A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease

J Peripher Nerv Syst. 2012 Jun;17(2):206-9. doi: 10.1111/j.1529-8027.2012.00403.x.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • Early Growth Response Protein 2 / genetics*
  • Electrophysiological Phenomena
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Young Adult

Substances

  • EGR2 protein, human
  • Early Growth Response Protein 2