Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2005 Jan;25(1):56-63.
doi: 10.1002/humu.20113.

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Y L Jiang  1 , M Rigolet, D Bourc'his, F Nigon, I Bokesoy, J P Fryns, M Hultén, P Jonveaux, P Maraschio, A Mégarbané, A Moncla, E Viegas-Péquignot
Affiliations

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Y L Jiang et al. Hum Mutat. 2005 Jan.

Abstract

ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial abnormalities. Mutations in the catalytic domain of DNMT3B, a gene encoding a de novo DNA methyltransferase, have been recognized in a subset of patients. ICF syndrome is a genetic disease directly related to a genomic methylation defect that mainly affects classical satellites 2 and 3, both components of constitutive heterochromatin. The variable incidence of DNMT3B mutations and the differential methylation defect of alpha satellites allow the identification of two types of patients, both showing an undermethylation of classical satellite DNA. This classification illustrates the specificity of the methylation process and raises questions about the genetic heterogeneity of the ICF syndrome.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • DNA hypomethylation in cancer cells.
    Ehrlich M. Ehrlich M. Epigenomics. 2009 Dec;1(2):239-59. doi: 10.2217/epi.09.33. Epigenomics. 2009. PMID: 20495664 Free PMC article. Review.
  • DNMT3A mutations in acute myeloid leukemia.
    Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, Kandoth C, Payton JE, Baty J, Welch J, Harris CC, Lichti CF, Townsend RR, Fulton RS, Dooling DJ, Koboldt DC, Schmidt H, Zhang Q, Osborne JR, Lin L, O'Laughlin M, McMichael JF, Delehaunty KD, McGrath SD, Fulton LA, Magrini VJ, Vickery TL, Hundal J, Cook LL, Conyers JJ, Swift GW, Reed JP, Alldredge PA, Wylie T, Walker J, Kalicki J, Watson MA, Heath S, Shannon WD, Varghese N, Nagarajan R, Westervelt P, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Wilson RK. Ley TJ, et al. N Engl J Med. 2010 Dec 16;363(25):2424-33. doi: 10.1056/NEJMoa1005143. Epub 2010 Nov 10. N Engl J Med. 2010. PMID: 21067377 Free PMC article.
  • Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
    Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, Suarez F, Francastel C, Picard C. Sterlin D, et al. J Clin Immunol. 2016 Feb;36(2):149-59. doi: 10.1007/s10875-016-0240-2. Epub 2016 Feb 6. J Clin Immunol. 2016. PMID: 26851945
  • Next-generation fluorescent nucleic acids probes for microscopic analysis of intracellular nucleic acids.
    Okamoto A. Okamoto A. Appl Microsc. 2019 Nov 18;49(1):14. doi: 10.1186/s42649-019-0017-1. Appl Microsc. 2019. PMID: 33580316 Free PMC article. Review.
  • Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.
    Heyn H, Vidal E, Sayols S, Sanchez-Mut JV, Moran S, Medina I, Sandoval J, Simó-Riudalbas L, Szczesna K, Huertas D, Gatto S, Matarazzo MR, Dopazo J, Esteller M. Heyn H, et al. Epigenetics. 2012 Jun 1;7(6):542-50. doi: 10.4161/epi.20523. Epub 2012 Jun 1. Epigenetics. 2012. PMID: 22595875 Free PMC article.
See all "Cited by" articles

Publication types

Substances

LinkOut - more resources