Article
A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.
Journal of human genetics - 1 Jan 2001
Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S
Abstract excerpt
Autosomal dominant hypocalcemia can be caused by activating mutations of the calcium-sensing receptor (CaSR) gene. We experienced two patients (proband and her daughter) with hypocalcemia caused by a missense mutation of the CaSR gene. The proband, aged 25, showed hypocalcemia and hypoparathyroidism from infancy. She had been diagnosed as having idiopathic hypoparathyroidism and had been treated with calcitriol....
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