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Genotype-phenotype correlations
Original research
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Authors

  • Mingrong Lv Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  • Wangjie Liu Obstetrics 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 Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Wangfei Chi Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, College of Life Sciences, Peking University, Beijing, China PubMed articlesGoogle scholar articles
  • Xiaoqing Ni Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  • Jiajia Wang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  • Huiru Cheng Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Wei-Yu Li Obstetrics 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 Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Shenmin Yang Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China PubMed articlesGoogle scholar articles
  • Huan Wu Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Junqiang Zhang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Yang Gao Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  • Chunyu Liu Obstetrics 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 Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Caihua Li Genesky Biotechnologies Inc, Shanghai, Shanghai, China PubMed articlesGoogle scholar articles
  • Chenyu Yang Center of Cryo-Electron Microscopy, Zhejiang University, Hangzhou, China PubMed articlesGoogle scholar articles
  • Qing Tan Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Dongdong Tang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Jingjing Zhang Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Bing Song Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Yu-Jie Chen Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Qiang Li Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Yading Zhong Department of Pathology, The First Affiliated Hospital of Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Zhihua Zhang Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China PubMed articlesGoogle scholar articles
  • Hexige Saiyin Obstetrics 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 PubMed articlesGoogle scholar articles
  • Li Jin Obstetrics 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 PubMed articlesGoogle scholar articles
  • Yuping Xu Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Ping Zhou Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Zhaolian Wei Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China PubMed articlesGoogle scholar articles
  • Chuanmao Zhang Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, College of Life Sciences, Peking University, Beijing, China PubMed articlesGoogle scholar articles
  • Xiaojin He Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  • Feng Zhang Obstetrics 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 Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China PubMed articlesGoogle scholar articles
  • Yunxia Cao Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People’s Republic of China, Hefei, China PubMed articlesGoogle scholar articles
  1. Correspondence to Associate Professor Xiaojin He; hxj0117{at}126.com; Professor Feng Zhang; zhangfeng{at}fudan.edu.cn; Professor Yunxia Cao; caoyunxia6{at}126.com
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Citation

Lv M, Liu W, Chi W, et al
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
Journal of Medical Genetics 2020;57:445-453.

Publication history

  • Received August 2, 2019
  • Revised December 2, 2019
  • Accepted December 21, 2019
  • First published February 12, 2020.
Online issue publication 
June 23, 2020

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.