Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.
Darier's disease (DD, MIM 124200) is an autosomal dominant inherited disease. It is usually present in teenagers or adults with multiple keratotic papules or plaques in seborrheic areas. Pathogenic mutations in the ATP2A2 gene have been identified. It encodes the sarcoplasmic or endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). Polymerase chain reaction and direct sequencing of the full coding sequence of ATP2A2 gene were performed to identify the mutation in this family. In this report, we identified a novel mutation of ATP2A2 gene in a Chinese family with DD. It is a novel heterozygous nucleotide G --> T transition at position 2,282 in exon 15 of the ATP2A2 gene. Our study expands the database on the ATP2A2 gene mutations in DD.
Song
Jun
J
Department of Dermatology, Wuxi No. 4 People's Hospital, The Fourth Affiliated Hospital of Soochow University, Wuxi, 214062, Jiangsu, China.
Li
Ming
M
Yang
Li-Jia
LJ
Zhang
Guo-Long
GL
D000051:Acantholysis / Q000235:genetics; D000328:Adult; D002681:China; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; 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