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Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis

  • General Gynecology
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

Endometriosis is a common chronic gynecological disease greatly affecting women health. Prior studies have implicated that dysferlin (DYSF) aberration might be involved in the pathogenesis of ovarian endometriosis. In the present study, we explore the potential presence of DYSF mutations in a total of 152 Han Chinese samples with ovarian endometriosis.

Methods

We analyze the potential presence of DYSF mutations by direct DNA sequencing.

Results

A total of seven rare variants/mutations in the DYSF gene in 10 out of 152 samples (6.6%) were identified, including 5 rare variants and 2 novel mutations. For the 5 rare variants, p.R334W and p.G941S existed in 2 samples, p.R865W, p.R1173H and p.G1531S existed in single sample, respectively; for the two novel mutations, p.W352* and p.I1642F, they were identified in three patients. These rare variants/mutations were absent or existed at extremely low frequency either in our 1006 local control women without endometriosis, or in the China Metabolic Analytics Project (ChinaMAP) and Genome Aggregation Database (gnomAD) databases. Evolutionary conservation analysis results suggested that all of these rare variants/mutations were evolutionarily conserved among 11 vertebrate species from Human to Fox. Furthermore, in silico analysis results suggested these rare variants/mutations were disease-causing. Nevertheless, we find no significant association between DYSF rare variants/mutations and the clinical features in our patients. To our knowledge, this is the first report revealing frequent DYSF mutations in ovarian endometriosis.

Conclusion

We identified a high frequency of DYSF rare variants/mutations in ovarian endometriosis for the first time. This study suggests a new correlation between DYSF rare variants/mutations and ovarian endometriosis, implicating DYSF rare variants/mutations might be positively involved in the pathogenesis of ovarian endometriosis.

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Acknowledgements

We thank the sample donors who involved in the present study.

Funding

This study was supported by China Postdoctoral Science Foundation (No. 2018M642594), Jiangxi Province Postdoctoral Science Foundation (2018KY21), and the Science Foundation of Jiangxi Province (No. 20181BBG70018).

Author information

Authors and Affiliations

  1. Key Laboratory of Women’s Reproductive Health of Jiangxi Province, Department of Gynecology, Jiangxi Provincial Maternal and Child Health Hospital, No 318 Bayi Avenue, Nanchang, 330006, Jiangxi, People’s Republic of China

    Li-Sha Peng, Zeng-Ming Li, Ge Chen, Fa-Ying Liu, Yong Luo, Jiu-Bai Guo, Li-Xian Xu, Jiang-Yan Zhou & Yang Zou

  2. Central Lab, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, People’s Republic of China

    Ge Chen, Fa-Ying Liu, Yong Luo & Yang Zou

  3. Department of Gynecology, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, People’s Republic of China

    Jiu-Bai Guo & Jiang-Yan Zhou

  4. Department of Clinical Medicine, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, People’s Republic of China

    Guo-Dong Gao

  5. Department of Pathology, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, People’s Republic of China

    Ying-Hui Deng

Authors
  1. Li-Sha Peng
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  2. Zeng-Ming Li
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  3. Ge Chen
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  4. Fa-Ying Liu
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  5. Yong Luo
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  6. Jiu-Bai Guo
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  8. Ying-Hui Deng
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  9. Li-Xian Xu
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  10. Jiang-Yan Zhou
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  11. Yang Zou
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Contributions

LS Peng: investigation; ZM Li: sample collection; G Chen: investigation; FY Liu: investigation; Y Luo: data analysis; JB Guo: sample collection; GD Gao: data analysis; YH Deng: sample collection; LX Xu: investigation; JY Zhou: writing, and editing; Y Zou: Methodology, manuscript revision.

Corresponding authors

Correspondence to Jiang-Yan Zhou or Yang Zou.

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Conflict of interest

None.

Ethics approval

The Institutional Ethics Committee of Jiangxi Provincial Maternal and Child Health Hospital approved this study.

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Li-Sha Peng and Zeng-Ming Li are the co-first authors.

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Peng, LS., Li, ZM., Chen, G. et al. Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. Arch Gynecol Obstet 304, 671–677 (2021). https://doi.org/10.1007/s00404-021-06094-8

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  • DOI: https://doi.org/10.1007/s00404-021-06094-8

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