Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease.
BACKGROUND
Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited dermatosis, characterized by persistent blisters and erosions of the skin. It was recently discovered that HHD was caused by mutations in the ATP2C1 gene, a Ca2+ pump located in the Golgi apparatus.


METHODS
In this study, we sequenced the ATP2C1 gene from blood samples of 31 patients in 17 unrelated Chinese families and 120 healthy individuals. Eight novel mutations were identified in 9 families, including 3 insertion/deletions (nt 1464-1487/1462-1485 del, 1523 del AT, 2375 del TTGT), 3 splicing-site mutations [360(-2)a-->g, 1415(-2)a-->c, 2243(+2)t-->c], and 2 missense mutations (P307L, D648Y).


CONCLUSIONS
Eight mutations were found in 8 unrelated families and 1 sporadic case, and these new findings have further improved our understanding of the role of ATP2C1 in HHD.
Zhang
Furen
F
Shandong Provincial Institute of Dermatovenereology, Jinan, China. Zhangfuren@hotmail.com
Yan
Xiaoxiao
X
Jiang
Deke
D
Tian
Hongqing
H
Wang
Changyuan
C
Yu
Long
L
D044466:Asian People; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction
D004247:DNA; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases