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Article: A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia

TitleA novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia
Authors
KeywordsFounder effect
Gene duplication
Hong kong
Isovaleryl-CoA dehydrogenase
Issue Date2010
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2010, v. 16 n. 3, p. 219-222 How to Cite?
AbstractIsovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases.
Persistent Identifierhttp://hdl.handle.net/10722/129516
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorLee, HHCen_HK
dc.contributor.authorLee, RSYen_HK
dc.contributor.authorLai, CKen_HK
dc.contributor.authorYuen, YPen_HK
dc.contributor.authorSiu, TSen_HK
dc.contributor.authorChan, AYWen_HK
dc.contributor.authorLam, CWen_HK
dc.date.accessioned2010-12-23T08:38:20Z-
dc.date.available2010-12-23T08:38:20Z-
dc.date.issued2010en_HK
dc.identifier.citationHong Kong Medical Journal, 2010, v. 16 n. 3, p. 219-222en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129516-
dc.description.abstractIsovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases.en_HK
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectFounder effecten_HK
dc.subjectGene duplicationen_HK
dc.subjectHong kongen_HK
dc.subjectIsovaleryl-CoA dehydrogenaseen_HK
dc.titleA novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemiaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=16&issue=3&spage=219&epage=222&date=2010&atitle=A+novel+duplication+at+the+putative+DNA+polymerase+alpha+arrest+site+and+a+founder+mutation+in+Chinese+in+the+IVD+gene+underlie+isovaleric+acidaemia-
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturepublished_or_final_versionen_US
dc.identifier.pmid20519759-
dc.identifier.scopuseid_2-s2.0-77955826136en_HK
dc.identifier.hkuros176796en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77955826136&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume16en_HK
dc.identifier.issue3en_HK
dc.identifier.spage219en_HK
dc.identifier.epage222en_HK
dc.publisher.placeHong Kongen_HK

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