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Article

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal of molecular medicine (Berlin, Germany) - 1 Dec 2021

Averdunk Luisa, Sticht Heinrich, Surowy Harald, Lüdecke Hermann-Josef, Koch-Hogrebe Margarete, Alsaif Hessa S, Kahrizi Kimia, Alzaidan Hamad, Alawam Bashayer S, Tohary Mohamed, Kraus Cornelia, Endele Sabine, Wadman Erin, Kaplan Julie D, Efthymiou Stephanie, Najmabadi Hossein, Reis André, Alkuraya Fowzan S, Wieczorek Dagmar

Abstract excerpt

Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRSMini and C-terminal EMAP-II-like domain) which confer cytokine-like...

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Identifiers

PMID: 34536092
DOI: 10.1007/s00109-021-02124-9
PMCID: PMC8599376

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