ea0049oc10.5 | Bone & Calcium Homeostasis | ECE2017
Gorvin Caroline M.
, Cranston Treena
, Hannan Fadil M.
, Valta Helena
, Makitie Outi
, Schalin-Jantti Camilla
, Thakker Rajesh V.
Mutations of the calcium-sensing receptor (CaSR), G-protein alpha-11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ) resulting in a loss-of-function, cause familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), respectively. We investigated a family with FHH (four affected and two unaffected members) for CaSR, Gα11 and AP2σ mutations, and identified a heterozygous Gα11 missense mutation, Phe220Ser, which is predicted to disrupt a cluster o...