Matsunaga Tatsuo
Department of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, Japan.
Keio J Med. 2009 Dec;58(4):216-22. doi: 10.2302/kjm.58.216.
Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect for SNHL, especially in children. In recent 10 years, our knowledge in genetic causes of SNHL has made a significant advance, and now it is used for diagnosis and other clinical practices. Hereditary hearing loss can be classified into syndromic and nonsyndromic hearing loss. As the nonsyndromic deafness genes, more than 100 loci for deafness genes have been determined, and more than 40 genes were identified. Furthermore, more than 300 forms of syndromic hearing loss have been characterized, and each syndrome may have several causative genes. In childhood hearing loss, early educational intervention is required in addition to medical intervention for normal development of speech and language. In addition, even severe to profound hearing loss may be restored very effectively by hearing aids or cochlear implants. Because of these features of SNHL, genetic testing has exceptionally high value in the medical practice for hereditary hearing loss. Several strategies are used for genetic testing of SNHL for accurate and efficient identification of the genetic causes, and the results were used for explanation of the cause, prediction of auditory features, prevention of deafness, management of associated symptoms, determination of therapy, and genetic counseling. Identification of damaged cells in the inner ear and the underlying mechanism by genetic testing undoubtedly facilitates development and introduction of novel and specific therapies to distinct types of SNHL.
感音神经性听力损失（SNHL）是人类最常见的残疾之一，遗传学是SNHL的一个重要方面，在儿童中尤为如此。近十年来，我们对SNHL遗传病因的认识取得了重大进展，现在它被用于诊断和其他临床实践。遗传性听力损失可分为综合征性和非综合征性听力损失。作为非综合征性耳聋基因，已确定了100多个耳聋基因位点，鉴定出40多个基因。此外，已对300多种综合征性听力损失形式进行了特征描述，每种综合征可能有多个致病基因。在儿童听力损失中，除了医学干预外，还需要早期教育干预，以促进言语和语言的正常发育。此外，即使是重度至极重度听力损失，也可通过助听器或人工耳蜗非常有效地恢复听力。由于SNHL的这些特点，基因检测在遗传性听力损失的医学实践中具有极高的价值。有几种策略用于SNHL的基因检测，以准确、高效地识别遗传病因，检测结果用于病因解释、听觉特征预测、耳聋预防、相关症状管理、治疗方案确定和遗传咨询。通过基因检测识别内耳受损细胞及其潜在机制，无疑有助于开发和引入针对不同类型SNHL的新型特异性疗法。
