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Basic and Clinical Neuroscience، جلد ۱۵، شماره ۶، صفحات ۰-۰
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study
چکیده انگلیسی مقاله
Aim: 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 (P) and likely pathogenic (LP) variants, but 12 (48%) remained unclear with variants of insignificance (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 ACMG (American College of Medical Genetics and Genomics) 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.
کلیدواژه‌های انگلیسی مقاله Neurodevelopmental disorder, Whole exome sequencing, Developmental delay disorders, Intellectual disabilities, Congenital abnormalities
نویسندگان مقاله | Cigdem Yuce Kahraman
Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.


| Momen Kanjee
Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.


| Pelin Ercoskun
Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.


| Abdulgani Tatar
Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
نشانی اینترنتی http://bcn.iums.ac.ir/browse.php?a_code=A-10-5231-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Cellular and molecular Neuroscience
نوع مقاله منتشر شده Original
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