Fig. 4: Genes encoding NE proteins are misregulated in FSHD and contribute to the phenotype.

a Expression changes of NE genes in strongly affected FSHD patients (group 4) compared to controls. No change in grey, change in blue (log2-FC > 0.5) and muscle disease-related genes in red. The majority of NE-associated genes is downregulated. b Expression of four disease-related NE-associated genes in the five groups (patients vs. controls) sorted after disease severity (controls in green, group 1 light green, group 2 orange, group 3 dark orange, group 4 red). Significance was measured using a t-test with controls as the reference group and is indicated by asterisks (ns = not significant; *adj. p-value < 0.05; **adj. p-value < 0.01; ***adj. p-value < 0.001; ****adj. p-value < 0.0001). FHL1, TMEM38A, and PLPP7 expression are inversely correlated to disease severity, while LMNA expression increases with severity. c Differentially expressed genes in FSHD (group 4) were compared with genes regulated by TMEM38A and PLPP7, with 716 genes potentially under their control. Adj. p-values (Holm’s method) have been calculated using the R package SuperExactTest¹²¹. d A GO term enrichment analysis of NET regulated genes shows that 716 genes fall in GO terms relevant to the FSHD pathology.