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Article

Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1).

The Journal of clinical endocrinology and metabolism - 1 Apr 2020

Boisen Ida Marie, Mos Iris, Lerche-Black Eva Merete, Juul Anders, Bräuner-Osborne Hans, Blomberg Jensen Martin

Abstract excerpt

CONTEXT: Several heterozygous loss-of-function mutations in the calcium-sensing receptor gene (CASR) leading to elevated ionized serum calcium and familial hypocalciuric hypercalcemia 1 (FHH1) have been characterized. Few mutations are not pathogenic, and previous studies suggested that the Q459R mutation does not result in an FHH1 phenotype. OBJECTIVE: We identified a family with a heterozygous CASR Q459R...

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PMID: 32160303
DOI: 10.1210/clinem/dgz205

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