摘要
目的:探讨一个线粒体脑肌病家系临床表型的异质性并进行遗传学分析,为临床诊断提供依据。方法:对一例以阵发性胸闷、心慌伴呼吸困难起病的线粒体脑肌病的先证者及其家系,结合病史、实验室检查、影像学检查、病理检查及基因学检查及已有的文献报道,分析其家系临床表型的异质性并进行遗传学分析。结果:测序结果表明先证者及其女儿、外孙女线粒体基因组均存在chrM:3243A>G突变;该家系内临床症状差别较大,且与突变负荷无明显相关性。结论:线粒体脑肌病患者临床表型异质性大,对于临床表型复杂,以阵发性胸闷、心慌伴呼吸困难起病的患者,应排除线粒体脑肌病、询问家族史,建议行肌肉活检及基因突变筛查,以提高疾病临床诊断的准确率。
Aim:To investigate the clinical phenotypic heterogeneity and perform genetic analysis of a mitochondrial encephalomyopathy family,so as to provide evidence for clinical diagnosis.Methods:The medical history of the proband′s family,laboratory examinations,imaging studies,pathological examinations and genetic examinations were analyzed combining with existing literature reports,and the clinical phenotypic heterogeneity and genetics of the family were further discussed.Results:A chrM:3243A>G mutation was identified in the mitochondrial genome of the proband,her daughter and granddaughter.Furthermore,the clinical phenotypes in this family were quite different,which was not clearly relevant with the mutation loads.Conclusion:Patients with mitochondrial encephalomyopathy have large heterogeneity in clinical phenotype.For patients with complex clinical phenotype,such as paroxysmal chest tightness,palpitation accompanied by dyspnea,mitochondrial encephalomyopathy should be ruled out.Family history should be paid attention.Muscle biopsy and genetic mutation screening are recommended to improve the clinical diagnosis rate of the disease.
作者
范丽媛
毛澄源
秦洁
史长河
郑惠敏
胡新超
张槊
胡正威
范雨
董亚丽
杨靖
许予明
FAN Liyuan;MAO Chengyuan;QIN Jie;SHI Changhe;ZHENG Huimin;HU Xinchao;ZHANG Shuo;HU Zhengwei;FAN Yu;DONG Yali;YANG Jing;XU Yuming(Department of Neurology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;The Academy of Medical Sciences,Zhengzhou University,Zhengzhou 450052)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2020年第6期796-801,共6页
Journal of Zhengzhou University(Medical Sciences)
基金
国家重点研发计划(2017YFA0105003)
国家自然科学基金项目(81530037,91849115,81771290,81974211,81901300)。
关键词
线粒体脑肌病
目标序列捕获测序
基因诊断
mitochondrial encephalomyopathy
target sequence capture sequencing
genetic diagnosis
