The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis

Abstract

International audienceThe human calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that signals via intracellular calcium mobilization and MAPK pathway to regulate extracellular calcium homeostasis. Loss-or gain-of-function heterozygous CASR variants lead to familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia (ADH), respectively