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

ABSTRACT: 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.

SUBMITTER: Rivera H

PROVIDER: S-EPMC3847196 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

Rivera Henry H Martín-Hernández Elena E Delmiro Aitor A García-Silva María Teresa MT Quijada-Fraile Pilar P Muley Rafael R Arenas Joaquín J Martín Miguel A MA Martínez-Azorín Francisco F

BMC nephrology 20130913

<h4>Background</h4>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.<h4>Case presentation</h4>Here we report the clinical and genetic findings in a girl and her brother. Both patients were clinically diagnosed with the HUPRA syndrome. Analys ...[more]

PMID: 24034276

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