C01 Clinical Genetics I
Chair: G. Matthijs

C01 A novel ciliary gene is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
M. Delous¹, L. Baala², R. Salomon¹, C. Laclef³, K. Tory¹, F. Silbermann¹, S. Audollent², T. Lacoste¹, C. Ozilou⁴, M. Gubler¹, J. Martinovic⁴, F. Encha-Razavi^2,4, M. Vekemans^5,4, C. Antignac^1,4, U. Rüther⁶, S. Schneider-Maunoury³, T. Attié-Bitach^2,4, S. Saunier¹;
¹Inserm U574, Hôpital Necker, Université René Descartes, Paris, France, ²Inserm U781, Hôpital Necker, Université René Descartes, Paris, France, ³CNRS UMR7622, Laboratoire de Biologie du Développement, Université Pierre et Marie Curie, Paris, France, ⁴Department of Genetics, Hôpital Necker, AP-HP, Paris, France, ⁵Inserm U871, Hôpital Necker, Université René Descartes, Paris, France, ⁶Institute for Animal Developmental and Molecular Biology, University of Düsseldorf,, Düsseldorf, Germany.

C02 Pleiotropic effects of CEP290 (NPHP6) mutations extends to Meckel-Gruber syndrome
T. Attié-Bitach^1,2, L. Baala³, S. Audollent^2,1, C. Ozilou^2,1, J. Martinovic², S. Sivanandamoorthy¹, E. Rattenberry⁴, S. Saunier⁵, R. Salomon⁵, C. Esculpavit¹, F. McDonald⁴, A. Munnich^1,2, S. Lyonnet^1,2, M. C. Gubler⁵, C. A. Johnson⁶, F. Encha-Razavi^1,2, M. Vekemans^1,2;
¹Unité INSERM U-781, Hôpital Necker-Enfants Malades, Université Paris V, Paris, France, ²Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France, ³Unité INSERM U-781, Université Paris V, Hôpital Necker-Enfants Malades, Paris, France, ⁴West Midlands Regional Genetics, Birmingham Women’s Hospital, Birmingham, United Kingdom, ⁵Unité INSERM U-574, Hôpital Necker-Enfants Malades, Université Paris V, Paris, France, ⁶Leeds Institute of Molecular Medicine, St. James’s University Hospital, Leeds, United Kingdom.

C03 A novel vertebrate specific chaperonine related protein (BBS12) is involved in Bardet-Biedl syndrome
H. J. Dollfus¹, C. Stoetzel¹, J. Muller², V. Laurier¹, E. E. Davies³, N. Katsanis⁴, O. Poch², J.L. Mandel²;
¹Laboratoire EA 3949, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, ²Institut de Génétique et de Biologie Moléculaire et Cellulaire, Inserm U596, CNRS, UMR7104, Illkirch, France, ³McKusick-Nathans Institute of Genetic Medicine and Departments of Ophthalmology and Molecular Biology and Genetics, John Hopkins University, Baltimore, MD, United States, ⁴McKusick-Nathans Institute of Genetic Medicine and Departments of Ophthalmology and Molecular Biology and Genetics, John Hopkins University,, Baltimore, MD, United States.

C04 Mutations in SCN9A cause a congenital inability to experience pain
C. G. Woods¹, J. Cox², A. Nicholas¹;
¹Cambridge Institute of Medical Genetics, Cambridge, United Kingdom, ²Cambridge Institute of Medical Genetics, Ccambridge, United Kingdom.

C05 Identification of mutations in Cytokine Receptor-Like Factor 1 (CRLF1) in Crisponi syndrome.
N. Dagoneau¹, P. Blanchet², P. Sarda², L. I. Al-Gazali³, M. Di Rocco⁴, C. Huber¹, F. Djouadi⁵, C. Le Goff¹, A. Munnich¹, V. Cormier-Daire¹;
¹Department of Medical Genetics and INSERM U781, Hopital Necker, Paris, France, ²Department of Genetics, Hopital Arnaud de Villeneuve, Montpellier, France, ³Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates, ⁴Second Unit of Pediatrics, Istituto G.Gaslini, Genoa, Italy, ⁵CNRS UPR9078, Faculté Necker, Paris, France.

C06 Crisponi Syndrome is Caused by Mutations in the CRLF1 Gene and Shows Allelism to Cold-Induced Sweating Syndrome Type 1
F. Rutsch¹, L. Crisponi², A. Meloni², M. R. Toliat^3,4, G. Nürnberg^3,5, G. Usala², M. Uda⁶, M. Masala², W. Höhne⁷, C. Becker⁵, M. Marongiu², F. Chiappe², R. Kleta⁸, A. Rauch⁹, B. Wollnik¹⁰, F. Strasser¹¹, T. Reese¹², C. Jakobs¹³, G. Kurlemann¹⁴, A. Cao², P. Nürnberg^3,4, G. Crisponi¹⁵;
¹Department of General Pediatrics, University Children's Hospital, Muenster, Germany, ²Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Cagliari, Italy, ³Cologne Center for Genomics, University of Cologne, Cologne, Germany, ⁴Institute for Genetics, University of Cologne, Cologne, Germany, ⁵Deutsches Ressourcenzentrum für Genomforschung GmbH, Berlin, Germany, ⁶Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrrato, Cagliari, Italy, ⁷Institute of Biochemistry, Charité Universitätsmedizin Berlin, Berlin, Germany, ⁸Centre for Nephrology, University College London, London, United Kingdom, ⁹Institute of Human Genetics, Friedrich Alexander University Erlangen-Nürnberg, Erlangen, Germany, ¹⁰Institute of Human Genetics, University of Cologne, Cologne, Germany, ¹¹Pediatric Practitioner, Nabburg, Germany, ¹²Klinik für Kinder- und Jugendmedizin, Mathias-Spital, Rheine, Germany, ¹³Department of Clinical Chemistry and Pediatrics, VU Medical Center, Amsterdam, The Netherlands, ¹⁴Department of Pediatric Neurology, University Children's Hospital, Muenster, Germany, ¹⁵Casa di cura Sant' Anna, Cagliari, Italy.

C02 Molecular and biochemical basis of disease I
Chair: P. DeLonlay

C07 The novel neuronal ceroid lipofuscinosis gene CLN7 encodes a putative lysosomal transporter protein
E. Siintola^1,2, M. Topcu³, N. Aula^1,2, H. Lohi^1,4, B. A. Minassian⁴, A. D. Paterson^4,5, M. Liu⁴, C. Wilson⁶, U. Lahtinen^1,2, A. K. Anttonen^1,2, A. E. Lehesjoki^1,2;
¹Folkhälsan Institute of Genetics, Helsinki, Finland, ²Neuroscience Center, University of Helsinki, Helsinki, Finland, ³Department of Pediatrics, Hacettepe University Faculty of Medicine, Section of Child Neurology, Ankara, Turkey, ⁴Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada, ⁵Department of Public Health Sciences, University of Toronto, Toronto, ON, Canada, ⁶Starship Children’s Hospital, Auckland, New Zealand.

C08 Identification of a new gene mutated in autosomal recessive centronuclear myopathies, and functional links with the dominant form
A. Nicot¹, A. Toussaint¹, V. Tosch¹, C. Kretz¹, C. Wallgren-Pettersson², E. Iwarsson³, H. Kingston⁴, J. Garnier¹, V. Biancalana⁵, J. Mandel¹, J. Laporte¹;
¹IGBMC, Illkirch, France, ²The Folkhälsan Institute of Genetics, Helsinki, Finland, ³Karolinska University Hospital, Stockholm, Sweden, ⁴Academic Unit of Medical Genetics and Regional Genetic Service, Manchester, United Kingdom, ⁵Faculté de Médecine et laboratoire de Génétique Médicale EA3949, Strasbourg, France.

C09 A protein sharing similarity with an ancestral prokaryotic kinase is mutant in a new form of recessive ataxia.
C. Lagier-Tourenne¹, M. Tazir², C. Quinzii³, L. Lopez³, S. Makri², L. Pacha², T. Benhassine², N. Drouot¹, M. Assoum¹, L. Reutenauer¹, D. Lynch⁴, C. Thibault¹, F. Plewniak¹, L. Bianchetti¹, M. Anheim¹, H. Puccio¹, O. Poch¹, J. Mandel¹, M. Hirano³, M. Koenig¹;
¹IGBMC; Inserm, U596; CNRS, UMR7104; Université louis Pasteur, Illkirch, CU de Strasbourg, France, ²Service de Neurologie, Centre Hospitalier Universitaire Mustapha, Alger, Algeria, ³Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, United States, ⁴Children's Hospital, Philadelphia, PA, United States.

C10 Prenyldiphosphate synthase (PDSS1) and OH-benzoate prenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
J. Mollet¹, I. Giurgea¹, D. Schlemmer¹, G. Dallner², D. Chretien¹, A. Delahodde³, D. Bacq⁴, P. de Lonlay¹, A. Munnich¹, A. Rötig¹;
¹INSERM U781, Paris, France, ²Department of Molecular Medicine and Surgery, Stockholm, Sweden, ³UMR 8621 CNRS, Orsay, France, ⁴Centre National de Génotypage, Evry, France.

C11 Mitochondrial DNA depletion is a major cause of multiple respiratory chain defects
A. Rötig¹, E. Sarzi¹, A. Bourdon¹, D. Chretien¹, M. Zahrate¹, J. Corcos¹, A. Slama², V. Cormier-Daire¹, P. De Lonlay¹, A. Munnich¹;
¹INSERM U781, PARIS, France, ²Hôpital du Kremlin Bicêtre, PARIS, France.

C12 Identification of a new gene of mitochondrial DNA depletion
A. Bourdon¹, L. Minai¹, V. Serre¹, J. Jaïs², E. Sarzi¹, S. Aubert¹, D. Chrétien¹, P. de Lonlay¹, V. Paquis³, H. Arakawa⁴, Y. Nakamura⁴, A. Munnich¹, A. Rötig¹;
¹INSERM U781, PARIS, France, ²Service de biostatistiques Université Paris-Descartes, PARIS, France, ³Département de génétique médicale, NICE, France, ⁴Human Genome Center, TOKYO, Japan.

C03 Complex disease and population genetics
Chair: P. Heutink

C13 Gender-specific association of a novel polymorphism in the TNFSF4 gene with allele-specific promoter activity and risk of myocardial infarction.
M. Ria, J. Lagercrantz, A. Samnegård, S. Boquist, A. Hamsten, P. Eriksson;
Atherosclerosis Research Unit, King Gustaf V Research Institute, Department of Medicine, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.

C14 Genome-wide copy number variation in schizophrenia
T. Lencz^1,2,3, C. Lambert⁴, T. Vance Morgan⁵, J. M. Kane^1,2,3, R. Kucherlapati^5,6, A. K. Malhotra^1,2,3;
¹The Zucker Hillside Hospital, Glen Oaks, NY, United States, ²Albert Einstein College of Medicine, Bronx, NY, United States, ³The Feinstein Institute for Medical Research, Manhasset, NY, United States, ⁴Golden Helix, Inc., Bozeman, MT, United States, ⁵Harvard Partners Center for Genetics and Genomics, Cambridge, MA, United States, ⁶Harvard Medical School, Boston, MA, United States.

C15 A genome-wide assessment of the genetic basis of type 1 diabetes
V. Plagnol¹, D. Clayton¹, K. Downes¹, D. Dunger², H. Leung¹, S. Nutland¹, D. Smyth¹, H. Stevens¹, N. Walker¹, Wellcome Trust Case Control Consortium, J. Todd¹;
¹Cambridge Institute for Medical Research, Cambridge, United Kingdom, ²University of Cambridge, Cambridge, United Kingdom.

C16 Identification of TGFB1 as the first gene associated with otosclerosis
M. Thys¹, I. Schrauwen¹, K. Vanderstraeten¹, K. Janssens¹, N. Dieltjens¹, K. Van Den Bogaert¹, E. Fransen¹, W. Chen², M. Ealy², M. Claustres³, C. R. W. J. Cremers⁴, I. Dhooge⁵, F. Declau⁶, J. Claes⁶, P. Van de Heyning⁶, R. Vincent⁷, T. Somers⁸, E. Offeciers⁸, R. J. H. Smith², G. Van Camp¹;
¹Department of Medical Genetics, Wilrijk, Belgium, ²Molecular Otolaryngology Research Laboratories, Iowa City, IA, United States, ³Laboratoire de Genetique Moleculaire et chromosomique CHU, Montpellier, France, ⁴Department of Otorhinolaryngology, Nijmegen, The Netherlands, ⁵Department of Otorhinolaryngology, Gent, Belgium, ⁶Department of ORL, Edegem, Belgium, ⁷Jean Causse Ear Clinic, Colombiers, France, ⁸University Department of Otolaryngology, Wilrijk, Belgium.

C17 Origin of the Etruscans: novel clues from the Y chromosome lineages
A. Piazza¹, N. Cerutti¹, C. Di Gaetano¹, F. Crobu¹, A. Kouvatsi², C. Triantaphyllidis², D. Palli³, A. Achilli⁴, S. Fornarino⁴, V. Battaglia⁴, S. Santachiara Benerecetti⁴, P. A. Underhill⁵, G. Matullo¹, L. L. Cavalli-Sforza⁵, A. Torroni⁴, O. Semino⁴;
¹Dipartimento di Genetica, Biologia, Biochimica, Torino, Italy, ²Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece, ³Molecular and Nutritional Epidemiology Unit, CSPO-Scientific Institute of Tuscany Region,, Florence, Italy, ⁴Dipartimento di Genetica e Microbiologia, University of Pavia, Pavia, Italy, ⁵Genetics Department, Stanford University, Stanford, California, CA, United States.

C18 Epidemics of viral haemorrhagic fever in Medieval times as a possible selection pressure for CCR5del32 in Europe: new insights from Croatian island isolates
Z. Biloglav¹, M. Smoljanovic², C. Hayward³, A. Vorko-Jovic¹, I. Kolcic¹, O. Polasek¹, L. Zgaga¹, N. Hastie³, H. Campbell⁴, A. Wright³, I. Rudan⁴;
¹Faculty of Medicine, Zagreb, Croatia, ²Faculty of Medicine, Split, Croatia, ³MRC Human Genetics Unit, Edinburgh, United Kingdom, ⁴Faculty of Medicine, Edinburgh, United Kingdom.

C04 New technological advances in genomics
Chair: A. Metspalu

C19 Reconstructing functional gene loci using PCR
S. Kraner, S. Christan, M. Zoller, C. Jung, D. Schindelhauer;
Human Artificial Chromosome Group, Livestock Biotechnology, Life Sciences Center Weihenstephan, Technical University Munich, Freising, Germany.

C20 Single cell microRNA and mRNA profiling reveals unique gene expression signatures and heterogeneities in mouse ES cells
C. Chen¹, R. Tan¹, D. Ridzon¹, L. Bahreinifar¹, K. Guegler¹, W. M. Strauss²;
¹Applied Biosystems, Foster City, CA, United States, ²University of Colorado-Boulder, Boulder, CO, United States.

C21 A High Resolution Oligonucleotide CpG Island Microarray
C. Foo, D. B. Gordon, S. Shchegrova, S. B. Giles, E. M. LeProust, S. B. Milligan, C. Hopkins, A. Bhattacharjee, R. Mukherjee Saxena, D. N. Roberts;
Agilent Technologies, Santa Clara, CA, United States.

C22 Cost-effective screening of deletions and duplications of up to 1500 loci in one assay: a bead-based approach
E. Aten¹, S. White¹, M. Kriek¹, M. Bibikova², L. Zhou², E. Wickham-Garcia², J. Fan², M. H. Breuning¹, J. T. den Dunnen¹;
¹Leiden University Medical Center, Leiden, The Netherlands, ²Illumina Inc, San Diego, CA, United States.

C23 Literature-aided interpretation of microarray data: a compendium study on muscle development and disease
P. A. C. 't Hoen¹, R. Jelier², E. Sterrenburg¹, J. T. den Dunnen¹, G. B. van Ommen¹, J. A. Kors², B. Mons^1,2;
¹Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands, ²Erasmus MC - University Medical Center Rotterdam, Biosemantics Group, Department of Medical Informatics, Rotterdam, The Netherlands.

C24 Producing a reference human gene set
J. A. Rajan, A. Frankish, E. A. Hart, J. G. R. Gilbert, L. Gordon, E. Griffiths, R. Storey, S. Dyer, V. Curwen, S. Searle, L. Wilming, J. Harrow, T. Hubbard;
Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

C05 Prenatal diagnosis
Chair: E. Tizzano

C25 How healthy are children born after preimplantation genetic diagnosis?
I. Liebaers, W. Verpoest, S. Desmyttere, M. De Rycke, C. Staessen, K. Sermon, A. Michiels, K. Boelaert, J. Van der Elst, P. Devroey, M. Bonduelle;
Research centre for reproductive genetics, Vrije Universiteit Brussel – uzbrussel, Brussels, Belgium.

C26 The use of proteomic methods to search for biomarkers in maternal plasma from trisomy 21 pregnancies.
W. E. Heywood¹, T. E. Madgett², A. Wallington², J. Hogg¹, K. Mills¹, N. D. Avent², L. S. Chitty¹;
¹Institute of Child Health, London, United Kingdom, ²University of the West of England, Bristol, United Kingdom.

C27 Investigation of New Markers for Improved Isolation of Fetal Trophoblast Cells in Maternal Peripheral Circulation
E. Guetta¹, L. Gutstein-Abo^1,2, A. Sacher³, G. Desoye⁴, G. Barkai¹;
¹Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel, ²Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel, ³The Maiman Institute for Proteome Research, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel-Aviv, Israel, ⁴Department of Obstetrics and Gynecology, University of Graz, Graz, Austria.

C28 APEX microarrays for the non-invasive prenatal diagnosis of beta-thalassaemia
T. E. Papasavva¹, I. Kallikas², S. Papacharalambous², A. Kyrri³, L. Kythreotis³, H. Roomere⁴, M. Kleantous¹;
¹The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, ²Archibishop Makarios III Hospital,, Nicosia, Cyprus, ³Cyprus Thalassaemia Center, Nicosia, Cyprus, ⁴Asper Biotech Ltd, Tartu, Estonia.

C29 Prenatal diagbosis in Denmark after the introduction of nuchal translucency screening
S. Kjaergaard¹, J. M. Hahnemann¹, L. Skibsted², L. Neerup³, L. Sperling⁴, H. Zingenberg⁵, A. Kristiansen⁶, K. Brondum-Nielsen¹;
¹Kennedy Institute, Glostrup, Denmark, ²Roskilde Hospital, Roskilde, Denmark, ³Gentofte Hospital, Gentofte, Denmark, ⁴Herlev Hospital, Herlev, Denmark, ⁵Glostrup Hospital, Glostrup, Denmark, ⁶Naestved Hospital, Naestved, Denmark.

C30 Prenatal detection of partial chromosome imbalance by Quantitative Fluorescent PCR (QF-PCR)
V. Cirigliano^1,2, G. Voglino³, E. Ordoñez^1,2, A. Plaja¹, C. Fuster²;
¹General Lab, Barcelona, Spain, ²Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain, ³Promea Day Surgery, Torino, Italy.