{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:46:34Z","timestamp":1790952394911,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,27]],"date-time":"2014-01-27T00:00:00Z","timestamp":1390780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"NIDCR","doi-asserted-by":"crossref","award":["K99\/R00 DE022378"],"award-info":[{"award-number":["K99\/R00 DE022378"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000072","name":"NIDCR","doi-asserted-by":"crossref","award":["DE-08559"],"award-info":[{"award-number":["DE-08559"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000072","name":"NIDCR","doi-asserted-by":"crossref","award":["DE-016148"],"award-info":[{"award-number":["DE-016148"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Orofacial clefts (<jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content>) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>) database, of which Van der Woude syndrome (<jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content>) is one of the most common (accounting for 2% of all <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content>). Popliteal pterygium syndrome (<jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content>) is considered to be a more severe form of <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content>. Mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> gene have been reported worldwide to cause <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content>. Here, we report studies of families with <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content> in sub\u2010Saharan Africa. We screened the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> of eight families with <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content> and one family with <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content> from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> (exons 3, 4, 7, and 9). For the <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content> families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice\u2010site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice\u2010site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content> family. All the mutations segregate in the families. Our data confirm the presence of <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic>\u2010related <jats:styled-content style=\"fixed-case\">VWS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content> in sub\u2010Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high\u2010risk families.<\/jats:p>","DOI":"10.1002\/mgg3.66","type":"journal-article","created":{"date-parts":[[2014,1,27]],"date-time":"2014-01-27T08:06:40Z","timestamp":1390810000000},"page":"254-260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Novel <i>IRF6<\/i> mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub\u2010Saharan Africa"],"prefix":"10.1002","volume":"2","author":[{"given":"Azeez","family":"Butali","sequence":"first","affiliation":[{"name":"Department of Oral Pathology Radiology and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Dundee Dundee Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasiu L.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"College of Medicine University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mekonen A.","family":"Eshete","sequence":"additional","affiliation":[{"name":"Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LauRen A.","family":"Gaines","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Radiology and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dee","family":"Even","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Radiology and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramat O.","family":"Braimah","sequence":"additional","affiliation":[{"name":"Obafemi Awolowo University Ile\u2010Ife Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babatunde S.","family":"Aregbesola","sequence":"additional","affiliation":[{"name":"Obafemi Awolowo University Ile\u2010Ife Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer V.","family":"Rigdon","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Radiology and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian I.","family":"Emeka","sequence":"additional","affiliation":[{"name":"College of Medicine University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olutayo","family":"James","sequence":"additional","affiliation":[{"name":"College of Medicine University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mobolanle O.","family":"Ogunlewe","sequence":"additional","affiliation":[{"name":"College of Medicine University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinola L.","family":"Ladeinde","sequence":"additional","affiliation":[{"name":"College of Medicine University of Lagos Lagos Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fikre","family":"Abate","sequence":"additional","affiliation":[{"name":"Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taye","family":"Hailu","sequence":"additional","affiliation":[{"name":"Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Addis Ababa University Addis Ababa 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C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Radiology and Medicine College of Dentistry University of Iowa Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_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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