Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome
2025
Pathogenic variants in MED13L cause MED13L syndrome, a well-defined neurodevelopmental disorder characterized by motor deficits, intellectual disability, and language delay, yet its underlying developmental and molecular mechanisms remain largely elusive. To address this gap, we generated a gene knockout mouse model of MED13L syndrome. While homozygous Med13l knockout exhibit neonatal lethality accompanied by reduced brain volume and cortical thickness, heterozygous mice are viable and display hallmarks of MED13L …