Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.

Nayeralsadat FatemiNajmeh SalehiLaura PignataPietro PalumboMaria Vittoria CubellisFariba RamazanaliPierre F RayMaryam VarkianiFakhreddin Reyhani-SabetAlireza BiglariAngela SparagoBasilia AcurzioOrazio PalumboMassimo CarellaAndrea Riccio Mehdi Totonchi

Published in: Journal of medical genetics (2020)

Here, we report a family in which a damaging variant in cyclin B3 is associated with the failure of oocyte meiosis II and recurrent fetus triploidy, implicating a rationale for CCNB3 testing in RPL.

Keyphrases

cell cycle
intellectual disability
cell cycle arrest
birth weight
cell proliferation
physical activity
autism spectrum disorder