Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation Arrest.

ABSTRACT: Background: Oocyte maturation arrest is a disease that produces immature oocytes and cannot be mature after culturing in vitro, which leads to female primary infertility. We aimed to summarize nine representative patients in our center to retrospectively analyze the genetic variants and clinical characteristics of oocyte maturation arrest. Methods: This study examined and analyzed nine families with oocyte maturation arrest. Whole-exome sequencing (WES) of the probands was performed to detect the pathogenic variants. Sanger sequencing verified the WES findings in patients and available parents. ExAC database was used to search the variant frequency. The variants were assessed by pathogenicity and conservational property prediction analysis and according to the American

SUBMITTER: Huo M 

PROVIDER: S-EPMC8819080 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature