Fig. 4
From: A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Transcriptional profiling of neonatal hearts from Chd7T720A/T720A mice. (a-b) Heat maps (a) and PCA plots (b) showing DEGs in Chd7T720A/T720A males (left) and females (right) neonatal hearts compared to Chd7+/+ (WT) controls (N = 3 per group for both WT and mutant). (c) Volcano plots highlighting the most significantly enriched pathways for DEGs determined by ORA of GO-BP gene sets in male and female Chd7T720A/T720A hearts. Key pathways such as cytoskeleton organization, lipid metabolic process, cell adhesion, and cell cycle are shown. (d) GSEA enrichment plots showing downregulation of the mitochondrial protein containing complex gene sets in homozygous Chd7T720A/T720A mouse neonatal hearts compared to those of wild type controls. The NES values are displayed for both males (NES = −3.72) and females (NES = −8.12). (e) Bar chart showing NES from GSEA of commonly disrupted pathways in male and female Chd7T720A/T720A neonatal hearts. Pathways include mitochondrial components, the inner mitochondrial membrane, and the tricarboxylic acid cycle enzyme complex.
