Autism spectrum disorders (ASDs) are a highly heritable and complex group of psychiatric conditions resulting in abnormal repetitive behaviors and impairment in communication and cognitive skills in children. Recent efforts have led to unmasking some of the genetic and environmental risk factors that contribute to the manifestation of ASD. Previous studies have focused on the genetic correlation between ASDs and other neuropsychiatric disorders but an in-depth understanding of the common variants and its correlation to other disorders is required. In this study, we have conducted an extensive analysis of the common variants identified in ASDs by Genome-wide association studies (GWAS) and compared it to the consensus genes and single nucleotide polymorphisms (SNPs) of Schizophrenia (SCZ) that we have recently reported to determine the shared genetic associations in both the disorders. Further, using a meta-analytical approach we have also probed the cellular phenotypes observed in ASD and compared it to the phenotypes observed in SCZ induced pluripotent stem cell (iPSC) models. Our collective analysis of the deficits in ASD in comparison to SCZ iPSC-derived neurons indicates the presence of developmental divergent trajectories of neuronal pathophysiology that converge to similar phenotypes after the neuronal cells have matured even though the disorders share a high percentage of genetic mutations.

Seeking Convergence and Divergence between Autism and Schizophrenia using genomic tools and patients' neurons