Mutations in RARS cause hypomyelination

Annals of Neurology

Volumn 76, Issue 1, 2014, Pages 134-139

  Wolf, Nicole I ^a,b   Salomons, Gajja S ^a   Rodenburg, Richard J ^c   Pouwels, Petra J W ^a,b   Schieving, Jolanda H ^c   Derks, Terry G J ^d   Fock, Johanna M ^e   Rump, Patrick ^e   Van Beek, Daphne M ^a   Van Der Knaap, Marjo S ^a,b,f   Waisfisz, Quinten ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Neuroscience Campus Amsterdam ^*  (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE TRANSFER RNA LIGASE; ASPARTATE TRANSFER RNA LIGASE; CHOLINE; LACTIC ACID; METHIONINE TRANSFER RNA LIGASE; MYELIN; N ACETYLASPARTIC ACID; PROTEIN; RARS PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; DEMYELINATION; DISEASE SEVERITY; DYSARTHRIA; DYSMETRIA; FEMALE; HUMAN; HYPOMYELINATION; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATION; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PATTERN RECOGNITION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PSEUDOBULBAR PALSY; SPASTICITY; TREMOR; WHITE MATTER;

ADULT; ARGININE-TRNA LIGASE; CHILD, PRESCHOOL; DEMYELINATING DISEASES; EXOME; FEMALE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84904820980     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24167     Document Type: Article

References (23)

1. Steenweg ME, Vanderver A, Blaser S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010; 133: 2971-2982.
2. Garbern JY,. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci 2007; 64: 50-65.
3. Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011; 89: 415-423.
4. Tetreault M, Choquet K, Orcesi S, et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet 2011; 89: 652-655.
5. Taft RJ, Vanderver A, Leventer RJ, et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet 2013; 92: 774-780.
6. Li H, Durbin R,. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760.
7. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303.
8. Wang K, Li M, Hakonarson H,. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
9. Neveling K, den Hollander AI, Cremers FP, Collin RW,. Identification and analysis of inherited retinal disease genes. Methods Mol Biol 2013; 935: 3-23.
10. Cailloux F, Gauthier-Barichard F, Mimault C, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 2000; 8: 837-845.
11. Wolf NI, Sistermans EA, Cundall M, et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005; 128: 743-751.
12. Zheng YG, Wei H, Ling C, et al. Two forms of human cytoplasmic arginyl-tRNA synthetase produced from two translation initiations by a single mRNA. Biochemistry 2006; 45: 1338-1344.
13. Kyriacou SV, Deutscher MP,. An important role for the multienzyme aminoacyl-tRNA synthetase complex in mammalian translation and cell growth. Mol Cell 2008; 29: 419-427.
14. Wolfe CL, Warrington JA, Treadwell L, Norcum MT,. A three-dimensional working model of the multienzyme complex of aminoacyl-tRNA synthetases based on electron microscopic placements of tRNA and proteins. J Biol Chem 2005; 280: 38870-38878.
15. Feinstein M, Markus B, Noyman I, et al. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet 2010; 87: 820-828.
16. Zhu X, Liu Y, Yin Y, et al. MSC p43 required for axonal development in motor neurons. Proc Natl Acad Sci U S A 2009; 106: 15944-15949.
17. Motley WW, Talbot K, Fischbeck KH,. GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci 2010; 33: 59-66.
18. Stum M, McLaughlin HM, Kleinbrink EL, et al. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol Cell Neurosci 2011; 46: 432-443.
19. Santos-Cortez RL, Lee K, Azeem Z, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 2013; 93: 132-140.
20. Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 2014; 94: 547-558.
21. Edvardson S, Shaag A, Kolesnikova O, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007; 81: 857-862.
22. Lee SW, Cho BH, Park SG, Kim S,. Aminoacyl-tRNA synthetase complexes: beyond translation. J Cell Sci 2004; 117: 3725-3734.
23. van Meel E, Wegner DJ, Cliften P, et al. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet 2013; 14: 106.