A Japanese case of de novo dominant dystrophic epidermolysis bullosa.
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.
Matsuba
S
S
Department of Dermatology, Juntendo University School of Medicine, Tokyo Japan. matsuba@med.juntendo.ac.jp
Suga
Y
Y
Mayuzumi
N
N
Ikeda
S
S
Ogawa
H
H
D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree; D017354:Point Mutation
D024143:Collagen Type VII