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‐Too...

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Bibliographic Details
Published in:Journal of the peripheral nervous system 2012-06, Vol.17 (2), p.206-209
Main Authors: Shiga, Kensuke, Noto, Yuichi, Mizuta, Ikuko, Hashiguchi, Akihiro, Takashima, Hiroshi, Nakagawa, Masanori
Format: Article
Language:English
Subjects:
Adolescent
Asparagine
Atrophy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
demyelinating neuropathy
Demyelination
Early Growth Response Protein 2 - genetics
EGR-2 protein
EGR2 mutation
Electrophysiological Phenomena
Female
heterozygous mutation
Humans
In Situ Hybridization, Fluorescence
Leg
Male
Middle Aged
mild phenotype
Mutation
Neuropathy
Pedigree
Phenotype
Point Mutation
Threonine
Young Adult
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Summary: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.
ISSN:1085-9489
1529-8027
DOI:10.1111/j.1529-8027.2012.00403.x