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


CONCLUSIONS
The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.
Zhang
Guo-long
GL
Department of Dermatology, Wuxi People's Hospital, Wuxi, Jiangsu, 214023 PR China. zglamu@163.com
Sun
Yi-tao
YT
Shi
He-jian
HJ
Gu
Yong
Y
Shao
Min-hua
MH
Du
Xu-feng
XF
D044466:Asian People / Q000235:genetics*; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases