Document Detail

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
MedLine Citation:
PMID:  7883979     Owner:  NLM     Status:  MEDLINE    
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII collagen. Ultrastructural observations of altered anchoring fibrils and genetic linkage to the type VII collagen locus (COL7A1) have implicated COL7A1 as the candidate gene in the dystrophic forms of EB. We have recently cloned the entire cDNA and the gene for human COL7A1. In this study, we describe distinct mutations in both COL7A1 alleles in three brothers with severe, mutilating recessive dystrophic EB (the Hallopeau-Siemens type, HS-RDEB). The patients are compound heterozygotes for two different mutations, both of which result in a premature termination codon in COL7A1, and the parents were shown to be clinically heterozygous carries of the respective mutations. Premature termination codons in both alleles of COL7A1 appear to be the underlying cause of severe, recessive dystrophic EB in this family.
A M Christiano; Y Suga; D S Greenspan; H Ogawa; J Uitto
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  95     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-04-13     Completed Date:  1995-04-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1328-34     Citation Subset:  AIM; IM    
Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania 19107.
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MeSH Terms
Base Sequence
Codon, Terminator / genetics*
Collagen / genetics*
Epidermolysis Bullosa Dystrophica / genetics*,  pathology
Exons / genetics
Genes, Recessive / genetics*
Japan / ethnology
Molecular Sequence Data
Nuclear Family
Nucleic Acid Heteroduplexes / genetics
Polymerase Chain Reaction
Grant Support
Reg. No./Substance:
0/Codon, Terminator; 0/Nucleic Acid Heteroduplexes; 9007-34-5/Collagen

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

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