A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome.

ABSTRACT:

Background

Infertility, as a major human reproductive health problem, affects approximately 17.5% of the global population. The emergence of assisted reproductive technology, particularly in vitro fertilization (IVF), has resolved the reproductive challenges of most infertile couples. In IVF, there exists a group of women who are unable to retrieve oocytes from typically developing follicles despite a positive response to ovarian stimulation, a condition clinically referred to as empty follicle syndrome (EFS). The pathogenesis of EFS is still unclear, but increasing evidence suggests that genetic factors play a very significant role. A clinical and experimental analysis of two pedigrees was performed in this study to investigate the genetic basis of EFS.

Methods

Genomic DNA

SUBMITTER: Wang X 

PROVIDER: S-EPMC12032726 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature