Monoallelic de novo variants in DDX17 cause a 2 neurodevelopmental disorder
DDX17 is an RNA helicase and plays a critical role in early phases of neuronal differentiation.
The researchers show that individuals with monoallelic DDX17 mutations display neurodevelopmental and behavioral alterations similar to those observed in mouse and Xenopus models following DDX17 loss of function.
The authors observed reduced axon outgrowth in various animal models with DDX17 deficiency and statistically significant number of differentially expressed genes.
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae320/7822581
