NOTCH2NLC gene study in a large cohort of patients with CMT disease

Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique called long-read:

  • 26 patients belonging to 22 families had a pathological nucleotide expansion located in the NOTCH2NLC gene,
  • this gene is known to give a distal oculo-pharyngeal myopathy,
  • the authors underline the frequency of dysautonomic manifestations and the wide range of ages of onset of symptoms.

This study demonstrates the diagnostic value of innovative high-throughput sequencing approaches.


Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan. Ando M, Higuchi Y, Yuan JH et al. J Neurol Neurosurg Psychiatry. 2023 Mar 22:jnnp-2022-330769.