ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 108 citations in OpenAlex.
- 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
- 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 missense variants in COX15 cause oocyte degeneration and female infertility.Journal of assisted reproduction and genetics · 2026Article
- Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep.Animal biotechnology · 2025Article
- Dynamic Remodeling of the Zona Pellucida: Implications for Oocyte Competence and Assisted Reproduction.International journal of molecular sciences · 2025Review
- Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.Journal of translational medicine · 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
- Adverse Pregnancy Outcomes in an IVF Patient with Anti-Synthetase Syndrome: Insights From a Rare Case.International journal of women's health · 2025Article
- Cellular mechanisms of monozygotic twinning: clues from assisted reproduction.Human reproduction update · 2024Review
- Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures.Journal of assisted reproduction and genetics · 2024Article
- Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- A heterozygousiScience · 2023Article
- Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Frontiers of medicine · 2023Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe oocyte-borne genetic causes leading to fertilization failure are largely unknown. We aimed to identify novel human pathogenic variants (PV) and genes causing fertilization failure.
methodsWe performed exome sequencing for a consanguineous family with a recessive inheritance pattern of female infertility characterized by oocytes with a thin zona pellucida (ZP) and fertilization failure in routine in vitro fertilization. Subsequent PV screening of ZP2 was performed in additional eight unrelated infertile women whose oocytes exhibited abnormal ZP and similar fertilization failure. Expression of ZP proteins was assessed in mutant oocytes by immunostaining, and functional studies of the wild-type and mutant proteins were carried out in CHO-K1 cells.
resultsTwo homozygous s PV (c.1695-2A>G, and c.1691_1694dup (p.C566Wfs*5), respectively) of ZP2 were identified in the affected women from two unrelated consanguineous families. All oocytes carrying PV were surrounded by a thin ZP that was defective for sperm-binding. Immunostaining indicated a lack of ZP2 protein in the thin ZP. Studies in CHO cells showed that both PV resulted in a truncated ZP2 protein, which might be intracellularly sequestered and prematurely interacted with other ZP proteins.
conclusionWe identified loss-of-function PV of ZP2 causing a structurally abnormal and dysfunctional ZP, resulting in fertilization failure and female infertility.
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