Natural history and phenotype–genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review

doi: 10.1016/j.jgg.2026.02.006

• Liheng Chen ^a,b,c,d,e , 
• Cheng Wen ^f,g , 
• Weitao Li ^a,b,c,d,e , 
• Bowen Zhang ^a,b,c,d,e , 
• Chong Cui ^a,b,c,d,e , 
• Sha Yu ^a,b,c,d,e , 
• Cheng Ye ^a,b,c,d,e , 
• Wei Li ^a,b,c,d,e , 
• Yu Lu ^h , 
• Huanhai Liu ⁱ , 
• Huawei Li ^a,b,c,d,e     , 
• Huijun Yuan ^b,h,j     , 
• Qin Wang ^f,g     , 
• Yilai Shu ^a,b,c,d,e    

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  a. ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China;

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  b. Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Fudan University, Shanghai 200031, China;

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  c. State Key Laboratory of Brain Function and Disorders and MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China;

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  d. NHC Key Laboratory of Hearing Medicine, Shanghai 200031, China;

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  e. Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China;

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  f. Department of Otolaryngology-Head and Neck Surgery, Second Xiangya Hospital, Institute of Otology, Central South University, Changsha, Hunan 410011, China;

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  g. Clinical Medical Research Center for Otology in Hunan Province, Changsha, Hunan 410011, China;

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  h. Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, Sichuan 610000, China;

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  i. Department of Otolaryngology, Changzheng Hospital, Naval Medical University/Second Military Medical University, Shanghai 200003, China;

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  j. Department of Otorhinolaryngology-Head & Neck Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610000, China