biostudies-literatureVawter MPNIMH NIH HHSPHS HHS728-34https://www.ebi.ac.uk/biostudies/studies/S-EPMC2094046biostudies-literatureUnknown144B(6)Klinefelter's Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini-Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression-cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. OveAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsDysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition.PMC2094046R01 MH085801R21 MH074307RMH074307AVawter MPHarvey PDDeLisi LEfalseDysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition.Klinefelter's Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini-Hochberg false discovery adjustment. The DEGs included 14 X chromosome genes which were significantly over-represented. The Y chromosome had zero DEGs. In exploratory analysis of gene expression-cognition relationships, 12 DEGs showed significant correlation of expression with measures of verbal cognition in KS. Ove2007-01-01T00:00:00Z2007 Sep2026-04-07T22:11:34.133Z2019-03-27T02:22:01ZS-EPMC20940461734799610.1002/ajmg.b.30454