Fig. 6

Meta-analysis of the transcriptomic signature identified in the ADNP brain and lymphoblasts. (A) Venn diagram representing the exact amount of DEGs in the human ADNP cerebellum and lymphoblastoid data sets, converging to an amount of 241 overlapping genes. (B) RT-PCR showing a significant decrease of IGFBP2, WNT2, SLC25A25 together with a significant increase in RUBCN and RUNX1 mRNA levels in patient brain and patient LCLs as compared to their age-matched controls. Note a difference in mRNA expression of BMP6 and METTL3 amongst brain tissue and LCLs. Expression values were normalized using the tissue-specific housekeeping genes (mentioned above). Data was subsequently analyzed with an unpaired student T-test (brain) or Mann–Whitney U test for unpaired measures (LCLs). (C) Correlation of DEGs from the NOIseq and DESeq2 analysis (RNA-seq) and RT-PCR confirmations with their functional cellular role. Selected genes are represented with their Log2FC and compared for overlap with RT-PCR. Arrow upwards, upregulation; arrow downwards, downregulation