A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
BMC Nephrol
; 14: 195, 2013 Sep 13.
Article
em En
| MEDLINE
| ID: mdl-24034276
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Serina-tRNA Ligase
/
Polimorfismo de Nucleotídeo Único
/
Proteínas Mitocondriais
/
Hiperuricemia
/
Alcalose Respiratória
/
Insuficiência Renal
/
Hipertensão Pulmonar
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article