Document Detail

Inherited cerebrorenal syndromes.
MedLine Citation:
PMID:  19701229     Owner:  NLM     Status:  MEDLINE    
Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene, which encodes a phosphatase involved in endosomal trafficking. Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert syndrome have cerebellar ataxia, pigmentary retinopathy, and nephronophthisis. Joubert syndrome is a genetically heterogeneous condition associated with mutations in at least five genes that encode ciliary proteins. Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss, obesity, polydactyly, hypogonadism, and cystic and fibrotic renal changes that can lead to renal failure. Most of the 12 genes mutated in Bardet-Biedl syndrome are also involved in ciliary function, as are the genes implicated in other 'ciliopathies' with similar phenotypes, including Meckel syndrome.
Scott J Schurman; Steven J Scheinman
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Nature reviews. Nephrology     Volume:  5     ISSN:  1759-507X     ISO Abbreviation:  Nat Rev Nephrol     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-24     Completed Date:  2009-11-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101500081     Medline TA:  Nat Rev Nephrol     Country:  England    
Other Details:
Languages:  eng     Pagination:  529-38     Citation Subset:  IM    
Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
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MeSH Terms
Bardet-Biedl Syndrome / genetics*,  pathology*
Kidney / abnormalities*
Oculocerebrorenal Syndrome / genetics*,  pathology*

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