Mutation analysis of ATP2CI gene in Taiwanese patients with Hailey-Hailey disease

Background Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump. Objectives To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. Methods In total. five familial and two sporadic cases of HHD were retrieved from the medical records, The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analysed by direct sequencing. Results We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one missense mutation (A730T) and one splicing mutation (483 + 2T --> A). The non-sense mutation R39X had been reported previously: the other six mutations are novel mutations. Conclusions These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.