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Article

Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.

Journal of human genetics - 1 Dec 2023

Han Rui, Chu Manman, Gao Jinshuang, Wang Junling, Wang Mengyue, Ma Yichao, Jia Tianming, Zhang Xiaoli

Abstract excerpt

tRNA-histidine guanyltransferase 1-like protein (THG1L), located in the mitochondria, plays a crucial role in the tRNA maturation process. Dysfunction of THG1L results in abnormal mitochondrial tRNA modification and neurodevelopmental disorders. To date, few studies have focused on THG1L-related cerebellar ataxia. Whole-exome sequencing revealed compound heterozygous variants NM_017872.5: [c.224A > G];...

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PMID: 37670026
DOI: 10.1038/s10038-023-01192-8

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