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Article: Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

TitleNovel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
Authors
Issue Date2005
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2005, v. 360 n. 1-2, p. 167-172 How to Cite?
AbstractBackground: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia resulting from loss-of-function mutations of the CASR (calcium-sensing receptor) gene located on chromosome 3, or from mutations in two mapped but unidentified genes located on chromosome 19. Methods: We report a middle-aged woman incidentally found to have FHH. To determine the molecular basis of FHH in this Chinese family, we performed direct DNA sequencing of the CASR gene of the proband. Results: We found that the proband is heterozygous for a novel missense mutation P798T, confirming the diagnosis of FHH. Family screening showed that all of the offspring with biochemical features of FHH have the P798T mutation. The mutation, P798T, is located in the third intracellular loop of the CASR, possibly affecting the downstream calcium sensing pathway and therefore inactivating the receptor function. Conclusions: The molecular basis of FHH in a Chinese family was established. The developed mutation detection assay provides a reliable method for identifying FHH carriers. © 2005 Elsevier B.V. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148424
ISSN
2015 Impact Factor: 2.799
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorLee, KFen_US
dc.contributor.authorChan, AOKen_US
dc.contributor.authorPoon, PMKen_US
dc.contributor.authorLaw, TYen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:12:54Z-
dc.date.available2012-05-29T06:12:54Z-
dc.date.issued2005en_US
dc.identifier.citationClinica Chimica Acta, 2005, v. 360 n. 1-2, p. 167-172en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148424-
dc.description.abstractBackground: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia resulting from loss-of-function mutations of the CASR (calcium-sensing receptor) gene located on chromosome 3, or from mutations in two mapped but unidentified genes located on chromosome 19. Methods: We report a middle-aged woman incidentally found to have FHH. To determine the molecular basis of FHH in this Chinese family, we performed direct DNA sequencing of the CASR gene of the proband. Results: We found that the proband is heterozygous for a novel missense mutation P798T, confirming the diagnosis of FHH. Family screening showed that all of the offspring with biochemical features of FHH have the P798T mutation. The mutation, P798T, is located in the third intracellular loop of the CASR, possibly affecting the downstream calcium sensing pathway and therefore inactivating the receptor function. Conclusions: The molecular basis of FHH in a Chinese family was established. The developed mutation detection assay provides a reliable method for identifying FHH carriers. © 2005 Elsevier B.V. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshDna Mutational Analysis - Methodsen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshHypercalcemia - Geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshReceptors, Calcium-Sensing - Chemistry - Geneticsen_US
dc.titleNovel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemiaen_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.doi10.1016/j.cccn.2005.04.026en_US
dc.identifier.pmid15963484-
dc.identifier.scopuseid_2-s2.0-24044521944en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-24044521944&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume360en_US
dc.identifier.issue1-2en_US
dc.identifier.spage167en_US
dc.identifier.epage172en_US
dc.identifier.isiWOS:000232682200021-
dc.publisher.placeNetherlandsen_US

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