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In \u223c30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway. Mutations in these genes affect diaphragm development and can have pleiotropic effects on pulmonary and cardiac development. New therapies, including fetal endoscopic tracheal occlusion and prenatal transplacental fetal treatments, aim to normalize lung development and pulmonary vascular tone to prevent and treat lung hypoplasia and pulmonary hypertension, respectively. Studies of the association between particular genetic mutations and clinical outcomes should allow us to better understand the origin of this birth defect and to improve our ability to predict and identify patients most likely to benefit from specialized treatment strategies.<\/jats:p>","DOI":"10.1242\/dmm.028365","type":"journal-article","created":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T09:20:11Z","timestamp":1501665611000},"page":"955-970","source":"Crossref","is-referenced-by-count":174,"title":["Congenital diaphragmatic hernias: from genes to mechanisms to therapies"],"prefix":"10.1242","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2144-4463","authenticated-orcid":false,"given":"Gabrielle","family":"Kardon","sequence":"first","affiliation":[{"name":"Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1875-8931","authenticated-orcid":false,"given":"Kate G.","family":"Ackerman","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics (Critical Care) and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642,\u2008USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"McCulley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Wisconsin,\u00a0Madison, WI 53792, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Systems Biology, Columbia University Medical Center, New York, NY 10032,\u2008USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Columbia University Medical Center,\u2008New York, NY 10032,\u2008USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linshan","family":"Shang","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Columbia University Medical Center,\u2008New York, NY 10032,\u2008USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Bogenschutz","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA"},{"name":"Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2021042612281075900_DMM028365C1","doi-asserted-by":"publisher","first-page":"2037","DOI":"10.1161\/CIR.0000000000000329","article-title":"Pediatric pulmonary hypertension: guidelines from the american heart association and american thoracic society","volume":"132","author":"Abman","year":"2015","journal-title":"Circulation"},{"key":"2021042612281075900_DMM028365C2","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1371\/journal.pgen.0010010","article-title":"Fog2 is required for normal diaphragm and lung development in mice and humans","volume":"1","author":"Ackerman","year":"2005","journal-title":"PLoS Genet."},{"key":"2021042612281075900_DMM028365C3","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1165\/rcmb.2006-0211RC","article-title":"Gata4 is necessary for normal pulmonary lobar development","volume":"36","author":"Ackerman","year":"2007","journal-title":"Am. 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