We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
- Authors
Mackay, Deborah J G; Callaway, Jonathan L A; Marks, Sophie M; White, Helen E; Acerini, Carlo L; Boonen, Susanne E; Dayanikli, Pinar; Firth, Helen V; Goodship, Judith A; Haemers, Andreas P; Hahnemann, Johanne M D; Kordonouri, Olga; Masoud, Ahmed F; Oestergaard, Elsebet; Storr, John; Ellard, Sian; Hattersley, Andrew T; Robinson, David O; Temple, I Karen
- 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.
- Publication
Nature genetics, 2008, Vol 40, Issue 8, p949
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.187