Publications

Autism spectrum disorder (ASD) is believed to have a multifactorial aetiology involving both genetics and environmental factors. Evidence also emphasises that ASD is programmed during the in utero period, with multiple prenatal and postnatal factors influencing the epigenome and contributing to the onset of ASD.1 Disruption in the neuronal network across various developmental stages leads to neurodevelopmental disorders,2 which are characterised by dysregulated neuronal communications leading to a vast array of clinical features.3 ASD predominantly impacts an individual’s communication, behaviour and social interaction skills. The global burden of ASD is estimated to be 1 in 132 individuals.4 However, in India, where comprehensive nationwide studies are lacking, studies conducted in smaller communities reported an ASD incidence of approximately 1 in 450 individuals aged 1.5–10 years.5

The role of genetics in the aetiology of ASD has been well documented for over two decades.6 The underlying complex genetics of ASD involve a diverse array of pathological mechanisms that remain to be fully elucidated. While numerous population studies have undertaken extensive exome analyses, identifying hundreds of causal genes,7 there is limited research specifically examining Indian subjects. To address this gap, this study examines a small cohort of boys with autism from simplex families to elucidate the genetic underpinnings of ASD within the Indian population. Whole exome sequencing was conducted on 23 trio familial samples (n=69), focusing on protein-damaging inherited and de novo variants using a computational method.