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

ABSTRACT:

Background

Triploidy is one of the most common chromosome abnormalities affecting human gestation and accounts for an important fraction of first-trimester miscarriages. Triploidy has been demonstrated in a few cases of recurrent pregnancy loss (RPL) but its molecular mechanisms are unknown. This study aims to identify the genetic cause of RPL associated with fetus triploidy.

Methods

We investigated genomic imprinting, genotyped sequence-tagged site (STS) markers and performed exome sequencing in a family including two sisters with RPL. Moreover, we evaluated oocyte maturation in vivo and in vitro and effect of the candidate protein variant in silico.

Results

While features of hydatidiform mole were excluded, the presence of triploidy of maternal origin was demonstrat

SUBMITTER: Fatemi N 

PROVIDER: S-EPMC8551973 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature