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

Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187.

Deborah J G Mackay ¹, Jonathan L A Callaway, Sophie M Marks, Helen E White, Carlo L Acerini, Susanne E Boonen, Pinar Dayanikli, Helen V Firth, Judith A Goodship, Andreas P Haemers, Johanne M D Hahnemann, Olga Kordonouri, Ahmed F Masoud, Elsebet Oestergaard, John Storr, Sian Ellard, Andrew T Hattersley, David O Robinson, I Karen Temple

Affiliations

Affiliation

1 Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK. djgm@soton.ac.uk

PMID: 18622393 DOI: 10.1038/ng.187

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.

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