A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

Journal article

BACKGROUND: The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular calcium concentrations, and mutations that result in a loss of function of the receptor are associated with familial hypocalciuric hypercalcemia. Mutations involving a gain of function have been associated with hypocalcemia in two kindreds. We examined the possibility that the latter type of mutation may result in a phenotype of familial hypocalcemia with hypercalciu...

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Authors: Pearce, S; Williamson, C; Kifor, O; Bai, M; Coulthard, MG

• Publication status: Published
• Journal: New England journal of medicine
• Volume: 335
• Issue: 15
• Pages: 1115-1122
• Publication date: 1996-10-01
• DOI: 10.1056/nejm199610103351505
• EISSN: 1533-4406
• ISSN: 0028-4793
• Language: English
• Keywords: Adolescent; Amino Acid Sequence; Pedigree; Hypoparathyroidism; Humans; Polymorphism, Single-Stranded Conformational; Molecular Sequence Data; Adult; Middle Aged; Aged; Female; Hypocalcemia; Male; Point Mutation; Receptors, Calcium-Sensing; Receptors, Cell Surface; Diagnosis, Differential; Calcium; Phenotype; Child, Preschool; Parathyroid Hormone; Syndrome; Base Sequence; Child