Context: The glial cells missing 2 () gene functions as a transcription factor that is essential for parathyroid gland development, and variants in this gene have been associated with 2 parathyroid diseases: isolated hypoparathyroidism in patients with homozygous germline inactivating variants and primary hyperparathyroidism in patients with heterozygous germline activating variants. A recurrent germline activating missense variant of , p.Y394S, has been reported in patients with familial primary hyperparathyroidism.
Objective: To determine whether the p.Y394S missense variant causes overactive and enlarged parathyroid glands in a mouse model.
Methods: CRISPR/Cas9 gene editing technology was used to generate a mouse model with the germline heterozygous variant p.Y392S that corresponds to the human p.Y394S variant. Wild-type () and germline heterozygous () mice were evaluated for serum biochemistry and parathyroid gland morphology.
Results: mice did not show any change compared to mice in serum calcium and parathyroid hormone levels, parathyroid gland histology, cell proliferation, or parathyroid gland size.
Conclusion: The mouse model of the p.Y392S variant of shows that this variant is tolerated in mice, as it does not increase parathyroid gland cell proliferation and circulating calcium or PTH levels. Further investigation of mice to study the effect of this variant of on early events in parathyroid gland development will be of interest.
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| http://dx.doi.org/10.1210/jendso/bvad126 | DOI Listing |
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