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Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population

Kejia Xu, Bingjun Shi, Qingchun Diao, Xue Jiang, Yujuan Xiao

(Department of Dermatology, Chongqing Hospital of Traditional Chinese Medicine (The First People’s Hospital of Chongqing City), Chongqing, China (mainland))

Med Sci Monit Basic Res 2017; 23:352-361

DOI: 10.12659/MSMBR.906137


BACKGROUND: Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. The aim of this study was to identify variations in HHD and summarize the features of the mutations identified in China.
MATERIAL AND METHODS: We examined 2 familial and 2 sporadic cases of HHD. Genomic DNA polymerase chain reaction and direct sequencing of the ATP2C1 were performed from HHD patients, unaffected family members, and 200 healthy individuals. We also searched the published literature for data about the ATP2C1 gene using PubMed and the Chinese Biological Medicine Database.
RESULTS: We detected 3 heterozygous mutations, including 2 novel frameshift mutations (c.819insA (273LfsX) and c.1264insTAGATGG (421LfsX)) and 1 recurrent nonsense mutation (c.115C>T (R39X)). To the best of our knowledge, 90 different mutations (including our current results) have been reported in China, all of which occurred in the Chinese Han population.
CONCLUSIONS: Our data may add to the existing list of ATP2C1 mutations and provide new insight into genetic variants of HHD in China.

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
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