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Pediatr Nephrol. 2007 Jul;22(7):926-36. Epub 2007 Mar 15.

Bardet-Biedl syndrome: beyond the cilium.

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1
Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

Abstract

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.

PMID:
17357787
DOI:
10.1007/s00467-007-0435-0
[Indexed for MEDLINE]
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