Gatad2b, Associated with the Neurodevelopmental Syndrome GAND, Plays a Critical Role in Neurodevelopment and Cortical Patterning

To study mechanisms of pathogenesis for GATA zinc finger domain containing 2B (GAND), scientists characterized a mouse model harboring an inactivating mutation in Gatad2b. Homozygous Gatad2bmutants died perinatally, while haploinsufficient Gatad2b mice exhibited behavioral abnormalities resembling the clinical features of GAND patients.