Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review
Abstract Background In mammals, normal fertilization depends on the structural and functional integrity of the zona pellucida (ZP), which is an extracellular matrix surrounding oocytes. Mutations in ZP may affect oogenesis, fertilization and early embryonic development, which may cause female infert...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-12-01
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| Series: | Reproductive Biology and Endocrinology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12958-022-01046-6 |
| _version_ | 1811179170369110016 |
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| author | Juepu Zhou Meng Wang Qiyu Yang Dan Li Zhou Li Juan Hu Lei Jin Lixia Zhu |
| author_facet | Juepu Zhou Meng Wang Qiyu Yang Dan Li Zhou Li Juan Hu Lei Jin Lixia Zhu |
| author_sort | Juepu Zhou |
| collection | DOAJ |
| description | Abstract Background In mammals, normal fertilization depends on the structural and functional integrity of the zona pellucida (ZP), which is an extracellular matrix surrounding oocytes. Mutations in ZP may affect oogenesis, fertilization and early embryonic development, which may cause female infertility. Methods A PubMed literature search using the keywords ‘zona pellucida’, ‘mutation’ and ‘variant’ limited to humans was performed, with the last research on June 30, 2022. The mutation types, clinical phenotypes and pregnancy outcomes were summarized and analyzed. The naive Bayes classifier was used to predict clinical pregnancy outcomes for patients with ZP mutations. Results A total of 29 publications were included in the final analysis. Sixty-nine mutations of the ZP genes were reported in 87 patients with different clinical phenotypes, including empty follicle syndrome (EFS), ZP-free oocytes (ZFO), ZP-thin oocytes (ZTO), degenerated and immature oocytes. The phenotypes of patients were influenced by the types and location of the mutations. The most common effects of ZP mutations are protein truncation and dysfunction. Three patients with ZP1 mutations, two with ZP2 mutations, and three with ZP4 mutations had successful pregnancies through Intracytoplasmic sperm injection (ICSI) from ZFO or ZTO. A prediction model of pregnancy outcome in patients with ZP mutation was constructed to assess the chance of pregnancy with the area under the curve (AUC) of 0.898. The normalized confusion matrix showed the true positive rate was 1.00 and the true negative rate was 0.38. Conclusion Phenotypes in patients with ZP mutations might be associated with mutation sites or the degree of protein dysfunction. Successful pregnancy outcomes could be achieved in some patients with identified ZP mutations. Clinical pregnancy prediction model based on ZP mutations and clinical characteristics will be helpful to precisely evaluate pregnancy chance and provide references and guidance for the clinical treatment of relevant patients. |
| first_indexed | 2024-04-11T06:30:16Z |
| format | Article |
| id | doaj.art-20f05be8c2554a2b8b110e7878403d3c |
| institution | Directory Open Access Journal |
| issn | 1477-7827 |
| language | English |
| last_indexed | 2024-04-11T06:30:16Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Reproductive Biology and Endocrinology |
| spelling | doaj.art-20f05be8c2554a2b8b110e7878403d3c2022-12-22T04:40:05ZengBMCReproductive Biology and Endocrinology1477-78272022-12-0120111210.1186/s12958-022-01046-6Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature reviewJuepu Zhou0Meng Wang1Qiyu Yang2Dan Li3Zhou Li4Juan Hu5Lei Jin6Lixia Zhu7Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyReproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyAbstract Background In mammals, normal fertilization depends on the structural and functional integrity of the zona pellucida (ZP), which is an extracellular matrix surrounding oocytes. Mutations in ZP may affect oogenesis, fertilization and early embryonic development, which may cause female infertility. Methods A PubMed literature search using the keywords ‘zona pellucida’, ‘mutation’ and ‘variant’ limited to humans was performed, with the last research on June 30, 2022. The mutation types, clinical phenotypes and pregnancy outcomes were summarized and analyzed. The naive Bayes classifier was used to predict clinical pregnancy outcomes for patients with ZP mutations. Results A total of 29 publications were included in the final analysis. Sixty-nine mutations of the ZP genes were reported in 87 patients with different clinical phenotypes, including empty follicle syndrome (EFS), ZP-free oocytes (ZFO), ZP-thin oocytes (ZTO), degenerated and immature oocytes. The phenotypes of patients were influenced by the types and location of the mutations. The most common effects of ZP mutations are protein truncation and dysfunction. Three patients with ZP1 mutations, two with ZP2 mutations, and three with ZP4 mutations had successful pregnancies through Intracytoplasmic sperm injection (ICSI) from ZFO or ZTO. A prediction model of pregnancy outcome in patients with ZP mutation was constructed to assess the chance of pregnancy with the area under the curve (AUC) of 0.898. The normalized confusion matrix showed the true positive rate was 1.00 and the true negative rate was 0.38. Conclusion Phenotypes in patients with ZP mutations might be associated with mutation sites or the degree of protein dysfunction. Successful pregnancy outcomes could be achieved in some patients with identified ZP mutations. Clinical pregnancy prediction model based on ZP mutations and clinical characteristics will be helpful to precisely evaluate pregnancy chance and provide references and guidance for the clinical treatment of relevant patients.https://doi.org/10.1186/s12958-022-01046-6ZP genesMutationEmpty follicle syndromeZona pellucida abnormalityNaive Bayes classifierPrediction model |
| spellingShingle | Juepu Zhou Meng Wang Qiyu Yang Dan Li Zhou Li Juan Hu Lei Jin Lixia Zhu Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review Reproductive Biology and Endocrinology ZP genes Mutation Empty follicle syndrome Zona pellucida abnormality Naive Bayes classifier Prediction model |
| title | Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review |
| title_full | Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review |
| title_fullStr | Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review |
| title_full_unstemmed | Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review |
| title_short | Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review |
| title_sort | can successful pregnancy be achieved and predicted from patients with identified zp mutations a literature review |
| topic | ZP genes Mutation Empty follicle syndrome Zona pellucida abnormality Naive Bayes classifier Prediction model |
| url | https://doi.org/10.1186/s12958-022-01046-6 |
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