{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T17:56:26Z","timestamp":1788026186335,"version":"build-2784847793"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T00:00:00Z","timestamp":1673654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hyperparathyroidism jaw\u2010tumor syndrome (HPT\u2010JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence &lt;1\/1000000, caused by a pathogenic variant in the <jats:italic>CDC73<\/jats:italic> (or <jats:italic>HRPT2<\/jats:italic>) gene that encodes parafibromin, a protein involved in many cellular mechanisms. Patients with HPT\u2010JT have a 15\u201320% of risk of developing parathyroid carcinoma, whereas it accounts for only 1% of all cases of primary hyperparathyroidism. Patients also develop jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Report<\/jats:title><jats:p>Here are report two atypical cases of HPT\u2010JT with variable expressivity in the same family. In front of an isolated primary hyperparathyroidism at 28\u2009years of age of incidental discovery following a weight gain, the propositus benefited a first\u2010line panel by Next\u2010Generation Sequencing of the genes involved in familial hyperparathyroidism: <jats:italic>CaSR, CDC73, MEN1,<\/jats:italic> and <jats:italic>RET<\/jats:italic>. Genetic testing revealed the presence of a pathogenic germline variation <jats:italic>CDC73<\/jats:italic>: c.687_688dup; p.Val230Glufs*28, found only in nine families in the literature and allowing the diagnosis of HPT\u2010JT. Given a history of primary hyperparathyroidism at 52\u2009years and adenomyosis, the patient's mother also underwent a genetic analysis that found her daughter's variation and established her inherited trait.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In view of the clinical and genotypic heterogeneity, we confirm the interest of using an extended gene panel for the diagnosis of familial primary hyperparathyroidism. <jats:italic>CDC73<\/jats:italic> variations could be more frequent than described in the literature. The association of primary hyperparathyroidism with uterine involvement could be a new indication for analysis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2133","type":"journal-article","created":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T09:40:28Z","timestamp":1673689228000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Rare duplication of the <i>CDC73<\/i> gene and atypical hyperparathyroidism\u2010jaw tumor syndrome: A case report and review of the literature"],"prefix":"10.1002","volume":"11","author":[{"given":"Guilhaume","family":"Garrigues","sequence":"first","affiliation":[{"name":"D\u00e9partement d'Oncog\u00e9n\u00e9tique Centre Jean Perrin  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Batisse\u2010Lignier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de M\u00e9decine Nucl\u00e9aire Centre Jean Perrin  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