RGD Reference Report - Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. - Rat Genome Database

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Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Authors: Pollak, MR  Brown, EM  Chou, YH  Hebert, SC  Marx, SJ  Steinmann, B  Levi, T  Seidman, CE  Seidman, JG 
Citation: Pollak MR, etal., Cell. 1993 Dec 31;75(7):1297-303.
RGD ID: 1600616
Pubmed: PMID:7916660   (View Abstract at PubMed)

We demonstrate that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis. The Ca(2+)-sensing receptor belongs to the superfamily of seven membrane-spanning G protein-coupled receptors. Three nonconservative missense mutations are reported: two occur in the extracellular N-terminal domain of the receptor; the third occurs in the final intracellular loop. One mutated receptor identified in FHH individuals was expressed in X. laevis oocytes. The expressed wild-type receptor elicited large inward currents in response to perfused polyvalent cations; a markedly attenuated response was observed with the mutated protein. We conclude that the mammalian Ca(2+)-sensing receptor "sets" the extracellular Ca2+ level and is defective in individuals with FHH and NSHPT.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
familial hypocalciuric hypercalcemia 1  IAGP 1600616DNA:missense mutations:cds:p.R186E more ...RGD 
familial hypocalciuric hypercalcemia 1  ISOCASR (Homo sapiens)1600616; 1600616DNA:missense mutations:cds:p.R186E more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypercalcemia  IAGP 1600616DNA:missense mutations:cds:p.R186E more ...RGD 
Hypocalciuria  IAGP 1600616DNA:missense mutations:cds:p.R186E more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Casr  (calcium-sensing receptor)

Genes (Mus musculus)
Casr  (calcium-sensing receptor)

Genes (Homo sapiens)
CASR  (calcium sensing receptor)


Additional Information