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Updated: Jun 29, 2025
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
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The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
Agata Kucińska1, Wanda Hawuła1, Lena Rutkowska1
1Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.
Brain Sciences
|March 28, 2024
Summary
Copy number variants (CNVs) play a key role in autism spectrum disorders (ASDs). This study found relevant CNVs in patients, particularly those with additional clinical features, underscoring the need for advanced diagnostic tools.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Genomic Medicine
Background:
- Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by social communication deficits and repetitive behaviors.
- The etiology of ASD is complex and heterogeneous, with copy number variants (CNVs) implicated as significant contributors.
- Understanding the role of CNVs is crucial for accurate ASD diagnosis and genetic counseling.
Purpose of the Study:
- To investigate the role of copy number variation in the development of isolated ASD and ASD with additional clinical features.
- To evaluate the diagnostic utility of high-resolution array-based comparative genomic hybridization (aCGH) in ASD detection.
- To identify pathogenic and likely pathogenic CNVs associated with ASD in a cohort of 180 patients.
Main Methods:
- A cohort of 180 patients diagnosed with ASD, aged 2 years 4 months to 17 years 9 months, were analyzed.
- Array-based comparative genomic hybridization (aCGH) was performed using a 4 × 180 CytoSure Autism Research Array with ~75 kb resolution.
- Genomic DNA samples were analyzed to detect copy number gains or losses.
Main Results:
- Nine pathogenic, six likely pathogenic CNVs, and 20 variants of uncertain significance (VUSs) were identified in the patient cohort.
- Relevant CNVs were found to be more prevalent in patients with ASD and additional clinical features.
- Twelve detected variants, including four likely pathogenic ones, would have been missed by standard 8 × 60 k microarrays, highlighting the sensitivity of the employed array.
Conclusions:
- High-resolution aCGH is a valuable tool for identifying clinically relevant CNVs in ASD diagnostics.
- The study confirms the importance of CNVs in ASD etiology, especially in cases with co-occurring clinical features.
- Dedicated, high-resolution genomic tools are essential for comprehensive ASD genetic evaluation, surpassing the capabilities of routine microarrays.
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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