De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Conclusion Our study establishes that de novo coding variants in AGO1 are involved in a novel monogenic form of NDD, highly similar to the recently reported AGO2-related NDD.

http://jmg.bmj.com/cgi/content/short/59/10/965?rss=1

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Schalk, A., Cousin, M. A., Dsouza, N. R., Challman, T. D., Wain, K. E., Powis, Z., Minks, K., Trimouille, A., Lasseaux, E., Lacombe, D., Angelini, C., Michaud, V., Van-Gils, J., Spataro, N., Ruiz, A., Gabau, E., Stolerman, E., Washington, C., Louie, R., L Tags: Cognitive and behavioural genetics Source Type: research