A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease

作者：Shiga Kensuke^*; Noto Yuichi; Mizuta Ikuko; Hashiguchi Akihiro; Takashima Hiroshi; Nakagawa Masanori

来源：Journal of the Peripheral Nervous System, 2012, 17(2): 206-209.

DOI：10.1111/j.1529-8027.2012.00403.x

• Charcot-Marie-Tooth disease
• demyelinating neuropathy
• EGR2 mutation
• heterozygous mutation
• mild phenotype

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%26gt;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.

• 出版日期2012-6