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CHARGE syndrome is caused in most cases by mutations in the CHD7 gene.
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SUPPORTED
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10 sources for · 0 against
Is it true that CHARGE syndrome is caused in most cases by mutations in the CHD7 gene?
Yes. Multiple reference and peer-reviewed sources state that CHARGE syndrome is caused by CHD7 mutations in most cases, with Wikipedia and a 2010 review citing roughly two thirds of cases.
Verdict: SUPPORTED · 10 sources for, 0 against · Last checked
Evidence for · 10
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CHARGE syndrome. (n.d.). en.wikipedia.org. https://en.wikipedia.org/wiki/CHARGE_syndrome
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More for · 9
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CHARGE syndrome. (n.d.). purl.obolibrary.org. http://purl.obolibrary.org/obo/DOID_0050834
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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. (n.d.). cir.nii.ac.jp. https://doi.org/10.1136/jmg.2010.087106
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Wu, X., Wu, X., Wu, X., Chen, L., Lu, W., & He, S. (2022). Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome. doi.org. https://doi.org/10.3389/fgene.2022.852429
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CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome. (n.d.). cir.nii.ac.jp. https://doi.org/10.1111/j.1399-0004.2008.01107.x
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SR, L., AM, S., SD, F., KG, H., C, T., LE, P., JD, M., RA, G., LD, W., M, H., SL, D., JM, G., CA, B., NL, G., JA, T., WJ, C., SR, N., AE, L., & JW, B. (2006). Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.. doi.org. https://doi.org/10.1086/500273
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Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report. (n.d.). cir.nii.ac.jp. https://doi.org/10.1186/s12902-023-01373-8
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Wu, J., Huang, Z., Zhu, B., Zou, R., Tan, Y., & Yao, W. (2025). De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review. doi.org. https://doi.org/10.1186/s12887-025-06251-x
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CHARGE Syndrome: Symptoms & Causes. (n.d.). my.clevelandclinic.org. https://my.clevelandclinic.org/health/diseases/23472-charge-syndrome
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A, G., Á, M., M, D. C. C., MC, J., D, C., & LM, B. (2026). Spinal Involvement in Charge Syndrome: Implications for Management.. doi.org. https://doi.org/10.1002/ajmg.a.70279
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