Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease.
BACKGROUND
Familial benign chronic pemphigus or Hailey-Hailey disease (HHD; OMIM 169600) is an autosomal dominant blistering disease. Pathogenic mutations in ATP2C1 encoding a novel Ca2+ pump have recently been identified.


OBJECTIVE
To identify mutations in ATP2C1 in Chinese patients with HHD.


METHODS
Eleven unrelated Chinese patients with HHD were subjected to mutation detection in ATP2C1. Eight of them had a family history of HHD. The 27 coding exons and their flanking sequences were amplified and sequenced.


RESULTS
Five of the 11 patients were identified to have heterozygous mutations including three nonsense mutations and two splicing mutations in ATP2C1.


CONCLUSIONS
Four novel mutations, nonsense mutations S887X and W795X and splicing mutations 118-1 g-->a and 1890+1del(gtgag)ins53, were found in this series of Chinese patients with HHD.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D016133:Polymerase Chain Reaction
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases