[Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

PubMedID: 20677148

Zhang GL, Sun YT, Shi HJ, Gu Y, Shao MH, Du XF. [Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27(4):414-6.
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.