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- Title
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
- Authors
Stoetzel, Corinne; Laurier, Virginie; Faivre, Laurence; Mégarbané, André; Perrin-Schmitt, Fabienne; Verloes, Alain; Bonneau, Dominique; Mandel, Jean-Louis; Cossee, Mireille; Dollfus, Hélène
- Abstract
BBS8 is one of the eight genes identified to date for Bardet–Biedl syndrome (BBS)—an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disorder. To date, only three families mutated in the BBS8 gene have been reported. Here, we report on three additional families with BBS8 mutations from a series of 128 BBS families. Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions.
- Subjects
NUTRITION; RETINITIS pigmentosa; OBESITY; HEREDITY; RETINAL degeneration; NUTRITION disorders
- Publication
Journal of Human Genetics, 2006, Vol 51, Issue 1, p81
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-005-0320-2