ArticleJournal of assisted reproduction and genetics2021
A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Pooled it
- Empty Follicle Syndrome: Current Therapeutic Approaches and the Role of Triggering Agents in Assisted Reproductive Technology.Medical sciences (Basel, Switzerland) · 2026Review
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- A Compound Heterozygous Pathogenic Variant in ZP2 Gene Causes Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 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
- Ovastacin: An oolemma protein that cleaves the zona pellucida to prevent polyspermy.Clinical and experimental reproductive medicine · 2023Article
- Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review.Reproductive biology and endocrinology : RB&E · 2022Review
- Review
- Novel mutations in ZP2 and ZP3 cause female infertility in three patients.Journal of assisted reproduction and genetics · 2022Article
- Zona Pellucida Genes and Proteins: Essential Players in Mammalian Oogenesis and Fertility.Genes · 2021Review
- Case Report: A Novel HeterozygousFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo identify a pathogenic gene mutation in a female infertility proband characterized by empty follicle syndrome (EFS) and explore the genetic cause of EFS.
methodsWhole exome sequencing (WES) was performed to identify the candidate pathogenic mutation. Sanger sequencing was used to validate the mutation in family members. The pathogenicity of the identified variant and its possible effects on the protein were evaluated with in silico tools. Immunofluorescence staining was used to study the possible mechanism of the mutation on affected oocyte.
resultsWe identified a family with a novel homozygous nonsense mutation in zona pellucida 1 (ZP1) (c.199G > T [p.Glu67Ter]). Based on bioinformatics analysis, the mutation was predicted to be pathogenic. This variant generates a premature stop codon in exon 2 at the 199th nucleotide, and was inferred to result in a truncated ZP1 protein of 67 amino acids at the ZP-N1 domain. An in vitro study showed that the oocyte of the EFS proband was degenerated and the zona pellucida was absent. Additionally, the mutant ZP1 proteins were localized in the cytoplasm of the degenerated oocyte but not at the surface.
conclusionsThe novel mutation in ZP1 is a genetic cause of female infertility characterized by EFS. Our finding expands the genetic spectrum for EFS and will help justify the EFS diagnosis in patients.
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