A novel mutation of ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease.

Abstract

Objective To detect the mutation of ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease (HHD). Methods A total of 9 family members from a Chinese three-generation pedigree were investigated. Characteristic manifestations of HHD were noted in 2 of the family members. Blood samples were collected from all family members of this pedigree and 100 unrelated healthy controls. Genomic DNA was extracted from peripheral blood cells and subjected to amplification of 27 exons of ATP2C1 gene fol-lowed by DNA sequencing. Results An unreported missence mutation (M661R) was identified in the 2 family members suffering from HHD, but not in the remaining family members or unrelated controls. Con-clusion A specific novel mutation( M661R) in ATP2C1 gene is identified in a Chinese pedigree with HHD. Key words: Pemphigns;  benign familial;  Mutation;  ATP2C1 gene