Decreased miRNA expression in Klinefelter syndrome

Sci Rep. 2017 Nov 30;7(1):16672. doi: 10.1038/s41598-017-16892-3.


The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology. Expression profiling analysis revealed a significant differential expression of 2 miRNAs in KS compared to male controls. In particular, MIR3648 resulted significantly (q-value < 0.0001) down-regulated by -19.084- fold, while MIR3687was strongly down-regulated (q-value < 0.0001) considering KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.

MeSH terms

  • Abnormal Karyotype
  • Adult
  • Biomarkers
  • Case-Control Studies
  • Down-Regulation
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Klinefelter Syndrome / blood
  • Klinefelter Syndrome / diagnosis
  • Klinefelter Syndrome / genetics*
  • Leukocytes / metabolism
  • Leukocytes, Mononuclear
  • Male
  • MicroRNAs / genetics*
  • Middle Aged
  • Transcriptome


  • Biomarkers
  • MicroRNAs