Fig. 6.

FMR1 5hmC levels anti-correlate with FXS patient disease severity. a FMR1 locus representation with indicated assay location (Additional file 9: Table S2 and Additional file 10: Table S3). b–d Linear regression analysis of indicated molecular assays (5mC vs 5hmC) and ABC-C clinical score endpoints in eight FXS patients PBMC samples. The coefficient of determination denoted RSq and the p value are indicated. The dots gradient coloring represents the mRNA expression level for each sample, black for the highest expression level, and light grey for the lowest level. Aberrant Behavior Checklist (ABC-C) (sub)-scores (the higher, the more severe). All results from linear regression analyses are available from Additional file 8: Table S6