Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
Tóm tắt
Từ khóa
Tài liệu tham khảo
Abbott, J. A ., Francklyn, C. S . & Robey-Bond, S. M . Transfer RNA and human disease. Front. Genet. 5, 158 (2014).
Konovalova, S . & Tyynismaa, H . Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol. Genet. Metab. 108, 206–211 (2013).
Wolf, N. I ., Salomons, G. S ., Rodenburg, R. J ., Pouwels, P. J ., Schieving, J. H . & Derks, T. G . et al. Mutations in RARS cause hypomyelination. Ann. Neurol. 76, 134–139 (2014).
Casey, J. P ., McGettigan, P ., Lynam-Lennon, N ., McDermott, M ., Regan, R . & Conroy, J . et al. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol. Genet. Metab. 106, 351–358 (2012).
Sofou, K ., Kollberg, G ., Holmström, M ., Dávila, M ., Darin, N . & Gustafsson, C. M . et al. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol. Genet. Genomic Med. (e-pub ahead of print 23 October 2014; doi:10.1002/mgg3.115).
Zhang, X ., Ling, J ., Barcia, G ., Jing, L ., Wu, J . & Barry, B. J . et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am. J. Hum. Genet. 94, 547–558 (2014).
Saitsu, H ., Nishimura, T ., Muramatsu, K ., Kodera, H ., Kumada, S . & Sugai, K . et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 45, 445–449 449e441 (2013).
Taft, R. J ., Vanderver, A ., Leventer, R. J ., Damiani, S. A ., Simons, C . & Grimmond, S. M . et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am. J. Hum. Genet. 92, 774–780 (2013).
Scheper, G. C ., van der Klok, T ., van Andel, R. J ., van Berkel, C. G ., Sissler, M . & Smet, J . et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet. 39, 534–539 (2007).
Steenweg, M. E ., Ghezzi, D ., Haack, T ., Abbink, T. E ., Martinelli, D . & van Berkel, C. G . et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 135, 1387–1394 (2012).
Bayat, V ., Thiffault, I ., Jaiswal, M ., Tetreault, M ., Donti, T . & Sasarman, F . et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol. 10, e1001288 (2012).
Elo, J. M ., Yadavalli, S. S ., Euro, L ., Isohanni, P ., Gotz, A . & Carroll, C. J . et al. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum. Mol. Genet 21, 4521–4529 (2012).