title: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.
authors.affiliation: 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. fmartinez@h12o.es.
authors.forename: Henry
authors.initials: H
authors.lastname: Rivera
authors.forename: Elena
authors.initials: E
authors.lastname: Martín-Hernández
authors.forename: Aitor
authors.initials: A
authors.lastname: Delmiro
authors.forename: María Teresa
authors.initials: MT
authors.lastname: García-Silva
authors.forename: Pilar
authors.initials: P
authors.lastname: Quijada-Fraile
authors.forename: Rafael
authors.initials: R
authors.lastname: Muley
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.forename: Francisco
authors.initials: F
authors.lastname: Martínez-Azorín
mesh_terms: D000472:Alkalosis, Respiratory / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D033461:Hyperuricemia / Q000235:genetics*; D007223:Infant; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051437:Renal Insufficiency / Q000235:genetics*; D012714:Serine-tRNA Ligase / Q000235:genetics*; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D024101:Mitochondrial Proteins; D012714:Serine-tRNA Ligase
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