Document Detail

Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
MedLine Citation:
PMID:  16923137     Owner:  NLM     Status:  MEDLINE    
An autosomal dystrophic epidermolysis bullosa (DDEB) is a hereditary mechanobullous disease characterized by blistering of the skin and the mucous membrane. DDEB is caused by a heterozygous mutation in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, and phenotypically classified into several types. We experienced two boys with DDEB and examined the mutation analyses of the COL7A1 genes of the two patients and their fathers to clarify the relationship between the genotypes and phenotypes, that is, the mutation sites of COL7A1 gene and the clinical types of DDEB. The case 1 and 2 patients and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of COL7A1, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively. G2037R found in the case 1 patient was a novel mutation. There was no clear relationship recognized between the two mutation sites in the COL7A1 gene and the clinical variations.
Takako Iwata; Hajime Nakano; Aoi Nakano; Yuka Toyomaki; Katsuto Tamai; Yasushi Tomita
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of dermatology     Volume:  33     ISSN:  0385-2407     ISO Abbreviation:  J. Dermatol.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-08-22     Completed Date:  2006-11-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7600545     Medline TA:  J Dermatol     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  550-6     Citation Subset:  IM    
Department of Dermatology, Nagoya University Graduate School of Medicine, Aichi, Japan.
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MeSH Terms
Asian Continental Ancestry Group
Collagen Type VII / genetics*
DNA Mutational Analysis
DNA Restriction Enzymes
Epidermolysis Bullosa Dystrophica / genetics*
Infant, Newborn
Mutation, Missense
Reg. No./Substance:
0/Collagen Type VII; 56-40-6/Glycine; 74-79-3/Arginine; EC 3.1.21.-/DNA Restriction Enzymes

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