The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population

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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.

 

Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients. Ma Y, Duan X, Liu X, Fan D. Front Genet. 2023 Juil.

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