DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
Hum Mutat
; 25(1): 56-63, 2005 Jan.
Article
en En
| MEDLINE
| ID: mdl-15580563
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Craneofaciales
/
Metilación de ADN
/
ADN (Citosina-5-)-Metiltransferasas
/
Síndromes de Inmunodeficiencia
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Francia