Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.

Matteo ChiaraIlaria PrimonLetizia TarantiniLuca AgnelliValentina Brancaleoni Francesca GranataValentina BollatiElena Di Pierro

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

This study confirms that intronic variants could explain the variability in the clinical manifestations of EPP. Moreover, it supports the hypothesis that the control of the FECH gene expression can be mediated through a methylation-dependent modulation of the precursor messenger RNA (pre-mRNA) splicing pattern.

Keyphrases

gene expression
dna methylation
genome wide
copy number
drug delivery
binding protein