{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T22:36:05Z","timestamp":1790116565381,"version":"4.0.1"},"reference-count":45,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,8,17]]},"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the aetiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this study, the authors investigated the frequency of chromosomal anomalies and copy number variants (CNVs) in 256 parent\u2013child trios of CDH using clinical conventional cytogenetic and microarray analysis. The authors also selected a set of CDH related training genes to prioritise the genes in those segmental aneuploidies and identified the genes and gene sets that may contribute to the aetiology of CDH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The authors identified chromosomal anomalies in 16 patients (6.3%) of the series including three aneuploidies, two unbalanced translocation, and 11 patients with de novo CNVs ranging in size from 95\u2005kb to 104.6\u2005Mb. The authors prioritised the genes in the CNV segments and identified <jats:italic>KCNA2<\/jats:italic>, <jats:italic>LMNA<\/jats:italic>, <jats:italic>CACNA1S<\/jats:italic>, <jats:italic>MYOG<\/jats:italic>, <jats:italic>HLX<\/jats:italic>, <jats:italic>LBR<\/jats:italic>, <jats:italic>AGT<\/jats:italic>, <jats:italic>GATA4<\/jats:italic>, <jats:italic>SOX7<\/jats:italic>, <jats:italic>HYLS1<\/jats:italic>, <jats:italic>FOXC1<\/jats:italic>, <jats:italic>FOXF2<\/jats:italic>, <jats:italic>PDGFA<\/jats:italic>, <jats:italic>FGF6<\/jats:italic>, <jats:italic>COL4A1<\/jats:italic>, <jats:italic>COL4A2<\/jats:italic>, <jats:italic>HOMER2<\/jats:italic>, <jats:italic>BNC1<\/jats:italic>, <jats:italic>BID<\/jats:italic>, and <jats:italic>TBX1<\/jats:italic> as genes that may be involved in diaphragm development. Gene enrichment analysis identified the most relevant gene ontology categories as those involved in tissue development (p=4.4\u00d710<jats:sup>\u221211<\/jats:sup>) or regulation of multicellular organismal processes (p=2.8\u00d710<jats:sup>\u221210<\/jats:sup>) and \u2018receptor binding\u2019 (p=8.7\u00d710<jats:sup>\u221214<\/jats:sup>) and \u2018DNA binding transcription factor activity\u2019 (p=4.4\u00d710<jats:sup>\u221210<\/jats:sup>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The present findings support the role of chromosomal anomalies in CDH and provide a set of candidate genes including <jats:italic>FOXC1<\/jats:italic>, <jats:italic>FOXF2<\/jats:italic>, <jats:italic>PDGFA<\/jats:italic>, <jats:italic>FGF6<\/jats:italic>, <jats:italic>COL4A1<\/jats:italic>, <jats:italic>COL4A2<\/jats:italic>, <jats:italic>SOX7<\/jats:italic>, <jats:italic>BNC1<\/jats:italic>, <jats:italic>BID<\/jats:italic>, and <jats:italic>TBX1<\/jats:italic> for further analysis in CDH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101135","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T19:39:25Z","timestamp":1349897965000},"page":"650-659","source":"Crossref","is-referenced-by-count":79,"title":["De novo copy number variants are associated with congenital diaphragmatic hernia"],"prefix":"10.1136","volume":"49","author":[{"given":"Lan","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Columbia University Medical Center, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Medical Center, New York, New York, 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