title: A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.
abstract: Epidermolysis bullosa simplex (EBS) is caused by an aberration of the keratin intermediate filaments and recent studies indicated causal mutations in the keratin K14 and K5 genes. In this study, we examined keratin K14/5 gene mutation in a Japanese patient with EBS Dowling-Meara (EBSDM). The patient had a C to T transition at the first position of codon 125, which resulted in Arg-->Cys at the N-terminus of the rod domain in the keratin K14 gene. The mutation position described here was identical to those reported in some other EBSDM patients. Our result revealed mutation in the peptide initiating helical structure of keratin K14 and, together with the results of other workers, suggests that the mutation in the keratin K14 gene of EBSDM sufferers occurs in virtually every ethnic group and geographical area.
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Umeki
authors.forename: K
authors.initials: K
authors.lastname: Nomura
authors.forename: K
authors.initials: K
authors.lastname: Harada
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D015335:Molecular Probes; D007633:Keratins