Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Vinod DagarWendy HutchisonAndrea MuscatAnita KrishnanDavid HokeAshley BucklePriscillia SiswaraDavid J AmorJeffrey MannJason PinnerAlison ColleyMeredith WilsonRani SachdevGeorge McGillivrayMatthew EdwardsEdwin KirkFelicity CollinsKristi JonesJuliet TaylorIan HayesElizabeth ThompsonChristopher BarnettEric HaanMary-Louise FreckmannAnne TurnerSusan WhiteBen KamienAlan MaFiona MackenzieGareth BaynamCathy Kiraly-BorriMichael FieldTracey Dudding-BythElizabeth M AlgarPublished in: Clinical epigenetics (2018)
This study is the first to examine folate pathway genetics in BWS and to identify rare DNMT1 missense variants in affected individuals. Our data suggests that reduced DNMT1 activity could affect maintenance of methylation at KCNQ1OT1 TSS-DMR in some cases of BWS, possibly via a maternal effect in the early embryo. Larger cohort studies are warranted to further interrogate the relationship between impaired MTHFR enzymatic activity attributable to MTHFR rs1801133: C>T, dietary folate intake and BWS.