Wnt/ß-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders

Based on a transcriptomic and functional approach, we performed ex-vivo studies on fibroblasts originated from a patient with Intellectual Disability and Autism Spectrum Disorders (ID-ASD) carrying a nonsense de novo mutation in CSDE1. The aim is to decipher the CSDE1-dependent biological pathways involved in the pathophysiology of ID-ASD. We identified the Wnt/ß-catenin pathway and cell adhesion as two deregulated cellular pathways deregulated in the ID-ASD patient. Overall design: We performed RNA-seq analysis on fibroblasts from the ID-ASD patient presenting a CSDE1 haploinsufficiency and compared them to three healthy individuals. By analysis of the gene expression , we identified the deregulated pathways in the patient's fibroblasts and confirmed the deregulation by specific cellular assays.