The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis

Yilai Shu; Lijun Wang; Xiaoting Cheng; Chayada Tangshewinsirikul; Weili Shi; Yasheng Yuan; Zhiqiang Yan; Huawei Li; Jun Shen; Bing Chen; Weiguo Zou

doi:10.1016/j.jgg.2019.09.003

Volume 46 Issue 9

Sep. 2019

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Article Navigation > Journal of Genetics and Genomics > 2019 > 46(9): 445-449

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The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis

doi: 10.1016/j.jgg.2019.09.003

Yilai Shu^{1, 17, 2, #},
Lijun Wang^{3, #},
Xiaoting Cheng^{4, 22, 5},
Chayada Tangshewinsirikul^{6, 7},
Weili Shi^{8, 9},
Yasheng Yuan^{10, 24, 11},
Zhiqiang Yan¹²,
Huawei Li^{13, 23, 14},
Jun Shen^{15, 16},
Bing Chen^{20, 21, 18},
Weiguo Zou¹⁹

1
ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China
2
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China
3
State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China
4
ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China
5
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China
6
Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 02115, USA
7
Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
8
Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
9
Medical Genetics Institute of Henan Province, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, 450003, China
10
ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China
11
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China
12
State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Human Phenome Institute, Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center of Genetics and Development, Institute of Brain Science, Department of Physiology and Biophysics, School of Life Sciences, Fudan University, Shanghai, 200438, China
13
ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China
14
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China
15
Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 02115, USA
16
Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA
17
Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China
18
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China
19
State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China
20
ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China
21
Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China
22
Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China
23
Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China
24
Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China

More Information

Corresponding author: E-mail address: jshen5@bwh.harvard.edu (Jun Shen); E-mail address: bingchen@fudan.edu.cn (Bing Chen); E-mail address: zouwg94@sibcb.ac.cn (Weiguo Zou)
Received Date: 2019-04-17
Accepted Date: 2019-09-11
Rev Recd Date: 2019-08-17

Available Online: 2019-09-27

Publish Date: 2019-09-20

Abstract

These authors contributed equally to this work.

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References(20)

References

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