ArticleJournal of assisted reproduction and genetics2019
Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure.
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07570342 (Comparison of Two Types of Calcium), which is not on this map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Comparison of Two Types of Calcium (Ca²⁺) Ionophore Treatments for Oocyte Activation in Cases of Suboptimal Fertilization Potential
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- 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
- A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria.Human reproduction (Oxford, England) · 2026Review
- U2AF1 modulates alternative exon selection and guards zygotic splicing activation in mouse preimplantation embryogenesis.Cellular and molecular life sciences : CMLS · 2026Article
- Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.Journal of assisted reproduction and genetics · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- Meiotic Cell Cycle Progression in Mouse Oocytes: Role of Cyclins.International journal of molecular sciences · 2023Review
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Article
- Review
- Molecular tools for the genomic assessment of oocyte's reproductive competence.Journal of assisted reproduction and genetics · 2022Review
- Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.Journal of assisted reproduction and genetics · 2022Article
- Oocyte activation deficiency and assisted oocyte activation: mechanisms, obstacles and prospects for clinical application.Human reproduction open · 2022Review
- Gene mutations associated with fertilization failure afterFrontiers in endocrinology · 2022Review
- Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization.Journal of assisted reproduction and genetics · 2021Article
- A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.Molecular genetics & genomic medicine · 2021Article
- Genetic factors as potential molecular markers of human oocyte and embryo quality.Journal of assisted reproduction and genetics · 2021Review
- Origins and mechanisms leading to aneuploidy in human eggs.Prenatal diagnosis · 2021Article
- Meiosis interrupted: the genetics of female infertility via meiotic failure.Reproduction (Cambridge, England) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
purposeTo investigate a novel mutation in the WEE2 gene in a female patient with primary infertility and fertilization failure.
methodsSanger sequencing was used to detect mutations in WEE2. The pathogenicity of the identified variant and its possible effects on the WEE2 protein were evaluated with in silico tools and molecular modeling. We used the calcium ionophore A23187 as a chemical activator of oocytes after intracytoplasmic sperm injection (ICSI).
resultsWe identified a consanguineous family with a novel homozygous missense mutation in WEE2 (c.619C>T [p.R207C]). Based on preliminary bioinformatics analysis, we speculate that the novel homozygous missense mutation is pathogenic. ICSI combined with assisted oocyte activation (ICSI-AOA) did not overcome fertilization failure in this patient with WEE2 mutation.
conclusionsWe identified a novel mutation in WEE2 (c.619C>T [p.R207C]) in a female patient with fertilization failure after ICSI, and we provide evidence that this novel homozygous missense mutation can cause fertilization failure.
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