Exploring the molecular basis of Bardet-Biedl syndrome

Elias Nicholas Katsanis*, James R. Lupski, Philip L. Beales

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

130 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2293-2299
Number of pages7
JournalHuman molecular genetics
Issue number20
StatePublished - Oct 1 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


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