Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease
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DOI：
10.1038/ejhg.2009.31
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发表时间：
2009-06-01
影响因子：
5.2
通讯作者：
Lupski, James R.
中科院分区：
文献类型：
--
作者：
Szigeti, Kinga;Lupski, James R.
Charcot-Marie-Tooth （CMT）病是一种异质性遗传疾病，表现为影响运动神经和感觉神经的慢性进行性神经病变。在过去的十年中，已经确定了二十多个基因的突变导致CMT。该疾病阐明了多种遗传原理，包括从点突变到拷贝数变异（CNV）、等位基因异质性、年龄依赖性外显率和可变表达性等多种突变机制。基于人群的研究已经确定了各种基因对疾病负担的影响，从而使基于证据的基因检测方法成为可能。
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity. Population based studies have determined the contributions of the various genes to disease burden enabling evidence-based approaches to genetic testing.