Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Lisa G Riley, Minal J Menezes, Joelle Rudinger-Thirion, Rachael Duff, Pascale de Lonlay, Agnes Rotig, Michel C Tchan, Mark Davis, Sandra T Cooper, John Christodoulou
ORPHANET JOURNAL OF RARE DISEASES | BMC | Published : 2013
BACKGROUND: Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial respiratory chain (RC) disorder, Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). In this study, a cohort of patients with a mitochondrial RC disorder for who anaemia was a feature, were screened for mutations in YARS2. METHODS: Twelve patients were screened for YARS2 mutations by Sanger sequencing. Clinical data were compared. Functional assays were performed to confirm the pathogenicity of the novel mutations and to investigate tissue specific effects. RESULTS: PathogenicYARS2 mutations were identified in three of twelve pa..View full abstract
Awarded by National Health and Medical Research Council of Australia
We thank Liz Barnes for advice on statistical analyses. This research was supported by a March of Dimes Research Grant, and National Health and Medical Research Council of Australia Project Grant 1026891. M.M. is an Australian Mitochondrial Diseases Foundation (AMDF) Postgraduate Research Scholar, and the AMDF also provided financial support to RD and MD. We are grateful to the Crane and Perkins families for their generous financial support.