FMR1

The FMR1 gene is associated with fragile X syndrome, a chromosomal disorder that causes intellectual and developmental disabilities. This gene encodes a protein called FMRP, which is crucial for synapse development and function in the brain.12

In individuals with fragile X syndrome, the FMR1 gene has an expanded number of CGG triplet repeats. This expansion leads to a deficiency or absence of FMRP, disrupting neural connections and resulting in symptoms ranging from mild learning impairment to severe intellectual disability. While primarily affecting males, about one-third of females who inherit the altered gene also show cognitive impairment. There is no cure, but therapies can help manage symptoms.123