Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease
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- 作者：Hongwen Li ; Lan Chen ; Aihua Mei ; Luzhu Chen ; Yaqin Xu ; Wei Hu ; Yingying Dong ; Yanhong Zhang ; Tingmei Wang ; Dongxian Liu and Yunhua Deng
- 刊名：The Journal of Dermatology
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：43
- 期：10
- 页码：1197-1200
- 全文大小：682K
- ISSN：1346-8138
文摘
Hailey–Hailey disease (HHD) is a kind of autosomal dominant dermatosis. The ATP2C1 gene has been identified as the pathogenic gene of HHD since 2000. In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with HHD. The entire coding and flanking intronic sequences of ATP2C1 were screened for mutations and five heterozygous mutations of the ATP2C1 gene were detected in the four pedigrees and two sporadic cases with HHD. Four of them were novel, including three frame-shift mutations (c.1330delC, c.888_889insT, c.478_479insA) and one nonsense mutation (c.1720C>T). These data added new variants to the database of ATP2C1 mutations associated with HHD.