Fig. 2.

Quantitative RT-PCR assessment of target genes identified in microarray analysis. Fold changes in mRNA expression of genes highlighted in the microarray were assessed in dermal fibroblasts isolated from four BCS patients with different mutations: ZNF469 c.5353C>T, ZNF469 c.2150delT, PRDM5 c.1765C>T, and PRDM5 Δ exons 9–14. mRNA levels were normalized to GAPDH expression, and the fold change is displayed relative to 4 individually age, sex and ethnicity matched control fibroblast lines. The y axis represents fold changes (log10) in gene expression and the x axis the target assessed. Transcripts assessed were Clusterin (CLU), Glypican-6 (GPC6), Procollagen C-endopeptidase enhancer 2 (PCOLCE2) and Thrombospondin (THBS1). Error bars represent the standard error of the mean (n = 18 independent experiments). For each of the four genes assessed, transcript levels were significantly reduced and assessed by one-way ANOVA and Bartlett's post-test comparison (p < 0.0001).