title: Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease.
abstract: BACKGROUND
  Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited dermatosis, characterized by persistent blisters and erosions of the skin. It was recently discovered that HHD was caused by mutations in the ATP2C1 gene, a Ca2+ pump located in the Golgi apparatus.
  
  
  METHODS
  In this study, we sequenced the ATP2C1 gene from blood samples of 31 patients in 17 unrelated Chinese families and 120 healthy individuals. Eight novel mutations were identified in 9 families, including 3 insertion/deletions (nt 1464-1487/1462-1485 del, 1523 del AT, 2375 del TTGT), 3 splicing-site mutations [360(-2)a-->g, 1415(-2)a-->c, 2243(+2)t-->c], and 2 missense mutations (P307L, D648Y).
  
  
  CONCLUSIONS
  Eight mutations were found in 8 unrelated families and 1 sporadic case, and these new findings have further improved our understanding of the role of ATP2C1 in HHD.
authors.affiliation: Shandong Provincial Institute of Dermatovenereology, Jinan, China. Zhangfuren@hotmail.com
authors.forename: Furen
authors.initials: F
authors.lastname: Zhang
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Yan
authors.forename: Deke
authors.initials: D
authors.lastname: Jiang
authors.forename: Hongqing
authors.initials: H
authors.lastname: Tian
authors.forename: Changyuan
authors.initials: C
authors.lastname: Wang
authors.forename: Long
authors.initials: L
authors.lastname: Yu
mesh_terms: D044466:Asian People; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases