Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 by 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 in Nature genetics (2008).

[PMID: 18622393] PubMed


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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