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Article

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

Orphanet journal of rare diseases - 21 Aug 2024

Dong Qiyu, Yin Xiaojie, Fan Shuanglong, Zhong Sheng, Yang Wenxin, Chen Keer, Wang Qian, Ma Xue, Mahlatsi Refiloe Laurentinah, Yang Yanling, Lyu Jianxin, Fang Hezhi, Wang Ya

Abstract excerpt

BACKGROUND: Leigh syndrome (LS) is a common mitochondrial disease caused by mutations in both mitochondrial and nuclear genes. Isoleucyl-tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine-tRNA synthetase, and variants in IARS2 have been reported to cause LS. However, the pathogenic mechanism of IARS2 variants is still unclear. METHODS: Two unrelated patients, a 4-year-old boy and a 5-year-old boy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39169373
DOI: 10.1186/s13023-024-03310-x
PMCID: PMC11340112

Genes

IARS2

Variants

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