We identified methylated tandem repeat expansions that resemble the FMR1 CGG repeat that causes fragile X syndrome and investigated their association with traits in the UK Biobank. AFF3 expansion carriers had a 2.4-fold reduced probability of completing secondary education and were enriched in a cohort of individuals with intellectual disability.
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This is a summary of: Jadhav, B. et al. A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability. Nat. Genet. https://doi.org/10.1038/s41588-024-01917-1 (2024).
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Methylated GCC repeat expansion in AFF3 associates with intellectual disability. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01918-0
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DOI: https://doi.org/10.1038/s41588-024-01918-0
