Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK.
Nature Genetics (Impact Factor: 29.65). 08/2008; 40(8):949-51. DOI: 10.1038/ng.187
Source: PubMed

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.