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Updated: May 16, 2026
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Copy number variation in pediatric multiple sclerosis
J P McElroy1, L B Krupp, B A Johnson
1Department of Neurology, University of California at San Francisco, USA. Joseph.McElroy@OSUMC.edu
Multiple Sclerosis (Houndmills, Basingstoke, England)
|December 15, 2012
Summary
This study investigated copy number variations (CNVs) in pediatric multiple sclerosis (MS) patients. While no direct cause was found, a rare CNV linked to ARSACS disease was identified, aiding diagnosis and prognosis.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Pediatric multiple sclerosis (MS) comprises 2-4% of all MS cases.
- The underlying pathophysiology of pediatric MS versus adult MS remains unclear.
- Copy number variations (CNVs) are hypothesized to cause extreme early-onset diseases due to their potential to affect multiple genes.
Observation:
- Comparative genomic hybridization (CGH) was used to analyze 30 pediatric MS patients and their parents.
- The study focused on identifying de novo CNVs, which are newly occurred genetic variations.
- Agilent 1M CGH array was employed for high-resolution analysis.
Findings:
- Ten novel CNVs, not previously reported in the Database of Genomic Variants (DGV), were identified.
- Fifty-five putatively de novo CNVs were found, with most being common in the DGV.
- One rare, private CNV was discovered, encompassing the SACS gene, associated with autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Implications:
- This is the first study to analyze CNVs in pediatric MS.
- The identified SACS gene CNV led to the diagnosis of ARSACS-like disease alongside MS in one patient.
- The findings improve understanding of disease course and prognosis in complex pediatric neurological cases.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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