MT-TL1基因m.3252A>G变异致MELAS综合征一例并文献复习  

MELAS syndrome caused by A3252G mutation in MT-TL1 gene:One case report and literature review

作　　者：王思敏 吴海瑛[1] 宋梦佳 谢蓉蓉[1] 王凤云[1] 孙辉[1] 陈秀丽[1] 王晓艳 陈临琪[1] 王红英[2,3] 陈婷 Wang Simin;Wu Haiying;Song Mengjia;Xie Rongrong;Wang Fengyun;Sun Hui;Chen Xiuli;Wang Xiaoyan;Chen Linqi;Wang Hongying;Chen Ting(Department of Endocrinology,Genetics and Metabolism,Children′s Hospital of Soochow University,Suzhou 215000,China;Department of Clinical Laboratory,Children′s Hospital of Soochow University,Suzhou 215000,China;Department of Clinical Laboratory,Wujiang District Children′s Hospital,Suzhou 215000,China)

机构地区：[1]苏州大学附属儿童医院内分泌遗传代谢科,苏州215000 [2]苏州大学附属儿童医院检验科,苏州215000 [3]苏州市吴江区儿童医院检验科,215200

出　　处：《中华内分泌代谢杂志》2022年第12期1090-1094,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：江苏省卫生健康委科研项目(M2021082)。

摘　　要：线粒体脑肌病伴高乳酸血症、卒中样发作综合征(mitochondrial encephalopathy,lactic acidosis,and stroke-like episodes,MELAS)是最常见的原发性线粒体疾病之一。本文报道了1例罕见的由m.3252A>G(MT-TL1基因)突变导致的MELAS综合征。先证者为6岁女童,以反复抽搐和高乳酸血症为主要表现,线粒体DNA(mtDNA)基因测序示患儿及其母亲和外婆均携带m.3252A>G(MT-TL1基因)变异,该变异在患儿外周血和尿沉渣中的异质率分别为66.53%和97.42%,明显高于母系亲属。结合国外已报道的3个家系资料,该变异评级为致病性变异。通过复习国内外文献,探讨了MT-TL1基因致病变异的基因型-表型相关性。Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS)is one of the most common inherited mitochondrial diseases.This paper reports a rare mutation associated with MELAS syndrome,the m.3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR).The 6-year-old girl suffered from recurrent convulsion and lactic acidemia.The mtDNA sequencing detected a variant m.3252A>G(MT-TL1 gene)in the proband and her maternal relatives.The heteroplasmic levels in peripheral blood and urine sediment were 66.53%and 97.42%,respectively,which were obviously higher than those of her maternal relatives.Together with 3 previously reported cases,the variant m.3252A>G could be classified pathogenic.All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

关 键 词：线粒体脑肌病 mtDNA 点突变 tRNA Leu(UUR) MT-TL1基因 

分 类 号：R725.9[医药卫生—儿科]