Bardet-Biedl syndrome: beyond the cilium

Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435-0. Epub 2007 Mar 15.


The Bardet-Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive impairment, genito-urinary tract malformations and limb deformities, is beginning to reveal insights into several aspects of mammalian development and organogenesis. Involvement of BBS proteins in disparate pathways such as the non-canonical Wnt and Sonic Hedgehog pathways is highlighting their interplay in disease pathogenesis. Here we review the recent developments in this emerging field, with the emphasis on the renal component of the syndrome and potential future directions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bardet-Biedl Syndrome / genetics
  • Bardet-Biedl Syndrome / metabolism*
  • Child
  • Cilia / metabolism*
  • Cilia / pathology
  • Hedgehog Proteins / genetics
  • Hedgehog Proteins / metabolism
  • Humans
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / metabolism
  • Kidney Diseases, Cystic / pathology
  • Models, Biological
  • Signal Transduction
  • Wnt Proteins / genetics
  • Wnt Proteins / metabolism


  • Hedgehog Proteins
  • SHH protein, human
  • Wnt Proteins