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Comment
. 2018 Sep 1;103(9):3514-3515.
doi: 10.1210/jc.2018-01340.

A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner

Murat Bastepe  1
Affiliations
Comment

A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner

Murat Bastepe. J Clin Endocrinol Metab. .

Abstract

A new gain-of-function CASR mutation has been described as a cause of hypocalcemia. This mutation, unlike other such mutations, is inherited recessively and has implications in genetic evaluation.

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References

    1. Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O, Sun A, Hediger MA, Lytton J, Hebert SC. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature. 1993;366(6455):575–580. - PubMed
    1. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 1996;335(15):1115–1122. - PubMed
    1. Hannan FM, Babinsky VN, Thakker RV. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol. 2016;57(3):R127–R142. - PMC - PubMed
    1. Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H. Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med. 2013;368(26):2532–2534. - PMC - PubMed
    1. Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H III, Thakker RV. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013;368(26):2476–2486. - PMC - PubMed

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