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GENATLAS PHENOTYPE
last update : 20/06/2006
Symbol CMT4H
Location 12p11.21-q13.11
Name Charcot-Marie-Tooth disease, type H
Other name(s) Charcot-Marie-Tooth neuropathy type H
Corresponding gene FGD4
Main clinical features
  • congenital hypomyelinating neuropathy . onset occurred within the first 2 years of life with delayed walking, unsteady gait, areflexia, scoliosis, and foot abnormalities, including pes cavus and pes equinus . electrophysiologic studies showed severely reduced motor and sensory nerve conduction velocities, consistent with a demyelinating process
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name frabin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein mutation lacking the two PH and FYVE domains, interacting respectively with phosphatidylinositol(3,4,5)P3 (PtdIns(3,4,5)P3) and phosphatidylinositol3P