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

Andreea Apetrei (1, 2) , Nicolas Richard (1, 2) , Stéphane Allouche (3) , A. Groso (2) , Paul Fontaine (1) , Antoine Resbeut (1) , Nicolas Gruchy (1, 2) , Arnaud Molin (1, 2)

1 Service de Génétique [CHU Caen]
2 BIOTARGEN - Biologie, génétique et thérapies ostéoarticulaires et respiratoires
3 Service de biochimie [CHU Caen]

The 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.

Domaines: Génétique

Andreea Apetrei, Nicolas Richard, Stéphane Allouche, A. Groso, Paul Fontaine, et al.. The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis. European Human Genetics Conference (ESHG ) 2022, Jun 2022, Vienne, Austria. ⟨hal-03705417⟩