Article
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
The Journal of clinical endocrinology and metabolism - 1 Jul 1998
Watanabe T, Bai M, Lane C R, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown E M, Yasuda T
Abstract excerpt
Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism. We report a Japanese family with severe hypoparathyroidism with pretreatment serum calcium (Ca) levels of 4.9-5.9 mg/dL. The proband presented with a seizure at 6 days of age. Her older brother and mother, who had also experienced...
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