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Diagnosis, Intervention, and Prevention of Genetic Hearing Loss

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Hearing Loss: Mechanisms, Prevention and Cure

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1130))

Abstract

It is estimated that at least 50% of congenital or childhood hearing loss is attributable to genetic causes. In non-syndromic hearing loss, which accounts for 70% of genetic hearing loss, approximately 80% of cases are autosomal recessive, 15% autosomal dominant, and 1–2% mitochondrial or X-linked. In addition, 30% of genetic hearing loss is syndromic. The genetic causes of hearing loss are highly heterogeneous. So far, more than 140 deafness-related genes have been discovered. Studies on those genes tremendously increased our understanding of the inner ear functions at the molecular level. It also offers important information for the patients and allows personalized and accurate genetic counseling. In many cases, genetic diagnosis of hearing loss can help to avoid unnecessary and costly clinical testing, offer prognostic information, and guide future medical management. On the other hand, a variety of gene therapeutic approaches have been developed aiming to relieve or converse the hearing loss due to genetic causes. Prevention of genetic hearing loss is feasible through prepregnancy and prenatal genetic diagnosis and counseling.

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Authors and Affiliations

  1. Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China

    Tao Yang, Longhao Wang & Xiaoyu Yu

  2. Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China

    Tao Yang, Longhao Wang & Xiaoyu Yu

  3. Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China

    Tao Yang, Longhao Wang & Xiaoyu Yu

  4. Key Laboratory of Hearing Medicine of NHFPC, ENT Institute and Otorhinolaryngology Department, Shanghai Engineering Research Centre of Cochlear Implant, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, China

    Luo Guo

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  1. Tao Yang
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  2. Luo Guo
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  3. Longhao Wang
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  4. Xiaoyu Yu
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Editors and Affiliations

  1. Key Laboratory of Hearing Medicine of NHFPC, ENT Institute and Otorhinolaryngology Department, Shanghai Engineering Research Centre of Cochlear Implant, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, China

    Huawei Li

  2. MOE Key Laboratory for Developmental Genes and Human Disease, Institute of Life Sciences, Jiangsu Province High-Tech Key Laboratory for Bio-Medical Research, Southeast University, Nanjing, China

    Renjie Chai

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Yang, T., Guo, L., Wang, L., Yu, X. (2019). Diagnosis, Intervention, and Prevention of Genetic Hearing Loss. In: Li, H., Chai, R. (eds) Hearing Loss: Mechanisms, Prevention and Cure. Advances in Experimental Medicine and Biology, vol 1130. Springer, Singapore. https://doi.org/10.1007/978-981-13-6123-4_5

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