Identification of zona pellucida defects revealed a novel loss-of-function mutation in ZP2 in humans and rats.

ABSTRACT:

Introduction

Human zona pellucida (ZP) plays an important role in reproductive process. Several rare mutations in the encoding genes (ZP1, ZP2, and ZP3) have been demonstrated to cause women infertility. Mutations in ZP2 have been reported to cause ZP defects or empty follicle syndrome. We aimed to identify pathogenic variants in an infertile woman with a thin zona pellucida (ZP) phenotype and investigated the effect of ZP defects on oocyte gene transcription.

Methods

We performed whole-exome sequencing and Sanger sequencing of genes were performed for infertilite patients characterized by fertilization failure in routine in vitro fertilization (IVF). Immunofluorescence (IF) and intracytoplasmic sperm injection (ICSI) were used in the mutan

SUBMITTER: Zeng J 

PROVIDER: S-EPMC10244809 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature