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CDH presents as a spectrum of forms and severities, with diaphragm defects arising in the dorsal\/posterior region typically correlating with more severe pulmonary disease and higher risk of mortality than those appearing in ventral\/anterior regions. The genetic etiology underlying CDH is complex, with many implicated genes showing variable expressivity and incomplete penetrance in both human patients and mouse models. Here we present in vivo validation of two genes previously unassociated with CDH: the CDC42-interacting kinase CDC42BPB; and CNOT1, a scaffolding protein of the CCR4-NOT protein complex, critical for mRNA regulation through modifications such as deadenylation. Each gene was found to have a damaging, de novo missense variant in a recent large-scale CDH patient sequencing screen. Loss of Cdc42bpb leads to ventral diaphragmatic hernias, heart septal defects, and minor lung epithelial differentiation defects in mouse embryos. Installation of the orthologous patient-specific missense variant through CRISPR\/Cas9 editing leads to less severe ventral diaphragm defects. Mouse embryos with either one or two copies of the orthologous Cnot1 variant, c.1867C\u2009&amp;gt;\u2009T (p.R623W), develop dorsal diaphragmatic hernias with low (&amp;lt;50%) penetrance, and mutants showed alterations in mRNA isoform expression consistent with the molecular role of Cnot1 in RNA splicing. These results underscore the power of in vivo functional modeling to validate genes and patient-specific variants uncovered by patient sequencing, reveal two previously unrecognized genetic causes of CDH, and highlight the heterogeneity of different patient anatomic presentations.<\/jats:p>","DOI":"10.1093\/hmg\/ddag106","type":"journal-article","created":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:26:44Z","timestamp":1791113204000},"source":"Crossref","is-referenced-by-count":0,"title":["Modeling patient variants of\n                    <i>Cnot1<\/i>\n                    and\n                    <i>Cdc42bpb<\/i>\n                    results in distinct forms of congenital diaphragmatic hernia in mice"],"prefix":"10.1093","volume":"35","author":[{"given":"Eric L","family":"Bogenschutz","sequence":"first","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Carpenter","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameleen","family":"Wong","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Palmer","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aalekh S","family":"Mehta","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories, Massachusetts General Hospital , 55 Fruit Street Boston, MA 02114 ,","place":["United 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States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9433-210X","authenticated-orcid":false,"given":"Carol","family":"Bult","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1299-5979","authenticated-orcid":false,"given":"Yufeng","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Systems Biology, Columbia University Irving Medical Center , 622 West 168th Street New York, NY 10032 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia K","family":"Donahoe","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories, Massachusetts General Hospital , 55 Fruit Street Boston, MA 02114 ,","place":["United States"]},{"name":"Department of Surgery, Harvard Medical School , 25 Shattuck Street Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel P","family":"Rowbotham","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories, Massachusetts General Hospital , 55 Fruit Street Boston, MA 02114 ,","place":["United States"]},{"name":"Department of Surgery, Harvard Medical School , 25 Shattuck Street Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances A","family":"High","sequence":"additional","affiliation":[{"name":"Pediatric Surgical Research Laboratories, Massachusetts General Hospital , 55 Fruit Street Boston, MA 02114 ,","place":["United States"]},{"name":"Department of Surgery, Boston Children\u2019s Hospital , 300 Longwood Avenue Boston, MA 02115 ,","place":["United States"]},{"name":"Department of Pediatrics, Massachusetts General Hospital , 55 Fruit Street Boston, MA 02114 ,","place":["United States"]},{"name":"Department of Pediatrics, Harvard Medical School , 25 Shattuck Street Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School , 25 Shattuck Street Boston, MA 02115 ,","place":["United States"]},{"name":"Department of Pediatrics, Boston Children\u2019s Hospital , 300 Longwood Avenue Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0594-1702","authenticated-orcid":false,"given":"Stephen A","family":"Murray","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory , 600 Main Street, Bar Harbor, ME 04609 ,","place":["United 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