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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
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UNSPECIFIED. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. HUMAN MUTATION, 25 (1). pp. 56-63. ISSN 1059-7794
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Official URL: http://dx.doi.org/10.1002/humu.20113
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. (C) 2004 Wiley-Liss, Inc.
| Item Type: | Journal Article |
|---|---|
| Subjects: | Q Science > QH Natural history > QH426 Genetics |
| Journal or Publication Title: | HUMAN MUTATION |
| Publisher: | WILEY-LISS |
| ISSN: | 1059-7794 |
| Date: | 2005 |
| Volume: | 25 |
| Number: | 1 |
| Number of Pages: | 8 |
| Page Range: | pp. 56-63 |
| Identification Number: | 10.1002/humu.20113 |
| Publication Status: | Published |
| URI: | http://wrap.warwick.ac.uk/id/eprint/7525 |
Data sourced from Thomson Reuters' Web of Knowledge
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