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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Genes - 19 Jul 2024

Domínguez-Ruiz María, Olarte Margarita, Onecha Esther, García-Vaquero Irene, Gelvez Nancy, López Greizy, Villamar Manuela, Morín Matías, Moreno-Pelayo Miguel A, Morales-Angulo Carmelo, Polo Rubén, Tamayo Martha L, Del Castillo Ignacio

Abstract excerpt

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the KARS1, HARS2, LARS2 and NARS2 genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect...

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Identifiers

PMID: 39062730
DOI: 10.3390/genes15070951
PMCID: PMC11276111

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