Article

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in Fragile X syndrome

2024-10-22

Abstract excerpt

<h4>Background</h4> Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30-55 CGG units in length. Once the CGG repeat exceeds 200 copies it triggers methylation at the locus. This methylation covers the FMR1 promoter region and silences expression of the gene...

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Literature Corpus work: 988c4489-890d-59c0-a3c6-56e81e8ccfdd
DOI: 10.1101/2024.10.21.617801

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