title: Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.
abstract: Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.
authors.affiliation: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: S G
authors.initials: SG
authors.lastname: Kant
authors.forename: A M
authors.initials: AM
authors.lastname: van der Weij
authors.forename: W
authors.initials: W
authors.lastname: Oostdijk
authors.forename: J M
authors.initials: JM
authors.lastname: Wit
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: D J G
authors.initials: DJ
authors.lastname: Mackay
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019175:DNA Methylation; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D014310:Triplets / Q000235:genetics*