title: [Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease].
abstract: OBJECTIVE
  To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.
  
  
  METHODS
  Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.
  
  
  RESULTS
  A missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.
  
  
  CONCLUSIONS
  Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.
authors: Department of Dermatology, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, China; Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, Jiangsu 214023, China; Department of Phototherapy, Shanghai Skin Disease Hospital, Shanghai 200443, China. Email: zglamu@163.com.
authors: Xiaoyan
authors: X
authors: Zhao
authors: Yong
authors: Y
authors: Gu
authors: Xufeng
authors: X
authors: Du
authors: Minhua
authors: M
authors: Shao
authors: Hao
authors: H
authors: Luo
authors: Lude
authors: L
authors: Zhu
authors: Qian
authors: Q
authors: Zhou
authors: Guolong
authors: G
authors: Zhang
mesh_terms: D000368:Aged; D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human