ArticleHuman genetics2019
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 112 citations in OpenAlex.
- Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance.Journal of assisted reproduction and genetics · 2026Article
- Spontaneous natural conception and live birth in three patients with likely pathogenic variants in TUBB8, ZP2, and ZP3 associated with female subfertility.Journal of ovarian research · 2026Article
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- Co-Option and Conflict: The Deep Evolutionary History of ZP-Domain Proteins from ECMs to Species Barriers.International journal of molecular sciences · 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
- A preliminary investigation into the etiology of agar-like zona pellucida in human oocytes.Journal of assisted reproduction and genetics · 2026Article
- Zona pellucida is required for oocyte actin cortex and oocyte-somatic cell interactions during oocyte growth.Cell death discovery · 2026Article
- Novel variants in PABPC1L cause female infertility due to oocyte maturation defects.Journal of assisted reproduction and genetics · 2026Article
- Genetic landscape of human oocyte/embryo defects.Cell genomics · 2026Article
- Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep.Animal biotechnology · 2025Article
- Abnormal zona pellucida and follicular development inZoological research · 2025Article
- Human-specific features of the cerebellum and ZP2-regulated synapse development.bioRxiv : the preprint server for biology · 2025Article
- Crossing the barrier or how regulation of ovastacin controls fertilization and translates into clinical phenotypes.iScience · 2025Review
- A Compound Heterozygous Pathogenic Variant in ZP2 Gene Causes Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Association of blood progesterone levels on trigger day and low oocyte retrieval in cases with polycystic ovary syndrome undergoing in-vitro fertilization: A prospective cohort study.International journal of reproductive biomedicine · 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
- Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.Medicina (Kaunas, Lithuania) · 2025Review
- Formation of Blastocysts From Zona Pellucida-Free Oocytes: A Case Report on a Modified Technique in In Vitro Fertilization.Case reports in obstetrics and gynecology · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Cellular mechanisms of monozygotic twinning: clues from assisted reproduction.Human reproduction update · 2024Review
7 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
Abstract
The human zona pellucida (ZP) is an extracellular glycoprotein matrix composed of ZP1, ZP2, ZP3, and ZP4 surrounding the oocyte, and it plays an important role in sperm-egg interactions during fertilization. Structural and functional changes in the ZP can influence the process of fertilization and lead to female infertility. Previous studies have identified mutations in ZP1, ZP2, and ZP3 that lead to female infertility caused by oocyte degeneration, empty follicle syndrome, or in vitro fertilization failure. Here we describe seven patients from six independent families who had several abnormal oocytes or suffered from empty follicle syndrome, similar to the previously reported phenotypes. By whole-exome sequencing and Sanger sequencing, we identified several novel mutations in these patients. These included three homozygous mutations in ZP1 (c.1708G > A, p.Val570Met; c.1228C > T, p.Arg410Trp; c.507del, p.His170Ilefs*52), two mutations in a compound heterozygous state in ZP1 (c.1430 + 1G > T, p.Cys478X and c.1775-8T > C, p.Asp592Glyfs*29), a homozygous mutation in ZP2 (c.1115G > C, p.Cys372Ser), and a heterozygous mutation in ZP3 (c.763C > G, p.Arg255Gly). In addition, studies in CHO cells showed that the mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes. Our study expands the spectrum of ZP gene mutations and phenotypes, and provides a further understanding of the pathogenic mechanism of ZP gene mutations in vitro.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.