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Mutations of the wingless\u2010type MMTV integration site family member 10A (<jats:italic>WNT10A<\/jats:italic>) gene have been associated with OODD. To date, only 11 OODD\u2010associated <jats:italic>WNT10A<\/jats:italic> mutations have been reported. In this report, we Characterized the clinical manifestations with focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, we identified five novel mutations in the <jats:italic>WNT10A<\/jats:italic> gene, including two homozygous nonsense mutations c.1176C&gt;A (p.Cys392*) and c.742C&gt;T (p.Arg248*), one homozygous frame\u2010shift mutation c.898\u2010899delAT (p.Ile300Profs*126), and a compound heterozygous mutation c.826T&gt;A (p.Cys276Ser) and c.949delG (p.Ala317Hisfs*121). Our findings confirmed that bi\u2010allelic mutations of <jats:italic>WNT10A<\/jats:italic> were responsible for OODD and greatly expanded the mutation spectrum of OODD. For the first time, we demonstrated that bi\u2010allelic <jats:italic>WNT10A<\/jats:italic> mutations could lead to anodontia of permanent teeth, which enhanced the phenotypic spectrum of <jats:italic>WNT10A<\/jats:italic> mutations. Interestingly, we found that bi\u2010allelic mutations in the <jats:italic>WNT10A<\/jats:italic> gene preferentially affect the permanent dentition rather the primary dentition, suggesting that the molecular mechanisms regulated by WNT10A in the development of permanent teeth and deciduous teeth might be different.<\/jats:p>","DOI":"10.1002\/ajmg.a.60682","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T08:18:31Z","timestamp":1545293911000},"page":"57-64","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Distinct impacts of bi\u2010allelic <i>WNT10A<\/i> mutations on the permanent and primary dentitions in odonto\u2010onycho\u2010dermal dysplasia"],"prefix":"10.1002","volume":"179","author":[{"given":"Miao","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Prosthodontics Peking University School and Hospital of Stomatology &amp; National Clinical Research 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