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Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X Syndrome

2025-10-27 genetic and genomic medicine Title + abstract only
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PurposeFragile X syndrome (FXS) is a hereditary genetic condition, caused by the expansion of the trinucleotide CGG repeated over 200 times (full mutation) in the 5UTR (untranslated region) regulatory region of the FMR1 gene, which leads to the absence of FMRP protein. Although the clinical standard genetic confirmation for FXS diagnosis is limited to the repeats, the use of gene sequencing techniques allowed the identification of genetic variants that occur throughout the entire FMR1 gene, incl...

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