[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
OBJECTIVE
To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.


METHODS
All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.


RESULTS
We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.


CONCLUSIONS
The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.
Zhang
Zheng-Zhong
ZZ
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Disease, Ministry of Education and Anhui Province, Hefei 230032, China.
Li
Wei
W
Zhou
Fu-Sheng
FS
Gao
Min
M
Xiao
Feng-Li
FL
Fang
Qiao-Yun
QY
Shen
Yu-Jun
YJ
Du
Wen-Hui
WH
Sui
Wei-Chi
WC
Yang
Sen
S
Zhang
Xue-Jun
XJ
D044466:Asian People; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases