期刊
DEVELOPMENTAL NEUROBIOLOGY
卷 78, 期 5, 页码 519-530出版社
WILEY
DOI: 10.1002/dneu.22587
关键词
copy number variants; neurodevelopmental disorders; gene expression; phenotypes; autism spectrum disorder; schizophrenia
资金
- International Mental Health Research Organization
- Simons Foundation [SFARI 345471]
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. (c) 2018 Wiley Periodicals, Inc. Develop Neurobiol 78: 519-530, 2018
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