ISSN : 2663-2187

Genetic Variants Associated with Neurodevelopmental Disorders: From Bench to Bedside

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Dr. Dilip D. Hinge,Dr. Vinit N. Deshmukh,Patil SR
» doi: 10.48047/AFJBS.6.14.2024.4571-4583

Abstract

Neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) present significant challenges due to their complex genetic underpinnings. This study aimed to identify genetic variants associated with these disorders and assess their clinical impact. We analyzed genetic data from 400 cases (200 ASD, 200 ID) and 200 controls, identifying several key variants. Notably, Variant A was strongly associated with ASD, Variant B with ID, and Variant C with both disorders. Statistical analysis revealed significant differences in variant frequencies between cases and controls, with Variant C linked to the highest severity scores. Protein domain mapping indicated that these variants disrupt critical domains, providing insight into their pathogenic mechanisms. These findings enhance our understanding of the genetic basis of ASD and ID, offering potential targets for future research and therapeutic development. This study underscores the importance of genetic screening in diagnosing and managing neurodevelopmental disorders.

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