Bioinformatic Analysis of CHD8 Gene Polymorphisms as a High-Risk Factor in Autism Spectrum Disorder (ASD)

Articles in Press

Document Type : Research Paper

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Department of Cellular & Molecular Biology, Faculty of Chemistry, University of Kashan, Kashan, Iran

10.22038/mjms.2025.83114.4789

Abstract

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects people's social communication, interactions and behavior. ASD is not a single disorder but a combination of genetic and environmental factors. ASD-related genes mainly encode proteins involved in synaptic structure and function, cell proliferation, and transcriptional regulation. The purpose of this bioinformatic analysis is to provide a summary of CHD8 gene mutations that are associated with ASD.
Method: This study has investigated harmful mutations in CHD8 gene using 5 bioinformatics tools (SIFT, Polyphen-2, HOPE, Panther and Provean). SNP information was collected from dbSNP and protein sequence from NCBI and Unoprot, and I-Mutant tool was used to predict protein stability.
Results: According to the bioinformatics analysis performed on the CHD8 gene, out of the 500 known mutations in this gene, only 11 mutations were predicted to be harmful in all analysis server (tools), which were analyzed and analyzed in the form of statistical charts.
Conclusion: CHD8 gene analysis revealed 34 dangerous SNPs, 11 of which were identified as the most harmful. Among them, SNP rs372717272 (P791L mutation) was identified as the most deleterious mutation, which is highly conserved and affects protein stability.
Keywords: ASD, Autism, Mutation, SNP, CHD8

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Medical Journal of Mashhad university of Medical Sciences

Articles in Press, Accepted Manuscript
Available Online from 06 September 2025

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