GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Sarah VinczeNicholas V PetersChia-Ling KuoTaylor C BrownReju KorahTimothy D MurthaJustin BellizziAaliyah RiccardiKourosh ParhamTobias CarlingJessica Costa-GudaAndrew ArnoldPublished in: The Journal of clinical endocrinology and metabolism (2022)
Observed in vitro-activating GCM2 variant alleles are significantly overrepresented in PHPT patients with multiglandular or familial disease compared to the general population, yet penetrance values are very low; that is, most individuals with these variants in the population have a very low risk of developing PHPT. The potential clinical utility of detecting these GCM2 variants requires further investigation, including assessing their possible role as pathogenic/low-penetrance alleles.