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Nat Genet. 1994 Nov;8(3):303-7.

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

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  • 1Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115.


Defects in the human Ca(2+)-sensing receptor gene have recently been shown to cause familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. We now demonstrate that a missense mutation (Glu128Ala) in this gene causes familial hypocalcaemia in affected members of one family. Xenopus oocytes expressing the mutant receptor exhibit a larger increase in inositol 1,4,5-triphosphate in response to Ca2+ than oocytes expressing the wild-type receptor. We conclude that this extracellular domain mutation increases the receptor's activity at low Ca2+ concentrations, causing hypocalcaemia in patients heterozygous for such a mutation.

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