Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Laura PignataFrancesco CecereAnkit VermaBruno Hay MeleMaria MonticelliBasilia AcurzioCarlo GiaccariAngela SparagoJose Ramon Hernandez MoraAna Monteagudo-SánchezManel EstellerArrate PeredaJair Tenorio-CastanoOrazio PalumboMassimo CarellaPaolo PronteraCarmelo PiscopoMaria AccadiaPablo LapunzinaMaria Vittoria CubellisGuiomar Perez de NanclaresDavid MonkAndrea RiccioFlavia CerratoPublished in: Clinical epigenetics (2022)
Our data further add to the list of the SCMC components and maternal variants that are involved in MLID, as well as of the associated clinical phenotypes. Also, we propose that in addition to rare variants, common variants may play a role in the aetiology of MLID and imprinting disorders by exerting an additive effect in combination with rarer putatively damaging variants. These findings provide useful information for the molecular diagnosis and recurrence risk evaluation of MLID-associated IDs in genetic counselling.