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Article: Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese

TitleHeterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese
Authors
KeywordsATP2C1
familial benign chronic pemphigus
Hailey-Hailey disease
mutation analysis
Issue Date2010
PublisherWiley-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?
AbstractBackground 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 Identifierhttp://hdl.handle.net/10722/129496
ISSN
2015 Impact Factor: 3.029
2015 SCImago Journal Rankings: 1.445
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCheng, TSen_HK
dc.contributor.authorHo, KMen_HK
dc.contributor.authorLam, CWen_HK
dc.date.accessioned2010-12-23T08:38:07Z-
dc.date.available2010-12-23T08:38:07Z-
dc.date.issued2010en_HK
dc.identifier.citationJournal Of The European Academy Of Dermatology And Venereology, 2010, v. 24 n. 10, p. 1202-1206en_HK
dc.identifier.issn0926-9959en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129496-
dc.description.abstractBackground 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.languageengen_US
dc.publisherWiley-Blackwell Publishing Ltd. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0926-9959en_HK
dc.relation.ispartofJournal of the European Academy of Dermatology and Venereologyen_HK
dc.rightsThe definitive version is available at www3.interscience.wiley.com-
dc.subjectATP2C1en_HK
dc.subjectfamilial benign chronic pemphigusen_HK
dc.subjectHailey-Hailey diseaseen_HK
dc.subjectmutation analysisen_HK
dc.subject.meshBiopsy-
dc.subject.meshCalcium-Transporting ATPases - genetics-
dc.subject.meshChina - ethnology-
dc.subject.meshMutation - genetics-
dc.subject.meshPemphigus, Benign Familial - epidemiology - ethnology - genetics-
dc.titleHeterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://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.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1468-3083.2010.03623.xen_HK
dc.identifier.pmid20236194-
dc.identifier.scopuseid_2-s2.0-77955411257en_HK
dc.identifier.hkuros176798en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77955411257&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume24en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1202en_HK
dc.identifier.epage1206en_HK
dc.identifier.isiWOS:000281555800013-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.citeulike7856976-

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