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.
Department of Neurology, Kyoto Prefectural University of Medicine, Graduate School of Medicine, Kyoto, Japan. kenshiga@koto.kpu-m.ac.jp
Kensuke
K
Shiga
Yuichi
Y
Noto
Ikuko
I
Mizuta
Akihiro
A
Hashiguchi
Hiroshi
H
Takashima
Masanori
M
Nakagawa
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D055724:Electrophysiological Phenomena; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D055815:Young Adult
C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2