ea0094oc1.2 | Bone and Calcium | SFEBES2023
Kooblall Kreepa
, Hannan Fadil
, van Waes Charlotte
, Stevenson Mark
, Lines Kate
, Evans David
, Moorwood Catherine
, Owens Martina
, Tuthill Antoinette
, Thakker Rajesh
Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...