Exploring the molecular basis of Bardet-Biedl syndrome.


Journal Article (Review)

Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give rise to this constellation of clinical findings. During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome.

Full Text

Cited Authors

  • Katsanis, N; Lupski, JR; Beales, PL

Published Date

  • October 1, 2001

Published In

Volume / Issue

  • 10 / 20

Start / End Page

  • 2293 - 2299

PubMed ID

  • 11673413

Pubmed Central ID

  • 11673413

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/10.20.2293


  • eng

Conference Location

  • England