Novel (ovario) leukodystrophy related to AARS2 mutations.

ABSTRACT:

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.

Methods

Independent next-generation exome-sequencing studies were performed in 2 unrelated patients with a leukoencephalopathy. MRI findings in these patients were compared with available MRIs in a database of unclassified leukoencephalopathies; 11 patients with similar MRI abnormalities were selected. Clinical and MRI findings were investigated.

Results

Next-generation sequencing revealed compound heterozygous mutations in AARS2 encoding mitochondrial alanyl-tRNA synthetase in both patients

SUBMITTER: Dallabona C 

PROVIDER: S-EPMC4118500 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature