title: A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
abstract: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A-->C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the alpha-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.
authors.affiliation: Department of Dermatology, National Cheng-Kung University Hospital, Tainan, Taiwan.
authors.forename: J-H
authors.initials: JH
authors.lastname: Lin
authors.forename: M-H
authors.initials: MH
authors.lastname: Lin
authors.forename: M-H
authors.initials: MH
authors.lastname: Yang
authors.forename: S-C
authors.initials: SC
authors.lastname: Chao
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D013624:Taiwan
chemical_list: D007633:Keratins