Fragile X syndrome

by cailynn on Feb 12th, 2025 08:22 AM

Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1) in both males and females with a full mutation. The subsequent lack of FMR1 protein FMRP leads to the dysregulation of hundreds of proteins that affect synaptic plasticity and connectivity in the developing brain leading to intellectual disability (ID) and other clinical features of the syndrome.