Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

@article{Simons2015LossoffunctionAS,
  title={Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.},
  author={C. Simons and L. Griffin and G. Helman and G. Golas and A. Pizzino and M. Bloom and Jennifer Murphy and J. Crawford and S. H. Evans and S. Topper and M. Whitehead and J. Schreiber and K. Chapman and C. Tifft and Katrina B Lu and H. Gamper and Megumi Shigematsu and R. Taft and A. Antonellis and Ya-Ming Hou and A. Vanderver},
  journal={American journal of human genetics},
  year={2015},
  volume={96 4},
  pages={
          675-81
        }
}
Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination on MRI. Analysis by whole exome sequencing identified… Expand
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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
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