A NOVEL KERATIN K5 GENE MUTATION IN DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX

We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Me ara epidermolysis bullosa simplex patient with severe generalized blis tering and erosions at birth. The patient had a C to T transition at t he first position of codon 174 in the keratin K5 gene, which resulted in a Leu-->Phe substitution at the highly conserved 1A domain in kerat in K5. Thus, our results revealed a novel mutation in the helix initia tion peptide of keratin K5.