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Four novel mutations in ATP2C1 found in Chinese patients with Hailey–Hailey disease
Author(s) -
Li H.,
Sun X.K.,
Zhu X.J.
Publication year - 2003
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2003.05495.x
Subject(s) - hailey–hailey disease , nonsense mutation , genetics , exon , nonsense , coding region , mutation , biology , gene , rna splicing , frameshift mutation , mutation testing , compound heterozygosity , medicine , disease , missense mutation , pathology , rna
Summary 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 Ca 2+ pump have recently been identified. Objectives 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.