File Download
There are no files associated with this item.
Links for fulltext
(May Require Subscription)
- Publisher Website: 10.1111/j.1468-3083.2010.03623.x
- Scopus: eid_2-s2.0-77955411257
- PMID: 20236194
- WOS: WOS:000281555800013
- Find via
Supplementary
- Citations:
- Appears in Collections:
Article: Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese
Title | Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese |
---|---|
Authors | |
Keywords | ATP2C1 familial benign chronic pemphigus Hailey-Hailey disease mutation analysis |
Issue Date | 2010 |
Publisher | Wiley-Blackwell Publishing Ltd. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0926-9959 |
Citation | Journal Of The European Academy Of Dermatology And Venereology, 2010, v. 24 n. 10, p. 1202-1206 How to Cite? |
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 Ca2+/Mn2+-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. © 2010 European Academy of Dermatology and Venereology. |
Persistent Identifier | http://hdl.handle.net/10722/129496 |
ISSN | 2023 Impact Factor: 8.4 2023 SCImago Journal Rankings: 1.686 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cheng, TS | en_HK |
dc.contributor.author | Ho, KM | en_HK |
dc.contributor.author | Lam, CW | en_HK |
dc.date.accessioned | 2010-12-23T08:38:07Z | - |
dc.date.available | 2010-12-23T08:38:07Z | - |
dc.date.issued | 2010 | en_HK |
dc.identifier.citation | Journal Of The European Academy Of Dermatology And Venereology, 2010, v. 24 n. 10, p. 1202-1206 | en_HK |
dc.identifier.issn | 0926-9959 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/129496 | - |
dc.description.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 Ca2+/Mn2+-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. © 2010 European Academy of Dermatology and Venereology. | en_HK |
dc.language | eng | en_US |
dc.publisher | Wiley-Blackwell Publishing Ltd. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0926-9959 | en_HK |
dc.relation.ispartof | Journal of the European Academy of Dermatology and Venereology | en_HK |
dc.rights | The definitive version is available at www3.interscience.wiley.com | - |
dc.subject | ATP2C1 | en_HK |
dc.subject | familial benign chronic pemphigus | en_HK |
dc.subject | Hailey-Hailey disease | en_HK |
dc.subject | mutation analysis | en_HK |
dc.subject.mesh | Biopsy | - |
dc.subject.mesh | Calcium-Transporting ATPases - genetics | - |
dc.subject.mesh | China - ethnology | - |
dc.subject.mesh | Mutation - genetics | - |
dc.subject.mesh | Pemphigus, Benign Familial - epidemiology - ethnology - genetics | - |
dc.title | Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0926-9959&volume=24&issue=10&spage=1202&epage=1206&date=2010&atitle=Heterogeneous+mutations+of+the+ATP2C1+gene+causing+Hailey-Hailey+disease+in+Hong+Kong+Chinese | - |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_HK |
dc.identifier.authority | Lam, CW=rp00260 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1111/j.1468-3083.2010.03623.x | en_HK |
dc.identifier.pmid | 20236194 | - |
dc.identifier.scopus | eid_2-s2.0-77955411257 | en_HK |
dc.identifier.hkuros | 176798 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-77955411257&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 24 | en_HK |
dc.identifier.issue | 10 | en_HK |
dc.identifier.spage | 1202 | en_HK |
dc.identifier.epage | 1206 | en_HK |
dc.identifier.isi | WOS:000281555800013 | - |
dc.publisher.place | United Kingdom | en_HK |
dc.identifier.citeulike | 7856976 | - |
dc.identifier.issnl | 0926-9959 | - |