Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome
Our results suggest that TET3 is a candidate factor responsible for the lack of methylation of the expanded FMR1 locus. Further analyses are needed to further elucidate this relationship, however given its potential to directly interact with CGG repeats and its ambiguous role in 5-hydroxy-methylation of CG containing sequences, TET3 is a strong candidate for further exploration.
Authors
- Rob Willemsen (ORCID: https://orcid.org/0000-0002-0443-619X)
- Grace Farmiloe (ORCID: https://orcid.org/0000-0001-8047-3112)
- Elisabetta Tabolacci (ORCID: https://orcid.org/0000-0002-4707-2242)
- Frank M. J. Jacobs (ORCID: https://orcid.org/0000-0003-4423-1479)
- Veronika Bejczy
Institutions
- Netherlands Institute for Neuroscience (NL)
- Erasmus MC (NL)
- Agostino Gemelli University Polyclinic (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Catholic University of America (US)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1186/s11689-025-09609-5
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Research Council