Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.
BACKGROUND
Hailey-Hailey disease (HHD) is a rare autosomal dominant dermatosis. It causes suprabasilar acantholysis leading to vesicular and crusted erosions affecting the flexures. Mutation of ATP2C1 gene encoding the human secretory pathway Ca(2+) /Mn(2+) -ATPase (hSPCA1) was identified to be the cause of this entity.


OBJECTIVE
The aim of this study was to study the mutational profile of the ATP2C1 gene in Hong Kong Chinese patients with HHD.


METHODS
Patients with the clinical diagnosis of HHD proven by skin biopsy were included in this study. Mutation analysis was performed in 17 Hong Kong Chinese patients with HHD.


RESULTS
Ten mutations in the ATP2C1 gene were found. Six of these were novel mutations. The novel mutations included a donor splice site mutation (IVS22+1G>A); a missense mutation (c.1049A>T); two deletion mutations (c.185_188delAGTT and c.923_925delAAG); an acceptor splice site mutation (IVS21-1G>C) and an insertion mutation (c.2454dupT).


CONCLUSIONS
The six novel mutations provide additions to the HHD mutation database. No hot-spot mutation was found and high allelic heterogeneity was demonstrated in the Hong Kong Chinese patients.
Social Hygiene Service, Centre for Health Protection, Department of Health, Hong Kong, China. gtscheng@gmail.com
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Lam
D001706:Biopsy; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002681:China / Q000208:ethnology; D005260:Female; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D016506:Pemphigus, Benign Familial / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology
C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases