HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsKensuke Shiga, Yuichi Noto, Ikuko Mizuta, Akihiro Hashiguchi, Hiroshi Takashima, Masanori Nakagawa
JournalJournal 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
PMID22734907 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Copyright© 2012 Peripheral Nerve Society.
Chemical References
  • EGR2 protein, human
  • Early Growth Response Protein 2
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

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: