title: A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.
abstract: We described a 5-year-old Japanese girl with epidermolytic palmoplantar keratoderma and examined her for a keratin 9 gene mutation. Physical examination disclosed diffuse yellowish hyperkeratosis with an erythematous border limited strictly to the palms and soles. Histological examination revealed hyperkeratosis with vacuolar degeneration in the spinous and granular layers of the epidermis. Sequence analysis demonstrated an A to G transition at the middle position of codon 160 in the 1A domain of the keratin 9 gene. The amino acid at codon 160 was deduced to have changed from asparagine (Asn) to serine (Ser). This is the first case with an Asn160Ser mutation in a Japanese. The substitution of Ser for Asn at codon 160 of the keratin 9 gene is assumed to be fatal for keratin filament assembly regardless of race or ethnicity.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Tsunemi
authors.forename: Naoko
authors.initials: N
authors.lastname: Hattori
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Saeki
authors.forename: Makoto
authors.initials: M
authors.lastname: Adachi
authors.forename: Mayumi
authors.initials: M
authors.lastname: Komine
authors.forename: Hidemi
authors.initials: H
authors.lastname: Nakagawa
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Tamaki
mesh_terms: D044466:Asian People / Q000235:genetics*; D001707:Biopsy, Needle; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007564:Japan; D007633:Keratins / Q000235:genetics*; D015776:Keratoderma, Palmoplantar, Diffuse / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007633:Keratins