A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.
Mutations of the early growth response 2 (EGR2) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child-onset Dejerine-Sottas neuropathy, and autosomal dominant adult-onset Charcot-Marie-Tooth disease (CMT). Here, we report on a heterozygous mutation in EGR2 (c.1160C>A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT. Of note, both the proband and her asymptomatic son exhibited neither pes cavus nor champagne-bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating CMT.
SourceJournal of the peripheral nervous system : JPNS 17:2 2012 Jun pg 206-9
Early Growth Response Protein 2
In Situ Hybridization, Fluorescence
Pub Type(s)Case Reports
Research Support, Non-U.S. Gov't