Neurogenetics, Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Neuromuscular Section, University Hospital of Ribeirão Preto, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
J Peripher Nerv Syst. 2019 Jun;24(2):207-212. doi: 10.1111/jns.12327.
Mutations in the GJB1 gene are the second most frequent cause of Charcot-Marie-Tooth disease (CMT), accounting for approximately 10% of CMT cases worldwide. We retrospectively analyzed detailed clinical and neurophysiological data on four Brazilian families carrying novel mutations of the GJB1 gene. Mutations were identified by bidirectional Sanger sequence analysis on the GJB1 coding region. We identified a total of 12 subjects from four different kindred. There was no male-to-male transmission, and their clinical pictures were within the expected spectrum for GJB1-related neuropathy. Males were more severely affected than females. Five out of the eight females only had subclinical neuropathy. Nerve conduction velocities were in the intermediate range in the male patients and higher in the females affected. These mutations increase the genotypic variability associated with GJB1.
GJB1 基因突变是 Charcot-Marie-Tooth 病（CMT）的第二大常见病因，约占全球 CMT 病例的 10%。我们回顾性分析了携带 GJB1 基因突变的 4 个巴西家系的详细临床和神经生理学数据。通过对 GJB1 编码区的双向 Sanger 测序分析鉴定突变。我们从四个不同的家系中共鉴定出 12 名受试者。没有男性到男性的传播，他们的临床表现符合 GJB1 相关神经病的预期谱。男性比女性受影响更严重。8 名女性中有 5 名仅有亚临床神经病。男性患者的神经传导速度处于中间范围，而受影响的女性患者的神经传导速度更高。这些突变增加了与 GJB1 相关的基因型变异性。
