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Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility
  1. Chunyu Liu1,2,3,4,
  2. Mingrong Lv4,5,6,
  3. Xiaojin He4,5,6,
  4. Yong Zhu1,
  5. Amir Amiri-Yekta7,8,9,
  6. Weiyu Li1,2,3,
  7. Huan Wu4,5,6,
  8. Zine-Eddine Kherraf7,8,
  9. Wangjie Liu1,2,3,
  10. Jingjing Zhang4,5,6,
  11. Qing Tan4,5,6,
  12. Shuyan Tang1,2,3,
  13. Yong-Jun Zhu10,
  14. Yading Zhong11,
  15. Caihua Li12,
  16. Shixiong Tian1,
  17. Zhiguo Zhang4,5,6,
  18. Li Jin1,
  19. Pierre Ray7,8,
  20. Feng Zhang1,2,3,4,
  21. Yunxia Cao4,5,6
  1. 1Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China
  2. 2Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China
  3. 3State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China
  4. 4Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China
  5. 5Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China
  6. 6Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China
  7. 7Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France
  8. 8Centre Hospitalier Universitaire de Grenoble, UM GI-DPI, Grenoble, France
  9. 9Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture, and Research, Tehran, Iran
  10. 10Department of Thoracic Surgery, Huashan Hospital, Fudan University, Shanghai, China
  11. 11Department of Radiology, The First Affiliated Hospital of Anhui Medical University, Hefei, China
  12. 12Genesky Biotechnologies Inc, Shanghai, China
  1. Correspondence to Professor Feng Zhang, Fudan University, Shanghai, China; zhangfeng{at}fudan.edu.cn; Professor Yunxia Cao, Anhui Medical University, Hefei, China; caoyunxia6{at}126.com

Footnotes

  • ChL, ML, XH, YoZ and PR contributed equally.

  • Contributors ChL, ML, XH, PR and FZ designed the study. ML, XH, AA-Y, HW, JZ, QT, Y-JZ, YaZ, ZZ and YC provided patients’ data and performed clinical assessments. ChL, YoZ, AA-Y, WeL, Z-EK, WaL and STi conducted the experiments. ChL, ML, XH, YoZ, HW, Z-EK, STa, CaL, LJ, PR, FZ and YC analysed the data. ChL, XH, PR, FZ and YC wrote the manuscript. PR, FZ and YC supervised the study.

  • Funding This work was supported by the National Natural Science Foundation of China (31625015, 31521003 and 81601340), Special Foundation for Development of Science and Technology of Anhui Province (2017070802D150 and YDZX20183400004194), Foundation of the Education Department of Anhui Province (KJ2016A370), Natural Science Foundation of Anhui Province (1708085QC59), Shanghai Medical Center of Key Programs for Female Reproductive Diseases (2017ZZ01016), and Shanghai Municipal Science and Technology Major Project (2017SHZDZX01).

  • Competing interests None declared.

  • Patient consent for publication All patients gave their signed informed consent for this study.

  • Ethics approval Declaration of Helsinki and approved by the Ethical Committees of the centers participating in this study.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • ChL, ML, XH, YoZ and PR contributed equally.

  • Contributors ChL, ML, XH, PR and FZ designed the study. ML, XH, AA-Y, HW, JZ, QT, Y-JZ, YaZ, ZZ and YC provided patients’ data and performed clinical assessments. ChL, YoZ, AA-Y, WeL, Z-EK, WaL and STi conducted the experiments. ChL, ML, XH, YoZ, HW, Z-EK, STa, CaL, LJ, PR, FZ and YC analysed the data. ChL, XH, PR, FZ and YC wrote the manuscript. PR, FZ and YC supervised the study.

  • Funding This work was supported by the National Natural Science Foundation of China (31625015, 31521003 and 81601340), Special Foundation for Development of Science and Technology of Anhui Province (2017070802D150 and YDZX20183400004194), Foundation of the Education Department of Anhui Province (KJ2016A370), Natural Science Foundation of Anhui Province (1708085QC59), Shanghai Medical Center of Key Programs for Female Reproductive Diseases (2017ZZ01016), and Shanghai Municipal Science and Technology Major Project (2017SHZDZX01).

  • Competing interests None declared.

  • Patient consent for publication All patients gave their signed informed consent for this study.

  • Ethics approval Declaration of Helsinki and approved by the Ethical Committees of the centers participating in this study.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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