T S Cheng1, K M Ho, C W Lam. 1. Social Hygiene Service, Centre for Health Protection, Department of Health, Hong Kong, China. gtscheng@gmail.com
Abstract
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). CONCLUSION: 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.
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). CONCLUSION: 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.
Authors: J Sawicka; A Kutkowska-Kaźmierczak; K Woźniak; A Tysarowski; K Osipowicz; J Poznański; A M Rygiel; N Braun-Walicka; K Niepokój; J Bal; C Kowalewski; K Wertheim-Tysarowska Journal: J Appl Genet Date: 2020-01-25 Impact factor: 3.240