Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Nat Genet
; 40(8): 949-51, 2008 Aug.
Article
de En
| MEDLINE
| ID: mdl-18622393
ABSTRACT
We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. This is the first description of a heritable global imprinting disorder that is compatible with life.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Facteurs de transcription
/
Empreinte génomique
/
Méthylation de l'ADN
/
Diabète
/
Protéines de liaison à l'ADN
/
Mutation
Type d'étude:
Risk_factors_studies
Limites:
Humans
/
Newborn
Langue:
En
Journal:
Nat Genet
Sujet du journal:
GENETICA MEDICA
Année:
2008
Type de document:
Article
Pays d'affiliation:
Royaume-Uni