title: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
abstract: We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome 17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal dominant skin disease, were investigated. Three KRT9 mutations, N160K, R162Q, and R162W, were identified. All the mutations are in the highly conserved coil 1A of the rod domain, thought to be important for heterodimerisation. R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively. These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene.
authors.affiliation: Institute of Human Genetics, Free University, Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: H C
authors.initials: HC
authors.lastname: Hennies
authors.forename: L
authors.initials: L
authors.lastname: Langbein
authors.forename: M
authors.initials: M
authors.lastname: Digweed
authors.forename: D
authors.initials: D
authors.lastname: Mischke
authors.forename: M
authors.initials: M
authors.lastname: Drechsler
authors.forename: E
authors.initials: E
authors.lastname: Schröck
authors.forename: B
authors.initials: B
authors.lastname: Royer-Pokora
authors.forename: W W
authors.initials: WW
authors.lastname: Franke
authors.forename: K
authors.initials: K
authors.lastname: Sperling
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D004276:DNA, Satellite / Q000032:analysis*; D005260:Female; D006239:Haplotypes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D015183:Restriction Mapping
chemical_list: D004276:DNA, Satellite; D007633:Keratins