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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
CNVs in neuropsychiatric disorders.
1Cardiff University, MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Hadyn Ellis Building, Cardiff CF24 4HQ, UK kirov@cardiff.ac.uk.
Eleven copy number variations (CNVs) significantly elevate schizophrenia risk, affecting 2.4% of patients. These rare genetic variations also increase susceptibility to other neurodevelopmental disorders, impacting cognitive function even in unaffected individuals.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Copy number variations (CNVs) are increasingly recognized as significant genetic factors in neurodevelopmental disorders.
- Eleven specific CNVs have been strongly linked to an increased risk of developing schizophrenia.
Purpose of the Study:
- To summarize the role of specific CNVs in schizophrenia and other neurodevelopmental disorders.
- To highlight the prevalence, risk, and penetrance of these CNVs.
Main Methods:
- Review and synthesis of existing literature on copy number variations and schizophrenia risk.
- Analysis of prevalence data in schizophrenia patients and control groups.
Main Results:
- Eleven CNVs (deletions and duplications at specific loci) are associated with schizophrenia risk.
- These CNVs are rare, found in 2.4% of schizophrenia patients versus 0.5% of controls.
- CNVs are more prevalent in autism spectrum disorders (3.3%) and are associated with cognitive deficits.
Conclusions:
- Specific CNVs confer a substantial risk for schizophrenia and other neurodevelopmental disorders.
- The penetrance of these CNVs for neurodevelopmental disorders is high, and carriers often exhibit cognitive impairments.
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