Saturday, May 25, 2002 - Sunday, May 26, 2002 - Tuesday, May 28, 2002 - Schedule

08.45 -
10.45
Erasme

PS11: Cardiac development and Cardiovascular malformation  (40')
J. Goodship, D. Henderson;
Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UNITED KINGDOM

PS12: Hypertrophic cardiomyopathy: more than just a disease of the sarcomere  (40')
H. Watkins (Oxford)

PS13: Molecular Mechanisms in Myotonic Dystrophy (DM1)  (40')
T. Cooper (Houston, TX)
 

W 4 Syndrome identification 2
Organisers: D. Donnai, R. Winter

C 4 Cytogenetics
Chair: O. Zuffardi, A. Schinzel

C20. Prospective screening for cytogenetic anomalies, including subtelomeric rearrangements, in children with mental retardation of unknown etiology: The Amsterdam experience  (15')
C. D. M. van Karnebeek, C. Koevoets, R. C. M. Hennekam, J. M. N. Hoovers;
Department of Clinical Genetics, Academic Medical Center, Amsterdam, NETHERLANDS. 

C21. Screening Cryptic Telomeric Rearrangements In Children With Idiopathic Mental Retardation Using An Automated Fluorescent Genotyping Strategy.  (15')
M. Rio¹, F. Molinari¹, S. Heuertz¹, C. Turleau², M. de Blois², O. Raoul², M. Prieur², S. Romana², M. Vekemans², A. Munnich^1,2, L. Colleaux¹;
¹INSERM U393, Hopital Necker-Enfants Malades, Paris, FRANCE, ²Department of Genetics, Hopital Necker-Enfants Malades, Paris, FRANCE. 

C22. Screening of dysmorphic and mentally retarded subjects with high resolution comparative genomic hybridization  (15')
M. Kirchhoff¹, H. Rose¹, M. Dunø², T. Gerdes¹, C. Lundsteen¹;
¹Department of Clinical Genetics, Rigshospitalet, Copenhagen, DENMARK, ²Fertility Clinic, Rigshospitalet, Copenhagen, DENMARK. 

C23. Screening for telomeric rearrangements in mental retardation patients using CGH-array.  (15')
S. P. du Manoir¹, R. Redon¹, T. Hussenet¹, S. Wicker¹, L. Colleaux², S. Struski¹;
¹INSERM U184, IGBMC, Illkirch, C.U. de Strasbourg, FRANCE, ²Inserm U393, Hopital NECKER-ENFANTS MALADES, Paris, FRANCE. 

C24. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation  (15')
S. Giglio¹, V. Calvari¹, G. Gregato¹, G. Gimelli², S. Camanini¹, R. Giorda³, A. Ragusa⁴, S. Guerneri⁵, A. Selicorni⁶, M. Stumm⁷, H. Tönnies⁸, M. Ventura⁹, M. Zollino¹⁰, G. Neri¹⁰, J. Barber¹¹, D. Wieczorek¹², M. Rocchi⁹, O. Zuffardi^1,13;
¹Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ITALY, ²Laboratorio di Citogenetica, Istituto Gaslini, Genova, ITALY, ³IRCCS E. Medea, Bosisio Parini, Lecco, ITALY, ⁴IRCCS Oasi Maria SS, Troina, Enna, ITALY, ⁵Laboratorio di Genetica, Istituti Clinici di Perfezionamento, Milano, ITALY, ⁶Clinica Pediatrica Università di Milano, Milano, ITALY, ⁷Institut fur Humangenetik, Otto-von-Guericke-Universität, Magdeburg, GERMANY, ⁸Department of Human Genetics, Charité, Campus Virchow, Humboldt-Universität, Berlin, GERMANY, ⁹Institute of Genetics, Bari, ITALY, ¹⁰Istituto di Genetica Medica, Universita Cattolica, Roma, ITALY, ¹¹Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Salisbury District Hospital, Salisbury, UNITED KINGDOM, ¹²Institut für Humangenetik, Universitaetsklinikum Essen, Essen, GERMANY, ¹³IRCCS Policlinico San Matteo, Pavia, ITALY. 

C25. Complex chromosome rearrangement with neocentromere formation in a fetus with IUGR.  (15')
P. C. Warburton, J. Barwell, M. Splitt, D. Maxwell, C. Mackie Ogilvie;
Guy's Hospital, London, UNITED KINGDOM. 

 

C26. Genotype and Phenotype analysis of 127 patients with Noonan Syndrome.  (15') 
A. Shaw¹, I. van der Burgt², H. G. Brunner², K. Noordam², K. Kalidas¹, A. H. Crosby¹, A. Ion¹, S. Jeffery¹, M. A. Patton¹, M. Tartaglia³, B. D. Gelb³;
¹St George's Hospital Medical School, London, UNITED KINGDOM, ²University Hospital, Nijmegen, NETHERLANDS, ³Mount Sinai School of Medicine, New York, NY. 

C27. A chromosomal translocation family and mutation detection identifies MAF as a new human disease gene in ocular anterior segment development  (15')
R. V. Jamieson^1,2, R. Perveen¹, B. Kerr¹, M. Carette¹, N. Farrar¹, D. Donnai¹, F. Munier³, G. C. M. Black^1,4;
¹St Mary's Hospital, Manchester, UNITED KINGDOM, ²Children's Hospital at Westmead, Sydney, AUSTRALIA, ³Hopital Ophtalmique Jules Gonin, Lausanne, SWITZERLAND, ⁴Manchester Royal Eye Hospital, Manchester, UNITED KINGDOM. 

C28. Analysis of the phenotypic abnormalities in Lymphoedema Distichiasis Syndrome in 74 patients with FOXC2 mutations or linkage to 16q24  (15')
S. Mansour, G. Brice, V. Murday, S. Jeffery, P. Mortimer;
St George's Hospital Medical School, London, UNITED KINGDOM. 

C29. Mutations in the SIP1 gene cause a distinctive dysmorphic syndrome with or without HSCR  (15') 
D. Mowat^1,2, M. Wilson³, S. Worthington⁴, H. Kaarianen⁵, C. Curry⁶, S. Aftimos⁷, J. Clayton-Smith⁸, D. Donnai⁸, S. Braddock⁹, C. Barrey¹⁰, F. Dastot-Le Moal¹¹, V. Cacheux¹¹, M. Goossens¹¹;
¹Sydney Children's Hospital, Sydney, AUSTRALIA, ²University of New South Wales, Sydney, AUSTRALIA, ³The Children's Hospital at Westmead, Sydney, AUSTRALIA, ⁴Genetic Services of Western Australia, Subiaco, AUSTRALIA, ⁵The Family Federation of Finland, Helsinki, FINLAND, ⁶Valley Children's Hospital/UCSF, Madera, CA, ⁷Northern Regional Genetic Service, Auckland, NEW ZEALAND, ⁸St Mary's Hospital, Manchester, UNITED KINGDOM, ⁹University of Missouri-Columbia, Missouri, MO, ¹⁰Hopital Saint-Camille, Bry-sur-Marne, FRANCE, ¹¹INSERM u468 et service de Biochimie et Genetique, Hopital Henri Mondor, Creteil, FRANCE. 

C30. A classification of disorders with abnormal vertebral segmentation  (15') 
P. D. Turnpenny^1,2, J. Duncan², S. Ellard²;
¹Royal Devon & Exeter Hospital, Exeter, UNITED KINGDOM, ²University of Exeter, Exeter, UNITED KINGDOM. 

C31. A systematic study of limb defects in Denmark.  (15') 
K. W. Kjaer¹, J. Hedeboe², M. Bugge¹, C. Hansen¹, K. Friis-Henriksen¹, J. M. Opitz³, N. Tommerup¹;
¹Wilhelm Johannsen Centre for Functional Genome Research, Panum Institute, University of Copenhagen, Copenhagen, DENMARK, ²Department of Orthopedic Surgery, Næstved Hospital, Næstved, DENMARK, ³Department of Pediatrics (Medical Genetics), Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, UT. 

C32. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.  (15') 
N. Katsanis¹, S. J. Ansley¹, J. L. Badano¹, E. R. Eichers¹, R. A. Lewis^1,2,3,4,5, B. Hoskins⁶, P. J. Scambler⁶, W. S. Davidson⁷, P. L. Beales⁶, J. R. Lupski^1,3,5;
¹Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, ²Department of Ophthalmology, Baylor College of Medicine, Houston, TX, ³Department of Pediatrics, Baylor College of Medicine, Houston, TX, ⁴Department of Medicine, Baylor College of Medicine, Houston, TX, ⁵The Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, ⁶Molecular Medicine Unit, Institute of Child Health, University College, London, UNITED KINGDOM, ⁷Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, CANADA. 

C33. A Mutation in ARH Gene and a Chromosome 13q Locus Influence Cholesterol Levels in a New Form of Digenic Recessive Familial Hypercholesterolemia  (15') 
H. A. Al-Kateb^1,2,3, S. Baehring⁴, K. Hoffmann⁴, K. Strauch⁵, A. Busjahn⁴, G. Nurenberg⁴, M. Jouma², E. Bautz³, H. Dresel³, F. C. Luft⁴;
¹Max-Delbruck-Center for Molecular Medicine, Berlin, GERMANY, ²Damascus University, Damascus, SYRIAN ARAB REPUBLIC, ³Heidelberg University, Heidelberg, GERMANY, ⁴Max-Delbruck-Center, Berlin, GERMANY, ⁵Institute for Medical Biochemistry, Informatics and Epidemiology, Bonn, GERMANY. 

C34. Large deletion of GJB6 gene in deaf patients heterozygous for GJB2 gene : genotype and phenotype analysis  (15') 
S. Marlin¹, F. Denoyelle², D. Feldmann³, I. Del Castillo⁴, S. Odent⁵, A. Joannard⁶, F. Moreno⁴, N. Garabedian², C. Petit⁷;
¹Unité de Génétique, Hôpital d'Enfants Armand Trousseau, AP-HP, Paris, FRANCE, ²Service d’ORL, Hôpital d'Enfants Armand Trousseau, AP-HP, Paris, FRANCE, ³Service de Biochimie, Hôpital d'Enfants Armand Trousseau, AP-HP, Paris, FRANCE, ⁴Unidad de Genetica Molecular, Hospital Jamon y Cajal, Madrid, SPAIN, ⁵Unité de Génétique, Hôpital de Pontchaillou, Rennes, FRANCE, ⁶Service de Pédiatrie, CHU, Grenoble, FRANCE, ⁷Unité de Génétique des Déficits Sensoriels, Institut Pasteur, Paris, FRANCE. 

C35. Genetic and functional analysis of connexins in skin disease and deafness.  (15') 
J. E. A. Common, W. Di, I. M. Leigh, D. P. Kelsell;
Barts and The London Queen Mary's School of Medicine and Dentistry, London, UNITED KINGDOM. 

C36. Inherited glomuvenous malformations are caused by the combination of a germline and a somatic “second hit” mutation in the glomulin gene  (15') 
P. Brouillard¹, M. Ghassibe¹, L. Boon², O. Enjolras³, J. Mulliken⁴, M. Vikkula¹;
¹Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Brussels, BELGIUM, ²Center for Vascular Anomalies, Division of Plastic Surgery, Université catholique de Louvain, Brussels, BELGIUM, ³Consultation des Angiomes, Hôpital Lariboisière, Paris, FRANCE, ⁴Vascular Anomlies Center, Children's Hospital, Harvard Medical SChool, Boston, MA. 

C37. Coding region mutations in three acyl-CoA dehydrogenase genes may have unforeseeable consequences due to disruption of potential splice enhancer sequences  (15') 
B. S. Andresen¹, K. B. Nielsen², T. J. Corydon², L. D. Schroeder², J. Kjems², N. Gregersen²;
¹Aarhus University, Aarhus N., DENMARK, ²Aarhus University, Aarhus, DENMARK. 
 

S 4 CNS function in man and model organisms
Chair: N.N.

S11. The search for autism susceptibility genes  (30')
 A. Monaco¹, IMGSAC², SLIC³;
¹Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UNITED KINGDOM, ²The International Molecular Genetic Study of Autism Consortium (http://www.well.ox.ac.uk/~maestrin/iat.html), ³The Specific Language Impairment Consortium (http://www.well.ox.ac.uk/monaco/dianne/index.shtml)

S12. C. elegans: an animal model for high-throughput functional genomics  (30')
R. Baumeister;
ABI/Biochemistry, Laboratory of Molecular Neurogenetics, Ludwig-Maximilians-University, Munich, GERMANY

S13. Proteolysis and Alzheimer's disease  (30')
C. Haass (Munich)
 

S14. Molecular karyotyping and array CGH  (30')
P. Lichter (Heidelberg)

S15. Multicolor FISH in two and three-dimensions  (30')
M. R. Speicher^1,2, J. Kraus^1,2, R. Gangnus¹, C. Maierhofer¹, I. Jentsch¹, S. Langer¹, G. Lederer¹, C. Keri¹, C. Fauth^1,2;
¹Institut für Humangenetik, Technische Universität München, Munich, GERMANY, ²Institut für Humangenetik, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, GERMANY

S16. Measuring gene dosage by multiplex amplifiable probe hybridization  (20')
J. A. L. Armour, E. J. Hollox;
Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham, UNITED KINGDOM

S17. Multiplex PCR of Short Fluorescent Fragments: a simple, fast and reliable method for the detection of heterozygous genomic rearrangements  (10')
T. Frebourg^1,2, F. Charbonnier², F. Casilli¹, G. Raux¹, P. Saugier-Veber^1,2, N. Drouot², M. Tosi¹;
¹INSERM EMI 9906, Faculty of Medicine, Rouen, FRANCE, ²Department of Genetics, CHU, Rouen, FRANCE
 

S18. Junctional Epidermolysis Bullosa: clinical and molecular features  (30')
A. Hovnanian (Toulouse)

S19. Toward Gene Therapy of Junctional Epidermolysis Bullosa (JEB)  (30')
M. De Luca¹, E. Dellambra¹, G. Pellegrini¹, L. Guerra¹, S. Bondanza¹, F. Mavilio²;
¹Laboratory of Tissue Engineering, Istituto Dermopatico dell'Immacolata, Rome, ITALY, ²Institute of Biochemistry, University of Modena, Modena, ITALY

S20. Anhidrotic ectodermal dysplasia with immunodeficiency is associated with genetic defects in the NF-kB pathway (30')
J. L. Casanova;
Laboratoire de Génétique Humaine des Maladies Infectieuses,  Faculté de Médecine Necker-Enfants Malades, Paris, FRANCE

Saturday, May 25, 2002 - Sunday, May 26, 2002 - Tuesday, May 28, 2002 - Schedule