DNA Methylation in the Diagnosis of Monogenic Diseases

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2020 Apr 1

PMID 32224912

Citations 17

Authors

Flavia Cerrato

Angela Sparago

Francesca Ariani

Fulvia Brugnoletti

Luciano Calzari

Fabio Coppede

Alessandro De Luca

Cristina Gervasini

Emiliano Giardina

Fiorella Gurrieri

Cristiana Lo Nigro

Giuseppe Merla

Monica Miozzo

Silvia Russo

Eugenio Sangiorgi

Silvia M Sirchia

Gabriella Maria Squeo

Silvia Tabano

Elisabetta Tabolacci

Isabella Torrente

Maurizio Genuardi

Giovanni Neri

Andrea Riccio

Affiliations

Soon will be listed here.

Abstract

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.

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