DNA Methylation in the Diagnosis of Monogenic Diseases.
DNA methylation
developmental delay/intellectual disability disorders
epi-signatures
genetic testing
hereditary tumors
high-throughput analysis
imprinting disorders
neuromuscular diseases
prenatal diagnosis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 03 2020
26 03 2020
Historique:
received:
21
02
2020
revised:
13
03
2020
accepted:
24
03
2020
entrez:
1
4
2020
pubmed:
1
4
2020
medline:
27
3
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32224912
pii: genes11040355
doi: 10.3390/genes11040355
pmc: PMC7231024
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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