Fig. 3

Differentially expressed genes identified in the peripheral blood samples of the probands with a missense variant Ser775Tyr in DNMT3A. A Differential gene expression profile in probands with DNMT3A mutation compared to healthy controls. Heatmap represents the expression levels of statistically significant DEGs across two patients harboring DNMT3A mutations (Patient 1 and Patient 2) and three healthy male controls (CM1, CM2, CM3). Each row corresponds to a specific gene, while each column represents an individual subject. Red indicates upregulation, blue indicates downregulation, and the intensity of the color correlates with the magnitude of expression change. Clustering on the left side groups genes with similar expression patterns. B Volcano plot of differential gene expression between DNMT3A mutation carriers and healthy controls. The x-axis represents the log2 fold change in gene expression, while the y-axis shows the negative logarithm (base 10) of the FDR. Genes with significant differential expression (FDR < 0.1) and a fold change greater than 1.5 are depicted above the horizontal dashed line and outside the vertical dashed lines, respectively