Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization

15q11.2 Deletions and duplications have been linked to autism spectrum disorder (ASD), schizophrenia, and intellectual disability (ID). Recent evidence suggests that dysfunctional Cytoplasmic FMR1 Interacting Protein 1 (CYFIP1) contributes to the clinical phenotypes observed in individuals with 15q11.2 deletion/duplication syndrome. CYFIP1 plays crucial roles in neuronal development and brain connectivity, promoting actin polymerization and regulating local protein synthesis. However, the impact of single nucleotide variants in CYFIP1 to neurodevelopmental disorders is limited.

Source: Biological Psychiatry - September 11, 2023 Category: Psychiatry Authors: Vittoria Mariano, Alexandros K. Kanellopoulos, Carlotta Ricci, Daniele Di Marino, Sarah C. Borrie, Sebastian Dupraz, Frank Bradke, Tilmann Achsel, Eric Legius, Sylvie Odent, Pierre Billuart, Thierry Bienvenu, Claudia Bagni Tags: Archival Report Source Type: research