{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:52:21Z","timestamp":1792129941833,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,28]],"date-time":"2020-02-28T00:00:00Z","timestamp":1582848000000},"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":["81970904"],"award-info":[{"award-number":["81970904"]}],"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":["81970923"],"award-info":[{"award-number":["81970923"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Interferon Regulatory Factor 6 (<jats:italic>IRF6<\/jats:italic>) gene encodes a member of the IRF family of transcription factors. Mutations in <jats:italic>IRF6<\/jats:italic> cause Van der Woude Syndrome (VWS), which is the most common malformation of syndromic orofacial clefts in humans.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we performed sequencing studies of six families with VWS in the Chinese Han population. The entire <jats:italic>IRF6<\/jats:italic>\u2010coding region and the exon\u2013intron boundaries including exons 3\u20138 and part of exon 9 were screened among all the collected family members by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found a novel splice site variant c.175\u20106T&gt;A, two novel missense variants (p.Lys66Arg and p.Pro107Thr), in addition with a previously reported missense variant (p.Leu87Phe), which were all located in and nearby exon 4 of <jats:italic>IRF6<\/jats:italic>. Meanwhile, a novel frameshift variant p.G257Vfs*46 in exon 7 of <jats:italic>IRF6<\/jats:italic> was also detected. All the mutations presented to be co\u2010segregated in each family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study has advanced the understanding of the genetic architecture of VWS and provides the basis for genetic counseling, antenatal diagnosis, and gene therapy of high risk groups.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1196","type":"journal-article","created":{"date-parts":[[2020,2,28]],"date-time":"2020-02-28T15:07:28Z","timestamp":1582902448000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel <i>IRF6<\/i> mutations in Chinese Han families with Van der Woude syndrome"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4817-5769","authenticated-orcid":false,"given":"Yanqin","family":"Yu","sequence":"first","affiliation":[{"name":"State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yatao","family":"Wan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Analytical Chemistry for Biology and Medicine (Ministry of Education) College of Chemistry and Molecular Sciences State Key Laboratory of Virology, Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanqi","family":"Qin","sequence":"additional","affiliation":[{"name":"State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitang","family":"Yue","sequence":"additional","affiliation":[{"name":"State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[{"name":"State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8255-8072","authenticated-orcid":false,"given":"Miao","family":"He","sequence":"additional","affiliation":[{"name":"State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37791"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.66"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1597\/14-030"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318197a49a"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/871460"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313786"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050203"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.4103\/0976\u2010237X.137961"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.141"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(09)60695\u20104"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.009"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(81)90090-4"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/26.1.17"},{"key":"e_1_2_8_20_1","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen S.","year":"2000","journal-title":"Methods in Molecular Biology"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1597\/15\u2010327"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000005552"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102105\u201011\u2010548"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2018.04.008"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1196","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:45:08Z","timestamp":1708512308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,28]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/mgg3.1196"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1196","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,28]]},"assertion":[{"value":"2020-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1196"}}