Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 04-04-2019

Symbol	CMTX1
Location	Xq13.1
HGNC id	2136
Name	Charcot-Marie-Tooth disease, type 1
Other name(s)	Charcot-Marie-Tooth neuropathy, type 1
Corresponding gene	GJB1
related resource	Antithrombin Mutation Database
Other symbol(s)	CMTX, CMT1X
Main clinical features	distal muscle weakness and amyotrophy, sensory loss, in some cases neurosensory deafness, decreased or absent tendon reflexes, high arched feet and intermediate motor nerve conduction velocities recurrent central nervous system symptoms with transient white matter signal changes on MRI (PMID: 24170412))
Genetic determination	sex linked
Function/system disorder	neurology
Type	disease

Gene product

Name	gap junction communication channel component (GJB1)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
			V181A severe form, very few gap junction plaques
			E102G , milder form, , reduced gap junction coupling during periods of metabolic stress

Remark(s)

CCL2 reduction is a promising strategy to treat CMT1 neuropathies, particularly in disease forms where axon damage is predominant as in Cx32def mice and the corresponding human disorder, CMTX1 (PMID: 20591826)) most GJB1 mutations cause loss of function and inability of the mutant GJB1 to form functional GJs (PMID: 25449862))