Abstract
Fragile X syndrome (FXS) is a rare genetic disease, with an estimated prevalence of 1-5:10,000, associated with mild to severe intellectual disability. It is caused by the transcriptional silencing of the FMR1 gene, located in Xq27.3, due to the expansion and subsequent methylation of trinucleotide (CGG) repeats in the 5'-untranslated genic region. This project aims to investigate the imp…