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.
Observation: 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).
Conclusion: 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.
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