摘要
目的分析1个远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)家系临床特征和基因变异特点。方法收集该家系先证者及其他成员的临床资料,对先证者进行神经电生理检查、肌肉活检病理检查和全外显子测序检查。结果该家系主要表现为远端型肌无力,先证者电生理提示远端型运动神经病,不伴感觉神经受累,肌肉病理提示神经源性肌萎缩,基因检测发现HSPB8基因第2外显子存在c.421A>G(p.K141E)杂合变异,为该基因的热点突变。结论HSPB8基因变异相关dHMN2A在国内尚未见报道,p.K141E为其致病性变异,本研究结果丰富了国内dHMN突变谱系。
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.
作者
李刚
付俊
庞咪
宋佳
马明明
张杰文
Li Gang;Fu Jun;Pang Mi;Song Jia;Ma Mingming;Zhang Jiewen(Department of Neurology,Henan Provincial People’s Hospital,Zhengzhou,Henan 450003,China;Department of Neurological Diseases,Central China Fuwai Hospital,Zhengzhou,Henan 450003,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第6期621-624,共4页
Chinese Journal of Medical Genetics
