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

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. and Temple, I. Karen (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Nature Genetics, 40, (8), pp. 949-951. (doi:10.1038/ng.187).

Record type: Article


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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Published date: August 2008
Keywords: report, laboratories, dna, pedigree, mutation, genome, human, diabetes, genetics
Organisations: Medicine


Local EPrints ID: 60010
ISSN: 1061-4036
PURE UUID: eda54e2f-aa80-4197-8eee-bdf06f2e7c6f
ORCID for Deborah J.G. Mackay: ORCID iD

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Date deposited: 27 Oct 2008
Last modified: 17 Jul 2017 14:23

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

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