Topic: 15q13.3 microdeletion

Neuropsychiatric disorders affect approximately 1 in 8 people globally, stemming from a complex interplay of genetics and environment, including copy number variations like the 15q13.3 microdeletion associated with heightened risks of schizophrenia and autism. Limited medication options coupled with social, cognitive, and adaptive challenges hinder the integration of affected individuals into society due to insufficient understanding of underlying pathophysiological mechanisms. To address this, we developed a triple transgenic mouse model combining the 15q13.3+/- microdeletion with TRAP2;Ai9,

Neuropsychiatric disorders, such as schizophrenia, have a strong genetic basis and are linked to structural genomic changes such as copy number variations, including the 15q13.3 microdeletion. This study investigates the impact of the 15q13.3 microdeletion on neuronal maturation in the cerebral cortex, using a mouse model. We performed single-cell transcriptomics to analyse the transcriptomic changes in neuronal subtypes at different maturational stages. Compositional changes were validated with immunohistochemistry, while functional validation was conducted through calcium imaging and Patch-s

Developmental psychiatric disorders, including schizophrenia, autism, and ADHD, impose significant socio-economic burdens and reduce patients’ life expectancy by 10-20 years due to their early onset and chronic impact. While the genetic implication is evident, pinpointing the implicated risk genes and understanding their mechanisms remains challenging, particularly concerning their influence on brain circuitry formation. Research has spotlighted the 15q13.3 microdeletion in humans as strongly linked to various psychiatric manifestations, with Klf13 gene emerging as a key player in neuronal pre