Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Audrey Putoux & Tania Attie-Bitach & Jéléna Martinovic & Marie-Claire Gubler
- چاپ و سال / کشور: 2011
Description
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.
Pediatr Nephrol DOI 10.1007/s00467-010-1751-3 Received: 14 August 2010 / Revised: 26 November 2010 / Accepted: 30 November 2010
