{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T22:28:34Z","timestamp":1779229714272,"version":"3.51.4"},"reference-count":70,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:00:00Z","timestamp":1696464000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 \u00bd years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.<\/jats:p>","DOI":"10.3390\/genes14101909","type":"journal-article","created":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T09:14:22Z","timestamp":1696497262000},"page":"1909","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome\u2014Case Report and Brief Review of the Literature"],"prefix":"10.3390","volume":"14","author":[{"given":"Claudia Maria","family":"Jurca","sequence":"first","affiliation":[{"name":"Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"},{"name":"Regional Center of Medical Genetics Bihor, County Emergency Clinical Hospital Oradea (Part of ERN-ITHACA), 410469 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ovidiu","family":"Fr\u0103\u021bil\u0103","sequence":"additional","affiliation":[{"name":"Department of Medical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiberia","family":"Ilia\u0219","sequence":"additional","affiliation":[{"name":"Department of Medical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurora","family":"Jurca","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea","family":"C\u0103tana","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400012 Cluj Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corina","family":"Moisa","sequence":"additional","affiliation":[{"name":"Department of Pharmacy Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru Daniel","family":"Jurca","sequence":"additional","affiliation":[{"name":"Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","article-title":"Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria","volume":"105","author":"Burt","year":"2013","journal-title":"J. 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