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Published on: August 8, 2022
[Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease]
Guo-long Zhang1, Yi-tao Sun, He-jian Shi
1Department of Dermatology, Wuxi People's Hospital, Wuxi, Jiangsu, 214023 PR China. zglamu@163.com
Objective:
To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.
Methods:
All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.
Results:
We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.
Conclusion:
The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.
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