High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also to uncover digenism phenomena as demonstrated by a Chinese study in which :
- 189 families with a phenotype compatible with Charcot-Marie-Tooth disease (CMT) were explored in NGS, with a prior study looking for the duplication of the PMP22 gene characteristic of CMT1A,
- four of them had two concomitant anomalies in known CMT genes,
- one had a combination of a variant in the MPZ gene and a PMP22 duplication, the other three had a combination of pathological variants in the MFN2 and GDAP1 genes.
The authors attempted to establish correlations between these singular genotypes and the phenotypes of the different members of the families concerned.
