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. Epub 2005 Nov 25.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bardet-Biedl Syndrome / genetics*
  • Cohort Studies
  • Cytoskeletal Proteins
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Proteins / genetics*

Substances

  • Cytoskeletal Proteins
  • Proteins
  • TTC8 protein, human