Mutations in RARS Cause Hypomyelination

N.I. Wolf; G.S. Salomons; R.J. Rodenburg; P.J.W. Pouwels; J.H. Schieving; T.G.J. Derks; J.M. Fock; P. Rump; D.M. van Beek; M.S. van der Knaap; Q. Waisfisz

doi:10.1002/ana.24167

Mutations in RARS Cause Hypomyelination

N.I. Wolf, G.S. Salomons, R.J. Rodenburg, P.J.W. Pouwels, J.H. Schieving, T.G.J. Derks, J.M. Fock, P. Rump, D.M. van Beek, M.S. van der Knaap, Q. Waisfisz

Research output: Contribution to Journal › Article › Academic › peer-review

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. Ann Neurol 2014;76:134-139 © 2014 American Neurological Association.

Original language	English
Pages (from-to)	134-139
Journal	Annals of Neurology
Volume	76
Issue number	1
DOIs	https://doi.org/10.1002/ana.24167
Publication status	Published - 2014

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title = "Mutations in RARS Cause Hypomyelination",

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. Ann Neurol 2014;76:134-139 {\textcopyright} 2014 American Neurological Association.",

author = "N.I. Wolf and G.S. Salomons and R.J. Rodenburg and P.J.W. Pouwels and J.H. Schieving and T.G.J. Derks and J.M. Fock and P. Rump and {van Beek}, D.M. and {van der Knaap}, M.S. and Q. Waisfisz",

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doi = "10.1002/ana.24167",

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T1 - Mutations in RARS Cause Hypomyelination

AU - Wolf, N.I.

AU - Salomons, G.S.

AU - Rodenburg, R.J.

AU - Pouwels, P.J.W.

AU - Schieving, J.H.

AU - Derks, T.G.J.

AU - Fock, J.M.

AU - Rump, P.

AU - van Beek, D.M.

AU - van der Knaap, M.S.

AU - Waisfisz, Q.

PY - 2014

Y1 - 2014

N2 - 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. Ann Neurol 2014;76:134-139 © 2014 American Neurological Association.

AB - 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. Ann Neurol 2014;76:134-139 © 2014 American Neurological Association.

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DO - 10.1002/ana.24167

M3 - Article

SN - 0364-5134

VL - 76

SP - 134

EP - 139

JO - Annals of Neurology

JF - Annals of Neurology

IS - 1

ER -

Mutations in RARS Cause Hypomyelination

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