title: A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.
abstract: Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically. We report herein a novel mutation, a C --> G transversion at nucleotide position 541 that converts a leucine residue (CTC) to a valine (GTC) at codon 159. As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.
authors.affiliation: Department of Dermatology, Chiba University School of Medicine, Chuo-ku, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Endo
authors.forename: A
authors.initials: A
authors.lastname: Hatamochi
authors.forename: H
authors.initials: H
authors.lastname: Shinkai
mesh_terms: D000595:Amino Acid Sequence; D017124:Conserved Sequence; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007564:Japan; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D007930:Leucine / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary
chemical_list: D007633:Keratins; D007930:Leucine