{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:52:23Z","timestamp":1753890743667,"version":"3.41.2"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Glial cells missing transcription factor 2 (<jats:italic>GCM2<\/jats:italic>) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by <jats:italic>GCM2<\/jats:italic> pathogenic variants result from homozygous or compound heterozygous loss-of-function variants, with only a limited number of heterozygous variants reported. A 24-year-old woman with recurrent tonic convulsions was admitted to our hospital. Laboratory findings revealed severe hypocalcemia (1.28 mmol\/L), normophosphatemia (1.36 mmol\/L), and low intact parathyroid hormone levels (0.84 pmol\/L). Based on this, hypoparathyroidism was diagnosed. Comprehensive gene analysis using next-generation sequencing revealed a novel heterozygous frameshift pathogenic variant (c.1366delG, p.Ala456ProfsTer75) in the <jats:italic>GCM2<\/jats:italic> gene (NM_004752.4). Sanger sequencing of the patient and parents confirmed <jats:italic>de novo<\/jats:italic> occurrence. This variant is predicted to exert a dominant-negative effect by impairing <jats:italic>GCM2<\/jats:italic> function. This case provides further evidence that heterozygous <jats:italic>GCM2<\/jats:italic> variants can lead to hypoparathyroidism. Additionally, it underscores the importance of genetic testing for hypoparathyroidism of unknown etiology even in adults.<\/jats:p>","DOI":"10.3389\/fendo.2025.1589182","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T04:10:29Z","timestamp":1750997429000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case 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