Congenital mirror movements are associated with defective polymerisation of RAD51

Conclusion
Our study demonstrates that RAD51 haploinsufficiency, including loss-of-function of non-truncating variants, results in CMM. The incomplete penetrance likely results from post-transcriptional compensation. Changes in RAD51 levels and/or polymerisation properties could influence guidance of the corticospinal axons during development. Our findings open up new perspectives to understand the role of RAD51 in neurodevelopment.

Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Trouillard, O., Dupaigne, P., Dunoyer, M., Doulazmi, M., Herlin, M. K., Frismand, S., Riou, A., Legros, V., Chevreux, G., Veaute, X., Busso, D., Fouquet, C., Saint-Martin, C., Meneret, A., Trembleau, A., Dusart, I., Dubacq, C., Roze, E. Tags: Neurogenetics Source Type: research