Novel mutations of the ATP2A2 gene in two families with Darier's disease.
Darier's disease (DD) is an autosomal dominant genodermatology. Mutations in the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium pumping ATPase type 2 (SERCA2) have been identified as the molecular basis of DD. The aim of this study was to report two Chinese pedigree of DD and to explore the genetic mutations. Polymerase chain reaction was carried out to amplify the exons and flanking intron boundaries of the ATP2A2 gene followed by direct sequencing. Two novel missense mutations were identified, a change of C203 to A (A68E) in exon 3 was found in one family and a change of C2759 to T (S920F) in exon 19 in the other, which were located within the transmembrane domain of SERCA2, highly conserved during evolution. The A68E and S920F mutations might be regarded as the causes of the disease in two Chinese families, but these were not tested functionally. Additional functional experiments are necessary to verify the relevance and suitability of these findings for future use in genetic counseling and prenatal diagnosis.
Shi
Bing-Jun
BJ
Department of Dermatology, Second Hospital of Xi'an Jiaotong University, 157 Xi Wu Road, 710004, Xi'an, Shaanxi, People's Republic of China.
Feng
Jie
J
Ma
Cui-Cui
CC
Yan
Xiao-Ning
XN
Li
Wen-Bin
WB
Wei
Yu-Ping
YP
Hu
Gang
G
Wang
Xiang-Lan
XL
D000051:Acantholysis; D000328:Adult; D002681:China; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics* / Q000378:metabolism
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human