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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10.1002/ana.24167

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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.

U2 - 10.1002/ana.24167

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

Abstract

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