Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes
Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes
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DOI：
10.1159/000343487
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发表时间：
2012-01-01
影响因子：
1.1
通讯作者：
Chrast, R.
中科院分区：
文献类型：
--
作者：
Azzedine, H.;Senderek, J.;Chrast, R.
腓骨肌萎缩症（Charcot-Marie-Tooth disease，CMT）是一组异质性的周围神经系统疾病，主要特征是远端肌肉无力和萎缩，导致运动障碍。估计患病率为1/2500，这种情况是最常见的遗传性神经系统疾病之一。影响神经胶质和/或神经元功能的30多个基因的突变与不同形式的CMT相关，从而大大改善了疾病的诊断和对相关病理生理机制的理解。然而，最近的数据，从系统的遗传筛查进行的大型队列的CMT患者表明，分子诊断可以建立只有在类似的50-70%，这表明，其他基因参与这种疾病。除了提供有关各种CMT形式的遗传和功能数据的概述，本次审查的重点是通过使用高度并行的遗传技术（SNP芯片，序列捕获和下一代DNA测序）在CMT家族中产生的最新数据，以及这些技术对基因发现和诊断CMT的当前和未来的影响。版权所有（C）2012 S. Karger AG，巴塞尔
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms. However, recent data from systematic genetic screening performed in large cohorts of CMT patients indicated that molecular diagnosis could be established only in similar to 50-70% of them, suggesting that additional genes are involved in this disease. In addition to providing an overview of genetic and functional data concerning various CMT forms, this review focuses on recent data generated through the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families, and the current and future impact of these technologies on gene discovery and diagnostics of CMTs. Copyright (C) 2012 S. Karger AG, Basel