A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

BMC Nephrol. 2013 Sep 13:14:195. doi: 10.1186/1471-2369-14-195.


Background: HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This syndrome was previously described in three patients with a homozygous mutation c.1169A > G (p.D390G) in SARS2, encoding the mitochondrial seryl-tRNA synthetase.

Case presentation: Here we report the clinical and genetic findings in a girl and her brother. Both patients were clinically diagnosed with the HUPRA syndrome. Analysis of the pedigree identified a new homozygous mutation c.1205G > A (p.R402H) in SARS2 gene. This mutation is very rare in the population and it is located at the C-terminal globular domain of the homodimeric enzyme very close to p.D390G.

Conclusion: Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alkalosis, Respiratory / genetics*
  • Female
  • Genetic Markers / genetics
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Hyperuricemia / genetics*
  • Infant
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Renal Insufficiency / genetics*
  • Serine-tRNA Ligase / genetics*
  • Syndrome


  • Genetic Markers
  • Mitochondrial Proteins
  • Serine-tRNA Ligase