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), 949-951. (doi:10.1038/ng.187).
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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.
|Digital Object Identifier (DOI):||doi:10.1038/ng.187|
|Keywords:||report, laboratories, dna, pedigree, mutation, genome, human, diabetes, genetics|
|Subjects:||Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine
|Divisions:||University Structure - Pre August 2011 > School of Medicine
|Date Deposited:||27 Oct 2008|
|Last Modified:||31 Mar 2016 12:42|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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