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A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome.

Methods

Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments.

Results

We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient.

Conclusion

Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.

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Funding

This work was supported by grants from National Natural Science Foundation of China (82071701 to F. Z, 81792641 to F. W), Natural Science Foundation of Anhui Province (1908085 J28 to F. Z), Key R&D program of Anhui Province (201904a07020050 to F. Z), and the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences (2019PT310002), and Scientific Research Foundation of the Institute for Translational Medicine of Anhui Province (SRFITMAP 2017zhyx29 and ZHYX2020A001) supported this study.

Author information

Author notes

  1. Mengmeng Lu, Shuai Kong, Mingfei Xiang and Yu Wang contributed equally to this work.

Authors and Affiliations

  1. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China

    Mengmeng Lu, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Yunxia Cao & Fuxi Zhu

  2. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, Anhui, China

    Mengmeng Lu, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Yunxia Cao & Fuxi Zhu

  3. Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People’s Republic of China, Anhui Medical University, Hefei, 230032, Anhui, China

    Mengmeng Lu, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Yunxia Cao & Fuxi Zhu

  4. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China

    Mengmeng Lu, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Yunxia Cao & Fuxi Zhu

  5. School of Life Science, Anhui Medical University, Hefei, 230022, China

    Shuai Kong & Fengsong Wang

Authors
  1. Mengmeng Lu
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  2. Shuai Kong
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  3. Mingfei Xiang
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  4. Yu Wang
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  7. Xiaomin Zha
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  8. Fengsong Wang
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  9. Yunxia Cao
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  10. Fuxi Zhu
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Corresponding authors

Correspondence to Fengsong Wang, Yunxia Cao or Fuxi Zhu.

Ethics declarations

This study was approved by the ethics committee of Anhui Medical University. Written informed consent was obtained from each participant.

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The authors declare that they have no conflict of interest.

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Lu, M., Kong, S., Xiang, M. et al. A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. J Assist Reprod Genet 38, 949–955 (2021). https://doi.org/10.1007/s10815-021-02075-7

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  • DOI: https://doi.org/10.1007/s10815-021-02075-7

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