title: Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.
abstract: We describe a 19-year-old Japanese male with Köbner-type epidermolysis bullosa simplex (EBS-KB) with a novel keratin gene mutation. The patient developed blisters on the feet, palms, elbows and knees soon after birth. His father is similarly affected with blistering, but his mother and younger brother are not affected. Histological examination revealed that the primary separation in the blister occurred within the basal cell layer. Sequence analysis demonstrated an A-to-T transition at the second position of codon 158 in the keratin 5 (K5) gene. The amino acid at codon 158 was deduced to have changed from asparagine to valine. We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS-KB. This is the first gene mutation report of EBS-KB in the H1 domain of the K5 gene.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-8655, Japan. saeki-der@h.u-tokyo.ac.jp
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Saeki
authors.forename: Kensuke
authors.initials: K
authors.lastname: Nakamura
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Tsunemi
authors.forename: Mayumi
authors.initials: M
authors.lastname: Komine
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Tamaki
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5