ArticleJournal of assisted reproduction and genetics2024
Novel PATL2 variants cause female infertility with oocyte maturation defect.
Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- MATR3 is essential for oocyte growth and maturation quality through a dual molecular mechanism.eLife · 2026Article
- 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
- Identification of two novel PATL2 variants and transcriptome sequencing reveals their role in oocyte maturation.Journal of ovarian research · 2026Article
- Article
- Dynamic Transcriptomic Profiling of the HPG Axis Reveals Stage-Specific Regulatory Networks Underlying Natural Sex Change in Orange-Spotted Grouper (Epinephelus coioides).Marine biotechnology (New York, N.Y.) · 2026Article
- Functional and clinical evidence for two novel heterozygousFrontiers in endocrinology · 2026Article
- Compound heterozygous variants inFrontiers in medicine · 2026Article
- NADH supplementation improves human oocyte maturation and developmental competence of resulting embryos in controlled ovarian hyperstimulation cycles: a pilot study implicating the CDK2/GAS6 signaling pathway.Frontiers in endocrinology · 2025Article
- PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.Cell & bioscience · 2024Article
- Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures.Journal of assisted reproduction and genetics · 2024Article
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Authors and funding
9 authors.
Funding
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Abstract
purposeOocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes. Compound heterozygous or homozygous PATL2 mutations have been associated with oocyte arrest at the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stages, as well as morphological changes.
methodsIn this study, we recruited three OOMD cases and conducted a comprehensive multiplatform laboratory investigation.
resultsWhole exome sequence (WES) revealed four diagnostic variants in PATL2, nonsense mutation c.709C > T (p.R237*) and frameshift mutation c.1486_1487delinsT (p.A496Sfs*4) were novel mutations that have not been reported previously. Furthermore, the pathogenicity of these variants was predicted using in silico analysis, which indicated detrimental effects. Molecular dynamic analysis suggested that the A496S variant disrupted the hydrophobic segment, leading to structural changes that affected the overall protein folding and stability. Additionally, biochemical and molecular experiments were conducted on cells transfected with wild-type (WT) or mutant PATL2 (p.R237* and p.A496Sfs*4) plasmid vectors.
conclusionsThe results demonstrated that PATL2
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