title: A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease.
abstract: Darier's disease (DD) 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 DD. We report here a three-generation family with DD, and examined ATP2A2 gene mutations in this family by direct sequencing. A novel missense mutation A-->G was identified in exon 12, nucleotide 1704, which leads to the substitution of lysine by arginine at codon 514 (K514R). This study contributes to the database on ATP2A2 in DD, and further illustrates the extensive diversity of mutational events that lead to the different phenotypes of DD.
authors.affiliation: Institute of Dermatology, and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, PR China.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.forename: Hong-Sheng
authors.initials: HS
authors.lastname: Liu
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Wang
authors.forename: Ping-Ping
authors.initials: PP
authors.lastname: He
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Jiang-Bo
authors.initials: JB
authors.lastname: Liu
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.forename: Zai-Xing
authors.initials: ZX
authors.lastname: Wang
authors.forename: Yi-Yuan
authors.initials: YY
authors.lastname: Zhu
authors.forename: Da
authors.initials: D
authors.lastname: Lin
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000225:Adenine; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D007644:Darier Disease / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; D012867:Skin / Q000473:pathology
chemical_list: D006147:Guanine; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases; D000225:Adenine