To investigate whether the autism spectrum disorder-associated CHD7 intronic variant affects neural development, researchers established human embryonic stem cells carrying this variant using CRISPR/Cas9 methods and found that the level of CHD7 mRNA significantly decreased compared to control.
[Neuroscience Bulletin]
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Zhang, R., He, H., Yuan, B., Wu, Z., Wang, X., Du, Y., Chen, Y., & Qiu, Z. (2021). An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience Bulletin. https://doi.org/10.1007/s12264-021-00685-w Cite