{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T10:16:46Z","timestamp":1787912206829,"version":"build-2784847793"},"reference-count":64,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T00:00:00Z","timestamp":1670371200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019462","name":"Saban Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019462","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the <jats:italic>CHD7<\/jats:italic> gene. Animal models have been generated to mimic CHARGE syndrome; however, heart defects are not extensively described in zebrafish disease models of CHARGE using morpholino injections or genetic mutants. Here, we describe the co-occurrence of craniofacial abnormalities and heart defects in zebrafish <jats:italic>chd7<\/jats:italic> mutants. These mutant phenotypes are enhanced in the maternal zygotic mutant background. In the <jats:italic>chd7<\/jats:italic> mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in <jats:italic>chd7<\/jats:italic> mutants. Many CHARGE patients have aortic arch anomalies. It should be noted that the aberrant branching of the first branchial arch artery is observed for the first time in <jats:italic>chd7<\/jats:italic> fish mutants. To understand the cellular mechanism of CHARGE syndrome, neural crest cells (NCCs), that contribute to craniofacial and cardiovascular tissues, are examined using <jats:italic>sox10:Cre<\/jats:italic> lineage tracing. In contrast to its function in cranial NCCs, we found that the cardiac NCC-derived mural cells along the ventral aorta and aortic arch arteries are not affected in <jats:italic>chd7<\/jats:italic> mutant fish. The <jats:italic>chd7<\/jats:italic> fish mutants we generated recapitulate some of the craniofacial and cardiovascular phenotypes found in CHARGE patients and can be used to further determine the roles of CHD7.<\/jats:p>","DOI":"10.3389\/fcell.2022.1030587","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T06:56:43Z","timestamp":1670396203000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome"],"prefix":"10.3389","volume":"10","author":[{"given":"Yuhan","family":"Sun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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