Novel PATL2 variants cause female infertility with oocyte maturation defect.

Purpose: Oocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes. Compound heterozygous or homozygous PATL2 mutations have been associated with oocyte arrest at the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stages, as well as morphological changes.

Methods: In this study, we recruited three OOMD cases and conducted a comprehensive multiplatform laboratory investigation.