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DNA Methylation in the Diagnosis of Monogenic Diseases.

Flavia CerratoAngela SparagoFrancesca ArianiFulvia BrugnolettiLuciano CalzariFabio CoppedèAlessandro De LucaCristina GervasiniEmiliano GiardinaFiorella GurrieriCristiana Lo NigroGiuseppe MerlaMonica MiozzoSilvia RussoEugenio SangiorgiSilvia M SirchiaGabriella Maria SqueoSilvia Maria TabanoElisabetta TabolacciIsabella TorrenteMaurizio GenuardiGiovanni NeriAndrea Riccio
Published in: Genes (2020)
DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.
Keyphrases
  • dna methylation
  • genome wide
  • high throughput
  • gene expression
  • transcription factor
  • copy number
  • single molecule
  • endothelial cells
  • cell free
  • healthcare
  • social media
  • single cell