-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.