Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects

Bing Song; Chunyu Liu; Yang Gao; Jordan Lee Marley; Weiyu Li; Xiaoqin Ni; Wangjie Liu; Yujie Chen; Jiajia Wang; Chao Wang; Ping Zhou; Zhaolian Wei; Xiaojin He; Feng Zhang; Yunxia Cao

doi:10.1016/j.jgg.2020.07.004

Volume 47 Issue 11

Nov. 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(11): 713-717

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Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects

doi: 10.1016/j.jgg.2020.07.004

Bing Song^{1, 2, 3, 4, 5, 1},
Chunyu Liu^{6, 7, 8, 1},
Yang Gao^{9, 10, 11, 12, 13, 1},
Jordan Lee Marley^{14, 1},
Weiyu Li^{15, 16, 17},
Xiaoqin Ni^{18, 19, 20, 21, 22},
Wangjie Liu^{23, 24, 25},
Yujie Chen^{26, 27, 28, 29, 30},
Jiajia Wang^{26, 27, 28, 29, 30},
Chao Wang^{26, 27, 28, 29, 30},
Ping Zhou^{26, 27, 28, 29, 30},
Zhaolian Wei^{26, 27, 28, 29, 30},
Xiaojin He^{26, 27, 28, 29, 30},
Feng Zhang^{31, 32, 33},
Yunxia Cao^{34, 35, 36, 37, 38}

1
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China
2
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China
3
Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China
4
Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China
5
Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China
6
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Fudan University, Shanghai, 200011, China
7
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China
8
State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China
9
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China
10
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China
11
Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China
12
Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China
13
Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China
14
Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
15
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Fudan University, Shanghai, 200011, China
16
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China
17
State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China
18
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China
19
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China
20
Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China
21
Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China
22
Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China
23
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Fudan University, Shanghai, 200011, China
24
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China
25
State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China
26
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China
27
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China
28
Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China
29
Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China
30
Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China
31
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Fudan University, Shanghai, 200011, China
32
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China
33
State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China
34
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China
35
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, China
36
Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Hefei, 230032, China
37
Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei, 230032, China
38
Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, 230032, China

More Information

Corresponding author: E-mail address: hxj0117@126.com (Xiaojin He); E-mail address: zhangfeng@fudan.edu.cn (Feng Zhang); E-mail address: caoyunxia6@126.com (Yunxia Cao)
Publish Date: 2020-11-25

Abstract

These authors contributed equally to this work.

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References(20)

References

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