title: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
abstract: Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.
authors.affiliation: Institut für Humangenetik, Freie Universität Berlin, Germany.
authors.forename: H C
authors.initials: HC
authors.lastname: Hennies
authors.forename: D
authors.initials: D
authors.lastname: Zehender
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: W
authors.initials: W
authors.lastname: Küster
authors.forename: A
authors.initials: A
authors.lastname: Reis
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017433:Protein Structure, Secondary
chemical_list: D017931:DNA Primers; D007633:Keratins