hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...