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- Publisher Website: 10.1016/j.cccn.2005.04.026
- Scopus: eid_2-s2.0-24044521944
- PMID: 15963484
- WOS: WOS:000232682200021
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Article: Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
Title | Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia |
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Authors | |
Keywords | Calcium-sensing receptor CASR Familial hypocalciuric hypercalcemia Mutation |
Issue Date | 2005 |
Publisher | Elsevier 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? |
Abstract | Background: 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 Identifier | http://hdl.handle.net/10722/148424 |
ISSN | 2023 Impact Factor: 3.2 2023 SCImago Journal Rankings: 1.016 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Lee, KF | en_US |
dc.contributor.author | Chan, AOK | en_US |
dc.contributor.author | Poon, PMK | en_US |
dc.contributor.author | Law, TY | en_US |
dc.contributor.author | Tong, SF | en_US |
dc.date.accessioned | 2012-05-29T06:12:54Z | - |
dc.date.available | 2012-05-29T06:12:54Z | - |
dc.date.issued | 2005 | en_US |
dc.identifier.citation | Clinica Chimica Acta, 2005, v. 360 n. 1-2, p. 167-172 | en_US |
dc.identifier.issn | 0009-8981 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148424 | - |
dc.description.abstract | Background: 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.language | eng | en_US |
dc.publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca | en_US |
dc.relation.ispartof | Clinica Chimica Acta | en_US |
dc.subject | Calcium-sensing receptor | - |
dc.subject | CASR | - |
dc.subject | Familial hypocalciuric hypercalcemia | - |
dc.subject | Mutation | - |
dc.subject.mesh | Asian Continental Ancestry Group | en_US |
dc.subject.mesh | Dna Mutational Analysis - Methods | en_US |
dc.subject.mesh | Family Health | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Heterozygote | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Hypercalcemia - Genetics | en_US |
dc.subject.mesh | Middle Aged | en_US |
dc.subject.mesh | Mutation, Missense | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Receptors, Calcium-Sensing - Chemistry - Genetics | en_US |
dc.title | Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1016/j.cccn.2005.04.026 | en_US |
dc.identifier.pmid | 15963484 | - |
dc.identifier.scopus | eid_2-s2.0-24044521944 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-24044521944&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 360 | en_US |
dc.identifier.issue | 1-2 | en_US |
dc.identifier.spage | 167 | en_US |
dc.identifier.epage | 172 | en_US |
dc.identifier.isi | WOS:000232682200021 | - |
dc.publisher.place | Netherlands | en_US |
dc.identifier.issnl | 0009-8981 | - |