ArticleJournal of assisted reproduction and genetics2025
Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes.International journal of molecular sciences · 2025Pooled it
- Novel and recurrent TUBB8 variants cause irreversible meiotic spindle defects and refractory ART failure in Chinese women with oocyte maturation arrest.Journal of assisted reproduction and genetics · 2026Article
- 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
- Identification of two novel PATL2 variants and transcriptome sequencing reveals their role in oocyte maturation.Journal of ovarian research · 2026Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
purposeThis study aimed to identify the genetic variants associated with early embryonic developmental arrest (EDA) in infertile patients and to expand the genotypic and phenotypic spectrum of maternal-effect genes, including PATL2, WEE2, and TUBB8, which are critical for oocyte maturation arrest (OMA) and fertilization failure (FF) as previously reported.
methodsWhole-exome sequencing was performed on 84 unrelated patients who experienced multiple in vitro fertilization and embryo transfer failures due to EDA. The effects of the variants in arrested embryos were assessed by morphological observations. Variants in PATL2, WEE2, and TUBB8 were confirmed by Sanger sequencing, followed by bioinformatic analysis, structural modeling of proteins, and functional assays.
resultsWe identified seven variants in five patients, including five novel variants (PATL2: c.802G>C; WEE2: c.487T>A, c.1165_1168delAAAC; TUBB8: c.604A>T, c.848C>A) and two previously reported variants (PATL2: c.805C>A; TUBB8: c.322G>A). The variants were predicted to be deleterious, affecting amino acid residues that are highly conserved across species. In vitro experiments confirmed that the PATL2 missense mutation (p.Gln269Lys) resulted in elevated mRNA levels compared to the wild type in HEK293T cells, while the WEE2 variant (p.Tyr163Asn) showed a 20.97% reduction in enzymatic activity. The patients displayed a wide range of infertility phenotypes, including OMA, FF, cleavage failure, and EDA. A literature-based analysis further highlighted the broad and variable phenotype spectrum associated with variants in these genes, enhancing our understanding of genotype-phenotype correlations.
conclusionsThis study highlights the diverse phenotypic outcomes associated with variants in PATL2, WEE2, and TUBB8. The findings provide a clearer picture of the genetic and phenotypic spectrums in patients, contributing to the advancement of molecular diagnostics in infertility.
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