{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T12:53:12Z","timestamp":1779886392490,"version":"3.53.1"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Non\u2010syndromic tooth agenesis (TA) is a rare developmental disorder that impairs oral function, systemic health, psychological well\u2010being, and quality of life. The Wnt signaling pathway plays a central role in TA pathogenesis, and emerging evidence implicates that the low\u2010density lipoprotein receptor\u2010related protein 6 (LRP6) is involved in autosomal\u2010dominant inheritance of TA. In this study, whole\u2010exome sequencing (WES) of a Chinese family uncovered a novel missense mutation (c.692C&gt;T, p.T231M) in\n                    <jats:italic>LRP6<\/jats:italic>\n                    . Sanger sequencing validated this variant, which was identified as a de novo mutation in the proband. Functional assays using qRT\u2010PCR and immunofluorescent staining demonstrated that this mutation impairs LRP6 protein function and disrupts Wnt signaling. Our findings broaden the mutational spectrum of non\u2010syndromic TA and underscore the critical role of LRP6 in TA.\n                  <\/jats:p>","DOI":"10.1002\/dvg.70036","type":"journal-article","created":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T08:45:27Z","timestamp":1766133927000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel\n                    <scp>\n                      <i>LRP6<\/i>\n                    <\/scp>\n                    Mutation Highlights the Role of Wnt Signaling in Tooth Agenesis"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9771-1524","authenticated-orcid":false,"given":"Xinyuan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Stomatology, Union Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"School of Stomatology, Tongji Medical College Huazhong 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