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GENATLAS PHENOTYPE
last update : 30-08-2013
Symbol CMT4A
Location 8q21.11
HGNC id 2133
Name Charcot-Marie-Tooth disease, type 4A
Other name(s) Charcot-Marie-Tooth neuropathy type 4A
Corresponding gene GDAP1
Other symbol(s) CMT4 , CMT2G, CMT2K
Main clinical features
  • demyelinating axonal neuropathy, starting in the neonatal period or early infancy with weakness and wasting of the feet and, subsequently, involvement of the hands, causing severe disability, later development of a hoarse voice, vocal cord paresis and diaphram paralysis, become wheelchair bound in the third decade,
  • characterized by distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, with decreased nerve conduction velocity, hypomyelination and basal laminal onion bulb
    • Genetic determination autosomal recessive
    Related entries . including axonal neuropathy CMT2G with vocal cord paresis (OMIM: 607706)
    Function/system disorder neurology
    Type disease
    Gene product
    Name ganglioside-induced differentiation-associated protein 1, non sense and splicing mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein Q163X
    frameshift   truncated protein  
    Remark(s) . recessive GDAP1 mutations are associated with reduced fission activity (PMID: 19782751))
  • most mutations that cause CMT4A are found in the C-terminal GST-like domain of GDAP1
    • Genotype/Phenotype correlations M116R leading to early onset of disease with pronounced foot deformities and impaired walking