CASR and familial isolated hyperparathyroidism: The human CASR gene is located on chromosome 3q21.1, and loss-of-function CaSR mutations have been reported in the hypercalcemic disorders of familial benign (hypocalciuric) hypercalcemia (FBHH), neonatal severe primary hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP).