ArticleJournal of assisted reproduction and genetics2024
Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.
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 6 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- 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
- Wee Kinases, Big Impact: Wee and Myt Kinases as Critical Regulators of Meiotic Progression.Journal of developmental biology · 2026Review
- Identification of FDA-Approved Drugs as Potential Inhibitors of WEE2: Structure-Based Virtual Screening and Molecular Dynamics with Perspectives for Machine Learning-Assisted Prioritization.Life (Basel, Switzerland) · 2026Article
- Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.Journal of assisted reproduction and genetics · 2025Article
- Association of WEE2 Gene Polymorphism with Fertilization Failure in Women Undergoing Intracytoplasmic Sperm Injection.International journal of women's health · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
purposeTo determine the genetic cause of infertility in two unrelated families of female patients suffering from oocyte degeneration and fertilization failure.
methodsWhole exome sequencing and Sanger sequencing were performed to identify the disease-causing genes of infertility in two unrelated female patients. Minigene experiments were conducted to confirm the effect of splice site mutations on mRNA splicing.
resultsIn two unrelated female infertility patients, a novel compound heterozygous splicing mutation (c.516-1G > T and c.877-1G > A) in PATL2 gene and a novel homozygous splicing mutation (c.1222-1G > A) in WEE2 gene were identified. Minigene splicing assays revealed that the c.516-1G > T mutation in PATL2 resulted in a deletion of 8 bases in mRNA that causes a frameshift (c.516-523delTCCCCCAG, p.P173Q fs*13). The c.877-1G > A mutation led to the skipping of exons 10 and 11 and retention of introns 8-9 in PATL2 mRNA. The c.1222-1G > A mutation resulted in the deletion of exon 9 in WEE2 mRNA, leading to an in-frame deletion of 57 amino acids in the WEE2 protein (p.408-464del).
conclusionOur study discovered novel splicing mutations in PATL2 and WEE2, further expanding the mutation spectrum of these two genes and providing guidance for genetic counseling and diagnosis of female infertility.
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