17p11.2拷贝数变异周围神经病的基因、临床及电生理分析  

Genetic,Clinical and Electrophysiological Analysis of 17p11.2 Copy Number Variation-Peripheral Neuropathy

作　　者：洪净梅 张小蓉[1] 高缘 张雨朵 何瑾[1] HONG Jingmei;ZHANG Xiaorong;GAO Yuan;ZHANG Yuduo;HE Jin(Department of Neurology,The First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China)

机构地区：[1]福建医科大学附属第一医院神经内科,福州350005

出　　处：《福建医科大学学报》2022年第6期535-539,共5页Journal of Fujian Medical University

摘　　要：目的分析17p11.2拷贝数变异相关遗传性周围神经病的基因、临床、电生理特点和表型-基因型特点。方法收集2001年10月—2021年11月115例就诊福建医科大学附属第一医院神经内科门诊患者,通过多重连接依赖的探针扩增(MLPA)确定为17p11.2拷贝数变异相关遗传性周围神经病,分析其基因、临床和电生理特点。结果115例17p11.2拷贝数变异相关遗传性周围神经病中,90例为17p11.2拷贝数重复变异,诊断为腓骨肌萎缩症1A型(CMT1A);25例为17p11.2拷贝数缺失变异,诊断为遗传性压力易感性周围神经病(HNPP)。2组患者的发病年龄比较,差别无统计学意义(P=0.318);2组患者在起病形式上,均以肌无力或同时出现肌无力及感觉异常或单纯性感觉异常起病,均以单纯性肌无力起病占多数;CMT1A患者肌萎缩、步态异常及畸形的发生率较HNPP患者高(P<0.001)。58例CMT1A患者及18例HNPP患者进行电生理检测,结果显示HNPP患者的神经传导检出率明显高于CMT1A患者(P<0.001),且波幅均较CMT1A患者高(P<0.0001)。结论17p11.2拷贝数变异相关遗传性周围神经病临床表现不一致,可分为CMT1A、HNPP,临床上经常出现误诊、漏诊。对于临床特征不典型的、神经电生理检查呈脱髓鞘表现的患者,排除获得性病因后,应检测17p11.2拷贝数变异甚至全外显子测序以明确诊断,为疾病诊断及遗传咨询提供依据。Objective To analyze the genetic,clinical,electrophysiological and phenotype-genotype characteristics of 17p11.2 copy number variation-associated inherited neuropathy.Methods Total 115 inherited neuropathy patients with 17p11.2 copy number variation detected by multiplex ligation-dependent probe amplification(MLPA)in the First Affiliated Hospital of Fujian Medical University from October 2001 to November 2021.The genetic,clinical and electrophysiological characteristics of these cases were further analyzed.Results Among the 115 patients with 17p11.2 copy number variation,90 patients were diagnosed as Charcot-Marie-Moie-type 1A(CMT1A),and 25 patients were diagnosed as hereditary stress-susceptible peripheral neuropathy(HNPP).There was no significant difference in the age of onset between CMT1A and HNPP patients(P=0.318).The onset forms of the two groups were muscle weakness,or both muscle weakness and paresthesia,or simple paresthesia,and simple muscle weakness accounted for the majority of the onset.However,the incidence of muscle atrophy,abnormal gait and deformity in CMT1A patients was higher than that in HNPP patients(P<0.001).Among them,58 CMT1A patients and 18 HNPP patients underwent electrophysiological examination.The results showed that the detection rate of nerve conduction in HNPP patients was significantly higher than that in CMT1A patients(P<0.001),and the amplitude of CMT1A patients was lower than that of HNPP patients(P<0.0001).Conclusion The clinical manifestations of 17p11.2 copy number variation-related hereditary peripheral neuropathy are inconsistent,which can be divided into CMT1A and HNPP.It is often misdiagnosed and missed in clinical practice.For patients with atypical clinical features and demyelination in neurophysiological examination,17p11.2 copy number variation testing or even whole exon suquencing should be performed to confirm the diagnosis after excluding acquired causes inorder to provide a basis for disease diagnosis and genetic counseling.

关 键 词：17p11.2腓骨肌萎缩症1A型 遗传性压力易感性周围神经病 PMP22基因 

分 类 号：R745[医药卫生—神经病学与精神病学]