Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures - PubMed
4 hours ago
- #chromatinopathies
- #neurodevelopmental disorders
- #DNA methylation
- Chromatinopathies are neurodevelopmental disorders caused by variants in chromatin-regulating genes.
- A study of 400 individuals combined whole-exome sequencing and DNA methylation profiling.
- 17% had variants in chromatinopathy genes, including 55 novel ones.
- 43% of those tested showed specific DNA methylation episignatures.
- Methylation data helped reclassify uncertain variants and expand the epigenomic atlas.
- The integration of genomic and epigenomic approaches improves diagnosis.