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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Authors | Kensuke Shiga, Yuichi Noto, Ikuko Mizuta, Akihiro Hashiguchi, Hiroshi Takashima, Masanori Nakagawa |
Journal | Journal of the peripheral nervous system : JPNS
(J Peripher Nerv Syst)
Vol. 17
Issue 2
Pg. 206-9
(Jun 2012)
ISSN: 1529-8027 [Electronic] United States |
PMID | 22734907
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2012 Peripheral Nerve Society. |
Chemical References |
- EGR2 protein, human
- Early Growth Response Protein 2
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Topics |
- Adolescent
- Charcot-Marie-Tooth Disease
(genetics, physiopathology)
- Early Growth Response Protein 2
(genetics)
- Electrophysiological Phenomena
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- Young Adult
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