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.
基金：
National Natural Science Foundation of China [31171228, 81371728]
第一作者单位：[1]Huazhong Univ Sci & Technol, Dept Dermatol, Tongji Hosp, Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Li Hongwen,Chen Lan,Mei Aihua,et al.Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease[J].JOURNAL OF DERMATOLOGY.2016,43(10):1197-1200.doi:10.1111/1346-8138.13407.
APA：
Li, Hongwen,Chen, Lan,Mei, Aihua,Chen, Luzhu,Xu, Yaqin...&Deng, Yunhua.(2016).Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease.JOURNAL OF DERMATOLOGY,43,(10)
MLA：
Li, Hongwen,et al."Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease".JOURNAL OF DERMATOLOGY 43..10(2016):1197-1200
