Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Strongly Supports the Hypothesis for Its Genetic Basis

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, communication deficits, and the presence of repetitive, restricted behavioral patterns and interests. Recent research shows that it occurs due to the mutations related to the development of the nervous system, combined with the impact of various environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside with segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development and function such as synaptic signaling imbalance, ciliopathies, spectrins structure, neuronal organelles trafficking and integrity, gene expression, cell cycle control, mitochondrial function, and neuron homeostasis. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches.