A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.

@article{Ardissone2015ANH,
  title={A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.},
  author={Anna Ardissone and Eleonora Lamantea and Jade Quartararo and Cristina Dallabona and Franco Carrara and Isabella Moroni and Claudia Donnini and Barbara Garavaglia and Massimo Zeviani and Graziella Uziel},
  journal={JIMD reports},
  year={2015},
  volume={20},
  pages={95-101}
}
YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2 (MLASA2). We report here on two siblings with a novel mutation and a review of literature. The older patient presented at 2 months with marked anemia and lactic acidemia. He required periodic blood transfusions until 14 months of age. Cognitive and motor… CONTINUE READING