A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

doi:10.1016/j.ajhg.2025.06.013

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Article

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

American journal of human genetics - 7 Aug 2025

Chang Jeremy B, Barnhill Connor P, Apostolov Alexander M, Soliai Marcus M, Hecker Julian, Nierenberg Jovia L, Stapleton Smith Lyndsay M, Mathew Arun S, Zeng Xue, Diao Jiayin, Fernando C Dilanka, Chen Qingwen, Dulken Ben W, Petukhov Aleksandr, Altman Russ, Josephs Tracy M, Lasky-Su Jessica A, Gorvin Caroline M, Roberts Mary Scott, Adler Scott H, Fox Jonathan C, Lange Christoph, Ji Sun-Gou

Abstract excerpt

The availability of genomic sequencing has revealed that variants in genes that cause rare monogenic disorders are relatively common, which raises the question of variant pathogenicity. Autosomal-dominant hypocalcemia type 1 (ADH1) is a rare genetic form of hypoparathyroidism caused by gain-of-function (GoF) variants in the calcium-sensing receptor (CaSR) encoded by CASR. We examined the prevalence, penetrance,...

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PMID: 40664210
DOI: 10.1016/j.ajhg.2025.06.013
PMCID: PMC12414667

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CASR

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