Copy Number Variants: Deletion and Duplication Syndromes

Annu Rev Genomics Hum Genet. 2025 Apr 25. doi: 10.1146/annurev-genom-121222-120601. Online ahead of print.

ABSTRACT

Rare genetic variants have illuminated mechanisms of common diseases and have even led to novel treatment approaches. Some copy number variants (CNVs) have been associated with extraordinary risk for complex neuropsychiatric phenotypes and thus offer a valuable entry point for investigating the biological mechanisms and pathways underlying autism, intellectual disability, and schizophrenia, among other neuropsychiatric disorders. For example, cellular and animal models of multiple CNVs have identified mitochondrial dysregulation as a key pathway underlying these disorders. In the clinic, there is a growing potential for improving the quality of life of individuals affected by these rare variants. Early targeted intervention leveraging data from robust clinical studies will be critical for providing patients and their families with the best possible outcomes. In this review, we highlight the current challenges and opportunities in the field of neurodevelopmental CNV research in both the lab and the clinic.

PMID:40279632 | DOI:10.1146/annurev-genom-121222-120601