{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:49:06Z","timestamp":1787028546630,"version":"build-2736575974"},"reference-count":59,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T00:00:00Z","timestamp":1723680000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002842","name":"Chiang Mai University","doi-asserted-by":"crossref","award":["64\u2013123"],"award-info":[{"award-number":["64\u2013123"]}],"id":[{"id":"10.13039\/501100002842","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Genomics Thailand Research Grant of Health Systems Research Institute of Thailand","award":["64\u2013123"],"award-info":[{"award-number":["64\u2013123"]}]},{"name":"Stowers Family Endowment for dental and musculoskeletal research","award":["64\u2013123"],"award-info":[{"award-number":["64\u2013123"]}]},{"name":"Center for Biomolecular Structure, Function and Application, Suranaree University of Technology","award":["64\u2013123"],"award-info":[{"award-number":["64\u2013123"]}]}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJMS"],"abstract":"<jats:p>Ramon syndrome (MIM 266270) is an extremely rare genetic syndrome, characterized by gingival fibromatosis, cherubism-like lesions, epilepsy, intellectual disability, hypertrichosis, short stature, juvenile rheumatoid arthritis, and ocular abnormalities. Hereditary or non-syndromic gingival fibromatosis (HGF) is also rare and considered to represent a heterogeneous group of disorders characterized by benign, slowly progressive, non-inflammatory gingival overgrowth. To date, two genes, ELMO2 and TBC1D2B, have been linked to Ramon syndrome. The objective of this study was to further investigate the genetic variants associated with Ramon syndrome as well as HGF. Clinical, radiographic, histological, and immunohistochemical examinations were performed on affected individuals. Exome sequencing identified rare variants in TBC1D2B in both conditions: a novel homozygous variant (c.1879_1880del, p.Glu627LysfsTer61) in a Thai patient with Ramon syndrome and a rare heterozygous variant (c.2471A&gt;G, p.Tyr824Cys) in a Cambodian family with HGF. A novel variant (c.892C&gt;T, p.Arg298Cys) in KREMEN2 was also identified in the individuals with HGF. With support from mutant protein modeling, our data suggest that TBC1D2B variants contribute to both Ramon syndrome and HGF, although variants in additional genes might also contribute to the pathogenesis of HGF.<\/jats:p>","DOI":"10.3390\/ijms25168867","type":"journal-article","created":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T05:47:11Z","timestamp":1723700831000},"page":"8867","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis"],"prefix":"10.3390","volume":"25","author":[{"given":"Thatphicha","family":"Kularbkaew","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand"},{"name":"Division of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipaporn","family":"Thongmak","sequence":"additional","affiliation":[{"name":"Pediatric Division, Hatyai Hospital, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan","family":"Sandeth","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Preah Ang Duong Hospital, Phnom Penh 120201, Cambodia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5968-218X","authenticated-orcid":false,"given":"Teerada","family":"Daroontum","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7914-3164","authenticated-orcid":false,"given":"Callum","family":"Durward","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, University of Puthisastra, Phnom Penh 120201, Cambodia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pichai","family":"Vittayakittipong","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Duke","sequence":"additional","affiliation":[{"name":"Royal Adelaide Hospital, Adelaide, SA 5000, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anak","family":"Iamaroon","sequence":"additional","affiliation":[{"name":"Department of Oral Biology and Diagnostic Sciences, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9042-8446","authenticated-orcid":false,"given":"Sompid","family":"Kintarak","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnostic Sciences, Faculty of Dentistry, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3543-8136","authenticated-orcid":false,"given":"Worrachet","family":"Intachai","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8581-397X","authenticated-orcid":false,"given":"Chumpol","family":"Ngamphiw","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, Thailand Science Park, Pathum Thani 12120, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sissades","family":"Tongsima","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, Thailand Science Park, Pathum Thani 12120, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4646-1860","authenticated-orcid":false,"given":"Peeranat","family":"Jatooratthawichot","sequence":"additional","affiliation":[{"name":"School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima 30000, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8015-5528","authenticated-orcid":false,"given":"Timothy","family":"Cox","sequence":"additional","affiliation":[{"name":"Departments of Oral & 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Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/0030-4220(67)90416-1","article-title":"Gingival fibromatosis combined with cherubism","volume":"24","author":"Ramon","year":"1967","journal-title":"Oral Surg. 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