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

• DOI: 10.20944/preprints202503.0169.v1
• Publication Date: 2025-03-05T05:38:46Z
• Authors: Lyudmila Belenska...; Milen Zamfirov; Tihomir Todorov; Slavena Atemin; Mila Sleptsova; Zornitsa Pavlova; Ales Maver; Borut Peterlin; Albena Todorova
• Keywords: Exome

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