{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T15:22:53Z","timestamp":1781623373933,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,7,8]],"date-time":"2013-07-08T00:00:00Z","timestamp":1373241600000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Neural tube defects (NTDs) are severe malformations that arise when the neural tube fails to close during embryogenesis. The planar cell polarity pathway is involved in neural tube closure and has been implicated in the pathogenesis of NTDs both in animal models and human cohorts. Dishevelled (Dvl\/Dsh) is a multi\u2010module protein and a key regulator of both the canonical Wnt and the PCP pathway. In mouse, all <jats:italic>Dvl1<jats:sup>\u2212\/\u2212<\/jats:sup>; Dvl2<jats:sup>\u2212\/\u2212<\/jats:sup><\/jats:italic> double mutants display craniorachischisis, a severe form of open NTDs. Recently, we have reported a possible role for rare variants of <jats:italic>DVL2<\/jats:italic> as risk factors for NTDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>In view of these data, we hypothesized that <jats:italic>DVL1<\/jats:italic> mutations might increase the risk for NTDs in some cases. Resequencing of the <jats:italic>DVL1<\/jats:italic> gene in a cohort of 473 NTDs patients and 150 ethnically matched controls was performed. Prediction of the downstream effects of the nonsynonymous variants was done using computational methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>We identified six missense variants that were absent in our ethnically matched controls group, and four of them (p.Arg153Cys; p.Glu544Arg; p.Arg568Trp; p.Val644Phe) were predicted to have a functional effect on protein structure by one or more bioinformatic programs. However, there was no difference in the overall rate of deleterious variants between the patients and controls (four in patients and three in controls; <jats:italic>p<\/jats:italic>\u2009=\u20090.36).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Our findings did not provide evidence for the implication of <jats:italic>DVL1<\/jats:italic> in the pathogenesis of human NTDs. <jats:italic>Birth Defects Research (Part A) 97:452\u2013455, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23157","type":"journal-article","created":{"date-parts":[[2013,7,8]],"date-time":"2013-07-08T12:13:32Z","timestamp":1373285612000},"page":"452-455","source":"Crossref","is-referenced-by-count":4,"title":["Rare missense variants in <i>DVL1<\/i>, one of the human counterparts of the <i>Drosophila dishevelled<\/i> gene, do not confer increased risk for neural tube defects"],"prefix":"10.1002","volume":"97","author":[{"given":"Elisa","family":"Merello","sequence":"first","affiliation":[{"name":"UOC Neurochirurgia, Istituto Giannina Gaslini Genova Italia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoha","family":"Kibar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology CHU Sainte Justine Research Center and University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Redouane","family":"Allache","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology CHU Sainte Justine Research Center and University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Piatelli","sequence":"additional","affiliation":[{"name":"UOC Neurochirurgia, Istituto Giannina Gaslini Genova 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