File:Beck–Fahrner syndrome (TET3 deficiency) vs. ADCADN vs. control - episignnatures.jpg
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Episignatures in Beck–Fahrner syndrome, compared to ADCADN and control
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| Description |
English: a. Each row represents a CpG probe (binding to each CpG site where DNA demethylation can occur), and each column represents an individual's sample. The color scale from blue to red indicates the DNA methylation level, ranging from 0 (no methylation) to 1 (fully methylated). The episignatures of Beck–Fahrner syndrome and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) display DNA hypermethylation when compared to matched controls.
b. Multidimensional scaling can distinguish episignatures of Beck–Fahrner syndrome from ADCADN and controls. TET3 variants of uncertain significance (VUS), which demonstrated hypermethylated profiles resembling those of known pathogenic TET3 mutations, were reclassified as pathological in the presence of typical features. Note: bi-allelic (BA); mono-allelic (MA) |
| Date | |
| Source |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576018/figure/Fig4/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576018/ |
| Author | Levy et al. |
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