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GENATLAS PHENOTYPE
last update : 27-06-2018
Symbol CMT1C
Location 16p13.13
Name Charcot-Marie-Tooth disease, demyelinating, type 1C
Other name(s)
  • Charcot-Marie-Tooth neuropathy, type 1C hereditary motor and sensory, type IC
  • slow nerve conduction type C
    • Corresponding gene LITAF
    Other symbol(s) HMSN1C, CMT
    Main clinical features
  • demyelinating form of peripheral neuropathy
  • early onset (6 to 34 years), delayed latency conduction
  • high-arched feet, distal muscle weakness and atrophy, depressed deep-tendon reflexes, sensory impairment, slow nerve conduction velocities, and nerve demyelination
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name lipopolysaccharide-induced TNF factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function in the conserved 19 AA stretch
    Remark(s)
  • pathogenic mutations are clustered within or around the TMD of LITAF and these mutations cause mislocalization of LITAF from the early endosome membrane to the cytosol, and are unstable and prone to aggregation, and they are selectively degraded by both the proteasome and aggresome-autophagy pathways (PMID: 21896645))
  • altered endosomal trafficking due to malformations of multivesicular bodies (MVBs) and subsequent atypical signaling kinetic may account for a toxic gain of function in CMT1C pathogenesis (PMID: 25923657))
    • Genotype/Phenotype correlations LITAF mutations can severely affect the CMT phenotype caused by a PMP22 duplication