Sanger sequencing revealed AARS2 mutations in 4 of the 11 selected patients. Functional studies in yeast confirmed the pathogenicity of the mutations in one patient. Results: Next-generation sequencing revealed compound heterozygous mutations in AARS2 encoding mitochondrial alanyl-tRNA synthetase in both patients. Clinical and MRI findings were investigated. MRI findings in these patients were compared with available MRIs in a database of unclassified leukoencephalopathies 11 patients with similar MRI abnormalities were selected. Methods: Independent next-generation exome-sequencing studies were performed in 2 unrelated patients with a leukoencephalopathy. Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype. Ferrero, Ileana Lamperti, Costanza Zeviani, Massimo Vanderver, Adeline Meitinger, Thomas Prokisch, Holger Chapman, Kim Colley, Alison Rocha, Helena Åunap, Katrin Schiffmann, Raphael Salsano, Ettore Savoiardo, Mario Hamilton, Eline M.
Baruffini, Enrico Melchionda, Laura Mariotti, Caterina Strom, Tim M. Novel (ovario) leukodystrophy related to AARS2 mutationsĭallabona, Cristina Diodato, Daria Kevelam, Sietske H.
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