Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

ABSTRACT:

Context

Various genes have been associated with familial and sporadic primary hyperparathyroidism (PHPT), including activating mutations of the glial cells missing transcription factor 2 (GCM2) gene.

Objective

The aim of this study was to assess the prevalence of the GCM2 p.Tyr394Ser variant in the Jerusalem Ashkenazi Jewish (AJ) population with PHPT, and to conclude whether routine genetic testing is justified.

Methods

The blood of 40 self-reported AJ patients with PHPT and 200 AJ controls was tested for the GCM2 p.Tyr394Ser variant. Demographic and medical information was extracted from the patients' charts and evaluated accordingly.

Results

Two (5%) PHPT patients and 3 (1.5%) controls were heterozygotes for the tested variant. Our patien

SUBMITTER: Tolkin L 

PROVIDER: S-EPMC10289514 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature