BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

J Hum Genet. 2006;51(1):81-84. doi: 10.1007/s10038-005-0320-2.

Corinne Stoetzel ¹, Virginie Laurier ¹, Laurence Faivre ², André Mégarbané ³, Fabienne Perrin-Schmitt ¹, Alain Verloes ⁴, Dominique Bonneau ⁵, Jean-Louis Mandel ⁶, Mireille Cossee ⁷, Hélène Dollfus ⁸

Affiliations

1 EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
2 Service de Génétique, CHU de Dijon, Dijon, France.
3 Laboratoire de Génétique, Université Saint Joseph, Beirut, Lebanon.
4 Département de Génétique, Hôpital Robert Debré, Paris, France.
5 Service de Génétique, CHU Angers, Angers, France.
6 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France, Illkirch, C.U. de Strasbourg, France.
7 Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
8 EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France. [email protected].

PMID: 16308660 DOI: 10.1007/s10038-005-0320-2

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.

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