Congenital mirror movements are associated with defective polymerisation of RAD51.

Oriane Trouillard Pauline Dupaigne Margaux Dunoyer Mohammed Doulazmi Morten Krogh Krogh Herlin Solène Frismand Audrey Riou Véronique Legros Guillaume Chevreux Xavier Veaute Didier Busso Isabelle Dusart Cécile Saint-Martin Aurélie Méneret Alain Trembleau Caroline Dubacq Emmanuel Roze

Published in: Journal of medical genetics (2023)

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.

Keyphrases

dna repair
dna damage
gene expression
minimally invasive
transcription factor