{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:34Z","timestamp":1753869694828,"version":"3.41.2"},"reference-count":49,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003787","name":"Natural Science Foundation of Hebei Province","doi-asserted-by":"publisher","award":["H2022206246"],"award-info":[{"award-number":["H2022206246"]}],"id":[{"id":"10.13039\/501100003787","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>MSX1<\/jats:italic> (OMIM #142983) is crucial to normal dental development, and variants in <jats:italic>MSX1<\/jats:italic> are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel <jats:italic>MSX1<\/jats:italic> variants in Chinese families with non\u2010syndromic oligodontia (NSO).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA was extracted from individuals representing 35 families with non\u2010syndromic oligodontia and was analyzed by Sanger sequencing and whole\u2010exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen\u20102, Sorting\u2010Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of <jats:italic>MSX1<\/jats:italic>\u2010related NSO were analyzed. MSX1 structural changes suggested functional consequences in\u00a0vitro.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three previously unreported <jats:italic>MSX1<\/jats:italic> heterozygous variants were identified: one insertion variant (c.576_577insTAG; p.Gln193*) and two missense variants (c. 871T&gt;C; p.Tyr291His and c. 644A&gt;C; p.Gln215Pro). Immunofluorescence analysis revealed abnormal subcellular localization of the p.Gln193* MSX1 variant. In addition, we found that these <jats:italic>MSX1<\/jats:italic> variants likely lead to the loss of second premolars.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Three novel <jats:italic>MSX1<\/jats:italic> variants were identified in Chinese Han families with NSO, expanding the <jats:italic>MSX1<\/jats:italic> variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2334","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T06:54:33Z","timestamp":1702104873000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Characterization of novel <i>MSX1<\/i> variants causally associated with non\u2010syndromic oligodontia in Chinese families"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1354-1127","authenticated-orcid":false,"given":"Ya","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, School and Hospital of Stomatology Hebei Medical University  Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0543-3273","authenticated-orcid":false,"given":"Jiabao","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, Hebei Key Laboratory of Stomatology, Hebei Clinical Research Center for Oral Diseases, School and Hospital of Stomatology Hebei Medical University  Shijiazhuang PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingqiang","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, Hebei Key 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