Transcriptome analysis of intellectual disability patients with mutation in transcription factor genes. Transcriptome analysis of intellectual disability patients with mutation in transcription factor genes

In the current study, we applied whole transcriptome analysis using RNA-seq to identify biological and molecular pathways underling ID disease in families with mutation in CCNT2, CDK9, and TAF2 transcription factors. The transcriptional profile showed significant deregulation of gene expression patterns with an emphasis on genes related to neuronal and skeletal functions. Overall design: 12 blood samples were analyzed, 6 patients and 6 controls