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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
Human Mutation, Volume 25, No. 1, Year 2005
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Description
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. © 2004 Wiley-Liss, Inc.
Authors & Co-Authors
Jiang, Y. L.
France, Paris
Institut Jacques Monod
Rigolet, M.
France, Paris
Institut Jacques Monod
Bourc'his, D.
France, Paris
Institut Jacques Monod
Nigon, F.
France, Paris
Institut Jacques Monod
Bokesoy, I.
Turkey, Ankara
Ankara Üniversitesi
Fryns, Jean Pierré
Belgium, Leuven
Ku Leuven
Hultén, M.
United Kingdom, Coventry
University of Warwick
Jonveaux, Philippe
France, Vandoeouvre-les-nancy
Hôpital Brabois Adultes
Maraschio, P.
Italy, Pavia
Università Degli Studi Di Pavia
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Moncla, Anne
France, Marseille
Hopital la Timone
Viegas-Pequignot, Evani
France, Paris
Institut Jacques Monod
Statistics
Citations: 12
Authors: 12
Affiliations: 8
Identifiers
Doi:
10.1002/humu.20113
ISSN:
10597794
Research Areas
Genetics And Genomics
Study Design
Cohort Study