| First Author | Pollak MR | Year | 1993 |
| Journal | Cell | Volume | 75 |
| Issue | 7 | Pages | 1297-303 |
| PubMed ID | 7916660 | Mgi Jnum | J:43659 |
| Mgi Id | MGI:1098202 | Doi | 10.1016/0092-8674(93)90617-y |
| Citation | Pollak MR, et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75(7):1297-303 |
| abstractText | 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. |
