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

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)383-386
Number of pages4
JournalAnnals of Indian Academy of Neurology
Volume17
Issue number4
DOIs
StatePublished - Oct 1 2014

Keywords

  • CMT
  • exome
  • genetic testing
  • genome
  • next-generation sequencing

ASJC Scopus subject areas

  • Clinical Neurology

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