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Article

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.

Human molecular genetics - 15 Jul 2018

Velasco Guillaume, Grillo Giacomo, Touleimat Nizar, Ferry Laure, Ivkovic Ivana, Ribierre Florence, Deleuze Jean-François, Chantalat Sophie, Picard Capucine, Francastel Claire

Abstract excerpt

Alterations of DNA methylation landscapes and machinery are a hallmark of many human diseases. A prominent case is the ICF syndrome, a rare autosomal recessive immunological/neurological disorder diagnosed by the loss of DNA methylation at (peri)centromeric repeats and its associated chromosomal instability. It is caused by mutations in the de novo DNA methyltransferase DNMT3B in about half of the patients...

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Share to Chromosomal Instability
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29659838
DOI: 10.1093/hmg/ddy130

Genes

CDCA7
HELLS
ZBTB24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.PMID 29659838Read ↗

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