Title
A novel AARS mutation in a family with dominant myeloneuropathyA novel AARS mutation in a family with dominant myeloneuropathy
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
VIB DMG - Neurogenetics Group
VIB DMG - Molecular Neurogenomics
Publication type
article
Publication
Minneapolis, Minn,
Subject
Human medicine
Source (journal)
Neurology / American Academy of Neurology. - Minneapolis, Minn
Volume/pages
84(2015):20, p. 2040-2047
ISSN
0028-3878
ISI
000369760100010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Objective: To determine the genetic cause of neurodegeneration in a family with myeloneuropathy. Methods: We studied 5 siblings in a family with a mild, dominantly inherited neuropathy by clinical examination and electrophysiology. One patient had a sural nerve biopsy. After ruling out common genetic causes of axonal Charcot-Marie-Tooth disease, we sequenced 3 tRNA synthetase genes associated with neuropathy. Results: All affected family members had a mild axonal neuropathy, and 3 of 4 had lower extremity hyperreflexia, evidence of a superimposed myelopathy. A nerve biopsy showed evidence of chronic axonal loss. All affected family members had a heterozygous missense mutation c.304G>C (p.Gly102Arg) in the alanyl-tRNA synthetase (AARS) gene; this allele was not identified in unaffected individuals or control samples. The equivalent change in the yeast ortholog failed to complement a strain of yeast lacking AARS function, suggesting that the mutation is damaging. Conclusion: A novel mutation in AARS causes a mild myeloneuropathy, a novel phenotype for patients with mutations in one of the tRNA synthetase genes.
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Full text (open access)
https://repository.uantwerpen.be/docman/irua/f65886/132264.pdf
Handle