MT-ATP6基因突变致Leigh综合征一家系研究  

Leigh syndrome caused by MT-ATP6 gene mutation:Pedigree study

作　　者：刘军[1] 刘芳[2] Liu Jun;Liu Fang(Department of Neurology, Department of Pediatrics, the 980th Hospital of the People's Liberation Army Joint Service Support Force, Hebei Province, Shijiazhuang 050082, China)

机构地区：[1]中国人民解放军联勤保障部队第980医院神经内科,石家庄050082 [2]中国人民解放军联勤保障部队第980医院儿科,石家庄050082

出　　处：《疑难病杂志》2020年第7期682-685,共4页Chinese Journal of Difficult and Complicated Cases

基　　金：河北省重点研发计划项目——健康医疗与生物医药专项(182777128D)。

摘　　要：Leigh综合征是与基因突变密切相关的一类线粒体疾病。文章通过回顾一家系中2例Leigh综合征患者的临床资料及基因检测结果,寻找可能的致病基因。对先证者及其母亲进行线粒体全基因组测序,并对其胞兄进行线粒体突变基因验证。结果发现,先证者及其胞兄血液样本中均检测到编码线粒体ATP6蛋白的基因突变m.8993T>G(p.L156R),先证者突变负荷为97.3%,其胞兄为93.7%,两者临床表型均符合Leigh综合征。先证者母亲血液样本中检测到相同的致病性突变,突变负荷为62.1%,表型正常。提示该突变来自母亲,符合线粒体母系遗传疾病的遗传方式。因此对临床表现疑似Leigh综合征的患者应尽早进行基因检测以明确诊断。Leigh syndrome is a type of mitochondrial disease closely related to gene mutations.By reviewing the clinical data and genetic test results of 2 patients with Leigh syndrome in a family,the article looks for possible pathogenic genes.Sequencing the mitochondrial genome of probands and their mothers,and verifying the mitochondrial mutant genes of their brothers.The results showed that the blood samples of probands and their siblings were detected mutations in the gene encoding mitochondrial ATP6 protein m.8993T>G(p.L156R),the mutation load of the proband was 97.3%,and its sibling was 93.7%,Both clinical phenotypes are consistent with Leigh syndrome.The same pathogenic mutation was detected in the blood sample of the mother of the proband,the mutation load was 62.1%,and the phenotype was normal.It is suggested that the mutation comes from the mother,which is consistent with the inheritance of mitochondrial maternal genetic diseases.Therefore,patients with suspected Leigh syndrome should undergo genetic testing as soon as possible to confirm the diagnosis.

关 键 词：ATP6蛋白基因 LEIGH综合征 基因突变 家系分析 

分 类 号：R73[医药卫生—肿瘤]