{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:14:36Z","timestamp":1777522476555,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>(1) To detect interferon regulatory factor 6 gene ( IRF6) mutations in newly recruited Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) families. (2) To test for association, in nonsyndromic cleft lip and\/or cleft palate (NSCL\/P) and in VWS\/PPS families, the single nucleotide polymorphism (SNP) rs642961, from the IRF6 enhancer AP-2\u03b1 region, alone or as haplotype with rs2235371, a coding SNP (Val274Ile).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>IRF6 mutation screening was performed by direct sequencing and genotyping of rs642961 and rs2235371 by TaqMan technology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>Seventy-one Swedish NSCL\/P families, 24 Finnish cleft palate (CP) families, and 24 VWS\/PPS families (seven newly recruited) were studied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Allelic and genotypic frequencies in each phenotype were compared to those of the controls, and no significant difference could be observed. IRF6 gene mutation was detected in six of the seven new VWS\/PPS families. Association analysis of the entire VWS\/PPS sample set revealed the A allele from rs642961 to be a risk allele. Significant association was detected in the Swedish CP subset of our NSCL\/P collection where the G-C haplotype for rs642961-rs2235371 were at risk ( P= .013).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results do not support the previously reported association between the A allele of rs642961 and the NSCL phenotype. However, in the VWS\/PPS families, the A allele was a risk allele and was, in a large majority (&gt;80%), transmitted on the same chromosome as the IRF6 mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/11-220","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T18:20:33Z","timestamp":1360347633000},"page":"49-55","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["Association and Mutation Analyses of the\n                    <i>IRF6<\/i>\n                    Gene in Families with Nonsyndromic and Syndromic Cleft Lip and\/or Cleft Palate"],"prefix":"10.1177","volume":"51","author":[{"given":"M.","family":"Pegelow","sequence":"first","affiliation":[{"name":"Department of Dental Medicine, Division of Orthodontics, Unit of Jaw Orthopedics, Karolinska Institutet, Huddinge, Sweden; on the Stockholm Craniofacial Team, Karolinska University Hospital, Solna, Sweden; and at the Department of Orthodontics in Eskilstuna, Folktandv\u00e5rden, S\u00f6rmland, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Koillinen","sequence":"additional","affiliation":[{"name":"Neuropediatric Unit, Rehabilitative Services, Department of Health Care and Social Services, City of Turku, Finland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Magnusson","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biophysics, Science for Life Laboratory, Stockholm University, Stockholm, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Fransson","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Unneberg","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Department of Medical Genetics, Biomedicum, University of Helsinki, Helsinki, Finland; and Science for Life Laboratory, Karolinska Institutet, Solna, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kere","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biophysics, Science for Life Laboratory, Stockholm University, Stockholm, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Karsten","sequence":"additional","affiliation":[{"name":"Department of Dental Medicine, Division of Orthodontics, Unit of Jaw Orthopedics, Karolinska Institutet, Huddinge, Sweden; and on the Stockholm Craniofacial Team, Karolinska University Hospital, Solna, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Peyrard-Janvid","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,1,1]]},"reference":[{"key":"bibr1-11-220","doi-asserted-by":"publisher","DOI":"10.1597\/09-153"},{"key":"bibr2-11-220","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318197a49a"},{"key":"bibr3-11-220","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"bibr4-11-220","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10252"},{"key":"bibr5-11-220","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201486"},{"key":"bibr6-11-220","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the Head and Neck.","author":"Gorlin R.","year":"2001"},{"key":"bibr7-11-220","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20314"},{"key":"bibr8-11-220","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20598"},{"key":"bibr9-11-220","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"bibr10-11-220","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"bibr11-11-220","first-page":"888","volume":"36","author":"Lees M.M.","year":"1999","journal-title":"J Med Genet."},{"key":"bibr12-11-220","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"bibr13-11-220","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn381"},{"key":"bibr14-11-220","doi-asserted-by":"publisher","DOI":"10.1101\/gr.4.6.357"},{"key":"bibr15-11-220","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"bibr16-11-220","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01627.x"},{"key":"bibr17-11-220","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjm097"},{"key":"bibr18-11-220","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201493"},{"key":"bibr19-11-220","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"bibr20-11-220","doi-asserted-by":"publisher","DOI":"10.1086\/427344"},{"key":"bibr21-11-220","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2010.07.036"},{"key":"bibr22-11-220","first-page":"506","volume":"52","author":"Spielman R.S.","year":"1993","journal-title":"Am J Hum Genet."},{"key":"bibr23-11-220","first-page":"115","volume":"132","author":"Staden R.","year":"2000","journal-title":"Methods Mol Biol."},{"key":"bibr24-11-220","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39079.618287.0B"},{"key":"bibr25-11-220","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/11-220","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/11-220","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/11-220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:17:45Z","timestamp":1777393065000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/11-220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1597\/11-220"],"URL":"https:\/\/doi.org\/10.1597\/11-220","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1]]}}}