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.
