Claudia Saglia, Francesca Arruga, Caterina Scolari, Silvia Kalantari, Serena Albanese, Valeria Bracciamà, Angelo Corso Faini, Giulia Brach Del Prever, Maria Luca, Carmelo Romeo, Fiorenza Mioli, Martina Migliorero, Daniele Tessaris, Diana Carli, Antonio Amoroso, Tiziana Vaisitti, Luisa De Sanctis, Silvia Deaglio
OBJECTIVE: Calcium sensing receptor gene (CASR) encodes a G protein-coupled receptor crucial for calcium homeostasis. Gain-of-function CASR variants result in hypocalcemia, while loss-of-function variants lead to hypercalcemia. This study aims to assess the functional consequences of the novel nonsense CASR variant c.2897_2898insCTGA, p.(Gln967*) (Q967*) identified in adolescent patient with chronic hypocalcemia, a phenotype expected for a gain-of-function variants. DESIGN AND METHODS: To functionally characterize the Q967* mutant receptor, both WT and mutant CASR were transiently transfected into HEK293T cells and Calcium sensing receptor (CaSR) protein expression and function were comparatively evaluated using multiple read-outs...
April 2, 2024: European Journal of Endocrinology