ArticleFrontiers in genetics2023
Case report: A novel homozygous variant in ZP3 is associated with human empty follicle syndrome.
Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- A novel mutation in ZP3 causes human ovulatory dysfunction and oocyte maturation arrest.Journal of ovarian research · 2025Article
- A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome.Journal of ovarian research · 2025Article
- Acrosomal Matrix Proteins sp56 and AM67 and Gamete Adhesion in Mammals.Academia biology · 2025Article
- True empty follicle syndrome is a subtype of oocyte maturation abnormalities.Turkish journal of obstetrics and gynecology · 2024Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Empty follicle syndrome (EFS) is a rare condition in female infertility. It is characterized by the inability to retrieve oocytes from visibly large, normally developing follicles in the ovaries, despite ovarian stimulation. The genetic factors contributing to this syndrome remain unclear. This study focused on patients who underwent three consecutive ovarian stimulation procedures for oocyte retrieval but experienced unsuccessful outcomes, despite the presence of observable large follicles. Ultrasound examinations were conducted to assess follicular development during each procedure. In order to investigate potential genetic causes, we performed whole exome sequencing on peripheral blood samples from the patient. Interestingly, we identified that this patient carries a homozygous mutation in the
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