Cross-Platform Validation of 15q13.3 Microdeletion Network Effects in Human Neurons

Heterozygous copy number variants are highly penetrant and pleiotropic deletions or duplications that confer risk to a variety of neuropsychiatric disease (1). Among these, 15q13.3 microdeletions ( ∼1.5–2.0 Mbp) result in developmental/intellectual disability, schizophrenia, autism spectrum disorder, and epilepsy, among other conditions, affecting a core set of 7 protein-coding genes (CHRNA7, FAN1, TRPM1, KLF13, OTUD7A, MTMR10, and ARHGAP11B), and 1 microRNA (MIR211) (2). While previous st udies nominated candidate genes to explain the psychiatric symptoms associated with the microdeletion, the network effects of the gene cluster have yet to be explored under a human neuronal model.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Early Career Investigator Commentary Source Type: research