A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-04

AUTHORS

Junya Nakajima, Tuba F Eminoglu, Goksel Vatansever, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Hisashi Kawashima, Naomichi Matsumoto, Noriko Miyake

ABSTRACT

Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia. Using whole-exome sequencing of the proband and his parents, we identified a novel YARS2 mutation (c.1303A>G, p.Ser435Gly) that was homozygous in the patient and heterozygous in his parents. This mutation is located at the ribosomal protein S4-like domain of the gene, while other reported YARS2 mutations are all within the catalytic domain. Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase. More... »

PAGES

229

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2013.143

DOI

http://dx.doi.org/10.1038/jhg.2013.143

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031154955

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24430573


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