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Article

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

Human molecular genetics - 1 Dec 2001

Ehrlich M, Buchanan K L, Tsien F, Jiang G, Sun B, Uicker W, Weemaes C M, Smeets D, Sperling K, Belohradsky B H, Tommerup N, Misek D E, Rouillard J M, Kuick R, Hanash S M

Abstract excerpt

ICF (immunodeficiency, centromeric region instability and facial anomalies) is a recessive disease caused by mutations in the DNA methyltransferase 3B gene (DNMT3B). Patients have immunodeficiency, chromosome 1 (Chr1) and Chr16 pericentromeric anomalies in mitogen-stimulated lymphocytes, a small decrease in overall genomic 5-methylcytosine levels and much hypomethylation of Chr1 and Chr16 juxtacentromeric...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11741835
DOI: 10.1093/hmg/10.25.2917

Genes

RGS1

Provenance

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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DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.PMID 11741835Read ↗

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