{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T13:25:59Z","timestamp":1774272359414,"version":"3.50.1"},"reference-count":44,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006692","name":"University of Turin","doi-asserted-by":"publisher","award":["BERM_RILO_22_01"],"award-info":[{"award-number":["BERM_RILO_22_01"]}],"id":[{"id":"10.13039\/501100006692","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009873","name":"Regione Autonoma di Sardegna","doi-asserted-by":"publisher","award":["BERM_RIC_N_COMP_REND_23_01"],"award-info":[{"award-number":["BERM_RIC_N_COMP_REND_23_01"]}],"id":[{"id":"10.13039\/501100009873","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an overgrowth disorder caused by genetic and epigenetic alterations at chromosome 11p15.5. Increasing evidence suggests that imprinting defects may be accompanied by broader epigenomic perturbations affecting repetitive elements such as human endogenous retroviruses (HERVs). We quantified the transcriptional levels of the HERV-H, HERV-K, and HERV-W-pol genes, the HERV-derived env genes, Syncytin-1 (SYN1) and Syncytin-2 (SYN2), and the epigenetic regulators, TRIM28 and SETDB1, in whole blood from children and adolescents with BWS, stratified by molecular subtype (ICR2 loss of methylation, n = 14; UPD(11)pat, n = 10), and compared with age-matched healthy controls using quantitative real-time PCR. The BWS samples showed significantly increased transcription of HERV-H and HERV-K relative to controls, whereas HERV-W was unchanged. The SYN1 transcripts were significantly higher in UPD(11)pat compared with controls, while SYN2 did not differ between groups. TRIM28 and SETDB1 were significantly overexpressed in BWS, irrespective of molecular subtype, and no significant differences were observed between ICR2 and UPD(11)pat for HERV-H, HERV-K, HERV-W, TRIM28, or SETDB1. These findings indicate selective dysregulation of endogenous retroelements and key repressors in BWS, consistent with epigenetic alterations extending beyond canonical imprinted loci.<\/jats:p>","DOI":"10.3390\/cimb48030328","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T15:38:01Z","timestamp":1773934681000},"page":"328","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Human Endogenous Retroviruses and Epigenetic Regulators Are Dysregulated in Beckwith\u2013Wiedemann Syndrome"],"prefix":"10.3390","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1273-3178","authenticated-orcid":false,"given":"Ilaria","family":"Galliano","sequence":"first","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"},{"name":"Pediatric Laboratory, Department of Children\u2019s Pathology and Care, Regina Margherita Children\u2019s Hospital, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier-Angelo","family":"Tovo","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Calvi","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"},{"name":"Pediatric Laboratory, Department of Children\u2019s Pathology and Care, Regina Margherita Children\u2019s Hospital, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5430-6008","authenticated-orcid":false,"given":"Anna","family":"Pau","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Clemente","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Montanari","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"},{"name":"Pediatric Laboratory, Department of Children\u2019s Pathology and Care, Regina Margherita Children\u2019s Hospital, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Gambarino","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Mussa","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"},{"name":"Pediatric Clinical Genetics, Regina Margherita Children Hospital, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9291-1332","authenticated-orcid":false,"given":"Massimiliano","family":"Bergallo","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia 94, 10126 Turin, Italy"},{"name":"Pediatric Laboratory, Department of Children\u2019s Pathology and Care, Regina Margherita Children\u2019s Hospital, Piazza Polonia 94, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2009.106","article-title":"Beckwith\u2013Wiedemann syndrome","volume":"18","author":"Weksberg","year":"2010","journal-title":"Eur. 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