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

Affiliations

• ¹ ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China.
• ² State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
• ³ Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
• ⁴ Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China.
• ⁵ 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.
• ⁶ Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA. Electronic address: jshen5@bwh.harvard.edu.
• ⁷ ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, 200031, China. Electronic address: bingchen@fudan.edu.cn.
• ⁸ State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China. Electronic address: zouwg94@sibcb.ac.cn.