Abstract
Purpose
Variants in the pannexin1 (PANX1) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we performed genetic analysis in the patient with female infertility due to oocyte death to identify the disease-causing gene variant in the patient.
Methods
We characterized one patient from a non-consanguineous family who had suffered from oocyte death and female infertility. Whole-exome sequencing and Sanger sequencing were used to identify the variant in the family. Western blot analysis was used to check the effect of the variant on PANX1 glycosylation pattern in vitro.
Results
We identified a novel heterozygous PANX1 variant (NM_015368.4 c.976_978del, (p.Asn326del)) associated with the phenotype of oocyte death in a non-consanguineous family, followed by an autosomal dominant (AD) mode. This variant showed a more delayed emergence of oocyte death than previously reported articles. Western blot analysis confirmed that the deletion variant of PANX1 (c.976_978del) altered the glycosylation pattern in HeLa cells.
Conclusions
Our findings expand the variant spectrum of PANX1 genes associated with oocyte death and provide new support for the genetic diagnosis of female infertility.
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Data Availability
All data generated and analyzed in this study are included in this published manuscript.
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Acknowledgements
We would like to thank Qing Sang and Lei Wang from Fudan University for providing the gift of PANX1 antibody. We also thank the patient and her family for their participation and support in this study.
Funding
This work was supported by the research grants from the National Key Research & Development Program of China (2021YFC2700603) and Health Commission of Hubei Province scientific research project (WJ2021M110).
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Contributions
Juepu Zhou: Literature review, writing and revising of text and tables. Meng Wang: Lead for prediction model, literature review, writing and revising. Juan Hu: Tables, figures, literature review. Zhou Li: Literature review and revising. Lixia Zhu: Conception and design, writing and revising. Lei **: Primary supervisor, conception and design, writing and revising.
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This study has been approved by the Ethics Committee of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology. Reference number for ethics approval is TJ-IRB20220450. Written informed consent was obtained from the participants.
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The authors declare no competing interests.
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Zhou, J., Wang, M., Hu, J. et al. A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death. J Assist Reprod Genet 40, 65–73 (2023). https://doi.org/10.1007/s10815-022-02666-y
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DOI: https://doi.org/10.1007/s10815-022-02666-y