Document Detail

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
MedLine Citation:
PMID:  9375848     Owner:  NLM     Status:  MEDLINE    
Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level of tissue separation. In the dystrophic forms of EB (DEB), tissue separation occurs below the lamina densa within the upper papillary dermis at the level of anchoring fibrils, which are frequently altered in morphology, reduced in number, or entirely absent. Since type VII collagen is the major component of anchoring fibrils, the corresponding gene, COL7A1, was proposed as the candidate for DEB. Subsequent cloning of COL7A1 and elucidation of its genomic structure have led to identification of 53 distinct mutations in COL7A1 reported thus far. These mutations consist of nonsense mutations, small insertions or deletions resulting in frameshift and premature termination codons, splice site mutations, or missense mutations, particularly glycine substitutions within the collagenous domain of the protein. The types and combinations of these mutations and their positions along the type VII collagen molecule result in a spectrum of phenotypic severity and determine the mode of inheritance. Thus, examination of the mutation database has allowed genotype/phenotype predictions, with an impact on genetic counseling in this group of genodermatoses.
A Järvikallio; L Pulkkinen; 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:  Human mutation     Volume:  10     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1997  
Date Detail:
Created Date:  1997-12-09     Completed Date:  1997-12-09     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  338-47     Citation Subset:  IM    
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
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MeSH Terms
Collagen / genetics*
Epidermolysis Bullosa Dystrophica / genetics*
Grant Support
Reg. No./Substance:

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