ArticleMolecular genetics & genomic medicine2020
Novel mutations in the PLCZ1 gene associated with human low or failed fertilization.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.International journal of molecular sciences · 2024Pooled it
- PLCZ1 gene mutation leads to fertilization disorder: a case report.JBRA assisted reproduction · 2025Article
- A Novel PLCζ Mutation Linked to Male Factor Infertility Induces a Gain-of-Function Effect on CaInternational journal of molecular sciences · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Novel PLCZ1 compound heterozygous mutations indicate gene dosage effect involved in total fertilisation failure after ICSI.Reproduction (Cambridge, England) · 2024Article
- Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.Asian journal of andrology · 2024Article
- Molecular Mechanism of Oocyte Activation in Mammals: Past, Present, and Future Directions.Biomolecules · 2024Review
- High rate of detected variants in maleHuman reproduction open · 2024Article
- Phospholipase C Zeta 1 (PLCZ1): The Function and Potential for Fertility Assessment and In Vitro Embryo Production in Cattle and Horses.Veterinary sciences · 2023Review
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Novel mutations inFrontiers in cell and developmental biology · 2023Article
- Plcz1 Deficiency Decreased Fertility in Male Mice Which Is Associated with Sperm Quality Decline and Abnormal Cytoskeleton in Epididymis.International journal of molecular sciences · 2022Article
- Article
- SPERM FACTORS AND EGG ACTIVATION: Phospholipase C zeta (PLCZ1) and the clinical diagnosis of oocyte activation deficiency.Reproduction (Cambridge, England) · 2022Review
- Gene mutations associated with fertilization failure afterFrontiers in endocrinology · 2022Review
- Novel mutations in the PLCZ1 gene associated with human low or failed fertilization.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFertilization failure (FF) is a complex reproductive disorder characterized by the failure of pronuclei formation during fertilization. In addition to some cases caused by iatrogenic problems and known genetic factors, there are still many unexplained aspects of FF. Here, we aimed to assess the clinical and genetic characteristics of two families experiencing primary infertility with FF.
methodsWe have characterized two families from China. All of the infertile couples presented with similar clinical phenotypes, that is, partial or total fertilization failure in repeated cycles. We performed Sanger sequencing of their WEE2, TLE6, and PLCZ1 genes, and further bioinformatics and functional analyses were performed to identify the pathogenic elements of the variants.
resultsWe identified novel compound heterozygous mutations c.1259C>T (p.P420L) and c.1733T>C (p.M578T) in the PLCZ1 gene in a male patient of family 1 with total fertilization failure, and another novel homozygous mutation c.1727T>C (p.L576P) in the same gene in a male patient of family 2 with partial fertilization failure. These three novel mutations were absent in the control cohort and in the databases. The amino acids were conserved at their positions among six different species. All mutant amino acids were located in key domains and were predicted to impair hydrolytic activity and lead to PLCZ1 dysfunction. Further functional detection revealed that the three mutations could significantly impair the catalytic activity of PLCZ1.
conclusionsWe identified three novel mutations in PLCZ1 associated with partial and total fertilization failure and have provided new evidence about the genetic basis of FF.
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