title: A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.
abstract: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by hyperkeratosis of the skin over the palms and soles. Mutations in keratin 9 gene (KRT9) have been demonstrated in EPPK. In this study, we screened a Japanese family with EPPK for KRT9 mutation by polymerase chain reaction amplification of genomic sequences, followed by heteroduplex analysis and direct nucleotide sequencing. The mutation consisted of a G-to-C transversion at codon 162 in exon 1, which was located in the hot spot of the mutations that have been reported previously (R162Q and R162W). However, the amino acid substitution was proline for arginine (R162P) in the 1A rod domain, the highly conserved helix initiation motif of keratin 9. Our result illustrates the repertoire of KRT9 mutation underlying the occurrence of EPPK in a Japanese family and is an important contribution to the investigation of the genotype/phenotype correlation.
authors.affiliation: Department of Biochemistry, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori, 036-8562, Japan. yumapon@cc.hirosaki-u.ac.jp
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kon
authors.forename: Kae
authors.initials: K
authors.lastname: Itagaki
authors.forename: Kozo
authors.initials: K
authors.lastname: Yoneda
authors.forename: Keiichi
authors.initials: K
authors.lastname: Takagaki
mesh_terms: D001120:Arginine; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011392:Proline
chemical_list: D007633:Keratins; D001120:Arginine; D011392:Proline