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Article: A novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia

TitleA novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia
Authors
Issue Date2008
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2008, v. 14 n. 3, p. 226-228 How to Cite?
AbstractAn increasing number of patients are diagnosed with primary hyperparathyroidism after having hypercalcaemia detected incidentally during routine biochemical screening. Many are asymptomatic at the time of diagnosis. An 80-year-old woman was found to have asymptomatic hypercalcaemia. Initial investigations suggested a diagnosis of primary hyperparathyroidism. Subsequent investigations revealed that, in fact, she had familial hypocalciuric hypercalcaemia. Direct DNA sequencing of the calcium-sensing receptor (CASR) gene confirmed that the patient was heterozygous for c.2501delC, a novel frame shift mutation predicted to cause loss of function of the CASR gene. Several other family members were subsequently found to carry the same mutation. Suspected cases of hypocalciuric hypercalcaemia should be confirmed by detection of mutations within the CASR gene. Establishing the correct diagnosis will enable the patient and family members to avoid unnecessary investigations or operations.
Persistent Identifierhttp://hdl.handle.net/10722/148573
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.authorSo, WYen_US
dc.contributor.authorTong, PCYen_US
dc.contributor.authorCockram, CSen_US
dc.contributor.authorChow, CCen_US
dc.date.accessioned2012-05-29T06:13:49Z-
dc.date.available2012-05-29T06:13:49Z-
dc.date.issued2008en_US
dc.identifier.citationHong Kong Medical Journal, 2008, v. 14 n. 3, p. 226-228en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148573-
dc.description.abstractAn increasing number of patients are diagnosed with primary hyperparathyroidism after having hypercalcaemia detected incidentally during routine biochemical screening. Many are asymptomatic at the time of diagnosis. An 80-year-old woman was found to have asymptomatic hypercalcaemia. Initial investigations suggested a diagnosis of primary hyperparathyroidism. Subsequent investigations revealed that, in fact, she had familial hypocalciuric hypercalcaemia. Direct DNA sequencing of the calcium-sensing receptor (CASR) gene confirmed that the patient was heterozygous for c.2501delC, a novel frame shift mutation predicted to cause loss of function of the CASR gene. Several other family members were subsequently found to carry the same mutation. Suspected cases of hypocalciuric hypercalcaemia should be confirmed by detection of mutations within the CASR gene. Establishing the correct diagnosis will enable the patient and family members to avoid unnecessary investigations or operations.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.meshAged, 80 And Overen_US
dc.subject.meshFemaleen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshHumansen_US
dc.subject.meshHypercalcemia - Geneticsen_US
dc.subject.meshHyperparathyroidism - Geneticsen_US
dc.subject.meshReceptors, Calcium-Sensing - Geneticsen_US
dc.titleA novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemiaen_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.pmid18525093-
dc.identifier.scopuseid_2-s2.0-48749109441en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-48749109441&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume14en_US
dc.identifier.issue3en_US
dc.identifier.spage226en_US
dc.identifier.epage228en_US
dc.publisher.placeHong Kongen_US

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