Annals of Indian Academy of Neurology
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PROGRESS IN MEDICINE
Year : 2014  |  Volume : 17  |  Issue : 4  |  Page : 383-386

Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease


Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA

Correspondence Address:
Ashok Verma
Clinical Research Building, 1120 NW 14 Street, Suite 1317, Miami, Florida - 33136
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.144004

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Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.


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