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Article: A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency

TitleA Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency
Authors
Issue Date2007
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2007, v. 13 n. 2, p. 151-154 How to Cite?
AbstractWe report the genetic characteristics of a family with familial paraganglioma syndrome. The index patient was diagnosed with carcinoid tumour of the bronchus at the age of 30 years then later diagnosed with bilateral phaeochromocytoma. His sister had bilateral carotid body tumours. Mutational analyses of succinate dehydrogenase B and SDHD on the index patient showed him to be heterozygous for the M1I mutation of the SDHD gene. A genetic analysis revealed that his sister also had succinate dehydrogenase deficiency with the same mutation. Pre-symptomatic testing confirmed the genetic diagnosis, and led to a clinical diagnosis in an otherwise asymptomatic sibling. Comparison with other known cases of M1I mutation suggests that this is a founder mutation in the Chinese population. Genetic analysis of the succinate dehydrogenase genes can provide a specific diagnosis and allow for genetic screening of at-risk individuals.
Persistent Identifierhttp://hdl.handle.net/10722/148504
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorMa, RCWen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, WBen_US
dc.contributor.authorSo, WYen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChow, CCen_US
dc.contributor.authorCockram, CSen_US
dc.date.accessioned2012-05-29T06:13:21Z-
dc.date.available2012-05-29T06:13:21Z-
dc.date.issued2007en_US
dc.identifier.citationHong Kong Medical Journal, 2007, v. 13 n. 2, p. 151-154en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148504-
dc.description.abstractWe report the genetic characteristics of a family with familial paraganglioma syndrome. The index patient was diagnosed with carcinoid tumour of the bronchus at the age of 30 years then later diagnosed with bilateral phaeochromocytoma. His sister had bilateral carotid body tumours. Mutational analyses of succinate dehydrogenase B and SDHD on the index patient showed him to be heterozygous for the M1I mutation of the SDHD gene. A genetic analysis revealed that his sister also had succinate dehydrogenase deficiency with the same mutation. Pre-symptomatic testing confirmed the genetic diagnosis, and led to a clinical diagnosis in an otherwise asymptomatic sibling. Comparison with other known cases of M1I mutation suggests that this is a founder mutation in the Chinese population. Genetic analysis of the succinate dehydrogenase genes can provide a specific diagnosis and allow for genetic screening of at-risk individuals.en_US
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_US
dc.relation.ispartofHong Kong Medical Journalen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdrenal Gland Neoplasms - Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBronchial Neoplasms - Geneticsen_US
dc.subject.meshCarcinoid Tumor - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshParaganglioma, Extra-Adrenal - Geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshSuccinate Dehydrogenase - Deficiency - Geneticsen_US
dc.subject.meshSyndromeen_US
dc.titleA Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiencyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid17406045-
dc.identifier.scopuseid_2-s2.0-34147099624en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34147099624&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume13en_US
dc.identifier.issue2en_US
dc.identifier.spage151en_US
dc.identifier.epage154en_US
dc.publisher.placeHong Kongen_US

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