Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann ThomasElzem YapiciJet BliekArrate PeredaMatthias BegemannSilvia RussoPierpaola TannorellaLuciano CalzariGuiomar Perez de NanclaresPaola LombardiI Karen TempleDeborah MackayAndrea RiccioMasayo KagamiTsutomu OgataPablo LapunzinaDavid MonkEamonn R MaherZeynep TümerPublished in: Clinical epigenetics (2022)
Genomic maternal effect and foetal variants causing MLID allow insights into the mechanisms behind the imprinting cycle of life, and the spatial and temporal function of the different factors involved in oocyte maturation and early development. Further basic research together with identification of new MLID families will enable a better understanding of the link between the different reproductive issues such as recurrent miscarriages and preeclampsia in maternal effect variant carriers/families and aneuploidy and the MLID observed in the offsprings. The current knowledge can already be employed in reproductive and genetic counselling in specific situations.