{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T18:28:42Z","timestamp":1723832922163},"reference-count":28,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,10,10]],"date-time":"2014-10-10T00:00:00Z","timestamp":1412899200000},"content-version":"unspecified","delay-in-days":282,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Van der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2\u00b76 million combined SNP and CNV markers. We found CNVs affecting <jats:italic>IRF6<\/jats:italic>, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the <jats:italic>IRF6<\/jats:italic> region. The duplications and deletions of the chromosomal critical region in 1q32\u2013q41 confirm the involvement of CNVs in <jats:italic>IRF6<\/jats:italic> in South Indian VWS patients. Molecular network analysis of these and other cleft lip\/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in <jats:italic>IRF6<\/jats:italic> in causing VWS in the Indian population.<\/jats:p>","DOI":"10.1017\/s0016672314000159","type":"journal-article","created":{"date-parts":[[2014,10,13]],"date-time":"2014-10-13T05:50:15Z","timestamp":1413179415000},"source":"Crossref","is-referenced-by-count":2,"title":["Genome-wide copy number scan identifies <i>IRF6<\/i> involvement in Van der Woude syndrome in an Indian family"],"prefix":"10.1155","volume":"96","author":[{"given":"DINESH S.","family":"MANJEGOWDA","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MANU","family":"PRASAD","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AVINASH M.","family":"VEERAPPA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NALLUR B.","family":"RAMACHANDRA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2014,10,10]]},"reference":[{"key":"S0016672314000159_ref22","first-page":"244","article-title":"Fistula labii inferioris congenita and its association with cleft lip and palate","volume":"6","author":"Van der Woude","year":"1954","journal-title":"American Journal of Human Genetics"},{"key":"S0016672314000159_ref28","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.198"},{"key":"S0016672314000159_ref24","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.47"},{"key":"S0016672314000159_ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"S0016672314000159_ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0089-0"},{"key":"S0016672314000159_ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1011-3"},{"key":"S0016672314000159_ref14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002932"},{"key":"S0016672314000159_ref18","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp201"},{"key":"S0016672314000159_ref21","doi-asserted-by":"publisher","DOI":"10.1038\/nature02168"},{"key":"S0016672314000159_ref25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32199"},{"key":"S0016672314000159_ref8","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3677206"},{"key":"S0016672314000159_ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nature08516"},{"key":"S0016672314000159_ref27","first-page":"38","article-title":"The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function","volume":"1","author":"Warde-Farley","year":"2010","journal-title":"Nucleic Acids Research"},{"key":"S0016672314000159_ref17","doi-asserted-by":"publisher","DOI":"10.1038\/ng1847"},{"key":"S0016672314000159_ref15","doi-asserted-by":"publisher","DOI":"10.4103\/0970-4388.66749"},{"key":"S0016672314000159_ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32219"},{"key":"S0016672314000159_ref20","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-31"},{"key":"S0016672314000159_ref1","unstructured":"Affymetrix, Inc. 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