Mutations in RARS cause hypomyelination

Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167.

Nicole I Wolf ¹, Gajja S Salomons, Richard J Rodenburg, Petra J W Pouwels, Jolanda H Schieving, Terry G J Derks, Johanna M Fock, Patrick Rump, Daphne M van Beek, Marjo S van der Knaap, Quinten Waisfisz

Affiliations

Affiliation

1 Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

PMID: 24777941 DOI: 10.1002/ana.24167

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.

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