Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P
Department of Child Neurology, 2nd School of Medicine, Charles University Prague, V Uvalu 84, 15006 Prague, Czech Republic.
Neuromuscul Disord. 2005 Nov;15(11):764-7. doi: 10.1016/j.nmd.2005.08.001. Epub 2005 Sep 29.
Mutations in the early growth response 2 gene (EGR2) cause demyelinating neuropathies differing in severity and age of onset. We tested 46 unrelated Czech patients with dominant or sporadic demyelinating CMT neuropathy for mutations in the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was identified in heterozygous state in a patient with a typical CMT1 phenotype, progressive moderate thoracolumbar scoliosis and without clinical signs of cranial nerve dysfunction. This patient is presently less affected compared to previously described Dejerine-Sottas neuropathy (DSN) patients carrying another substitution at codon 359 (Arg359Trp, R359W). This report shows that EGR2 mutations are rare in Czech patients with demyelinating type of CMT and suggests that different substitutions at codon 359 of EGR2 can cause significantly different phenotypes.
早期生长反应2基因（EGR2）的突变会导致脱髓鞘性神经病，其严重程度和发病年龄各不相同。我们对46名患有显性或散发性脱髓鞘性CMT神经病的无关捷克患者进行了EGR2基因突变检测。在一名具有典型CMT1表型、进行性中度胸腰椎脊柱侧弯且无颅神经功能障碍临床体征的患者中，发现了一种新的杂合性新发突变（Arg359Gln，R359Q）。与先前描述的携带密码子359处另一种替代突变（Arg359Trp，R359W）的Dejerine-Sottas神经病（DSN）患者相比，该患者目前受影响较小。本报告表明，EGR2突变在捷克脱髓鞘型CMT患者中很少见，并提示EGR2密码子359处的不同替代突变可导致明显不同的表型。
