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Article: Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene

TitlePersistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene
Authors
KeywordsCalcium-sensing
Hypocalcemia
Hypoparathyroidism
Missense
Mutation
Receptors
Issue Date2011
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2011, v. 17 n. 2, p. 157-160 How to Cite?
AbstractA significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. This report is of a novel activating mutation of the CaSR gene identified in a 10-year-old Chinese girl who was initially diagnosed as having idiopathic hypoparathyroidism at 6 years of age after presenting with seizures. Her serum calcium level was difficult to maintain near the lower limit of normal despite treatment with high-dose calcitriol. Treatment with calcitriol produced significantly elevated urinary calcium-to-creatinine ratio. Direct sequencing of the CaSR gene showed a novel heterozygous mutation (p.Q735P (c.2204A>C)). Molecular genetic analysis of her parents demonstrated that both parents did not harbour the child's mutation, indicating that her mutation had arisen de novo. © 1995-2011 HKAM.
Persistent Identifierhttp://hdl.handle.net/10722/139921
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorWong, WCen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorTong, CTen_HK
dc.date.accessioned2011-09-23T06:01:18Z-
dc.date.available2011-09-23T06:01:18Z-
dc.date.issued2011en_HK
dc.identifier.citationHong Kong Medical Journal, 2011, v. 17 n. 2, p. 157-160en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139921-
dc.description.abstractA significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. This report is of a novel activating mutation of the CaSR gene identified in a 10-year-old Chinese girl who was initially diagnosed as having idiopathic hypoparathyroidism at 6 years of age after presenting with seizures. Her serum calcium level was difficult to maintain near the lower limit of normal despite treatment with high-dose calcitriol. Treatment with calcitriol produced significantly elevated urinary calcium-to-creatinine ratio. Direct sequencing of the CaSR gene showed a novel heterozygous mutation (p.Q735P (c.2204A>C)). Molecular genetic analysis of her parents demonstrated that both parents did not harbour the child's mutation, indicating that her mutation had arisen de novo. © 1995-2011 HKAM.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.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Academy of Medicine Press.-
dc.subjectCalcium-sensingen_HK
dc.subjectHypocalcemiaen_HK
dc.subjectHypoparathyroidismen_HK
dc.subjectMissenseen_HK
dc.subjectMutationen_HK
dc.subjectReceptorsen_HK
dc.subject.meshCalcitriol - therapeutic use-
dc.subject.meshChild-
dc.subject.meshHypocalcemia - drug therapy - etiology - genetics-
dc.subject.meshMutation-
dc.subject.meshReceptors, Calcium-Sensing - genetics-
dc.titlePersistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor geneen_HK
dc.typeArticleen_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.pmid21471599-
dc.identifier.scopuseid_2-s2.0-79955754618en_HK
dc.identifier.hkuros192450en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79955754618&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume17en_HK
dc.identifier.issue2en_HK
dc.identifier.spage157en_HK
dc.identifier.epage160en_HK
dc.publisher.placeHong Kongen_HK

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