Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

BMC Medical Genetics

Chi Hou¹  Jinliang Li¹  Bingwei Peng¹  Wen-Xiong Chen¹  Yinting Liao¹  Wenxiao Wu¹  Xiaojing Li¹  Yiru Zeng¹  Yang Tian¹ 

[1] Department of Neurology, Guangdong Province, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, 9# Jin Sui Road, 510623, Guangzhou, People’s Republic of China;

关键词: Mitochondrial diseases;    Encephalomyopathy;    TARS2;    Whole genome sequencing;    Case report;   

DOI  :  10.1186/s12881-020-01149-0

来源: Springer

【 摘 要 】

BackgroundMitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs further study.Case presentationWe report one infant who presented with limb hypertonia, epilepsy, developmental delay, and increased serum lactate from a non-consanguineous Chinese family. Whole-genome sequencing was performed to help to underlie the cause. We identified compound heterozygous variants c.470C > G, p.Thr157Arg and c.2143G > A, p.Glu715Lys in TARS2 and the variants were confirmed by Sanger sequencing. The patient was diagnosed with combined oxidative phosphorylation deficiency 21 according to the Online Mendelian Inheritance in Man (OMIM) database based on the clinical data and the deleterious effect of the two variants in TARS2 predicted by in silico tools.ConclusionsWe presented one case diagnosed with combined oxidative phosphorylation deficiency 21 based on clinical characteristics and genetic analysis. This is the first case in China and the fourth case in the world based on our document retrieval. This study facilitates the understanding of combined oxidative phosphorylation deficiency disease and demonstrates that the next-generation sequencing has a high potential to study inherited disease with high phenotypic heterogeneity and genetic heterogeneity including mitochondrial diseases such as combined oxidative phosphorylation deficiency.

【 授权许可】

CC BY