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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease
Human Genetics, Volume 127, No. 5, Year 2010
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Description
Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations. © 2010 Springer-Verlag.
Authors & Co-Authors
Muller, Jean Denis
France, Strasbourg
Hopital Civil
France, Strasbourg
Université de Strasbourg
Stoetzel, Corinne
France, Strasbourg
Université de Strasbourg
Vincent, Marie Claire
France, Strasbourg
Hopital Civil
Leitch, C. C.
United States, Baltimore
Johns Hopkins Medicine
Laurier, Virginie
France, Strasbourg
Université de Strasbourg
Danse, Jean Marc
France, Strasbourg
Université de Strasbourg
Hellé, S.
France, Strasbourg
Université de Strasbourg
Marion, V.
France, Strasbourg
Université de Strasbourg
Bennouna-Greene, V.
France, Strasbourg
Université de Strasbourg
Vicaire, Serge
France, Strasbourg
Université de Strasbourg
Megarbane, Andre
Lebanon, Beirut
Faculté de Médecine
Kaplan, Josseline C.
France, Paris
Hôpital Necker Enfants Malades
Drouin-Garraud, Valérie
France, Rouen
Hopital Charles Nicolle
Hamdani, Mohamed
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Sigaudy, Sabine
France, Marseille
Hopital la Timone
Francannet, Christine
France, Clermont-ferrand
Centre Hospitalier Universitaire de Clermont-ferrand
Roume, Joëlle
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Bitoun, P.
France, Bondy
Hopital Jean-verdier
Goldenberg, Alice
France, Rouen
Hopital Charles Nicolle
Philip, Nicole
France, Marseille
Hopital la Timone
Odent, Sylvie
France, Rennes
Hopital Sud Chu Rennes
Green, Jane S.
Canada, St John's
Memorial University of Newfoundland
Cossée, M.
France, Strasbourg
Hopital Civil
Davis, Erica E.
United States, Baltimore
Johns Hopkins Medicine
United States, Durham
Duke University Medical Center
Katsanis, Nicholas
United States, Baltimore
Johns Hopkins Medicine
United States, Durham
Duke University Medical Center
Bonneau, Dominique
France, Angers
Chu Angers
Verloès, Alain
France, Paris
Hôpital Robert-debré Ap-hp
Poch, Olivier
France, Strasbourg
Université de Strasbourg
Mandel, Jean Louis
France, Strasbourg
Hopital Civil
France, Strasbourg
Université de Strasbourg
France, Paris
Collège de France
Dollfus, Hélène J.
France, Strasbourg
Université de Strasbourg
Statistics
Citations: 123
Authors: 30
Affiliations: 17
Identifiers
Doi:
10.1007/s00439-010-0804-9
ISSN:
03406717
e-ISSN:
14321203
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study