Irina Nuca

Jun 2, 2023 | frontiersin.org | Daniel Grinberg |Sarah Reinhard |Irina Nuca

IntroductionFragile X syndrome (FXS), an X-linked disorder, is the most common cause of intellectual disability. Repeats of CGG trinucleotides 5 to 40 in the 5′-UTR of the FMR1 gene exist in the normal population; however, over 200 repeats will lead to the development of the disease. FMR1 gene amplification, methylation, and transcriptional silencing lead to a loss of FMRP function.