Article

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

2025-10-27

Abstract excerpt

<h4>Purpose</h4> Fragile X syndrome (FXS) is a hereditary genetic condition, caused by the expansion of the trinucleotide CGG repeated over 200 times (full mutation) in the 5’UTR (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...

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Literature Corpus work: 0c8461c8-a982-57f6-b707-39185c70e8e1
DOI: 10.1101/2025.10.22.25338597

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