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

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Stoetzel C,Laurier V,Faivre L,Mégarbané A,Perrin-Schmitt F,Verloes A,Bonneau D,Mandel JL,Cossee M,Dollfus H

doi

10.1007/s10038-005-0320-2

keywords:

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

81-84

issue

1

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-005-0320-2

journal_volume

51

pub_type

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