Autosomal Dominant Hypocalcemia

Hendy, G. N., D Souza-li, L., Yang, B., Canaff, L., and Cole, D. E. C. (2000) Mutations of the calcium-sensing receptor (CASR) in famdial hypocalduric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum. Mutat. 16, 281-296. 

D Souza-Li, L, Yang, B, Canaff, L, Bai, M, Hanley, DA, Bastepe, M, Salisbury, SR, Brown, EM, Cole, DE and Hendy, GN, 2002, Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia, J Clin Endocrinol Metab 87 1309-1318... 

Gain-of-fiinction mutations in the CASR gene have been identified in several families previously diagnosed with autosomal dominant hypocalcemia (ADH), autosomal dominant hypoparathyroidism, and hypocalcemic hypercalciuria [55], In the parathyroid gland, the activated CASR suppresses PTH secretion and in the kidney, it... 

Pidasheva S, D Souza-Li L, Canaff L et al (2004) CASRdb calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 24 107-111... 

Alvarez-Hernandez D, Santamaria I, Rodriguez-Garcia M, et al. A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. J Mol Endocrinol 2003 31 255-262. 

Hu J, Mora S, Colussi G, et al. Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. J Bone Miner Res 2002 17 1461-1469. 

Families affected by ADH, autosomal dominant hypoparathyroidism, and hypocal-cemic hypercalcinria have each been defined by gain-of-function mutations in the CASR gene (44). ADH is associated with the expression of constitutively activated CASR, which serves to suppress PTH secretion from the parathyroid gland. In the kidney it induces hypercalciuria, which further contributes to the hypocalcemia. 

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