{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T03:04:42Z","timestamp":1781579082787,"version":"3.54.5"},"reference-count":15,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"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":[[2017,7]]},"abstract":"<jats:p>Van der Woude syndrome (VWS) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and lip pits. Mutations in the transcription factor interferon regulatory factor 6 gene ( IRF6) have been identified in individuals with VWS. We performed direct sequencing of the gene for molecular investigation of a proband with Bangladeshi-Malay ancestry. A novel transition mutation (c.113T&gt;C), which resulted in an amino acid substitution (p.Ile38Thr) in the deoxyribonucleic acid-binding domain was detected. Testing of family members showed that the mutation segregated with the VWS phenotype for members of her immediate family. Although there is some phenotypic variability, all of the affected members are of the female gender.<\/jats:p>","DOI":"10.1597\/15-327","type":"journal-article","created":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T14:47:34Z","timestamp":1464706054000},"page":"442-445","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family with Van der Woude Syndrome"],"prefix":"10.1177","volume":"54","author":[{"given":"Ene-Choo","family":"Tan","sequence":"first","affiliation":[{"name":"KK Research Centre, KK Women's & Children's Hospital, and Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hwee-Woon","family":"Lim","sequence":"additional","affiliation":[{"name":"KK Research Centre, KK Women's & Children's Hospital, Singapore, Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen C.P.","family":"Lim","sequence":"additional","affiliation":[{"name":"KK Research Centre, KK Women's & Children's Hospital, Singapore, Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seng-Teik","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Plastic, Reconstructive & Aesthetic Surgery, Singapore General Hospital, Singapore, Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,7,1]]},"reference":[{"key":"bibr1-15-327","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"bibr2-15-327","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.269"},{"key":"bibr3-15-327","doi-asserted-by":"publisher","DOI":"10.1159\/000313786"},{"key":"bibr4-15-327","doi-asserted-by":"publisher","DOI":"10.1242\/dev.080473"},{"key":"bibr5-15-327","unstructured":"GeneReviews. IRF6-Related Disorders. 2015. Available at http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1407\/. Accessed November 9, 2015."},{"key":"bibr6-15-327","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"bibr7-15-327","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn381"},{"key":"bibr8-15-327","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01575.x"},{"key":"bibr9-15-327","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"bibr10-15-327","unstructured":"O'NeillM.J.F. Van der Woude syndrome 2. 2014. Available at http:\/\/omim.org\/entry\/606713. 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