Mutations in RARS cause hypomyelination

Nicole I. Wolf; 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

doi:https://doi.org/10.1002/ana.24167

Mutations in RARS cause hypomyelination

Nicole I. Wolf, 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

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

81 Citations (Scopus)

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

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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https://doi.org/10.1002/ana.24167

Cite this

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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",

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

year = "2014",

doi = "https://doi.org/10.1002/ana.24167",

language = "English",

volume = "76",

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T1 - Mutations in RARS cause hypomyelination

AU - Wolf, Nicole I.

AU - Salomons, Gajja S.

AU - Rodenburg, Richard J.

AU - Pouwels, Petra J. W.

AU - Schieving, Jolanda H.

AU - Derks, Terry G. J.

AU - Fock, Johanna M.

AU - Rump, Patrick

AU - van Beek, Daphne M.

AU - van der Knaap, Marjo S.

AU - Waisfisz, Quinten

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

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

U2 - https://doi.org/10.1002/ana.24167

DO - https://doi.org/10.1002/ana.24167

M3 - Article

C2 - 24777941

SN - 0364-5134

VL - 76

SP - 134

EP - 139

JO - Annals of neurology

JF - Annals of neurology

IS - 1

ER -