Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.

Conference Paper

Recent discoveries have lead to the hypothesis that ciliary dysfunction is a mechanism underlying the pathogenesis of Bardet-Biedl syndrome (BBS). Here, we describe two individuals with decreased olfaction who are members of an extended family affected with BBS caused by a homozygous deletion (c.77-220del) in the BBS4 gene. These findings correlate with the evidence that several BBS proteins, including BBS4, are expressed in the olfactory epithelium (OE). Although the prevalence and the spectrum of impaired olfaction in BBS are not known, the causal relationship of the BBS4 deletion in this family and the decreased olfaction is corroborated by evidence that Bbs2 and Bbs4 knockout mice have severe olfaction deficits and that also patients with BBS caused by mutations in other BBS genes can have impaired olfaction. This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis.

Full Text

Duke Authors

Cited Authors

  • Iannaccone, A; Mykytyn, K; Persico, AM; Searby, CC; Baldi, A; Jablonski, MM; Sheffield, VC

Published Date

  • February 1, 2005

Published In

Volume / Issue

  • 132A / 4

Start / End Page

  • 343 - 346

PubMed ID

  • 15654695

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.30512

Conference Location

  • United States