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Article

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.

Epigenetics - 1 Jun 2012

Heyn Holger, Vidal Enrique, Sayols Sergi, Sanchez-Mut Jose V, Moran Sebastian, Medina Ignacio, Sandoval Juan, Simó-Riudalbas Laia, Szczesna Karolina, Huertas Dori, Gatto Sole, Matarazzo Maria R, Dopazo Joaquin, Esteller Manel

Abstract excerpt

The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated to mutations of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chromosomal instability were determined as alterations driving the disease phenotype. However, so far only technologies...

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Identifiers

PMID: 22595875
DOI: 10.4161/epi.20523
PMCID: PMC3398983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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