{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T05:16:08Z","timestamp":1771996568926,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:00:00Z","timestamp":1598227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Polish Mother\u2019s Memorial Hospital\u2014Research Institute, Lodz, Poland.","award":["-"],"award-info":[{"award-number":["-"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In multiple endocrine neoplasia type 1 (MEN1), the causative MEN1 gene mutations lead to the reduced expression of menin, which is a tumor suppressor protein. In this study, we present a case of a 16-year-old woman with severe primary hyperparathyroidism and a non-functioning pituitary microadenoma. Genetic testing demonstrated a novel germline heterozygote variant c.105_107dupGCT of MEN1, leading to Leu duplication in position 37 of the menin polypeptide chain. As such a mutation was not reported before as a causative one, confirmation of its pathogenicity required showing the same mutation in a symptomatic first-degree relative. An identical mutation was found in the patient\u2019s father, who was further diagnosed with hyperparathyroidism and a pituitary microadenoma. We observed the presence of the same MEN1-related tumors but an entirely different symptom severity. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.105_107dupGCT MEN1 mutation. This case report demonstrates the importance of genetic evaluation towards MEN1. Genetic testing for MEN1 mutations should be performed in all patients with MEN1-related tumors, and in the young patients even with only one such tumor, despite the supposedly negative family history.<\/jats:p>","DOI":"10.3390\/genes11090986","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T10:37:32Z","timestamp":1598265452000},"page":"986","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel Germline c.105_107dupGCT MEN1 Mutation in a Family with Newly Diagnosed Multiple Endocrine Neoplasia Type 1"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2910-7691","authenticated-orcid":false,"given":"Magdalena","family":"Stasiak","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2018s Memorial Hospital-Research Institute, 93-338 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3485-8219","authenticated-orcid":false,"given":"Marek","family":"Dedecjus","sequence":"additional","affiliation":[{"name":"Department of Endocrine Oncology and Nuclear Medicine, Maria Sklodowska-Curie National Research Institute of Oncology (MSCNRIO), 02-781 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Zawadzka-Starczewska","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2018s Memorial Hospital-Research Institute, 93-338 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Adamska","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2018s Memorial Hospital-Research Institute, 93-338 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Tomaszewska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology, Hematology and Diabetology, Central Teaching Hospital of the Medical University of Lodz, 91-738 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8748-3337","authenticated-orcid":false,"given":"Andrzej","family":"Lewi\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2018s Memorial Hospital-Research Institute, 93-338 Lodz, Poland"},{"name":"Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, 93-338 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/ajco.12046","article-title":"Multiple endocrine neoplasia type 1 (MEN1)","volume":"9","author":"Carroll","year":"2013","journal-title":"Asia Pac. 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