The role of Exome Sequencing analysis in the diagnosis of patients with rare neurogenetic disorders

Introduction Diagnostic courses for neurogenetic disorders often require the use of substantial time and resources. Previous studies have shown Exome Sequencing increased diagnostic and clinical utility in medical genetics. Although genetic heterogeneity in neurogenetic disorders has been an obstacle to phenotypebased diagnostic testing, Exome Sequencing improved the presumptive diagnostic rate in patients from ۲۵% to ۴۸%. Our objective was to describe the role of Exome Sequencing in identifying novel variants in a group of patients with neurogenetic disorders. Methods A complete clinical and paraclinical examination has been done by expert specialists and clinical geneticists. The team contributed to the discovery or identifies the extremely rare disorders of disease genes using the Exome Sequencing technique followed by comprehensive bioinformatics analysis. Parents and healthy o↵spring were assessed for the candidate gene variants. Results We have found genetic variations in genes such as PI۴K۲A, OGDH, and YIF۱B with novel variants based on computational prediction using bioinformatics tools. Many of these genes are the subject of novel and unexpected genetic pathways crucial for normal brain function. At the present time, powerful sequencing techniques are identifying large numbers of genetic variants associated with unique phenotypes. Conclusion We have demonstrated that Exome Sequencing as a high throughput molecular technique has rapidly become a component of the clinical approach that requires a broad search for causal variants across the spectrum of rare Mendelian disorders.

کلیدواژه ها:

Exome Sequencing ، Genetics ، Neurogenetic disorders ، Bioinformatics analysis