Novel PATL2 variants cause female infertility with oocyte maturation defect.

ABSTRACT:

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.

Results

Whole exome sequence (WES) revealed four diagnostic variants in PATL2, nonsense mutation c.709C > T (p.R237*) and frameshift mutation c.1486_1487delinsT (p.A496Sfs*4) were novel mutations that have not been reported previously. Furthermore, the pathogenicity of these variants was predicted using in

SUBMITTER: Hu HY 

PROVIDER: S-EPMC11339215 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature