Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia.

Benjamin H Mullin Nathan John Pavlos Suzanne J Brown John P WalshRoss A McKellarScott G Wilson Bryan K Ward

Published in: Journal of the Endocrine Society (2022)

missense variants identified in probands provisionally diagnosed with FHH result in receptor inactivation and are therefore likely causative of FHH. Inactivation may be due to inadequate processing/trafficking of mature receptor and/or conformational changes induced by the variants affecting receptor signaling. This study demonstrates the value of functional studies in assessing genetic variants identified in hypercalcemic patients.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
molecular dynamics
early onset
gene expression
single molecule
molecular dynamics simulations
intellectual disability
autism spectrum disorder