title: [Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease].
abstract: OBJECTIVE
  To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.
  
  
  METHODS
  All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.
  
  
  RESULTS
  We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.
  
  
  CONCLUSIONS
  The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.
authors.affiliation: Department of Dermatology, Wuxi People's Hospital, Wuxi, Jiangsu, 214023 PR China. zglamu@163.com
authors.forename: Guo-long
authors.initials: GL
authors.lastname: Zhang
authors.forename: Yi-tao
authors.initials: YT
authors.lastname: Sun
authors.forename: He-jian
authors.initials: HJ
authors.lastname: Shi
authors.forename: Yong
authors.initials: Y
authors.lastname: Gu
authors.forename: Min-hua
authors.initials: MH
authors.lastname: Shao
authors.forename: Xu-feng
authors.initials: XF
authors.lastname: Du
mesh_terms: D044466:Asian People / Q000235:genetics*; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases