[HSPB8基因突变所致2A型远端遗传性运动神经病家系分析]
[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].
作者信息
Li Gang, Fu Jun, Pang Mi, Song Jia, Ma Mingming, Zhang Jiewen
机构信息
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10;39(6):621-624. doi: 10.3760/cma.j.cn511374-20210528-00450.
OBJECTIVE
To explore phenotypic and mutational characteristics of a pedigree with distal hereditary motor neuropathy (dHMN).
METHODS
Clinical data of the proband and her family members was collected. Electrophysiology, muscle biopsy and whole exome sequencing were carried out for the proband.
RESULTS
Patients of the family mainly presented with distal lower limb weakness. Electrophysiological test of the proband revealed distal motor neuropathy and sensory nerves were normal. Muscle biopsy suggested neurogenic atrophy of muscle fibers. Genetic analysis revealed a heterozygous c.421A>G (p.K141E) mutation in exon 2 of the HSPB8 gene, which was a hot spot mutation.
CONCLUSION
This family was the first reported HSPB8 related dHMN2A in Chinese population, and p.K141E was the causative mutation, which enriched the mutational spectrum of dHMN in China.
目的
探讨一个遗传性远端运动神经病（dHMN）家系的表型和突变特征。
方法
收集先证者及其家庭成员的临床资料。对先证者进行电生理检查、肌肉活检和全外显子测序。
结果
该家系患者主要表现为下肢远端无力。先证者的电生理检查显示为远端运动神经病，感觉神经正常。肌肉活检提示肌纤维神经源性萎缩。基因分析显示HSPB8基因第2外显子存在杂合的c.421A>G（p.K141E）突变，此为热点突变。
结论
该家系是中国人群中首次报道的与HSPB8相关的dHMN2A，p.K141E为致病突变，丰富了中国dHMN的突变谱。
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