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GENATLAS PHENOTYPE

last update : 23-04-2012

Symbol	CMT2E
Location	8p21.2
Name	Charcot-Marie-Tooth disease, axonal, type 2 E
Other name(s)	Charcot-Marie-Tooth neuropathy type 2 E
Corresponding gene	NEFL
Main clinical features	onset in the second and third decade, difficulty in walking and weakness and atrophy of the distal lower limb muscles and a variable degree of deformity of the feet, pes cavus, denervation of the distal muscles, normal or slightly reduced motor nerve conduction velocity
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	neurofilament, light chain

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			Pro22 mutation inducing abnormal filament aggregates by disrupting proper oligomer formation and the aggregates are mitigated by phosphorylation with PKA
frameshift			abolished ability to form filaments

Remark(s)

mutations affecting the transport of mitochondria and the anterograde axonal transport marker human amyloid precursor protein, resulting in alterations of retrograde axonal transport and causing fragmentation of the Golgi apparatus NEFL mutations cause a profound alteration of the cytoskeleton possibly related to defective targeting of neurofilament