Gene expression profiling in Klinefelter syndrome

Objective In our study,we measured RNA expression level in peripheral blood of Klinefelter's syndrome patients and normal males to investigate the relationship between gene differential expression and the clinical phenotype of Klinefelter's syndrome.Methods.In the present study,total mRNA from seven Klinefelter's syndrome patients and seven normal males were analyzed by RNA-sequencing techniques,differentially expressed genes (DEGs) were partially validated by quantitative reverse transcription PCR (qRT-PCR).Results Based on the filter thresholds of FDR ≤ 0.001 and | log2 Ratio ≥ 1 |,216 differentially expression genes (DEGs) in Klinefelter's syndrome group were detected compared with normal male controls,the difference is statistically significant.There were 9 X chromosome genes (4 ％) in the DEGs.And among them,XIST,a major regulator of the X-chromosome inactivation process; was the most significantly over-expressed gene,the remaining 207 DEGs were autosomal genes (96％).The expression of NR4A3、ZKSCAN4 、HBEGF 、EREG 、AREG 、NR4 A 2、CCR5 show the significant difference.NR4A3 is associated with the type 2 diabetes,HBEGF is mainly involved in gonadotropin secretion process,and no DGE identified from the Y chromosome.Conclusion In addition to the genes on the extra X chromosome,lots of autosomal genes were differentially expressed in Klinefelter's syndrome patients,our findings may explain the reason for the clinical phenotype diversity of Klinefelter's syndrome patients. Key words: Klinefelter syndrome ;  Expression profiles ;  RNA-seq