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

Abstract Background 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 tri...

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Bibliographic Details
Main Authors: Grace Farmiloe, Veronika Bejczy, Elisabetta Tabolacci, Rob Willemsen, Frank Jacobs
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Journal of Neurodevelopmental Disorders
Online Access:https://doi.org/10.1186/s11689-025-09609-5
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