Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease

Sheau-Chiou Chao, Y. M. Tsai, M. H. Yang

研究成果: Article

40 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)595-600
頁數6
期刊British Journal of Dermatology
146
發行號4
DOIs
出版狀態Published - 2002 五月 6

    指紋

All Science Journal Classification (ASJC) codes

  • Dermatology

引用此