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


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).

Download

Full text not available from this repository.

Description/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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1038/ng.187
ISSNs: 1061-4036 (print)
Keywords: report, laboratories, dna, pedigree, mutation, genome, human, diabetes, genetics
Subjects:
ePrint ID: 60010
Date :
Date Event
August 2008Published
Date Deposited: 27 Oct 2008
Last Modified: 16 Apr 2017 17:33
Further Information:Google Scholar
URI: http://eprints.soton.ac.uk/id/eprint/60010

Actions (login required)

View Item View Item