title: Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
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.
authors.affiliation: Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK. djgm@soton.ac.uk
authors.forename: Deborah J G
authors.initials: DJ
authors.lastname: Mackay
authors.forename: Jonathan L A
authors.initials: JL
authors.lastname: Callaway
authors.forename: Sophie M
authors.initials: SM
authors.lastname: Marks
authors.forename: Helen E
authors.initials: HE
authors.lastname: White
authors.forename: Carlo L
authors.initials: CL
authors.lastname: Acerini
authors.forename: Susanne E
authors.initials: SE
authors.lastname: Boonen
authors.forename: Pinar
authors.initials: P
authors.lastname: Dayanikli
authors.forename: Helen V
authors.initials: HV
authors.lastname: Firth
authors.forename: Judith A
authors.initials: JA
authors.lastname: Goodship
authors.forename: Andreas P
authors.initials: AP
authors.lastname: Haemers
authors.forename: Johanne M D
authors.initials: JM
authors.lastname: Hahnemann
authors.forename: Olga
authors.initials: O
authors.lastname: Kordonouri
authors.forename: Ahmed F
authors.initials: AF
authors.lastname: Masoud
authors.forename: Elsebet
authors.initials: E
authors.lastname: Oestergaard
authors.forename: John
authors.initials: J
authors.lastname: Storr
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: David O
authors.initials: DO
authors.lastname: Robinson
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
mesh_terms: D019175:DNA Methylation; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D003920:Diabetes Mellitus / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; C531063:ZFP57 protein, human