Mutations in RARS cause hypomyelination.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24777941.
- Also identified by DOI 10.1002/ana.24167.
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Abstract
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination. Clinical features included severe spasticity and nystagmus. RARS encodes the cytoplasmic arginyl-tRNA synthetase, an enzyme essential for RNA translation. This protein is among the subunits of the multisynthetase complex, which emerges as a key player in myelination.
Medical subject headings
- Arginine-tRNA Ligase
- Leukoencephalopathies
- Mutation