Dominant <i>NARS1</i> mutations causing axonal Charcot-Marie-Tooth disease expand <i>NARS1</i>-associated diseases.

ABSTRACT: Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase (NARS1) cause a neurological phenotype combining developmental delay, ataxia and demyelinating peripheral neuropathy. NARS1 has not yet been linked to axonal Charcot-Marie-Tooth disease. Exome sequencing of patients with inherited peripheral neuropathies revealed three previously unreported heterozygous NARS1 variants in three families. Clinical and electrophysiological details were assessed. We further characterized all three variants in a yeast complementation model and used a knock-in mouse mode

SUBMITTER: Beijer D 

PROVIDER: S-EPMC10943570 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature