Topic: Koolen-de Vries syndrome

Koolen-de Vries syndrome (KdVS) is a rare genetic disorder marked by intellectual disability and epilepsy, resulting from haploinsufficiency of KANSL1. This gene encodes a scaffolding protein within the non-specific lethal (NSL) complex which is crucial for histone modifications. The NSL complex regulates the expression of housekeeping, DNA repair, and autophagy genes. Autophagy, a pivotal process delivering cytoplasmic material to the lysosome for degradation, plays a key role in brain development and homeostasis maintenance; defects in autophagy have been linked to neurodevelopmental disorde

Koolen-de Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, and congenital malformations in multiple organ systems, including the brain. KdVS is caused by haploinsufficiency of KANSL1, a gene encoding a protein involved in chromatin remodeling during interphase and microtubule stabilisation during mitosis. KANSL1 is widely expressed in early development, but its role in early brain formation is not characterized. Using patient and genetically-edited induced pluripotent stem