title: A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation.
abstract: Darier's disease is an autosomal dominant skin disorder that is characterized by multiple keratotic papules, focal loss of adhesion and abnormal keratinization. Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease. Segmental Darier's disease is a rare type of Darier's disease in which there is characteristic localization of the keratotic papules in a linear pattern following Blaschko's lines. In this study we examined ATP2A2 mutations in a Japanese patient with segmental Darier's disease. The samples from affected skin, unaffected skin and peripheral leucocytes were subjected to polymerase chain reaction (PCR). Direct sequencing of the PCR products was performed. Sequence analysis revealed that the patient had 160A-->G substitution mutation which predicts I54V. This novel mutation was present in the affected skin, but not in the unaffected skin or peripheral leucocytes. This is the first report of segmental Darier's disease caused by mosaicism for an ATP2A2 mutation in Japan.
authors.affiliation: Department of Dermatology, Ehime University School of Medicine, Shitsukawa, Shigenobucho, Onsengun, Ehime 791-0295, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Wada
authors.forename: Y
authors.initials: Y
authors.lastname: Shirakata
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Murakami
authors.forename: H
authors.initials: H
authors.lastname: Iizuka
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009030:Mosaicism; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases