{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:21:31Z","timestamp":1790626891098,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T00:00:00Z","timestamp":1375401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Based on studies in animals and humans, <jats:italic>PAX3<\/jats:italic> and <jats:italic>T<\/jats:italic> (<jats:italic>brachyury<\/jats:italic>) are candidate genes for spina bifida. However, neither gene has been definitively identified as a risk factor for this condition.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>Sanger sequencing was used to identify variants in all <jats:italic>PAX3<\/jats:italic> and <jats:italic>T<\/jats:italic> exons and promoter regions in 114 spina bifida cases. For known variants, allele frequencies in cases were compared with those from public databases using unadjusted odds ratios. Novel variants were genotyped in parents and assessed for predicted functional impact.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>We identified common variants in <jats:italic>PAX3<\/jats:italic> (n\u2009=\u20092) and <jats:italic>T<\/jats:italic> (n\u2009=\u20093) for which the allele frequencies in cases were significantly different from those reported in at least one public database. We also identified novel variants in both <jats:italic>PAX3<\/jats:italic> (n\u2009=\u200911) and <jats:italic>T<\/jats:italic> (n\u2009=\u20091) in spina bifida cases. Several of the novel <jats:italic>PAX3<\/jats:italic> variants are predicted to be highly conserved and\/or impact gene function or expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>These studies provide some evidence that common variants of <jats:italic>PAX3<\/jats:italic> and <jats:italic>T<\/jats:italic> are associated with spina bifida. Rare and novel variants in these genes were also identified in affected individuals. However, additional studies will be required to determine whether these variants influence the risk of spina bifida. <jats:italic>Birth Defects Research (Part A) 97:597\u2013601, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23163","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T09:54:03Z","timestamp":1375437243000},"page":"597-601","source":"Crossref","is-referenced-by-count":18,"title":["Exon sequencing of <i>PAX3<\/i> and <i>T<\/i> (<i>brachyury<\/i>) in cases with spina bifida"],"prefix":"10.1002","volume":"97","author":[{"given":"A.J.","family":"Agopian","sequence":"first","affiliation":[{"name":"Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences University of Texas School of Public Health Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela D.","family":"Bhalla","sequence":"additional","affiliation":[{"name":"Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences University of Texas School of Public Health Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boerwinkle","sequence":"additional","affiliation":[{"name":"Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences University of Texas School of Public Health Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Finnell","sequence":"additional","affiliation":[{"name":"Dell Pediatric Research Institute, Department of Nutritional Sciences University of Texas at Austin Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan L.","family":"Grove","sequence":"additional","affiliation":[{"name":"Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences University of Texas School of Public Health Houston 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