Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss‐of‐function mutations in the calcium‐sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation

Abstract

We described two familial hypocalciuric hypercalcaemia kindreds with loss-of-function mutations of the Ca2+ receptor gene and identified a novel heterozygous mutation (Y218C) characterized by a blunted response to Ca2+ stimulation compared to the wild-type receptor and no interference with the function of the wild-type Ca2+ receptor.