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Novel NARS2 variant causing leigh syndrome with normal lactate levels.

ABSTRACT: Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh syndrome.

SUBMITTER: Tanaka R

PROVIDER: S-EPMC9068749 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Tanaka Ryosuke R Takeguchi Ryo R Kuroda Mami M Suzuki Nao N Makita Yoshio Y Yanagi Kumiko K Kaname Tadashi T Takahashi Satoru S

Human genome variation 20220504 1

Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation. Whole-exome sequencing identified pathogenic variants in NARS2, the gene encoding a mitochondrial asparaginyl-tRNA synthetase. One of the biallelic variants was novel. This highlights the essential role of genetic testing for a definite diagnosis of Leigh ...[more]

PMID: 35508527

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