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Dergiler / Experimed / 2023 / Volume: 13 Issue: 3

Copy Number Variations in a Turkish Cohort of Children with Intellectual Disability

Deniz Sünnetçi Akkoyunlu(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0001-9297-8222
Bülent Kara(Kocaeli University, Faculty of Medicine, Department of Child Health and Diseases, Pediatric Neurology)0000-0003-3780-6596
Naci Çine(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0001-9063-1073
Seda Eren Keskin(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0002-8315-646X
Buket Doğruoğlu(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0002-1138-7680
Zeynep İlkay(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0001-7256-6992
Tolgahan Özer(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0001-5427-3811
Hakan Savlı(Kocaeli University, Faculty of Medicine, Department of Medical Genetics)0000-0003-2836-9881
Sayfa
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Yayın Tarihi
2023-12-28
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Data revealed an overall diagnostic rate of 11.43%, which confirms aCGH as the first-line technology allowing geneticists to diagnose complex phenotypes, identify candidate genes involved in ID, and explore novel CNV effects.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Objective: Intellectual disability (ID) is a complex, variable, and clinically heterogeneous neurodevelopmental disorder that affects 1% – 3% of the global population.
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Temel Bulgular & Veri:Copy number variations (CNVs) contribute to approximately 15%–20% of ID cases.
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Sonuç & Katkı:Data revealed an overall diagnostic rate of 11.43%, which confirms aCGH as the first-line technology allowing geneticists to diagnose complex phenotypes, identify candidate genes involved in ID, and explore novel CNV effects.
🔬Tür:Research Article
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Intellectual disability · copy number variation · Turkish cohort

Abstract

Objective: Intellectual disability (ID) is a complex, variable, and clinically heterogeneous neurodevelopmental disorder that affects 1% – 3% of the global population. Copy number variations (CNVs) contribute to approximately 15%–20% of ID cases. Array comparative genomic hybridization (aCGH) is the first-line test for diagnosing patients with ID with/without multiple congenital anomalies (MCAs). This study aimed to present CNVs identified in a retrospective aCGH cohort of Turkish patients with ID with/without other medical conditions. Materials and Methods: The study population consisted of 210 patients (139 male, 71 female) aged 2–18 years. aCGH analysis was performed using oligo and bacterial artificial chromosome (BAC)-based microarray platforms. CNVs were interpreted using public databases and literature mining and categorized according to international guidelines. Results: Forty-five CNVs were detected in 38 (18%) patients. Among these CNVs, 21 (46.6%) were pathogenic, 4 (8.8%) were likely pathogenic, and 8 (17.7%) were variants of uncertain clinical significance (VUS). Nineteen CNVs corresponded to rare microdeletion/ microduplication syndromes. Conclusions: This study reports rare CNVs or syndromes among Turkish patients with ID with/without other medical conditions. Data revealed an overall diagnostic rate of 11.43%, which confirms aCGH as the first-line technology allowing geneticists to diagnose complex phenotypes, identify candidate genes involved in ID, and explore novel CNV effects.

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Bu Makaleye Atıf Yap

Akkoyunlu, D. S., Kara, B., Çine, N., Keskin, S. E., Doğruoğlu, B., İlkay, Z., Özer, T., Savlı, H. (2023). Copy Number Variations in a Turkish Cohort of Children with Intellectual Disability. Experimed, Volume: 13 Issue: 3. https://doi.org/10.26650/experimed.1380210

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