Article
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
Human mutation - 1 Jan 2005
Jiang Y L, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns J P, Hultén M, Jonveaux P, Maraschio P, Mégarbané A, Moncla A, Viegas-Péquignot E
Abstract excerpt
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...
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