Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China.
Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. To date, at least 140 mutations in the ATP2A2 gene have been identified as the genetic basis of DD. Here we reported three familial and two sporadic Chinese DD patients totally with four missense mutations (N767D, M494I, M494L, C318F) and one splice-site mutation (1288-6A-->G) in ATP2A2 gene, and presented a literature review of DD cases reported in China since 1989. Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type. Likewise, the literature review indicates that DD is not uncommon in China and presents more information about genotype-phenotype correlations.
Ren
Yun-Qing
YQ
Institute of Dermatology and Department of Dermatology, No: 1 Hospital, Anhui Medical University, 69 Meishan Road, 230032, Hefei, Anhui, China.
Gao
Min
M
Liang
Yan-Hua
YH
Hou
Yan-Xia
YX
Wang
Pei-Guang
PG
Sun
Liang-Dan
LD
Xu
Sheng-Xin
SX
Li
Wei
W
Du
Wen-Hui
WH
Zhou
Fu-Sheng
FS
Shen
Yu-Jun
YJ
Yang
Sen
S
Zhang
Xue-Jun
XJ
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
D004247:DNA; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human