Article
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
The Journal of clinical endocrinology and metabolism - 1 Aug 1997
De Luca F, Ray K, Mancilla E E, Fan G F, Winer K K, Gore P, Spiegel A M, Baron J
Abstract excerpt
Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism. Here, we describe two additional patients with sporadic hypoparathyroidism. One patient presented with mild symptoms at age 18 yr; the other was severely symptomatic from infancy. A heterozygous missense mutation was...
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