Novel AARS2 gene mutation producing leukodystrophy: A case report

Journal of Human Genetics

Volumn 62, Issue 2, 2017, Pages 329-333

  Szpisjak, Laszlo ^a   Zsindely, Nora ^a   Engelhardt, Jozsef I ^a   Vecsei, Laszlo ^a   Kovacs, Gabor G ^b   Klivenyi, Peter ^a  

^a UNIVERSITY OF SZEGED   (Hungary)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROLEPTIC AGENT; AARSD1 PROTEIN, HUMAN; ALANINE TRANSFER RNA LIGASE;

AARS2 GENE; ACALCULIA; ADULT; ARTICLE; BABINSKI REFLEX; BEHAVIOR CHANGE; BRADYKINESIA; CASE REPORT; COGNITIVE DEFECT; DYSARTHRIA; DYSGRAPHIA; DYSPHAGIA; EXTRAPYRAMIDAL SYMPTOM; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; HYPOKINESIA; LEUKODYSTROPHY; MALE; MANIA; MEDICAL HISTORY; NYSTAGMUS; PARANOIA; PERSONALITY DISORDER; RIGOR; SUCKING; TENDON REFLEX; ABNORMALITIES; FEMALE; GENETICS; LEUKOENCEPHALOPATHIES; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; PREMATURE OVARIAN FAILURE; WHITE MATTER;

ADULT; ALANINE-TRNA LIGASE; COGNITION DISORDERS; FEMALE; GENETIC TESTING; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; WHITE MATTER;

EID: 85010917050     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.126     Document Type: Article

References (9)

1. Watanabe, K. Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases. Proc. Jpn. Acad. Ser. B Phys. Biol. Sci. 86, 11-39 (2010)
2. Konovalova, S. &Tyynismaa, T. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol. Genet. Metab. 108, 206-211 (2013)
3. Diodato, D., Ghezzi, D. &Tiranti, V. The mitochondrial aminoacyl tRNA synthetases: genes and syndromes. Int. J. Cell Biol. 2014, 787956 (2014)
4. Götz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyötyläinen, T., Ojala, T. et al. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am. J. Hum. Genet. 88, 635-642 (2011)
5. Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J. et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci. Transl. Med. 4, 118ra10 (2012)
6. Taylor, R. W., Pyle, A., Griffin, H., Blakely, E. L., Duff, J., He, L. et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 312, 68-77 (2014)
7. Euro, L., Konovalova, S., Asin-Cayuela, J., Tulinis, M., Griffin, H., Horvath, R. et al. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Front. Genet. 6, 21 (2015)
8. Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S. et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-2071 (2014)
9. Hamatani, M., Jingami, N., Tsurusaki, Y., Shimada, S., Shimojima, K., Asada-Utsugi, M. et al. The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J. Hum. Genet. 61, 899-902 (2016)