Genetics: advances in genetic testing for deafness.
Genetics: advances in genetic testing for deafness.
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DOI：
10.1097/mop.0b013e3283588f5e
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发表时间：
2012-12
影响因子：
3.6
通讯作者：
Smith RJ
中科院分区：
文献类型：
--
作者：
Shearer AE;Smith RJ
提供最近发现的人类耳聋基因的最新信息，并描述耳聋综合基因检测平台的进展，这两个平台都是通过新的大规模平行测序技术实现的。在回顾期内，已经发现了3个综合征型和6个非综合征型耳聋基因，使非综合征型耳聋基因的总数达到64个。四项研究显示了大规模平行测序在耳聋综合基因检测中的实用性。其中三个平台已在临床或商业基础上发布。耳聋是人类最常见的感觉缺陷。由于极端的遗传异质性和缺乏表型变异性，遗传诊断传统上是困难的。由于这些原因，已经开发了使用大规模平行测序的综合遗传筛选平台。这些技术也加快了耳聋基因发现的步伐。由于基因诊断是分子治疗的基础，这些进展为今后聋人和听力障碍者的临床护理奠定了基础。
To provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies. Over the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis. Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future.