Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease:
- several techniques were used: search for duplication/deletion of the PMP22 gene, CMT panel, whole exome, etc.
- 68% of patients had genetic confirmation of their disease, demonstrating a good diagnostic yield,
- CMT1A (duplication of the PMP22 gene) remains the most frequent aetiology, followed by the MFN2 (encoding mitofusine) and GJB1 (encoding connexin 32) genes,
- CMT1A remains proportionally less prevalent in China than in the rest of the world, and the de novo mutation rate appears to be higher than elsewhere.
