Miao Yuanfeng, Yu Meng, Meng Lingchao, Zhang Wei, Lv He, Wang Zhaoxia, Yuan Yun
Clin Neuropathol. 2021 Nov-Dec;40(6):328-332. doi: 10.5414/NP301377.
Pleckstrin homology domain-containing family G member 5 () is a nuclear factor-κ-B-activator gene that predominantly expresses in the neurons and Schwann cells of the peripheral nervous system. Variations in the have shown an intermediate form of autosomal recessive Charcot-Marie-Tooth disease and lower motor neuron disease in childhood.
This study investigated clinically, electrophysiologically, genetically, and pathologically a young girl with lower motor neuron disease who had weakness and wasting of all limbs starting in early childhood.
Next-generation sequencing found a novel compound heterozygous missense variation c.2038-1G>A and c.1219G>T of gene. Electromyography revealed a neurogenic pattern, and nerve conduction study indicated subclinical sensory neuropathy. Sural biopsy showed hypomyelination, hypermyelination, and infolding myelin membranes coiled into the myelinated axon.
This study identifies, pathologically, novel compound heterozygous mutations and phenotype in -related lower motor neuron disease and dysmyelination in a patient with mutation.
含普列克底物蛋白同源结构域家族G成员5（）是一种核因子κB激活基因，主要在外周神经系统的神经元和施万细胞中表达。该基因的变异已显示出常染色体隐性遗传性夏科-马里-图斯病的中间形式以及儿童期的下运动神经元疾病。
本研究对一名患有下运动神经元疾病的年轻女孩进行了临床、电生理、基因和病理方面的调查，该女孩自幼儿期起就出现了四肢无力和萎缩。
二代测序发现该基因存在一种新的复合杂合错义变异c.2038 - 1G>A和c.1219G>T。肌电图显示为神经源性模式，神经传导研究表明存在亚临床感觉神经病变。腓肠神经活检显示髓鞘形成减少、髓鞘过度形成以及髓鞘膜折叠并卷入有髓轴突。
本研究在一名携带该基因突变的患者中，从病理上鉴定出与相关下运动神经元疾病及髓鞘形成异常相关的新的复合杂合突变和表型。
