title: [Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
abstract: OBJECTIVE
  To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.
  
  
  METHODS
  All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.
  
  
  RESULTS
  We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.
  
  
  CONCLUSIONS
  The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Disease, Ministry of Education and Anhui Province, Hefei 230032, China.
authors.forename: Zheng-Zhong
authors.initials: ZZ
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Qiao-Yun
authors.initials: QY
authors.lastname: Fang
authors.forename: Yu-Jun
authors.initials: YJ
authors.lastname: Shen
authors.forename: Wen-Hui
authors.initials: WH
authors.lastname: Du
authors.forename: Wei-Chi
authors.initials: WC
authors.lastname: Sui
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*
chemical_list: C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases