The University of Southampton
University of Southampton Institutional Repository

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

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.

Full text not available from this repository.

Citation

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).

More information

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

Identifiers

Local EPrints ID: 60010
URI: http://eprints.soton.ac.uk/id/eprint/60010
ISSN: 1061-4036
PURE UUID: eda54e2f-aa80-4197-8eee-bdf06f2e7c6f
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

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

Export record

Altmetrics

Contributors

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

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×