Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
García Silva, María Teresa
creator
Unidad de Enfermedades Metabólicas y Mitocondriales
Servicio de Pediatría-Neonatología
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Molecular genetics and metabolism
2013
eng
110(1-2):73-7.
3-Methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of syndromes characterized by an increased excretion of 3-methylglutaconic and 3-methylglutaric acids. Five types of 3-MGA-uria (I to V) with different clinical presentations have been described. Causative mutations in TAZ OPA3, DNAJC19, ATP12, ATP5E, and TMEM70 have been identified. After excluding the known genetic causes of 3-MGA-uria we used exome sequencing to investigate a patient with Leigh syndrome and 3-MGA-uria. We identified a homozygous variant in SERAC1 (c.202C>T; p.Arg68*), that generates a premature stop codon at position 68 of SERAC1 protein. Western blot analysis in patient's fibroblasts showed a complete absence of SERAC1 that was consistent with the prediction of a truncated protein and supports the pathogenic role of the mutation. During the course of this project a parallel study identified mutations in SERAC1 as the genetic cause of the disease in 15 patients with MEGDEL syndrome, which was compatible with the clinical and biochemical phenotypes of the patient described here. In addition, our patient developed microcephaly and optic atrophy, two features not previously reported in MEGDEL syndrome. We highlight the usefulness of exome sequencing to reveal the genetic bases of human rare diseases even if only one affected individual is available.
Formato Vancouver:
Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7.
PMID: 23707711
Contiene 23 referencias
http://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/2/pc2883.pdf
http://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/2/pc2883.pdf
130622
20181121112256.0