Within a family affected by intellectual disability and autism spectrum disorder, we identified biallelic missense mutations in CYFIP1. We investigated the impact of these variants on cellular models and Drosophila mutants. Our findings reveal disruptions in the wave regulatory complex, impacting critical processes such as actin polymerization and brain morphology. Notably, the fly model replicates core symptoms observed in individuals with these mutations, including social and motor coordination deficits.
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