{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:10Z","timestamp":1772160070836,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T00:00:00Z","timestamp":1648684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in\n                    <jats:italic>LTBP3<\/jats:italic>\n                    are associated with Dental Anomalies and Short Stature syndrome (DASS; MIM 601216), which is characterized by hypoplastic type amelogenesis imperfecta, hypodontia, underdeveloped maxilla, short stature, brachyolmia, aneurysm and dissection of the thoracic aorta. Here we report a novel (p.Arg545ProfsTer22) and a recurrent (c.3107\u20102A\u2009&gt;\u2009G)\n                    <jats:italic>LTBP3<\/jats:italic>\n                    variants, in a Turkish family affected with DASS. The proband, who carried compound heterozygous variant c.3107\u20102A\u2009&gt;\u2009G, p.Arg545ProfsTer22, was most severely affected with DASS. The proband's father, who carried the heterozygous variant c.3107\u20102A\u2009&gt;\u2009G had short stature and prognathic mandible. The mother and brother of the proband carried the heterozygous variant p.Arg545ProfsTer22, but only the mother showed any DASS characteristics. The c.3107\u20102A\u2009&gt;\u2009G and the p.Arg545ProfsTer22 variants are expected to result in abnormal LTPB3 protein, failure of TGF\u03b2\u2010LAP\u2010LTBP3 complex formation, and subsequent disruption of TGF\u03b2 secretion and activation. This is the first report of heterozygous carriers of\n                    <jats:italic>LTBP3<\/jats:italic>\n                    variants showing phenotypes. The new findings of DASS found in this family include taurodontism, single\u2010rooted molars, abnormal dentin, calcified dental pulp blood vessels, prognathic mandible, failure of mandibular tooth eruption, interatrial septal aneurysm, secundum atrial septal defect, tricuspid valve prolapse, and a recurrent glenohumeral joint dislocation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14134","type":"journal-article","created":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T05:16:59Z","timestamp":1648617419000},"page":"66-71","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Expanding genotypic and phenotypic spectrums of\n                    <scp>\n                      <i>LTBP3<\/i>\n                    <\/scp>\n                    variants in dental anomalies and short stature syndrome"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"Piranit","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University  Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeliz","family":"Guven","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tugba","family":"Kalayci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin Karaca","family":"\u00d6zer","sequence":"additional","affiliation":[{"name":"Istanbul Medical Faculty, Department of Cardiology Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3557-586X","authenticated-orcid":false,"given":"Wannakamon","family":"Panyarak","sequence":"additional","affiliation":[{"name":"Division of Oral and Maxillofacial Radiology, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Worrachet","family":"Intachai","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjorn","family":"Olsen","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology, Harvard School of Dental Medicine Harvard University  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce M.","family":"Carlson","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oranud","family":"Praditsap","sequence":"additional","affiliation":[{"name":"Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital Mahidol University  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sissades","family":"Tongsima","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand, National Science and Technology Development Agency  Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chumpol","family":"Ngamphiw","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand, National Science and Technology Development Agency  Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peeranat","family":"Jatooratthawichot","sequence":"additional","affiliation":[{"name":"School of Chemistry, Institute of Science, Suranaree University of Technology  Nakhon Ratchasima Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail S.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology, King's College London, Guy's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Ketudat Cairns","sequence":"additional","affiliation":[{"name":"School of Chemistry, Institute of Science, Suranaree University of Technology  Nakhon Ratchasima 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