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

作者：Rivera Henry; Martin Hernandez Elena; Delmiro Aitor; Teresa Garcia Silva Maria; Quijada Fraile Pilar; Muley Rafael; Arenas Joaquin; Martin Miguel A; Martinez Azorin Francisco^*

来源：BMC Nephrology, 2013, 14(1): 195.

DOI：10.1186/1471-2369-14-195

• Mitochondrial DNA
• Mitochondrial disease
• HUPRA syndrome
• SARS2
• Mitochondrial respiratory chain

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.

• 出版日期2013-9-13