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Article

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.

Frontiers in endocrinology - 1 Jan 2023

Szalat Auryan, Shpitzen Shoshana, Pollack Rena, Mazeh Haggi, Durst Ronen, Meiner Vardiella

Abstract excerpt

Context: A germline mutation can be identified in up to 10% of patients with primary hyperparathyroidism (PHPT). In 2017, a high frequency of the GCM2 [(NM_ 004752.4) c.1181A> C; p.Tyr394Ser; rs142287570] variant was reported in PHPT Ashkenazi Jews (AJ). Objective: To evaluate the presence of the GCM2 p.Tyr394Ser variant in Israeli patients addressed for genetic evaluation to characterize their phenotype and...

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Identifiers

PMID: 38130397
DOI: 10.3389/fendo.2023.1254156
PMCID: PMC10733520

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