A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
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患有轻度脱髓鞘型腓骨肌萎缩症家族中的一种新的 EGR2 突变
DOI：
10.1111/j.1529-8027.2012.00403.x
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发表时间：
2012
影响因子：
3.8
通讯作者：
Nakagawa M
中科院分区：
文献类型：
--
作者：
Shiga K;Noto Y;Mizuta I;Hashiguchi A;Takashima H;Nakagawa M
在多种重度脱髓鞘性神经病中报告了早期生长反应2（EGR 2）基因突变，如常染色体隐性遗传先天性髓鞘生成不足神经病、常染色体显性遗传儿童发病Dejerine-Sottas神经病和常染色体显性遗传成人发病Charcot-玛丽-图思病（CMT）。在此，我们报告了一个成人型轻度脱髓鞘型CMT家族的EGR 2（c.1160C>A）杂合突变，该突变导致387位苏氨酸变为天冬酰胺。值得注意的是，先证者和她的无症状儿子都没有表现出高脚或香槟瓶腿萎缩，这表明杂合子T387 N突变可能导致相对轻度的脱髓鞘CMT表型。
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 inEGR2(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.