.5 Drastic reduction in the life span of cystatin C L68Q gene carriers due to life-style changes in the last two centuries
A. Palsdottir¹, A. Helgason^2,3, S. Palsson^4,5, H. T. Bjornsson⁶, B. T. Bragason¹, S. Gretarsdottir², U. Thorsteinsdottir^2,7, E. Olafsson^8,7, K. Stefansson^2,7;
¹Institute for Experimental Pathology, Keldur, University of Iceland, Reykjavík, Iceland, ²DeCODE Genetics, Reykjavík, Iceland, ³Department of Anthropology, University of Iceland, Reykjavik, Iceland, ⁴Institute of Biology, University of Iceland, Reykjavík, Iceland, ⁵DeCODE Genetics, Reykjavik, Iceland, ⁶Johns Hopkins University School of Medicine, Baltimore, MD, United States, ⁷Faculty of Medicine, University of Iceland, Reykjavik, Iceland, ⁸Department of Neurology, LSH University Hospital, Reykjavík, Iceland.

C04.5* Towards an improved genetic diagnosis of individuals with a congenital heart defects
B. Thienpont¹, L. Tranchevent², P. Van Loo^1,2, J. Breckpot¹, M. Gewillig³, Y. Moureau², K. Devriendt¹;
¹Center for Human Genetics, Leuven, Belgium, ²Department of Electrical Engineering, ESAT-SCD, Leuven, Belgium, ³Pediatric Cardiology Unit, Leuven, Belgium.

C05.5* A large human miRNA library screen reveals a potential role of miRNAs in the fine tuning of fibrinogen levels
A. Fort¹, C. Borel¹, R. J. Fish¹, S. E. Antonarakis¹, M. Neerman-Arbez^1,2;
¹University Medical Center, Geneva, Switzerland, ²Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland.

C01.6 An undescribed phenotype associated with cranio-fronto-facio-nasal malformations, total alopecia and genital abnormalities
N. A. Akarsu¹, H. Kayserili², I. Vargel³, Y. Alanay⁴, S. Candan², G. Tuncbilek⁵, O. Uyguner², S. Balci⁶;
¹Hacettepe University, Pediatrics, Gene Mapping Laboratory, Ankara, Turkey, ²Istanbul University Medical Genetics, Istanbul, Turkey, ³Kirikkale University, Plastic and Reconstructive Surgery, Kirikkale, Turkey, ⁴Hacettepe University, Pediatrics, Clinical Genetics, Ankara, Turkey, ⁵Hacettepe University, Plastic and Reconstructive Surgery, Ankara, Turkey, ⁶Hacettepe University, Pediatrics, Clinical Genetics (Emeritus Member), Ankara, Turkey.

C02.6 Disruptions of highly conserved, very distant regulatory elements on either side of SOX9 are associated with Pierre Robin sequence
J. Fantes¹, S. Benko², J. Ramsay¹, J. Amiel², S. Heaney¹, D. McBride¹, P. Perry¹, D. Kleinjan¹, S. Thomas², N. Jamshidi³, C. Gordon³, C. Golzio², V. Abadie⁴, C. Ayuso⁵, M. Holder-Espinasse⁶, N. Kilpatrick³, P. Thomas³, A. Pelet², M. Vazquez⁷, M. Vekemans², A. Munnich², P. Farlie³, H. Etchevers², S. Lyonnet², D. R. FitzPatrick¹;
¹MRC Human Genetics Unit, Edinburgh, United Kingdom, ²INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France, ³Oral Health Research Group,Musculoskeletal Disorders Theme, Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Australia, ⁴Université Paris 5 René Descartes, Paris, France, ⁵Fundación Jiménez Díaz, Genética, Madrid, Spain, ⁶CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France, ⁷Assistance Publique-Hôpitaux de Paris, Service de Chirurgie Maxillo-Faciale, Hôpital d’Enfants Armand Trousseau, Paris, France.

C03.6 Greater than 1% of Contemporary West Africans are Carriers of a Founder Mutation for Severe Recessive Type VIII OI, Which Was Presumably Brought to America with the Colonial Slave Trade and Also Occurs in African-Americans
W. A. Cabral¹, A. M. Barnes¹, C. N. Rotimi², L. Brody³, J. E. Bailey-Wilson⁴, F. D. Porter⁵, J. C. Marini¹;
¹Bone & Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD, United States, ²National Human Genome Center, Howard University, Washington, DC, United States, ³Molecular Pathogenesis Section, Genome Technology Branch, NHGRI, NIH, Bethesda, MD, United States, ⁴Statistical Genetics Section, Inherited Disease Research Branch, NHGRI, NIH, Baltimore, MD, United States, ⁵Heritable Disorders Branch, NICHD, NIH, Bethesda, MD, United States.

C04.6* Information management for constitutional cytogenetics: tools for ArrayCGH in a clinical diagnostic context
S. W. L. A. Van Vooren¹, B. Coessens¹, J. R. Vermeesch², Y. Moreau¹;
¹K.U.Leuven, ESAT/SCD (SISTA), Heverlee, Belgium, ²Center for Human Genetics, Leuven University Hospital, Leuven, Belgium.