CASR gene activating mutations in two families with autosomal dominant hypocalcemia

► ADH is a calcium metabolism syndrome caused by activating mutations of the CASR gene. ► We identified two CASR mutations in two four-generation families with ADH. ► One mutation was novel and we performed functional assays. ► The other mutation was reported and an association with heart failure was suggested. ► Functional assays confirmed the gain of function of the novel CASR mutation.