Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease.
BACKGROUND
Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump.


OBJECTIVE
To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD.


METHODS
In total, five familial and two sporadic cases of HHD were retrieved from the medical records. The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analysed by direct sequencing.


RESULTS
We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one mis-sense mutation (A730T) and one splicing mutation (483 + 2T-->A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations.


CONCLUSIONS
These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.
Chao
Sheau-Chiou
SC
Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, 138 Sheng-Li Road, 704 Tainan, Taiwan. joly@mail.ncku.edu.tw
Tsai
Y-M
YM
Yang
M-H
MH
D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods
D018389:Codon, Nonsense; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases