Hu Guanqun, Zhang Lvming, Zhang Mingjie, Yang Chunxiao, Nie Xiting, Xiang Feng, Chen Li, Dong Zhao, Yu Shengyuan
Department of Neurology, Chinese PLA General Hospital, Beijing, 100853, China; School of Medicine, Nankai University, Tianjin, 300071, China.
Department of Neurology, Chinese PLA General Hospital, Beijing, 100853, China; Department of Neurology, Aerospace Center Hospital, Beijing, 100049, China.
Clin Neurol Neurosurg. 2019 May;180:68-73. doi: 10.1016/j.clineuro.2019.03.018. Epub 2019 Mar 28.
Gap junction protein beta-1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth Type 1 (CMTX1). We studied a Chinese family with CMTX1 and identified a novel GJB1 point mutation. Our patient had a transient stroke-like clinical manifestations and magnetic resonance imaging (MRI) changes. An analysis of the genomic DNA of the proband showed a T to C hemizygous mutation in the GJB1 gene at nucleotide position 380, causing a predicted amino acid change from isoleucine to threonine at codon 127, which predicted structural alterations disrupting the function of the GJB1 protein. This novel point mutation expanded the spectrum of GJB1 mutations known to be associated with CMTX1. We performed a PubMed review of CMTX cases with central nervous system involvement in the English-language literature from the past 20 years, and summarized the demographic data, nucleotide and amino acid changes, clinical characteristics, clinical manifestations, and neuroimaging features.
缝隙连接蛋白β-1（GJB1）基因突变导致X连锁型腓骨肌萎缩症1型（CMTX1）。我们研究了一个患有CMTX1的中国家系，并鉴定出一种新的GJB1点突变。我们的患者有短暂性中风样临床表现和磁共振成像（MRI）改变。对先证者的基因组DNA分析显示，GJB1基因在核苷酸位置380处存在T到C的半合子突变，导致密码子127处预测的氨基酸从异亮氨酸变为苏氨酸，这预测会导致结构改变，破坏GJB1蛋白的功能。这种新的点突变扩展了已知与CMTX1相关的GJB1突变谱。我们对过去20年英文文献中涉及中枢神经系统受累的CMTX病例进行了PubMed综述，并总结了人口统计学数据、核苷酸和氨基酸变化、临床特征、临床表现及神经影像学特征。
