The diagnostic yield of standard genetic studies for Charcot-Marie-Tooth (CMT) disease remains relatively poor despite the use of high-throughput sequencing (NGS). South Korean researchers have adopted a “whole-genome sequencing” (WGS) strategy in an attempt to remedy these difficulties.
- Seventy-two families were included in the study,
- no molecular signature had been obtained in these families (after whole exome sequencing, a duplication of the PMP22 gene having been ruled out beforehand),
- of these, 19 could be resolved using WGS,
- four concerned genes outside the sphere of peripheral neuropathies.
This study demonstrates the value of WGS and foreshadows future diagnostic techniques for CMT.
