Genetic Analysis of MEL AS Syndrome Complicated with Focal Segmental Glomerular Sclerosis in a Pedigree
LI Suyi
CAO Jun
WANG Qingbing
JIAO Zhihui
REN Shumin
GAO Xu
QUAN Songxia
ZHANG Jiwei
LIU Jingjing
CHEN Yibing
Abstract：Objective To analyze the genetic etiology of mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS)syndrome complicated with focal segmental glomerular sclerosis(FSGS)in a pedigree.Methods The proband,female,36 years old,presented with typical MELAS syndrome with FSGS,while her daughter was suffered from epilepsy,clinical analysis showed that mitochondrial diseases could not be excluded.High throughput sequencing was used to analyze associated genetic variants of the proband.Probable pathogenic variants were validated using Sanger sequencing in the proband and related members of the pedigreem.Results m.3243 A＞G mutation in the mtDNA was detected in both the proband and her daughter,but not in her mother.Conclusion This study concluded that m.3243A＞G mutation was the molecular etiology of the MELAS syndrome and FSGS in the proband,was also the etiology of the epilepsy in her daughter.
Keywords：MELAS syndromemitochondrial diseasesmitochondrial DNAfocal segmental glomerular sclerosisepilepsyhigh throughput sequencing
Publication Date：2024-10-31
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：7( 3661-3667 )