Differential expression in patients with FA. (A) Volcano plot showing a skewed upregulation of genes in patients compared with controls (red dots, genes with a positive FC; blue dots, genes with a negative FC; black dots, genes showing no significant dysregulation at FDR < 0.05. The significantly dysregulated genes analyzed in panel B are highlighted for comparison. (B) Relative expression of a selection of dysregulated genes measured by qPCR in total RNA. Error bars represent standard deviation of the relative expression for the sample groups (either 3 controls or 3 patients). (C) PCA plot for FANC, SBDS, and DKC1 patient groups (blue spheres, FANC; yellow spheres, SBDS; red spheres, DKC1). *P < .05; **P < .01; ***P < .001; ****P < .0001.