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Article

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.

Human mutation - 1 Jul 2020

Galatolo Daniele, Kuo Molly E, Mullen Patrick, Meyer-Schuman Rebecca, Doccini Stefano, Battini Roberta, Lieto Maria, Tessa Alessandra, Filla Alessandro, Francklyn Christopher, Antonellis Anthony, Santorelli Filippo M

Abstract excerpt

Mutations in histidyl-tRNA synthetase (HARS1), an enzyme that charges transfer RNA with the amino acid histidine in the cytoplasm, have only been associated to date with autosomal recessive Usher syndrome type III and autosomal dominant Charcot-Marie-Tooth disease type 2W. Using massive parallel sequencing, we identified bi-allelic HARS1 variants in a child (c.616G>T, p.Asp206Tyr and c.730delG, p.Val244Cysfs*6)...

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PMID: 32333447
DOI: 10.1002/humu.24024
PMCID: PMC7323910

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