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Comparing Copy Number Variations and SNPs02:26

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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.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Copy number variations in cryptogenic cerebral palsy.

Reeval Segel1, Hilla Ben-Pazi2, Sharon Zeligson2

  • 1From the Medical Genetics Institute (R.S., S.Z., S.P., E.L.-L.) and Neuropediatric Unit (H.B.-P., A.A., V.G.-T.), Shaare Zedek Medical Center, Jerusalem; Pediatric Neurology Unit (A.F.-V., N.S.-S.), Dana Children's Hospital, Tel Aviv; Jerusalem Child Development Center (D.S.), Clalit, Jerusalem; Metabolic-Neurogenetic Clinic (D.L., L.B.), Wolfson Medical Center, Holon; and Biostatistical Consulting (L.D.), BioStats, Israel. reevals@szmc.org.il.

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Summary

Copy number variations (CNVs) are common in children with cerebral palsy (CP) of unknown cause. Testing for these genetic changes is recommended for diagnosing CP when the etiology is unclear.

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Cerebral palsy (CP) affects motor function and has diverse causes.
  • Approximately 20% of CP cases remain without an identified etiology.
  • Copy number variations (CNVs) are a significant source of genetic variation.

Purpose of the Study:

  • To investigate the prevalence and characteristics of CNVs in children with CP of unknown etiology.
  • To identify clinically significant CNVs associated with CP.
  • To assess the utility of CNV testing in cryptogenic CP.

Main Methods:

  • Fifty-two children with unexplained CP underwent neurologic and genetic examinations.
  • Chromosomal microarray analysis was performed to detect CNVs.
  • CNVs were classified, with pathogenic and likely pathogenic variants considered clinically significant.

Main Results:

  • Clinically significant CNVs were identified in 31% of participants.
  • Most clinically significant CNVs were de novo.
  • Dysmorphic features and nonmotor comorbidities were more common in those with significant CNVs.

Conclusions:

  • CNVs are a frequent finding in children with cryptogenic CP.
  • De novo CNVs are particularly common.
  • CNV testing is recommended for individuals with CP of unknown etiology.