Phenotypic Variability of Bardet-Biedl Syndrome: Focusing on the Kidney

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2011 Jan 20

PMID 21246219

Citations 36

Authors

Audrey Putoux

Tania Attie-Bitach

Jelena Martinovic

Marie-Claire Gubler

Affiliations

Soon will be listed here.

Abstract

Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology. Pleiotropy of ciliopathy phenotypes and complex genetic interactions between causal and modifying alleles of ciliary genes contribute to phenotypic variability. In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS.

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