title: Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.
abstract: Epidermolytic palmoplantar keratoderma (EPPK) is a localized keratinization disorder caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We present a Hispanic pedigree spanning three generations, with affected individuals in all generations. Using polymerase chain reaction amplification and direct sequencing we demonstrated a previously reported missense mutation in KRT9, which is expressed almost exclusively in the skin of palms and soles. The C-->T missense mutation R162W changes a basic amino acid (arginine) to a neutral amino acid (tryptophan). We describe this mutation in a Hispanic pedigree with EPPK for the first time, extending the finding of this mutation in other genetic backgrounds, and demonstrating the prevalence of this mutation in diverse populations.
authors.affiliation: Departments of Dermatology and Genetics & Development, Columbia University, New York 10032, USA.
authors.forename: I
authors.initials: I
authors.lastname: Warmuth
authors.forename: P B
authors.initials: PB
authors.lastname: Cserhalmi-Friedman
authors.forename: P
authors.initials: P
authors.lastname: Schneiderman
authors.forename: M E
authors.initials: ME
authors.lastname: Grossman
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D005260:Female; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000208:ethnology / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D007633:Keratins