Open AccessBBS10 mutations are common in ‘Meckel’-type cystic kidneys
Author(s) -
Audrey Putoux,
Soumaya Mougou-Zerelli,
Sophie Thomas,
Nadia Elkhartoufi,
Sophie Audollent,
Martine Le Merrer,
A.M.A. Lachmeijer,
Sabine Sigaudy,
Annie Buénerd,
Conrad V. Fernandez,
AnneLise Delezoide,
Marie-Claire Gübler,
Rémi Salomon,
Alain Saad,
Marcus Cordier,
Michel Vekemans,
Raymonde Bouvier,
Tania AttiéBitach
Publication year - 2010
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmg.2010.079392
Subject(s) - polydactyly , bardet–biedl syndrome , genetics , biology , missense mutation , genetic heterogeneity , nonsense mutation , situs inversus , mutation , gene , anatomy , phenotype
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic disorder characterised by progressive retinal dystrophy, obesity, hypogenitalism, learning difficulties, renal abnormalities and postaxial polydactyly, with only the last two antenatally observable. BBS is inherited as an autosomal recessive disorder, and 14 genes have been identified to date (BBS1-BBS14). In addition, a complex digenic inheritance has been established in some families. Mutations of the BBS10 gene on chromosome 12q21.2 account for 20% of BBS cases.
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