RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1‐related disease, and to identify possible genotype‐phenotype relationships.

[1]  R. Schiffmann,et al.  Diagnosis, prognosis, and treatment of leukodystrophies , 2019, The Lancet Neurology.

[2]  M. Mohammadpour,et al.  Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients , 2019, Neuropediatrics.

[3]  Do Young Hyeon,et al.  Evolution of the multi-tRNA synthetase complex and its role in cancer , 2019, The Journal of Biological Chemistry.

[4]  J. Lupski,et al.  Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish , 2019, Nature Communications.

[5]  Kiely N. James,et al.  Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy , 2019, Nature Communications.

[6]  C. Woods,et al.  Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development , 2018, Brain : a journal of neurology.

[7]  I. Thiffault,et al.  Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. , 2018, American journal of human genetics.

[8]  R. Taft,et al.  A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy , 2017, Brain : a journal of neurology.

[9]  K. Girisha,et al.  Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis , 2017, Journal of Human Genetics.

[10]  E. Bertini,et al.  UFM1 founder mutation in the Roma population causes recessive variant of H-ABC , 2017, Neurology.

[11]  N. Sobreira,et al.  Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease , 2017, European Journal of Human Genetics.

[12]  Thomas Meitinger,et al.  Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. , 2016, American journal of human genetics.

[13]  M. Hurles,et al.  Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. , 2016, American journal of human genetics.

[14]  A. Vanderver,et al.  Update on Leukodystrophies: A Historical Perspective and Adapted Definition , 2016, Neuropediatrics.

[15]  A. Vanderver,et al.  Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. , 2015, American journal of human genetics.

[16]  A. Vanderver,et al.  DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder , 2015, Neurology.

[17]  P. Pouwels,et al.  Mutations in RARS cause hypomyelination , 2014, Annals of neurology.

[18]  E. Bertini,et al.  Hypomyelinating leukodystrophies: Translational research progress and prospects , 2014, Annals of neurology.

[19]  C. Francklyn,et al.  Transfer RNA and human disease , 2014, Front. Genet..

[20]  C. Walsh,et al.  Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. , 2014, American journal of human genetics.

[21]  P. Lockhart,et al.  Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. , 2013, American journal of human genetics.

[22]  Peng Yao,et al.  Aminoacyl-tRNA synthetases in medicine and disease , 2013, EMBO molecular medicine.

[23]  A. Varshavsky.  The N‐end rule pathway and regulation by proteolysis , 2011, Protein science : a publication of the Protein Society.

[24]  O. Birk,et al.  Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. , 2010, American journal of human genetics.

[25]  Frederik Barkhof,et al.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders. , 2010, Brain : a journal of neurology.

[26]  Yong-Gang Zheng,et al.  Two forms of human cytoplasmic arginyl-tRNA synthetase produced from two translation initiations by a single mRNA. , 2006, Biochemistry.

[27]  Fr. Pelizaeus.  Ueber eine eigenthümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage. (Multiple Sklerose) , 1885, Archiv für Psychiatrie und Nervenkrankheiten.

[28]  A. Mccarthy.  Development , 1996, Current Opinion in Neurobiology.

[29]  L. Merzbacher.  Eine eigenartige familiär-hereditäre erkrankungsform (Aplasia axialis extracorticalis congenita) , 1910 .