A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease.
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.
Yang
Sen
S
Institute of Dermatology, and Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, PR China.
Sun
Liang-Dan
LD
Liu
Hong-Sheng
HS
Wang
Ji-Yun
JY
He
Ping-Ping
PP
Li
Ming
M
Gao
Min
M
Liu
Jiang-Bo
JB
Yang
Jie
J
Wang
Zai-Xing
ZX
Zhu
Yi-Yuan
YY
Lin
Da
D
Zhang
Xue-Jun
XJ
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
D006147:Guanine; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases; D000225:Adenine