Genotype and Phenotype Correlation of Dystrophic Epidermolysis Bullosa

概要

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Dystrophic epidermolysis bullosa (DEB) is a heritable mechanobullous skin disease derived frommutations in the type VII collagen gene (COL7A1). DEB cases are divided into dominant dystrophic EB (DDEB)and recessive dystrophic EB (RDEB). Most of the DDEB cases are induced by glycine substitution (GS) mutationbecause of its dominant negative effect, although there are silent GS which are not pathogenic without combinationof other mutation in COL7Al. To know the relations between clinical features and COL7A1 mutations, we examinedCOL7A1 gene mutation in two Japanese families with DEB. one is dominantly inherited and another is sporadic.We identified three mutations; 8068de117ins2 in case L G2395D/152de1G in case 2. Case 1 is DDEB, which does not resultfrom GS but from insertion/deletion mutation. In case 2, GS does not result in DDEB but causes recessive DEB (RDEB)with the combination of premature termination codon (PTC) in non-collagenous amino-terminal region (NC-l). Thisstudy demonstrates novel COL7A1 mutations for DEB and furthers our understanding of genotype-phenotype correlationdisplayed in DEB patients.
2007-11-15