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Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted exome sequencing in 115 affected infants from the California birth defects registry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven cases had a single heterozygous missense variant in <jats:italic>IQGAP1<\/jats:italic>, five of them with CADD scores &gt;20; seven other infants had a single heterozygous missense variant in <jats:italic>NRCAM<\/jats:italic>, five of them with CADD scores &gt;20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in <jats:italic>PDX1<\/jats:italic> and <jats:italic>FOXF1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>IQGAP1<\/jats:italic> and <jats:italic>NRCAM<\/jats:italic> are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for <jats:italic>IQGAP1<\/jats:italic> and <jats:italic>NRCAM<\/jats:italic> with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2233","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T07:22:41Z","timestamp":1693207361000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exome sequencing findings in children with annular pancreas"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0249-8298","authenticated-orcid":false,"given":"Georgia","family":"Pitsava","sequence":"first","affiliation":[{"name":"Division of Intramural Research, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Pankratz","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of Minnesota Medical School  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Lane","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of Minnesota Medical School  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Rigler","sequence":"additional","affiliation":[{"name":"Department of Neonatology Naval Medical Center Portsmouth  Portsmouth Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James L.","family":"Mills","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090040804"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03376"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200612071"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.embor867"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.377499"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2013.191"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580422"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20103016.1991.tb00728.x"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/hupa.2001.23526"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.7754"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.39.24443"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aanat.2012.04.006"},{"issue":"3","key":"e_1_2_12_15_1","first-page":"249","article-title":"Deletion 11q23 \u2192 qter (Jacobsen syndrome) associated with duodenal atresia and annular pancreas","volume":"57","author":"Fernandez Gonzalez N.","year":"2002","journal-title":"Anales Espa\u00f1oles de Pediatr\u00eda"},{"issue":"3","key":"e_1_2_12_16_1","first-page":"468","article-title":"Symptomatic adult annular pancreas: Report of two cases and a review of the literature","volume":"4","author":"Fu P. 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