Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach
Year: 2025
Type: article
Abstract: Introduction: Intellectual development disorder (IDD) is a heterogeneous condition, and genetic studies are essential to unravel the underlying cellular pathway for brain development and functioning in its etiology. This study aimed to investigate the possible genetic alterations contributing to IDD by performing next generation sequencing (NGS) in affected individuals and their parents, with a particular focus on the discovery of novel disease-associated genes. Methods: ) testing, were analyzed by using Trio-Whole Exome Sequencing (Trio-WES). Genomic DNA was extracted, amplicon libraries were generated, and sequencing was conducted on a NGS platform. Results: and p.(Asn1406Ser) variant in TRIO gene. Both variants were predicted to reduce protein stability and classified as "destabilizing." Conclusion: Trio-WES provided a substantial contribution to the molecular diagnosis of IDD. These findings highlight the utility of whole exome sequencing as a powerful tool for uncovering novel disease-associated genes.
Source: Nöro Psikiyatri Arşivi
DOI: 10.29399/npa.29064
Institutions: Trakya University, Hacettepe University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4414482707