Topic: 17q21.31 microdeletion syndrome

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