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A Japanese case of de novo dominant dystrophic epidermolysis bullosa
Author(s) -
Matsuba S.,
Suga Y.,
Mayuzumi N.,
Ikeda S.,
Ogawa H.
Publication year - 2002
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.0307-6938.2001.00941.x
Subject(s) - epidermolysis bullosa , mutation , exon , epidermolysis bullosa dystrophica , dermatology , medicine , phenotype , amino acid substitution , genetics , biology , gene
Summary We report a Japanese case of dominant dystrophic epidermolysis bullosa with a de novo mutation in the triple‐helical domain of the type VII collagen. Mutation detection revealed a glycine → aspartic acid substitution at amino acid position 2012 in exon 73 (G2012D). This previously unreported mutation underlies a clinical phenotype of moderately severe, localized skin blistering.