{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:30:16Z","timestamp":1791973816575,"version":"4.4.0"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,7]],"date-time":"2017-08-07T00:00:00Z","timestamp":1502064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570965"],"award-info":[{"award-number":["81570965"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600881"],"award-info":[{"award-number":["81600881"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth\u2010related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance<jats:italic>via<\/jats:italic>prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics.<jats:styled-content style=\"fixed-case\">APC<\/jats:styled-content>gene mutations were detected by<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>sequencing (<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>\u2010seq). Sequencing analysis revealed that an<jats:styled-content style=\"fixed-case\">APC<\/jats:styled-content>gene mutation in exon 15, namely 4292\u20104293\u2010Del<jats:styled-content style=\"fixed-case\">GA<\/jats:styled-content>, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore,<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>\u2010seq analysis of human supernumerary teeth suggests that the<jats:styled-content style=\"fixed-case\">APC<\/jats:styled-content>gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the<jats:styled-content style=\"fixed-case\">APC<\/jats:styled-content>gene plays an important role in tooth germ development. We identified a new mutation in the<jats:styled-content style=\"fixed-case\">APC<\/jats:styled-content>gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene\u2010based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high\u2010resolution reference for treating other syndromes associated with supernumerary teeth.<\/jats:p>","DOI":"10.1111\/jcmm.13303","type":"journal-article","created":{"date-parts":[[2017,8,7]],"date-time":"2017-08-07T08:42:47Z","timestamp":1502095367000},"page":"152-162","source":"Crossref","is-referenced-by-count":30,"title":["A novel mutation of adenomatous polyposis coli (<scp>APC<\/scp>) gene results in the formation of supernumerary teeth"],"prefix":"10.1111","volume":"22","author":[{"given":"Fang","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry School &amp; Hospital of Stomatology Tongji University Shanghai Engineering Research Center of Tooth Restoration and Regeneration Shanghai 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shangfeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Stomatology Huashan Hospital Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouliang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Stomatology Huashan Hospital Fudan University Shanghai China"},{"name":"Department of Endodontics School &amp; Hospital of Stomatology Shanghai Engineering Research Center of Tooth Restoration and Regeneration Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,7]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"112","article-title":"Developmental abnormalities of the teeth and jaws","volume":"1","author":"Schulze C","year":"1970","journal-title":"Thomas Oral 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