Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Molecular Genetics and Metabolism - Tập 133 - Trang 222-229 - 2021
Charles-Joris Roux1, Giulia Barcia2, Manuel Schiff3,4, Marie Sissler5, Raphaël Levy1, Volodia Dangouloff-Ros1, Isabelle Desguerre6, Shimon Edvardson7, Orli Elpeleg7, Agnès Rötig3, Arnold Munnich2,3, Nathalie Boddaert1,3
1Department of Paediatric Radiology, Hôpital Necker–Enfants Malades, Paris, France
2Department of Genetics, Hospital Necker–Enfants Malades, Paris, France
3Institut Imagine, INSERM UMR 1163, Paris, France
4Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University of Paris, Paris, France
5Institut Européen de Chimie et Biologie, INSERM U1212, CNRS UMR 5320, University of Bordeaux, Pessac, France
6Department of Neurology and Metabolism, Hôpital Necker–Enfants Malades, Paris, France
7Department of Genetics, Hadassah University Hospital, Jerusalem, Israel

Tài liệu tham khảo

Ibba, 2000, Aminoacyl-tRNA synthesis, Annu. Rev. Biochem., 69, 617, 10.1146/annurev.biochem.69.1.617 Antonellis, 2008, The role of aminoacyl-tRNA synthetases in genetic diseases, Annu. Rev. Genomics Hum. Genet., 9, 87, 10.1146/annurev.genom.9.081307.164204 Konovalova, 2013, Mitochondrial aminoacyl-tRNA synthetases in human disease, Mol. Genet. Metab., 108, 206, 10.1016/j.ymgme.2013.01.010 González-Serrano, 2019, When a common biological role does not imply common disease outcomes: disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases, J. Biol. Chem., 294, 5309, 10.1074/jbc.REV118.002953 Meyer-Schuman, 2017, Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease, Hum. Mol. Genet., 26, R114, 10.1093/hmg/ddx231 Steenweg, 2011, Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging, Brain, 134, 3333, 10.1093/brain/awr254 van der Knaap, 2017, Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms, Acta Neuropathol., 134, 351, 10.1007/s00401-017-1739-1 Fine, 2019, Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination, J. Neurodev. Disord., 11, 29, 10.1186/s11689-019-9292-y Al Balushi, 2020, Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic, JIMD Rep., 51, 3, 10.1002/jmd2.12079 Scheper, 2007, Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Nat. Genet., 39, 534, 10.1038/ng2013 Biancheri, 2015, Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a patient harboring a novel EARS2 mutation, Vol. 23, 85 Lakshmanan, 2017, Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy, Neurol Genet., 3, 10.1212/NXG.0000000000000135 Lynch, 2016, Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, JAMA Neurol., 73, 1433, 10.1001/jamaneurol.2016.2229 Srivastava, 2019, Expansion of the clinical spectrum associated with AARS2-related disorders, Am. J. Med. Genet. A, 179, 1556, 10.1002/ajmg.a.61188 Zhang, 2018, Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: a case report and review of the literature, Exp. Ther. Med., 15, 1099 Cassandrini, 2013, Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients, J. Inherit. Metab. Dis., 36, 43, 10.1007/s10545-012-9487-9 Wang, 2019, Novel alanyl-tRNA synthetase 2 pathogenic variants in leukodystrophies, Front. Neurol., 10, 1321, 10.3389/fneur.2019.01321 Kuo, 2020, Alanyl-tRNA synthetase 2 (AARS2)-related ataxia without leukoencephalopathy, Cerebellum, 19, 154, 10.1007/s12311-019-01080-y Takezawa, 2018, Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome, Brain Dev., 40, 934, 10.1016/j.braindev.2018.06.010 Virdee, 2019, Expanding the phenotype: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) due to WARS2 biallelic variants, encoding mitochondrial tryptophanyl-tRNA synthase, J. Child Neurol., 34, 778, 10.1177/0883073819854604 Seaver, 2018, Lethal NARS2-related disorder associated with rapidly progressive intractable epilepsy and global brain atrophy, Pediatr. Neurol., 89, 26, 10.1016/j.pediatrneurol.2018.07.014 Mizuguchi, 2017, PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder, J. Hum. Genet., 62, 525, 10.1038/jhg.2016.163 Sahai, 2018, FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei, Ann. Clin. Transl. Neurol., 5, 1128, 10.1002/acn3.598 Vantroys, 2017, New insights into the phenotype of FARS2 deficiency, Mol. Genet. Metab., 122, 172, 10.1016/j.ymgme.2017.10.004 Almannai, 2018, FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance, Mol. Genet. Metab., 125, 281, 10.1016/j.ymgme.2018.07.014 Sissler, 2017, Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease, Trends Mol. Med., 23, 693, 10.1016/j.molmed.2017.06.002 Kim, 2011, Aminoacyl-tRNA synthetases and tumorigenesis: more than housekeeping, Nat. Rev. Cancer, 11, 708, 10.1038/nrc3124 Guo, 2013, Essential nontranslational functions of tRNA synthetases, Nat. Chem. Biol., 9, 145, 10.1038/nchembio.1158 Wang, 2016, Wars2 is a determinant of angiogenesis, Nat. Commun., 7, 12061, 10.1038/ncomms12061 González-Serrano, 2018, Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations, J. Biol. Chem., 293, 13604, 10.1074/jbc.RA118.003400 Kevelam, 2016, Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL, Neuropediatrics, 47, 4 Danhauser, 2016, EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum, Metab. Brain Dis., 31, 717, 10.1007/s11011-016-9793-2 Ardissone, 2018, KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature, Orphanet J. Rare Dis., 13, 45, 10.1186/s13023-018-0788-4 Itoh, 2019, Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy, Brain, 142, 560, 10.1093/brain/awz001 van der Knaap, 2019, Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy, Neurology, 10.1212/WNL.0000000000007098 Linnankivi, 2016, Splicing defect in mitochondrial Seryl-tRNA synthetase gene causes progressive spastic paresis instead of HUPRA syndrome: HUMAN MUTATION, Hum. Mutat., 37, 884, 10.1002/humu.23021 Theisen, 2017, Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy, Am. J. Med. Genet., 173, 2505, 10.1002/ajmg.a.38339 Ardissone, 2014, A novel homozygous YARS2 mutation in two Italian siblings and a review of literature, Vol. 20, 95 Sommerville, 2017, Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy, JAMA Neurol., 9