ArticleHuman mutation2022
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review.Frontiers in immunology · 2023Pooled it
- Advances in bovine oocyte in vitro maturation: mechanisms and strategies.Veterinary research communications · 2026Review
- Multi-omics biomarkers in female fertility: from oocyte quality to endometrial receptivity and clinical translation.Biomarker research · 2026Review
- Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.International journal of molecular sciences · 2026Review
- Case Report: Neo-homozygous nonsense mutation in NLRP5 associated with early embryonic arrest in two sisters from a Chinese family.Frontiers in reproductive health · 2026Article
- Fluo-Cast-Bright: a deep learning pipeline for the non-invasive prediction of chromatin structure and developmental potential in live oocytes.Communications biology · 2025Article
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.Nature structural & molecular biology · 2024Article
- The subcortical maternal complex modulates the cell cycle during early mammalian embryogenesis via 14-3-3.Nature communications · 2024Article
- The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.Human molecular genetics · 2024Article
- Biallelic Recessive Mutations inHuman mutation · 2024Article
- Cordycepin delays postovulatory aging of oocytes through inhibition of maternal mRNAs degradation via DCP1A polyadenylation suppression.Cellular and molecular life sciences : CMLS · 2023Article
- Inflammasomes as regulators of non-infectious disease.Seminars in immunology · 2023Review
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.Human mutation · 2022Article
- Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The subcortical maternal complex (SCMC), composed of several maternal-effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC-encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest. In this study, we enrolled 118 Chinese patients who experienced recurrent preimplantation embryonic arrest during assisted reproductive technology treatments and performed whole-exome sequencing. We discovered compound heterozygous missense variants (c.110G>C and c.109C>G) in the OOEP gene in one patient who experienced recurrent preimplantation embryonic arrest. Arrested embryos from this affected patient were analyzed by single-cell RNA sequencing, which showed a downregulated transcriptome. In addition, six novel NLRP5 variants (c.971T>A, c.3341T>C, c.1575_1576delAG, c.1830_1831delGT, c.1202C>T, and c.2378T>G) were identified in four patients with arrested and severely fragmented embryos. These suspicious mutations were examined by in vitro studies in HEK293T cells. Western blot analysis and immunofluorescence experiments showed that OOEP and partial NLRP5 mutations caused decreased protein levels. Our findings first demonstrated that biallelic variants in OOEP gene could also cause human early embryonic arrest, similar to other SCMC components. We expanded the genetic mutation spectrum of SCMC genes related to early embryogenesis in humans, especially early embryonic arrest.
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