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Lookup NU author(s): Dr Kyle Thompson, Benjamin Munro, Dr Daria Diodato, Professor Rita HorvathORCiD, Professor Robert Taylor
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© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. In addition, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modeling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.
Author(s): Zheng W-Q, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou X-L, Taylor RW, Ostergaard E
Publication type: Article
Publication status: Published
Journal: Human Molecular Genetics
Year: 2022
Volume: 31
Issue: 4
Pages: 523-534
Print publication date: 15/02/2022
Online publication date: 11/09/2021
Acceptance date: 21/08/2021
ISSN (print): 0964-6906
ISSN (electronic): 1460-2083
Publisher: Oxford University Press
URL: https://doi.org/10.1093/hmg/ddab257
DOI: 10.1093/hmg/ddab257
PubMed id: 34508595
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