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Yuce Kahraman C, Kanjee M, Ercoskun P, Tatar A. Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study. BCN 2024; 15 (6) :855-864
URL: http://bcn.iums.ac.ir/article-1-2662-fa.html

Introduction: Neurodevelopmental disorders (NDDs) comprise clinically and genetically heterogeneous diseases. It is challenging to diagnose the underlying origin of NDDs. We aim to evaluate whole exome sequencing (WES) results in our NDD patients and the responsible genetic variants.
Methods: This study evaluated the WES analysis of 25 NDD patients retrospectively. Also, the diagnostic yield of WES in our cases and clinical findings were examined.
Results: After WES analysis, we diagnosed 13 patients (52%) with pathogenic and likely pathogenic variants, but 12(48%) had variants of uncertain significance (VUS). However, after phenotype consistency and following segregation analysis, we reevaluated 2 VUS as the disease-causing variants, and our yield rate increased to 60%. We also reported the secondary findings.
Conclusion: Our study’s diagnostic yield of WES in NDD was 60%. The latest American College of Medical Genetics and Genomics (ACMG) guideline recommends WES as the first-tier test in NDD. WES is time- and cost-effective when performed on a well-selected patient. Also, determining the underlying cause of NDD will provide patients with a more precise diagnosis and clinical follow-up.