title: A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
abstract: Epidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosiform erythroderma, is characterized by generalized erythroderma, ichthyosiform skin and blistering, and is caused by an aberration of the keratin intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosiform erythroderma at birth and developed subsequent blistering. The patient had a G to A transition at codon 156 of the keratin K10 gene, which resulted in an arginine (Arg)-->histidine (His) substitution in the helix initiation peptide of the highly-conserved 1A domain in keratin K10. This is the first mutation report of a Japanese patient with EHK, although the position and mode of the mutation identified here did not differ from those in reported Western cases.
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nomura
authors.forename: X
authors.initials: X
authors.lastname: Meng
authors.forename: K
authors.initials: K
authors.lastname: Umeki
authors.forename: K
authors.initials: K
authors.lastname: Tamai
authors.forename: D
authors.initials: D
authors.lastname: Sawamura
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D005260:Female; D005796:Genes / Q000235:genetics*; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007564:Japan; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: D009692:Nucleic Acid Heteroduplexes; D007633:Keratins