腓骨肌萎缩症2A型一晚发家系临床表现及遗传学分析  

Clinical and genetic analysis of one late-onset family with Charcot–Marie–Tooth type 2A:Case report

作　　者：李文武 黄立凡 张小超 李志宏 黄小琴[2] 孙浩[2] LI Wen-wu;HUANG Li-fan;ZHANG Xiao-chao;LI Zhi-hong;HUANG Xiao-qin;SUN Hao(Department of Neurology,People’s Hospital of Chuxiong Yi Autonomous Prefecture,Chuxiong 675000,China;Institute of Medical Biology,Chinese Academy of Medical Sciences,Kunming 650118,China;School of Pharmaceutical Sciences,Yunnan Provincial Key Laboratory of Pharmacology for Natural Products,Kunming Medical University,Kunming 650500,China)

机构地区：[1]云南省楚雄彝族自治州人民医院神经内一科,云南楚雄675000 [2]中国医学科学院&北京协和医学院医学生物学研究所,遗传室,云南昆明650118 [3]昆明医科大学药学院,云南省天然药物药理重点实验室,云南昆明650500

出　　处：《海南医学院学报》2021年第8期626-629,共4页Journal of Hainan Medical University

基　　金：云南省地方本科高校(部分)基础研究面上项目(2018FH001-082);云南省应用基础研究计划重点项目(2018FA010);国家自然基金面上项目(31571304);云南省高层次卫生健康技术人才培养专项经费资助(D-2018013);科技人才与平台计划;高层次科技人才及创新团队选拔专项-中青年学术和技术带头人后备人才项目(202005AC160011)。

摘　　要：目的:分析晚发型常染色体显性遗传腓骨肌萎缩症(Charcot–Marie–Tooth,CMT)2A型征象病例的临床和遗传学特点。方法:采用家族谱系调查结合临床及基因检测进行整合分析。结果:先证者双侧臀部、双侧大腿肌群萎缩,双小腿后侧肌群明显萎缩,血清肌酸激酶值272 U/L,肌电图显示正中神经传导速度正常,双下肢神经源性损害(轴索为主)。基因检测发现MFN2基因外显子9的序列变异NM_014874:c.839G> A(p.R280H)杂合突变。先证者父亲存在外周神经-肌肉受累症状,母亲无临床症状。父亲携带相同杂合突变,母亲并未携带该突变。结论:家族谱系调查结合临床及基因检测是诊断晚发型CMT2A的可靠方法,有助于明确诊断不同类型的神经肌肉疾病。Objective:To analyze the clinical and genetic characteristics of one late-onset family with Charcot–Marie–Tooth(CMT)type 2A.Methods:Pedigree survey combined with clinical and genetic testing was used for integrated analyses.Results:The proband showed muscle atrophy in both hips and thighs,especially in posterior sides of both legs.The value of serum creatine kinase was 272 U/L.Electromyography demonstrated that the median nerve conduction velocity was normal and the nerves of both lower extremities showed neurogenic damage(mainly axonal).Moreover,genetic testing revealed a heterozygous variant in exon 9 of the MFN2 gene NM_014874:c.839G>A(p.R280H).The father of the proband had similar peripheral neuromuscular symptoms and the same heterozygous mutation,while the mother did not show such clinical symptoms without genetic mutation.Conclusion:Pedigree investigation combined with clinical and genetic analysis is a reliable method for diagnosis of lateonset CMT2A and helpful to identify different neuromuscular diseases.

关 键 词：腓骨肌萎缩症2A型 MFN2基因 NM_014874:c.839G>A(p.R280H) 

分 类 号：R746.4[医药卫生—神经病学与精神病学]