Document Detail


COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
MedLine Citation:
PMID:  18160688     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown.
METHODS: We characterized the renal and extrarenal phenotypes of subjects from three families who had an autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC), which we propose is a syndrome. Linkage studies involving microsatellite markers flanking the COL4A1-COL4A2 locus were performed, followed by sequence analysis of COL4A1 complementary DNA extracted from skin-fibroblast specimens from the subjects.
RESULTS: We identified three closely located glycine mutations in exons 24 and 25 of the gene COL4A1, which encodes procollagen type IV alpha1. The clinical renal manifestations of the HANAC syndrome in these families include hematuria and bilateral, large cysts. Histologic analysis revealed complex basement-membrane defects in kidney and skin. The systemic angiopathy of the HANAC syndrome appears to affect both small vessels and large arteries.
CONCLUSIONS: COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps.
Authors:
Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Yves Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The New England journal of medicine     Volume:  357     ISSN:  1533-4406     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-27     Completed Date:  2008-01-04     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2687-95     Citation Subset:  AIM; IM    
Copyright Information:
Copyright 2007 Massachusetts Medical Society.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Basement Membrane / pathology
Collagen Type IV / genetics*
Female
Genetic Diseases, Inborn / genetics
Hematuria / genetics
Humans
Intracranial Aneurysm / genetics*
Kidney Diseases, Cystic / genetics*,  pathology
Male
Muscle Cramp / genetics*
Mutation
Pedigree
Phenotype
Syndrome
Vascular Diseases / genetics*
Grant Support
ID/Acronym/Agency:
G0601268//Medical Research Council; //Wellcome Trust
Chemical
Reg. No./Substance:
0/Collagen Type IV

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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