Figure 1.
(A)–(D). Full face and profile views of the facial features in two unrelated children with PKS. (E)–(G). Swirly hypo- and hyperpigmentation of the skin in 3 children with PKS. (H)–(J). Broad first toes in 3 children with PKS.
Table 1.
Sample/mosaic ratio information.
Figure 2.
Patient and control sample clustering.
Red squares/circles represent PKS patients and Green squares/circles represent control samples. (A) Unsupervised clustering of 26 samples using all genes. (B) Unsupervised clustering of 26 samples using genes located on 12p.(C) PCA result. Proportion of Variance % (PC1-24.818, p 0.001; PC2-17.814, p 0.022; PC3-0.022, p 0.772).
Figure 3.
Gene expression levels in PKS.
a: Mosaic 12p expression level correlation: Average expression of 171 genes on 12p in patients and controls. Red bars are patients and Grey is controls. X-axis represents samples and Y-axis shows average expression of genes on 12p. b: Level of i12p mosaicism compared to 12p gene expression: average of 64 genes with expression higher than the 3rd quartile of global expression distribution, were correlated to mosaicism%. The blue line in the figure is the fitting line of linear regression. Red diamonds are the probands and green are the controls.
Table 2.
List of upregulated genes on 12p in PKS probands.
Figure 4.
BOX plot of HOX gene clusters.
HOX A is down- and HOX B Cluster is up-regulated in PKS patients.
Figure 5.
Ingenuity pathway analysis of dysregulated genes in PKS.
Green circles represent the genes down-regulated in PKS probands, and red circles represent the genes up-regulated in PKS probands.
Figure 6.
Schematic illustration of disease mechanism of PKS.