In silico Analysis of Common Autism Spectrum Disorder Genetic Risk Variations
Sabritee Patel
and Poonam Sharma*Department of Zoology, Gargi College, University of Delhi, Delhi, India.
Corresponding Author E-mail: poonam.sharma@gargi.du.ac.in
Abstract: Autism spectrum disorder (ASD) is a chronic neurological and developmental disability characterised by inability to develop social relationships, trouble expressing feelings, and repeated behaviours - clinically defined as stereotyped behaviour - that affect how people interact, learn, and behave. Because of the vast range of types and severity of symptoms, it is classified as a "spectrum" disorder. Over the last two decades, the prevalence of ASD has progressively increased, and one out of every 160 children worldwide is estimated to have an ASD. Over 75 percent of ASD patients show psychiatric disorders like depression, stress, bipolar disorder, Tourette syndrome, attention deficit hyperactivity disorder (ADHD). In the present study, in silico analysis was done to identify different rare mutations in genes implicated in ASD. Single nucleotide polymorphisms in ADNP, ARID1B, ASH1L, CHD2, CHD8, DYRK1A, POGZ, SHANK3, and SYNGAP1 genes were identified to be associated with ASD aetiology. A single mutation in these genes can result in defective chromatin remodeling, altering the function of several genes and potentially causing intellectual impairment and autism spectrum disorder (ASD). Understanding and analyzing these SNPs linked to ASD as risk factors can aid in the early detection and diagnosis of the disorder.
Keywords: Autism spectrum disorder; Chromatin remodeling; Histone methylation; Mutation; SNPs Back to TOC