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Among candidate genes for these phenotypes is <jats:italic>IRF6<\/jats:italic>. However, genetic studies do not analyze dental agenesis as a phenotype associated with cleft. Therefore, we investigated the frequency of rare and novel variations in <jats:italic>IRF6<\/jats:italic> in subjects with non\u2010syndromic unilateral cleft lip and palate (NSUCLP), with and without dental agenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Genomic DNA samples of 100 subjects with NSUCLP with and without dental agenesis and 50 controls were sequenced. <jats:italic>IRF6<\/jats:italic> mutational screening was conducted by direct sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ten new and rare missense variations were identified, two in the group cleft with agenesis and eight in the group cleft without agenesis, and none were found in control group. In silico analysis revealed four variations as potentially deleterious, being two in the group with cleft and agenesis and two in the group with cleft without agenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study identified novel <jats:italic>IFR6<\/jats:italic> variations in subjects with NSUCLP with or without associated dental agenesis. The hypothesis of a higher frequency of deleterious variations in the subjects with cleft associated with dental agenesis, when compared to the group of cleft without agenesis and control without cleft, was not supported.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12975","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T20:59:00Z","timestamp":1536440340000},"page":"223-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel rare variations in <i>IRF6<\/i> in subjects with non\u2010syndromic cleft lip and palate and dental agenesis"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4137-0334","authenticated-orcid":false,"given":"Lucimara T.","family":"Neves","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"},{"name":"Post\u2010Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1655-4425","authenticated-orcid":false,"given":"Thiago J.","family":"Dion\u00edsio","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4507-5148","authenticated-orcid":false,"given":"Thais F.","family":"Garbieri","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviane A.","family":"Parisi","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7534-0876","authenticated-orcid":false,"given":"Fernanda V.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3460-3144","authenticated-orcid":false,"given":"Thais M.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Post\u2010Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo Bauru Brazil"},{"name":"Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0405-3500","authenticated-orcid":false,"given":"Carlos F.","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Bauru School of Dentistry University of S\u00e3o Paulo Bauru Brazil"},{"name":"Post\u2010Graduation Program in Rehabilitation Sciences, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo Bauru Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1597\/08-275.1"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2015.02.023"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1208"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"issue":"2","key":"e_1_2_8_7_1","first-page":"237","article-title":"Novel IRF6 mutations in Honduran Van der Woude syndrome patients","volume":"4","author":"Birkeland A. 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