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

VernacularTitle:MT-TL1基因m.3252A>G变异致MELAS综合征一例并文献复习
Author: Simin WANG ¹ ; Haiying WU ; Mengjia SONG ; Rongrong XIE ; Fengyun WANG ; Hui SUN ; Xiuli CHEN ; Xiaoyan WANG ; Linqi CHEN ; Hongying WANG ; Ting CHEN
Author Information

1. 苏州大学附属儿童医院内分泌遗传代谢科，苏州　215000
Keywords: Mitochondrial encephalomyopathy; mtDNA, point mutation; tRNA Leu(UUR); MT-TL1 gene
From: Chinese Journal of Endocrinology and Metabolism 2022;38(12):1090-1094
CountryChina
Language:Chinese
Abstract: 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.