title: Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.
abstract: 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.
authors.affiliation: Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
authors.forename: Ashok
authors.initials: A
authors.lastname: Verma
keywords: CMT; exome; genetic testing; genome; next-generation sequencing