A STUDENT’S PERSPECTIVE: FRAGILE-X SYNDROME- COMMON INTELLECTUAL DISABILITY WITH GENETIC INHERITANCE

Abstract

The most prevalent inherited cause of intellectual impairment (ID) and the most prevalent monogenic cause of autism spectrum disorder (ASD) globally is fragile X syndrome (FXS), an X-linked genetic condition [1], [2]. In the 5′ untranslated region of the FMR1 gene on the X chromosome (Xq27.3), a CGG trinucleotide repeat expansion of more than 200 copies causes FXS. This expansion results in hypermethylation, transcriptional silencing, and loss of the FMR1 protein (FMRP), an RNA-binding protein necessary for synaptic development and plasticity [3], [4]. Using peer-reviewed materials published between 1991 and 2024, this review summarizes the most recent research on the genetics, epidemiology, clinical presentation, diagnosis, and treatment of FXS.