Dror Amiel A, Avraham Karen B
Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
Annu Rev Genet. 2009;43:411-37. doi: 10.1146/annurev-genet-102108-134135.
Hearing loss (HL), or deafness in its most severe form, affects an estimated 28 and 22.5 million Americans and Europeans, respectively. The numbers are higher in regions such as India and the Middle East, where consanguinity contributes to larger numbers of recessively inherited hearing impairment (HI). As a result of work-related difficulties, educational and developmental delays, and social stigmas and exclusion, the economic impact of HL is very high. At the other end of the spectrum, a rich deaf culture, particularly for individuals whose parents and even grandparents were deaf, is a social movement that believes that deafness is a difference in human experience rather than a disability. This review attempts to cover the remarkable progress made in the field of the genetics of HL over the past 20 years. Mutations in a significant number of genes have been discovered over the years that contribute to clinically heterogeneous forms of HL, enabling genetic counseling and prediction of progression of HL. Cell biological assays, protein localization in the inner ear, and detailed analysis of spontaneous and transgenic mouse models have provided an incredibly rich resource for elucidating mechanisms of hereditary hearing loss (HHL). This knowledge is providing answers for the families with HL, who contribute a great deal to the research being performed worldwide.
听力损失（HL），即最严重形式的耳聋，据估计分别影响2800万美国人和2250万欧洲人。在印度和中东等地区，这一数字更高，在这些地区，近亲结婚导致隐性遗传听力障碍（HI）的人数更多。由于工作相关的困难、教育和发育迟缓以及社会耻辱和排斥，HL的经济影响非常大。另一方面，丰富的聋人文化，特别是对于父母甚至祖父母都是聋人的个体来说，是一种社会运动，认为耳聋是人类经历的一种差异而非残疾。本综述试图涵盖过去20年中HL遗传学领域取得的显著进展。多年来已经发现了大量导致临床异质性HL形式的基因突变，这使得能够进行遗传咨询和预测HL的进展。细胞生物学检测、内耳中的蛋白质定位以及对自发和转基因小鼠模型的详细分析，为阐明遗传性听力损失（HHL）的机制提供了极其丰富的资源。这些知识正在为患有HL的家庭提供答案，这些家庭为全球正在进行的研究做出了巨大贡献。
