A Student’s Perspective: Fragile-x Syndrome- Common Intellectual Disability With Genetic Inheritance
Year: 2026
Type: article
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.
Source: Genetics and Molecular Research
DOI: 10.4238/ehf4nf14
Authors: Tiya Chopra, Purva Masarankar, Dr. Usha Dave
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7218861818