Concurrent Sessions
Tuesday, May 9, 2006, 10.45 - 12.15 hrs - Room N-N1-O-O1
C12. Molecular dysmorphology
C70. Cranio-lenticulo-sutural dysplasia is caused by a
SEC23A mutation disrupting ER-to-Golgi trafficking
S. A. Boyadjiev1, J. Fromme2,
C. Nauta1, W. Eyaid3, R. Schekman2,4, L. Orci5;
1McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD,
United States, 2Department of Molecular and Cellular Biology,
University of California, Berkeley, CA, United States, 3Department of
Pediatrics, King Fahad Hospital, Khasim Alaan, 11426 Riyadh, Saudi Arabia,
4Howard Hughes Medical Institute, Berkeley, CA, United States, 5Department
of Morphology, University of Geneva Medical Center, 1211 Geneva 4, Switzerland.
C71. The transmembrane protein meckelin (MKS3) is
mutated in Meckel-Gruber syndrome
U. M. Smith1, S. Pasha1, S.
M. Sharif2, P. A. Batman3, C. P. Bennett2, C.
Woods4, C. McKeown5, P. Cox6, T. Attie-Bitach7,
C. A. Johnson1;
1Section of Medical and Molecular Genetics, University of Birmingham,
United Kingdom, 2Clinical Genetics, St. James’ Hospital, United
Kingdom, 3Department of Histopathology, Bradford Royal Infirmary,
United Kingdom, 4Department of Medical Genetics, University of
Cambridge, United Kingdom, 5Clinical Genetics Unit, Birmingham
Women's Hospital, United Kingdom, 6Department of Histopathology,
Birmingham Women's Hospital, United Kingdom, 7Département de
Génétique et INSERM U-393, Hôpital Necker Enfants-Malades, France.
C72. Germline mutations of proto-oncogenes in the
RAS-RAF-ERK pathway cause Costello syndrome and cardio-facio-cutaneous (CFC)
syndrome
Y. Aoki1, T. Niihori1, Y.
Narumi1, H. Kawame2, K. Kurosawa3, H. Ohashi4,
M. Filocamo5, G. Neri6, H. Cavé7, A. Verloes7,
N. Okamoto8, R. C. M. Hennekam9,10, G. Gillessen-Kaesbach11,
D. Wieczorek11, M. I. Kavamura12, L. Wilson13,
S. Kure1, Y. Matsubara1;
1Tohoku University School of Medicine, Sendai, Japan, 2Nagano
Children’s Hospital, Nagano, Japan, 3Pathology, Kanagawa Children’s
Medical Center, Yokohama, Japan, 4Saitama Children’s Medical Center,
Saitama, Japan, 5IRCCS. G.Gaslini, Genova, Italy, 6Istituto
di Genetica Medica, Rome, Italy, 7Hôpital Robert Debré (APHP), Paris,
France, 8Osaka Medical Center and Research Institute for Maternal and
Child Health, Osaka, Japan, 9Institute of Child Health, London,
United Kingdom, 10Academic Medical Center, Amsterdam, Netherlands
Antilles, 11Universitaet Essen, Essen, Germany, 12Federal
University of Sao Paulo (UNIFESP), Sao Paulo, Brazil, 13Great Ormond
Street Hospital, London, United Kingdom.
C73. Mutations in different components of FGF-signalling
in LADD syndrome
B. Wollnik1,2,3, H. G. Brunner4,
H. Kayserili3, O. Uyguner3, G. Nürnberg5,6, E.
D. Lew7, A. Dobbie8, V. P. Eswarakumar7, A.
Uzumcu3, M. Ulubil-Emeroglu9, J. G. Leroy10, Y.
Li1,2, C. Becker5,6, K. Lehnerdt11, C. W.
Cremers12, M. Yuksel-Apak3, P. Nürnberg1,5,13,
C. Kubisch1,2,13, J. Schlessinger7, H. van Bokhoven4,
E. Rohmann1,2;
1Center for Molecular Medicine Cologne (CMMC), Cologne, Germany,
2Institute of Human Genetics, University of Cologne, Cologne, Germany,
3Medical Genetics Department, Istanbul Medical Faculty, Istanbul
University, Istanbul, Turkey, 4Department of Human Genetics, Radboud
University Nijmegen Medical Center, Nijmegen, The Netherlands, 5Cologne
Center for Genomics, University of Cologne, Cologne, Germany, 6RZPD
Deutsches Ressourcenzentrum für Genomforschung GmbH, Berlin, Germany, 7Department
of Pharmacology, Yale University School of Medicine, New Haven, CT, United
States, 8Genetic Service, St. James’s University Hospital, Leeds,
United Kingdom, 9Ear, Nose and Throat Department, Istanbul Medical
Faculty, Istanbul University, Istanbul, Turkey, 10Department of
Medical Genetics, Ghent University Hospital, Ghent, Belgium, 11HNO-Abteilung,
Klinikum Dortmund, Dortmund, Germany, 12Otorhinolaryngology, Radboud
University Nijmegen Medical Center, Nijmegen, The Netherlands, 13Institute
for Genetics, University of Cologne, Cologne, Germany.
C74. Further evidence and functional proof of the
pathogenic relevance of TBX1 missense mutations
A. Rauch1, C. Zweier1, C.
Campbell2, H. Sticht3;
1Institute of Human Genetics, Friedrich-Alexander University of
Erlangen-Nuremberg, Erlangen, Germany, 2Department of Biochemistry,
University at Buffalo, NY, United States, 3Department of
Bioinformatics of the Institute of Biochemistry, Friedrich-Alexander University
of Erlangen-Nuremberg, Erlangen, Germany.
C75. Branching and nucleokinesis defects in migrating
interneurons derived from doublecortin knockout mice
C. Kappeler1, Y. Saillour1, J.
Baudouin2, F. Phan Dinh Tuy1, C. Alvarez2, C.
Houbron3, P. Gaspar2, G. Hamard3, J. Chelly1,
C. Metin2, F. Francis1;
1INSERM U567, Institut Cochin, Paris, France, 2INSERM
U616, Paris, France, 3Homologous recombination laboratory, Institut Cochin, Paris, France.