ESHG 2008 - Concurrent Sessions C11-C15

Tuesday, June 3, 2008
 Concurrent Sessions C11 - C15
 

* ESHG Young Investigator Award candidates - Profiles available here
10.45 - 12.15 C11 Clinical Genetics III

C12 Molecular and biochemical basis of disease

 C13 Normal variation, population genetics, genetic epidemiology C14 Genetic counselling, education, genetic services, and public policy C15 Therapy for genetic disease

10.45

C11.1 Identification of causative mutations, including a ZRS sonic hedgehog regulatory variant, in an unselected cohort of 203 patients with congenital limb malformations
D. Furniss1,2, S. Kan1, P. S. Critchley2, H. Giele2, A. O. M. Wilkie1;
1Weatherall Institute of Molecular Medicine, Oxford, United Kingdom, 2Department of Plastic and Reconstructive Surgery, Oxford, United Kingdom.

C12.1 Mutations in Pericentrin cause microcephalic dwarfism (Seckel syndrome) with defective ATR-dependent DNA damage signalling
A. P. Jackson1, E. Griffith1, S. Walker2, C. Martin1, P. Vagnarelli3, T. Stiff2, B. Vernay1, N. Al Sanna4, A. Saggar5, B. Hamel6, W. C. Earnshaw3, P. A. Jeggo2, M. O'Driscoll2;
1MRC Human Genetics Unit, Edinburgh, United Kingdom, 2Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom, 3Wellcome Trust Centre for Cell Biology, University of Edinburgh, Edinburgh, United Kingdom, 4Pediatric Services Division, Dhahran Health Center, Dhahran, Saudi Arabia, 5Southwest Thames Regional Genetics Service, St. George's Hospital Medical School, London, United Kingdom, 6Radboud University Nijmegen Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.

C13.1 A genome-wide scan of adult human stature and skeletal size
 N. Soranzo1, F. Rivadeneira2, U. Chinappen3, M. Inouye1, B. J. Richards3, S. Potter1, R. Gwilliam1, K. Papadakis4, E. Wheeler1, I. Barroso1, D. Hart5, G. Livshits6, R. J. F. Loos7, D. Strachan4, N. J. Wareham7, T. D. Spector3, A. Uitterlinden2, P. Deloukas1;
1The Wellcome Trust Sanger Institute, Hinxton, United Kingdom, 2Erasmus MC, Rotterdam, The Netherlands, 3School of Medicine, King’s College London, London, United Kingdom, 4St George's, University of London, London, United Kingdom, 5St. Thomas' Hospital, London, United Kingdom, 6Tel Aviv University, Tel Aviv, Israel, 7Institute of Metabolic Science, Cambridge, United Kingdom.

C14.1 The ethics of undertaking research in other countries
L. Skene;
University of Melbourne, University of Melbourne, Australia.

C15.1* Systemic antisense-mediated exon skipping studies in mouse models for Duchenne muscular dystrophy
A. Aartsma-Rus1, H. A. Heemskerk1, C. L. de Winter1, M. van Putten1, A. A. M. Janson2, S. de Kimpe2, J. C. T. van Deutekom2, G. B. van Ommen1;
1Leiden University Medical Center, Leiden, The Netherlands, 2Prosensa BV, Leiden, The Netherlands.
11.00 C11.2* Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene
K. P. Hoornaert, C. Dewinter, I. Vereecke, P. J. Coucke, G. R. Mortier;
Center for Medical Genetics, Gent, Belgium.		 C12.2* Polycomb complex shapes the higher order of D4Z4 chromatin structure during differentiation of normal and FSHD muscle stem cells
B. Bodega1, S. Brunelli2,3, F. Grasser4, N. Locatelli1, R. Meneveri2, A. Marozzi1, S. Mueller4, E. Battaglioli1, E. Ginelli1;
1Dept. of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy, 2Dept. of Experimental Medicine, University of Milan-Bicocca, Monza, Italy, 3Stem Cell Research Institute (SCRI), DIBIT H San Raffaele, Milan, Italy, 4Dept. of Biology II – Anthropology and Human Genetics, Ludwig Maximilians University, Munich, Germany.		 C13.2 Super-hotspots for Meiotic Recombination in the Human Genome
I. L. Berg, A. J. Webb, A. J. Jeffreys;
Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom.		 C14.2 Direct-to-consumer services. A review of the debate
P. Borry;
Centre for Biomedical Ethics and Law, Leuven, Belgium.

C15.2 Restoration of aberrant splicing and neurofibromin function in three NF1 deep intronic mutations by antisense morpholino oligonucleotides (AMOs)
 E. Pros1,2, J. Fernández1, B. Canet1, L. Benito3, A. Benavides4, F. J. Ramos5, M. A. López-Ariztegui6, G. Capellá1, I. Blanco7, E. Serra8, C. Lázaro1;
1Laboratori Recerca Translacional, Institut Català d'Oncologia, Hospitalet de Llobregat, Barcelona, Spain, 2Genetics Department, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain, 3Unitat Consell Genètic, Institut Català d'Oncologia, Hospitalet de Llobregat, Barcelona, Spain, 4Genética, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain, 5Dpto. Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain, 6Genética, Hospital de Cruces, Bilbao, Vizkaya, Spain, 7Unitat de Consell Genètic, Institut Català d'Oncologia, Hospitalet de Llobregat, Barcelona, Spain, 8Genetics Department, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
11.15 C11.3 Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
B. L. Callewaert1, B. L. Loeys1, A. Ficcadenti2, S. Vermeer3, M. Landgren4, H. Y. Kroes5, Y. Yaron6, M. Pope7,8, N. Foulds9, O. Boute10, F. Galan11, H. Kingston12, N. Van der Aa13, M. E. Swinkels5, I. Salcedo14, C. Wallgren-Pettersson15,16, O. Gabrielli2, J. De Backer1, P. J. Coucke1, A. M. De Paepe1;
1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, 2Paediatric department, Salesi Children Hospital, Ancona, Italy, 3Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 4Department of Paediatrics, Skaraborg Hospital, Skövde, Sweden, 5Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands, 6Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, 7Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom, 8Department of Pathology, Cambridge University, Cambridge, United Kingdom, 9Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom, 10Service de Génétique Clinique, Centre Hospitalier Régional Universitaire de Lille, France, Lille, France, 11Centro de Genética Humana, Universidad de Alicante, Spain, Alicante, Spain, 12Regional Genetic Service, St-Mary’s Hospital, Manchester, UK, Manchester, United Kingdom, 13Center for Medical Genetics, University Hospital of Antwerp, Antwerp, Belgium, 14Center for Medical Genetics, Hospital Comarcal Santiago Apostol, Miranda De Ebro, Burgos, Spain, 15Department of Medical Genetics, University of Helsinki, Helsinki, Finland, 16The Folkhälsan Institute of Genetics, Helsinki, Finland.		 C12.3* Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A
B. Aranda Orgilles1, J. Aigner1, R. Schneider1,2, S. Schweiger1,3;
1Max Planck Institute for Molecular Genetics, Berlin, Germany, 2Institute of Biochemistry, Innsbruck, Austria, 3Division of Pathology and Neuroscience, Ninewells Hospital, Dundee, United Kingdom.		 C13.3 A full survey of common copy number variation in the human genome
R. Redon1, D. F. Conrad1, L. Feuk2, C. Lee3, S. W. Scherer2, M. E. Hurles1, N. P. Carter1;
1Wellcome Trust Sanger Institute, Cambridge, United Kingdom, 2The Hospital for Sick Children, Toronto, ON, Canada, 3Brigham and Women’s Hospital, Boston, MA, United States.		 C14.3 Preventive genetic screening in the isolated community: lessons learned
L. Basel-Vanagaite1,2, E. Taub3, L. Rainshtein3, V. Drasinover3, N. Magal3, J. Zlotogora4, M. Shohat3;
1SCMCI and Rabin Medical Center, Petah Tikva, Israel, 2Tel Aviv University, Tel Aviv, Israel, 3Rabin Medical Center, Petah Tikva, Israel, 4Department of Community Genetics, Ministry of Health and Hadassah Medical School Hebrew University, Jerusalem, Israel, Tel Hashomer, Israel.

C15.3* Antisense therapeutics for a new deep intronic variation identified in two Methylmalonic Acidemia patients
A. Rincón, L. R. Desviat, M. Ugarte, B. Pérez;
Centro de Biología Molecular Severo Ochoa. CIBERER, Madrid, Spain.

 

 
11.30 C11.4* Phenotypic Characterization of Poland Syndrome Based on a Series of 122 Patients
A. Baban1, A. Buluggiu2, M. T. Divizia1, S. Bianca3, M. Torre2, S. Gimelli4, M. Valle5, M. G. Calevo6, G. Gimelli1, F. M. Sénès7, R. Ravazzolo1,8, V. Jasonni2, M. Lerone1;
1Laboratory of Molecular Genetics and Cytogenetics, Gaslini Children Hospital, Genova, Italy, 2Department of Pediatric Surgery , Gaslini Children Hospital, Genova, Italy, 3Center of Genetic and Teratologic Counselling, Fetomaternal Department, ARNAS Garibaldi-Nesima, Catania, Italy, 4Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, Geneva, Switzerland, 5Department of Radiology, Gaslini Children Hospital, Genova, Italy, 6Epidemiology and Biostatistics Section of Scientific Direction, Gaslini Children Hospital, Genova, Italy, 7Department of Orthopedic and Traumatology, Gaslini Children Hospital, Genova, Italy, 8Department of Pediatrics and CEBR, University of, Genova, Italy.		 C12.4 A centrosomal protein molecularly links Usher syndrome to Leber congenital amaurosis and Bardet-Biedl syndrome in the retina
H. Kremer1,2, E. van Wijk1,3, F. Kersten3,1, N. Zaghloul4, T. Peters1, A. Kartono3,2, S. Letteboer3,2, U. Wolfrum5, N. Katsanis4, R. Roepman3,2;
1Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands, 3Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 4Departments of Ophthalmology and Molecular Biology and Genetics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States, 5Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany.		 C13.4* Gene expression variation from peripheral blood in the general population - the KORA study
D. Mehta1, K. Heim1, T. Illig2, H. Wichmann2,3, T. Meitinger1,4, H. Prokisch1,4;
1Helmholtz Zentrum München - Institute of Human Genetics, Munich, Germany, 2Helmholtz Zentrum München - Institute of Epidemiology, Munich, Germany, 3Institute of Medical Informatics,Biometry and Epidemiology, LMU, Munich, Germany, 4Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.		 C14.4 Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose?
C. J. Van Asperen1, G. H. De Bock2, B. Siegerink1,3, C. E. Jacobi3;
1Center for Human and Clinical Genetics, Leiden, The Netherlands, 2Dept. Epidemiology, University Medical Center Groningen, Groningen, The Netherlands, 3Dept. Medical Decision Making, Leiden, The Netherlands.

C15.4* Rescue of a Lethal Murine Model of Methylmalonic Acidemia using AAV 8 Mediated Gene Therapy
R. J. Chandler, C. Venditti;
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
11.45 C11.5 Distal limb deficiency, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
B. I. Dimitrov1, T. d. Ravel1, C. d. Die-Smulders2, A. Toutain3, J. R. Vermeesch1, J. Fryns1, K. Devriendt1, P. Debeer1;
1Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium, 2Department of Clinical Genetics, University Hospital of Maastricht, University of Maastricht, Maastricht, The Netherlands, 3Genetic Service, University Hospital Bretonneau, University of Tours, Tours, France.		 C12.5* Study of the role of the Ofd1 transcript in limb patterning and endochondral bone development
S. Bimonte1, L. Quagliata1, R. Tammaro1, M. Ascenzi2, B. Franco1,3;
1Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy, 2Department of Orthopaedic Surgery, Biomechanics Research Division, University of California, Los Angeles, CA, United States, 3Department of Pediatrics, University Federico II, Naples, Italy.		 C13.5 The genetic control of microRNA expression variation in Humans
C. Borel, S. Deutsch, H. Attar, M. Gagnebin, C. Gehrig, E. Falconnet, Y. Dupré, S. E. Antonarakis;
Department of Genetic Medicine and Development, University of Geneva Medical School, CH, Geneva, Switzerland.		 C14.5* Treatable and untreatable diseases in the neonatal-screening programme: the opinion of future parents in The Netherlands
A. C. Plass1,2, L. Krijgsman1,2, L. Gieling1,2, C. G. van El1,2, T. Pieters1, M. C. Cornel1,2;
1VU University medical center, Amsterdam, The Netherlands, 2EMGO-institute, Amsterdam, The Netherlands.

C15.5* Evaluating suppression of nonsense mutations by aminoglycoside antibiotics as an intervention for vision loss in type I Usher syndrome
A. Rebibo Sabbah1, I. Nudelman2, Z. M. Ahmed3, T. B. Friedman3, T. Baasov2, T. Ben-Yosef1;
1Genetics Department, Rappaport Faculty of Medicine, Technion, Haifa, Israel, 2Department of chemistry, Institute of Catalysis Science and Technology, Technion, Haifa, Israel, 3Laboratory of Molecular Genetics, National Institute on Deafness and other Communication Disorders, NIH, Rockville, MD, United States.
12.00 C11.6 Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
B. Horsthemke1, S. Fischer1, J. Kohlhase2, D. Böhm2, B. Schweiger1, M. Heitmann1, D. Wieczorek1;
1Universitätsklinikum Essen, Essen, Germany, 2Praxis für Humangenetik, Freiburg, Germany.		 C12.6 Integration into molecular diagnostic procedures of systematic screening for sequence variants of unknown significance using a splicing reporter minigene
 M. Vezain1, I. Tournier1, A. Martins1, C. Bonnet1, S. Krieger2, S. Baert-Desurmont1, A. Killian1, A. Hardouin2, T. Frébourg1,3, M. Tosi1;
1Inserm U614, Faculty of Medicine, Rouen, France, 2Laboratory of Clinical and Oncological Biology, Centre François Baclesse, Caen, France, 3Department of Genetics, University Hospital, Institute for Biomedical Research, Rouen, France.		 C13.6* Comparison of different methods to estimate genetic ancestry and control for stratification in genome-wide association studies
E. Salvi1,2, G. Guffanti1, A. Orro2, F. Torri1, S. Lupoli3, J. Turner4, D. Keator4, J. Fallon4, S. Potkin4, C. Barlassina1, D. Cusi1, L. Milanesi2, F. Macciardi1;
1Department of Science and Biomedical Technology, University of Milan, Milan, Italy, 2ITB CNR, Segrate, Milan, Italy, 3INSPE, Milan, Italy, 4Department of Psychiatry and Human Behavior University of California, Irvine, CA, United States.		 C14.6 Promoting clinically relevant genetics education for medical trainees: the importance of educational outcomes and resources for each stage of medical training
M. Martyn1, S. Burke2, C. Bennett1, A. Stone3, E. Harvey1, R. Newton1, P. Farndon1;
1NHS National Genetics Education and Development Centre, Birmingham, United Kingdom, 2Centre for Research in Medical and Dental Education, Birmingham, United Kingdom, 3Thornley Street Practice, Wolverhampton, United Kingdom.

P10.08* Mechanism of CMT1A phenotypic correction by high dose of ascorbic acid
S. Belin1, F. Kaya1, G. Diamantidis2, M. Fontes1;
1INSERM, Marseille, France, 2University, Thessaloniki, Greece.
  * ESHG Young Investigator Award candidates - Profiles available here