Rare variants of GPSM2 associated with aneuploidy-mediated recurrent spontaneous abortion: mechanistic insights from siRNA knockdown modeling of hypothesized lo... (opens in new tab)

IntroductionRecurrent spontaneous abortion (RSA) is associated with embryonic chromosomal abnormalities, yet the maternal genetic factors predisposing to the production of aneuploid gametes remain incompletely understood. Identifying germline variants that disrupt meiotic chromosome segregation may elucidate the genetic etiology of RSA.MethodsPeripheral blood DNA was collected from 100 RSA patients for whom aneuploidy of embryonic origin had been confirmed in prior miscarriage specimens, and ...