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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Fig 1

Expression heatmaps of RNA analyzed from whole blood.

All genes are displayed that reach significance after correction for multiple testing FDR and have an FPKM above 1. Interesting dysregulated pathways and subpathways are: Regulation of apoptosis (p = 3.0 x 10–8), DNA replication, with affected sub-pathways regulation of DNA replication (p = 1.4 x 10–5), M/G1 transition (p = 5.2 x 10–5) and the synthesis of DNA (p = 2.1 x 10–4)). DNA repair is also dysregulated, especially the fanconi anemia pathway (Translocation of ub-FANCD2 and ub-FANCI to chromatin; p = 4.0 x 10–4 and regulation of the Fanconi anemia pathway 4.4 x 10–3). Also membrane trafficking is affected, especially subpathway Endosomal Sorting Complex Required For Transport (ESCRT) (p = 1.8 x10-5). The citric acid (TCA) cycle and respiratory electron transport pathway is significantly dysregulated (p = 9.3x10-6) and cellular responses to stress as well (p = 8.6 x 10–3). For signal transduction, especially signaling by Wnt is affected (p = 3.2 x 10–4).

Fig 1

doi: https://doi.org/10.1371/journal.pone.0131797.g001