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A novel EGR2 mutation within a family with a mild demyelinating form of Charcot‐Marie‐Tooth disease
Author(s) -
Shiga Kensuke,
Noto Yuichi,
Mizuta Ikuko,
Hashiguchi Akihiro,
Takashima Hiroshi,
Nakagawa Masanori
Publication year - 2012
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2012.00403.x
Subject(s) - proband , pes cavus , tooth disease , medicine , mutation , asymptomatic , phenotype , genetics , missense mutation , disease , gene , biology , complication
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.