DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome.

ABSTRACT: Klinefelter syndrome (47,XXY; KS) impacts neurodevelopment. Furthermore, KS is associated with widespread alterations in the epigenome and transcriptome. Whether these epigenetic and transcriptomic alterations can be linked to the neurocognitive phenotype remains to be elucidated. We performed a comprehensive, integrative analysis of the neurocognitive profile and the methylome in blood from males with KS (n = 65) and male controls (n = 63) (Cohort 1). The results were validated in a second cohort of males with KS (n = 22) and male controls (n = 16) in which transcriptome data was also available (Cohort 2). The findings were further validated in neural precursor cells derived from human induced pluripotent stem cells from 47,XXY (n = 3) and 46,XY (n = 3) amniotic cells. In cohort 1, we ide

SUBMITTER: Tallaksen HBL 

PROVIDER: S-EPMC12916290 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature