title: Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier disease.
abstract: Darier disease (DD) is a rare autosomal dominant skin disorder with characteristic abnormal keratinization and acantholysis. The causative gene, ATP2A2, is located on chromosome 12, and encodes a sarco/endoplasmic reticulum calcium pump ATPase (SERCA2). Two Chinese patients with sporadic DD participated in this study. Genomic sequence analysis identified two novel missense mutations (c.742C>A and c.2098A>G) in the ATP2A2 gene. Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype-phenotype correlations.
authors.affiliation: Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Liang
authors.forename: Q G
authors.initials: QG
authors.lastname: Zhang
authors.forename: Q X
authors.initials: QX
authors.lastname: Liu
mesh_terms: D000328:Adult; D007644:Darier Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human