ArticleJournal of assisted reproduction and genetics2020
Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- Nomogram models to predict low fertilisation rate and total fertilisation failure in patients undergoing conventional IVF cycles.BMJ open · 2022Trial
- 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 recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.Journal of assisted reproduction and genetics · 2026Review
- Metaphase I-arrest oocyte with agar-like zona pellucida, abandon or not abandon?Journal of ovarian research · 2026Article
- A preliminary investigation into the etiology of agar-like zona pellucida in human oocytes.Journal of assisted reproduction and genetics · 2026Article
- Membrane Fusions During Mammalian Fertilization.Advances in experimental medicine and biology · 2026Review
- Abnormal zona pellucida and follicular development inZoological research · 2025Article
- 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
- Cellular mechanisms of monozygotic twinning: clues from assisted reproduction.Human reproduction update · 2024Review
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Article
- Effect of In Vitro Maturation of Human Oocytes Obtained After Controlled Ovarian Hormonal Stimulation on the Expression of Development- and Zona Pellucida-Related Genes and Their Interactions.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- Identification of zona pellucida defects revealed a novel loss-of-function mutation inFrontiers in endocrinology · 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
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- Novel mutations in ZP2 and ZP3 cause female infertility in three patients.Journal of assisted reproduction and genetics · 2022Article
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
purposeMutations in the zona pellucida glycoprotein genes have been reported to be associated with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP). In this study, we performed genetic analysis in the patients with female infertility due to abnormal zona pellucida and empty follicle syndrome to identify the disease-causing gene mutations in these patients.
methodsWe characterized three patients from two independent families who had suffered from empty follicle syndrome or abnormal zona pellucida. Whole exome sequencing and Sanger sequencing were used to identify the mutations in the families. Western blot was used to check the expression of wild type and mutant disease genes.
resultsWe identified two novel mutations in these patients, including a novel compound heterozygous mutation (c.507delC, p. His170fs; c.239 G>A, p. Cys80Tyr and c.241 T>C, p. Tyr81His) in ZP1 gene and a compound mutation in ZP2 gene (c.860_861delTG, p.Val287fs and c.1924 C>T, p.Arg642Ter). Expression of the mutant ZP1 protein (p. Cys80Tyr and p. Tyr81His) is significantly decreased compared with the wild-type ZP1. Other three mutations produce truncated proteins.
conclusionsOur findings expand the mutational spectrum of ZP1 and ZP2 genes associated with EFS and abnormal oocytes and provide new support for the genetic diagnosis of female infertility.
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