Current Status of Genetic Diagnosis of Charcot-Marie-Tooth Disease: Variety of the Disease-causing Genes Akihiro Hashiguchi 1 , Yujiro Higuchi 1 , Hiroshi Takashima 1 1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Science Keyword: 次世代シークエンサー , ターゲットリシークエンス , エクソーム解析 , 連鎖解析に基づく戦略 , オーバーラップに基づく戦略 , next generation sequencer , target resequencing , exome analysis , linkage-based strategy , overlap-based strategy pp.7-19
Published Date 2016/1/1
DOI https://doi.org/10.11477/mf.1416200341
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At least 40 genes have been associated with Charcot-Marie-Tooth disease (CMT) and the related inherited neuropathies. Genetic studies have revealed the following factors as causes of inherited neuropathies: myelin components, transcription factors for myelination, myelin maintenance systems, differentiation factors of the peripheral nerve, neurofilaments, protein transfer systems, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetases. Since 2007, we have tried to screen for mutations in CMT patients using microarrays or next generation sequencers. As a result, the detection rate of gene mutations has improved to about 25%. In this study, we applied target resequencing to 72 genes. From the negative examples, we identified the cases based on clinical course, family history, and electrophysiological findings, and then performed exome analysis. We then tried to identify novel causative genes by analyzing the enormous data obtained from our exome analysis.

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