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

BMC Nephrology

Francisco Martínez-Azorín³  Miguel A Martín³  Joaquín Arenas³  Rafael Muley¹  Pilar Quijada-Fraile²  María Teresa García-Silva²  Aitor Delmiro³  Elena Martín-Hernández²  Henry Rivera³ 

[1] Unidad Pediátrica de Nefrología, Hospital 12 de Octubre, Madrid E-28041, Spain;Unidad Pediátrica de Enfermedades Raras, Hospital 12 de Octubre, Madrid E-28041, Spain;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid E- 28041, Spain

关键词: Mitochondrial respiratory chain;    SARS2;    HUPRA syndrome;    Mitochondrial disease;    Mitochondrial DNA;   

Others  :  1082844
DOI  :  10.1186/1471-2369-14-195

 received in 2013-05-07, accepted in 2013-09-04,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Rivera et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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