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Four novel ATP 2C1 mutations in Chinese patients with Hailey–Hailey disease
Author(s) -
Li Hongwen,
Chen Lan,
Mei Aihua,
Chen Luzhu,
Xu Yaqin,
Hu Wei,
Dong Yingying,
Zhang Yanhong,
Wang Tingmei,
Liu Dongxian,
Deng Yunhua
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13407
Subject(s) - hailey–hailey disease , genetics , gene , coding region , pedigree chart , biology , nonsense mutation , mutation , dna sequencing , frameshift mutation , missense mutation , disease , medicine , pathology
Hailey–Hailey disease ( HHD ) is a kind of autosomal dominant dermatosis. The ATP 2C1 gene has been identified as the pathogenic gene of HHD since 2000. In this study, direct DNA sequencing was used to identify ATP 2C1 gene mutations in four Chinese families and two sporadic cases with HHD . The entire coding and flanking intronic sequences of ATP 2C1 were screened for mutations and five heterozygous mutations of the ATP 2C1 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 ATP 2C1 mutations associated with HHD .