A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
1 Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i + 12), 6º Planta, Bloque E, Avda. Córdoba s/n, Madrid E-28041, Spain
2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid E- 28041, Spain
3 Unidad Pediátrica de Enfermedades Raras, Hospital 12 de Octubre, Madrid E-28041, Spain
4 Unidad Pediátrica de Nefrología, Hospital 12 de Octubre, Madrid E-28041, Spain
BMC Nephrology 2013, 14:195 doi:10.1186/1471-2369-14-195Published: 13 September 2013
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.
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.
Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.