Unbound MEDLINE

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

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.

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  • Publisher Full Text
  • Authors

    Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M

    Source

    Journal of the peripheral nervous system : JPNS 17:2 2012 Jun pg 206-9

    MeSH

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

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    22734907