Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease
Abstract
Objective
Method
Results
Conclusions
Overview of Copy Number Variations
Detection, Mechanisms, and Expression
Association With Disease
Review Methods
Results
Newly Identified Major CNVs and Lower-Penetrance CNVs Associated With Schizophrenia
Overall Prevalence of CNVs in Schizophrenia
CNVs Implicating Individual Genes
NRXN1
CNTNAP2
Discussion
Major Recurrent CNVs Associated With Schizophrenia
22q11.2 deletions
1q21.1 deletions
15q13.3 deletions
Smaller Individual CNVs Implicating Specific Genes
Limitations and Recommendations for Future CNV Studies
Clinical Relevance of Major CNVs Associated With Genomic Disorders
Neuropsychiatric Perspectives on Phenotype and Implications for Diagnostic Classification
Recurrent De Novo CNVs and a General Mutational Mechanism
Implications for Gene Identification
Conclusions
Acknowledgments
References
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Authors
Competing Interests
Funding Information
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