Several pediatric diseases are linked to mutations or dysregulation of the XIST gene. For example, Rett syndrome is a neurodevelopmental disorder that primarily affects females and is associated with mutations in the MECP2 gene located on the X chromosome. The role of XIST in X-chromosome inactivation may influence the severity and presentation of this condition. Similarly, X-linked intellectual disability and other rare genetic disorders can be influenced by disruptions in XIST function.
