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

@article{Ehrlich2001DNAM3,
  title={DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.},
  author={M. Ehrlich and K. Buchanan and F. Tsien and G. Jiang and B. Sun and W. Uicker and C. Weemaes and D. Smeets and K. Sperling and B. Belohradsky and N. Tommerup and David E. Misek and J. Rouillard and R. Kuick and S. Hanash},
  journal={Human molecular genetics},
  year={2001},
  volume={10 25},
  pages={
          2917-31
        }
}
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 heterochromatin. Microarray expression analysis was done on B-cell lymphoblastoid cell… Expand
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The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.
  • M. Ehrlich
  • Biology, Medicine
  • Clinical immunology
  • 2003
  • 187
ICF, An Immunodeficiency Syndrome: DNA Methyltransferase 3B Involvement, Chromosome Anomalies, and Gene Dysregulation
  • 137
Integrated bioinformatics analysis of epigenomic and transcriptomic data from ICF syndrome patient's cells
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
  • 20
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DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
  • 211
  • Highly Influenced
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A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
  • 9
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.
  • 144
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Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology
  • 20
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Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome
  • 31
  • Highly Influenced
Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome
  • 35
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References

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The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
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