Genetics of hearing and deafness.
Genetics of hearing and deafness.
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DOI：
10.1002/ar.22579
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发表时间：
2012-11
期刊：
影响因子：
--
通讯作者：
Liu XZ
中科院分区：
文献类型：
--
作者：
Angeli S;Lin X;Liu XZ
本文是对影响人类听力的基因和遗传疾病以及一些选定的耳聋小鼠模型的综述。遗传学在医学实践中发挥着越来越关键的作用。这不仅部分归因于遗传知识对传统遗传疾病的重要性，还部分归因于遗传知识提供了对大多数疾病的基本生物学过程的理解。与听力损失（HL）相关的基因所编码的蛋白质参与耳部的许多功能，例如耳蜗液体稳态、离子通道、静纤毛形态和功能、突触传递、基因调控等。小鼠模型在理解与这些基因相关的发病机制方面起着至关重要的作用。不同类型的家族性HL多年来已被认识；然而，在过去的二十年中，在发现导致耳聋的基因突变方面取得了巨大进展。当今所认识的大多数遗传性耳聋病例是单基因疾病，可根据遗传方式（即常染色体显性、常染色体隐性、X连锁和线粒体遗传）以及相关表型特征的存在（即综合征性和非综合征性）大致分类。就非综合征性HL而言，目前约125个基因座的染色体位置已知（54个为显性耳聋，71个为隐性耳聋），已确定64个基因（24个为显性耳聋，40个为隐性耳聋），并且还有更多的综合征性耳聋以及X连锁和线粒体DNA疾病的基因座（http://hereditaryhearingloss.org）。因此，当今的临床医生必须了解医学遗传学知识，因为这些知识可导致更有效的疾病诊断、咨询、治疗和预防。
This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ~ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today’s clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention.