{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T15:53:16Z","timestamp":1762444396698},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,6,24]],"date-time":"2013-06-24T00:00:00Z","timestamp":1372032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,5]]},"abstract":"The role of interferon regulatory factor 6 (IRF6<\/jats:styled-content><\/jats:italic>) gene mutations in causing Van der Woude syndrome (VWS<\/jats:styled-content>) and poplyteal pterygium syndrome has been described in different populations worldwide. The former is one of the major syndromes of cleft lip and\/or cleft palate (CL\/P) with the distinct phenotype of presence of pits with or without sinuses on the lower lip. We identified seven probands withVWS<\/jats:styled-content>from Punjab province of Pakistan and recognized two previously unreported lip pit phenotypes. The mutational analysis ofIRF6<\/jats:styled-content><\/jats:italic>in this cohort revealed four novel and two previously reported mutations. The newly identified mutations include three frameshifts (c.635delG<\/jats:styled-content>; c.21_33del13; c.627delC<\/jats:styled-content>) and one transition mutation (c.2T>C) affecting the first codon ofIRF6<\/jats:styled-content><\/jats:italic>. Together with a past epidemiological study onVWS<\/jats:styled-content>in Pakistan, the frequency of this syndrome amongCL<\/jats:styled-content>\/P individuals from Punjab was calculated to be 1.17%.<\/jats:p>","DOI":"10.1111\/cge.12207","type":"journal-article","created":{"date-parts":[[2013,5,28]],"date-time":"2013-05-28T18:44:22Z","timestamp":1369766662000},"page":"487-491","source":"Crossref","is-referenced-by-count":10,"title":["Novel lip pit phenotypes and mutations ofIRF6<\/scp><\/i>in Van der Woude syndrome patients from Pakistan"],"prefix":"10.1111","volume":"85","author":[{"given":"S.","family":"Malik","sequence":"first","affiliation":[{"name":"Department of Microbiology and Molecular Genetics University of the Punjab Lahore Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.R.","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Department of Biology Brigham Young University Provo UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Naz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,6,24]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"81","article-title":"A preliminary gene map for the Van der Woude syndrome critical region derived from 900\u2009kb of genomic sequence at 1q32\u2013q41","volume":"10","author":"Schutte BC","year":"2000","journal-title":"Genome Res"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.009274"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn381"},{"key":"e_1_2_6_6_1","first-page":"187","article-title":"Hare lip and cleft palate\u2014genetic contribution","volume":"5","author":"Cervenka J","year":"1963","journal-title":"Acta Chir Plast"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01375.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.17.e88"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/26.1.17"},{"key":"e_1_2_6_12_1","first-page":"247","article-title":"Van der Woude syndrome; variable penetrance of a novel mutation (p.Arg84Gly) of the IRF6 gene in a Turkish family","volume":"15","author":"Item CB","year":"2005","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313786"},{"key":"e_1_2_6_14_1","first-page":"22014507","article-title":"Van der Woude syndrome: an unrecognised clinical entity","author":"Abbo O","year":"2011","journal-title":"Ann Chir Plast Esthet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33048"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1997)034<0261:RBLLFA>2.3.CO;2"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318197a49a"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12207","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T08:19:21Z","timestamp":1715415561000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,24]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/cge.12207"],"URL":"https:\/\/doi.org\/10.1111\/cge.12207","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,24]]}}}