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Article

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.

PloS one - 29 Apr 2011

Brun Marie-Elisabeth, Lana Erica, Rivals Isabelle, Lefranc Gérard, Sarda Pierre, Claustres Mireille, Mégarbané André, De Sario Albertina

Abstract excerpt

Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de...

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Identifiers

PMID: 21559330
DOI: 10.1371/journal.pone.0019464
PMCID: PMC3084872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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