腓骨肌萎缩症一家系的临床特征与突变基因分析  

Clinical features and gene mutation analysis of one family with Charcot-Marie-Tooth disease

作　　者：李爽 朱梅佳[1] 唐吉友[1] 张小雨 张霄 刘小民[1] LI Shuang;ZHU Meijia;TANG Jiyou;ZHANG Xiaoyu;ZHANG Xiao;LIU Xiaomin(Department of Neurology,the First Affiliated Hospital of Shandong First Medical University(Shandong Provincial Qianfoshan Hospital),Jinan 250014,China)

机构地区：[1]山东第一医科大学第一附属医院(山东省千佛山医院)神经内科,济南250014

出　　处：《山东医药》2021年第25期14-17,共4页Shandong Medical Journal

基　　金：山东省自然科学基金资助项目(ZR2013HQ016);山东省重点研发计划项目(2015GGH318011)。

摘　　要：目的分析腓骨肌萎缩症(CMT)一家系的临床特征与突变基因。方法回顾性分析1例CMT患者的临床特征并对其一级亲属进行家系调查。采用多重连接依赖式探针扩增技术分析该家系成员的突变基因,然后进行一代DNA测序验证。结果本例CMT患者青年发病,临床特征主要为缓慢进行性四肢远端肌无力伴肌萎缩,同时出现腱反射降低或消失;脑脊液检查白细胞计数和总蛋白水平轻度升高,肌电图检查四肢感觉和运动传导速度减慢或引不出波。该家系共两代4人,均为山东省常住居民,汉族,共发现1例CMT患者。突变基因分析发现,CMT患者同时存在缝隙连接蛋白B1(GJB1)基因c. 44 G→A(Arg15Gln)半合子突变和外周轴蛋白(PRX)基因c. 3208 C→G(Arg1070Gly)杂合变异;CMT患者姐姐同时存在GJB1基因c. 44 G→A(Arg15Gln)杂合突变和PRX基因c. 3208 C→G(Arg1070Gly)杂合变异;CMT患者母亲存在GJB1基因c. 44 G→A(Arg15Gln)杂合突变;CMT患者父亲存在PRX基因c. 3208 C→G(Arg1070Gly)杂合变异。结论本例CMT患者临床特征主要为缓慢进行性四肢远端肌无力伴肌萎缩,同时出现腱反射降低或消失;脑脊液检查白细胞计数和总蛋白水平轻度升高,肌电图检查四肢感觉和运动传导速度减慢或引不出波;本例CMT患者同时存在GJB1基因c. 44 G→A半合子突变和PRX基因c. 3208 C→G杂合变异,GJB1基因c. 44 G→A半合子突变为其致病性突变。Objective To investigate the clinical features and gene mutations of a pedigree with Charcot-Marie-Tooth disease(CMT).Methods A patient with CMT was selected.The clinical characteristics of the patient were ana⁃lyzed retrospectively and his first-degree relatives were investigated.The mutant genes of the family members were ana⁃lyzed by multiple ligation-dependent probe amplification technique,and then were verified by first-generation DNA se⁃quencing.Results The patient was in his youth at the onset of CMT.The clinical manifestations were characterized by slow progressive muscle weakness of the distal extremities with muscle atrophy and decrease or disappearance of tendon re⁃flex.The detection of biochemical indexes of cerebrospinal fluid showed that the white blood cell count and total protein in⁃creased,and electromyography showed that the sensory and motor conduction velocities of the upper and lower extremities slowed down or could not induce response waves.The family with a total of two generations of four people were permanent residents in Shandong province,Han nationality,and only one case was CMT patient.The disease gene mutation analysis showed that the patient had a GJB1 gene c.44 G→A(Arg15Gln)hemizygote mutation and a new PRX gene c.3208 C→G(Arg1070Gly)heterozygous variation.The sister of the patient had both heterozygous mutation of GJB1 gene c.44 G→A(Arg15Gln)and heterozygous variation of PRX gene c.3208 C→G(Arg1070Gly).The mother of the patient had a hetero⁃zygous mutation of GJB1 gene c.44 G→A(Arg15Gln).The father of the proband had a heterozygous variation of PRX gene c.3208 C→G(Arg1070Gly).Conclusions The clinical features of this patient with CMT are slowly progressive distal muscle weakness with muscle atrophy and decrease or disappearance of tendon reflex.The white blood cell count and total protein level increase slightly in the cerebrospinal fluid examination,and the sensory and motor conduction veloci⁃ty of limbs decrease or could not induce waves by electromyogra

关 键 词：腓骨肌萎缩症 基因突变 缝隙连接蛋白B1 外周轴蛋白 

分 类 号：R746[医药卫生—神经病学与精神病学]