Expansion of the CGG trinucleotide repeat in the 5′ untranslated (UTR) region of the FMR1 gene is causative for a number of disorders including fragile X syndrome (FXS), fragile X associated tremor ataxia syndrome (FXTAS) and FMR1 related primary ovarian insufficiency (FXPOI) [1]. This evidence concerns the gene FMR1 and fragile X-associated tremor/ataxia syndrome.