{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T21:51:06Z","timestamp":1778709066938,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Child Health and Human Development (NICHD)","award":["P01 HD068250"],"award-info":[{"award-number":["P01 HD068250"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>COUP\u2010TFII<\/jats:italic> (<jats:italic>NR2F2<\/jats:italic>) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of <jats:italic>COUP\u2010TFII<\/jats:italic> in mice result in diaphragmatic defects analogous to the human Bochdalek\u2010type hernia phenotype. Despite evidence from animal models however, mutations in the coding sequence of <jats:italic>COUP\u2010TFII<\/jats:italic> have not been reported in patients, prompting the speculation that additional coding or non\u2010coding sequences in the 15q26 locus are necessary for diaphragmatic hernias to develop. In this report, we describe a case of a patient with a heterozygous de novo <jats:italic>COUP\u2010TFII<\/jats:italic> frameshift mutation, presenting with CDH and an atrial septal defect. The p.Pro33Ala<jats:italic>fs<\/jats:italic>Ter77 mutation specifically disrupts protein isoform 1 which contains the DNA binding domain. In addition, we review other <jats:italic>COUP\u2010TFII<\/jats:italic> sequence variations and deletions that have been described in cases of CDH. We conclude that <jats:italic>COUP\u2010TFII<\/jats:italic> mutations can cause diaphragmatic hernias, and should be included in the differential diagnosis of CDH patients, particularly those with comorbid congenital heart defects. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37830","type":"journal-article","created":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T06:29:00Z","timestamp":1467354540000},"page":"2457-2461","source":"Crossref","is-referenced-by-count":46,"title":["De novo frameshift mutation in <i>COUP\u2010TFII<\/i> (<i>NR2F2<\/i>) in human congenital diaphragmatic hernia"],"prefix":"10.1002","volume":"170","author":[{"given":"Frances A.","family":"High","sequence":"first","affiliation":[{"name":"Pediatric Surgical Research Laboratories Massachusetts General Hospital Boston Massachusetts"},{"name":"Department of Pediatrics Massachusetts General Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Department of Surgery Boston Children's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pooja","family":"Bhayani","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories Massachusetts General Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jay M.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Department of Surgery Boston Children's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol J.","family":"Bult","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia K.","family":"Donahoe","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories Massachusetts General Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"},{"name":"Broad Institute of MIT and Harvard Cambridge Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Longoni","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories Massachusetts General Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.007"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35664"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20464"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4244"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.060445"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00027.2008"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2009.04.027"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/429842"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","unstructured":"LongoniM RussellMK PoberBR.2014. 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