French experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies

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Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the Diagnostic tools – molecular genetics subcommittee of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS).

They list :

  • 81 genes involved in CMT (included 26 only suspected for the moment) ;
  • 26 genes involved in dHMN;
  • 17 genes involved in HSAN.

This panel of genes is a remarkable and unique tool for the diagnosis of these genetic neuropathies.

 

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing. T Benquey, E Pion, M Cossée et al. Genes (Basel). 2022 (Fév)

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