{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:47:20Z","timestamp":1790970440558,"version":"4.1.0"},"reference-count":21,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:00:00Z","timestamp":1619568000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100003785","name":"Medical Scientific Research Foundation of Guangdong Province of China","doi-asserted-by":"crossref","award":["A2020261"],"award-info":[{"award-number":["A2020261"]}],"id":[{"id":"10.13039\/501100003785","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:sec>\n                    <jats:title>Aims:<\/jats:title>\n                    <jats:p>Van der Woude syndrome (VWS) is one of the most common craniofacial anomalies, causing significant functional and psychological burden to the patients. This study aimed to identify the genetic cause of VWS in a Chinese family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Whole genome sequencing\u00a0(WGS) was performed to screen for pathogenic mutations. Various Bioinformatics tools were used to assess the pathogenicity of the variants. Cosegregation analysis of the candidate variant was carried out. Interpretation of variants was performed according to the American College of Medical Genetics and Genomics guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A novel frameshift duplication c.373_374dupAA (p.Asn125Lys fs*43) was identified in exon 4 of the interferon regulatory factor 6 (IRF6) gene in all 3 affected members, which were not found in unaffected family members. The novel mutation leads to a frameshift and a premature stop codon which caused putative truncated protein. Protein alignment indicated high evolutionary conservation of the p.N125 residue, and this mutation was predicted by online tools to be damaging and deleterious.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This study demonstrates that the novel mutation c.373_374dupAA (p.Asn125Lysfs*43) in the IRF6 gene corresponds to the VWS in this family. The discovery of this pathogenic variant enriches the genotypic spectrum of IRF6 gene and contributes to genetic diagnosis and counseling of families with VWS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656211010909","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T03:31:09Z","timestamp":1619580669000},"page":"548-553","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome"],"prefix":"10.1177","volume":"59","author":[{"given":"Qi","family":"Peng","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China"},{"name":"Medical Laboratory, Dongguan Children\u2019s Hospital, Dongguan, Guangdong, China"},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyan","family":"Qin","sequence":"additional","affiliation":[{"name":"CapitalBio Technology Corporation, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siping","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China"},{"name":"Medical Laboratory, Dongguan Children\u2019s Hospital, Dongguan, Guangdong, China"},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meihua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Stomatology, Dongguan Eighth People\u2019s Hospital, Dongguan, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunbao","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China"},{"name":"Medical Laboratory, Dongguan Children\u2019s Hospital, Dongguan, Guangdong, China"},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1647-0547","authenticated-orcid":false,"given":"Xiaomei","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China"},{"name":"Medical Laboratory, Dongguan Children\u2019s Hospital, Dongguan, Guangdong, China"},{"name":"Key Laboratory for Children\u2019s Genetics and Infectious Diseases of Dongguan, Dongguan, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,4,28]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1355"},{"issue":"2","key":"e_1_3_4_3_1","first-page":"237","article-title":"Novel IRF6 mutations in Honduran Van der Woude syndrome patients","volume":"4","author":"Birkeland AC","year":"2011","unstructured":"Birkeland AC, Larrabee Y, Kent DT, Flores C, Su GH, Lee JH, Haddad JJr. Novel IRF6 mutations in Honduran Van der Woude syndrome patients. 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Mol Med Rep. 2018;17(1):1241\u20131246. doi:10.3892\/mmr.2017.7978","journal-title":"Mol Med Rep"},{"key":"e_1_3_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000003038"},{"key":"e_1_3_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"e_1_3_4_15_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_1997_034_0007_caesoc_2.3.co_2"},{"key":"e_1_3_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.009"},{"key":"e_1_3_4_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_3_4_18_1","doi-asserted-by":"publisher","DOI":"10.4317\/jced.50559"},{"key":"e_1_3_4_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.19.1.623"},{"key":"e_1_3_4_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000005552"},{"issue":"2","key":"e_1_3_4_21_1","first-page":"244","article-title":"Fistula labii inferioris congenita and its association with cleft lip and palate","volume":"6","author":"van der Woude A","year":"1954","unstructured":"van der Woude A. 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