Deletions and duplications, called reciprocal CNVs when they occur at the same locus, are implicated in neurodevelopmental phenotypes ranging from morphological to behavioral. In this article, we propose three models of how differences in gene expression in deletion and duplication genotypes may result in deleterious phenotypes. To explore these models, we use examples of the similarities and differences in clinical phenotypes of five reciprocal CNVs known to cause neurodevelopmental disorders: 1q21.1, 7q11.23, 15q13.3, 16p11.2, and 22q11.2. These models and examples may inform some insights into better understanding of gene-phenotype relationships. © 2018 Wiley Periodicals, Inc. Develop Neurobiol 78: 519-530, 2018.
Keywords: autism spectrum disorder; copy number variants; gene expression; neurodevelopmental disorders; phenotypes; schizophrenia.
© 2018 Wiley Periodicals, Inc.