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1- Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
Aim: Neurodevelopmental disorders(NDD) are clinically and genetically heterogeneous group of diseases. It is difficult to diagnose the underlying origin of these diseases. We aim to evaluate whole exome sequencing(WES) results in our NDD patients and the responsible genetic variants.
Methods: In the study, WES analysis results of 25 NDD patients were evaluated retrospectively and the diagnostic yield of WES in our cases and clinical findings were examined.
Results: With WES analysis, we diagnosed 13(52%) of the patients with pathogenic(P) and likely pathogenic(LP) variants and 12(48%) patients remained unclear with variants of unsignificance(VUS). However, with phenotype consistence and following segregation analysis, we also evaluated 2 VUS as the disease causing variants and our yield rate increased to 60%. We also reported the secondary findings.
Conclusion: The diagnostic yield of WES in NDD was 60% in our study. The latest ACMG guideline recommends WES as the first-tier test in NDD. WES is time and cost effective when performed in well-selected patient, plus determining the underlying cause of NDD will provide more accurate diagnosis and clinical follow-up for the patients.
Type of Study: Original | Subject: Cellular and molecular Neuroscience
Received: 2023/02/1 | Accepted: 2024/02/10

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