Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a brazilian patient: Case report and literature review

JAMA Neurology

Volumn 70, Issue 2, 2013, Pages 258-261

  Gurgel Giannetti, Juliana ^a   Oliveira, Guilherme ^b   Filho, Geraldo Brasileiro ^a   Martins, Poliana ^c   Vainzof, Mariz ^c   Hirano, Michio ^d  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d Department of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CREATINE KINASE; CYTOCHROME C OXIDASE; GLUTAMIC ACID; GUANINE; LACTIC ACID; LYSINE; NUCLEOTIDE;

ADULT; BASE PAIRING; BLOOD ANALYSIS; BRAZIL; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DEATH; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; FEMALE; GENE DELETION; GENETIC ANALYSIS; HEART FAILURE; HETEROZYGOSITY; HISTOCHEMISTRY; HUMAN; LACTIC ACIDOSIS; MITOCHONDRIAL CARDIOENCEPHALOMYOPATHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PUTAMEN; RESPIRATORY FAILURE; REVIEW; SCO2 GENE; SENSORIMOTOR NEUROPATHY; SEQUENCE ANALYSIS; SIGNAL NOISE RATIO; STRIDOR; WEAKNESS;

EID: 84874099565     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.595     Document Type: Review

References (17)

1. Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencepha-lomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999;23(3):333-337.
2. Verdijk RM, de Krijger R, Schoonderwoerd K, et al. Phenotypic consequences of a novel SCO2 gene mutation. Am J Med Genet A. 2008;146A(21):2822-2827.
3. Jaksch M, Ogilvie I, Yao J, et al. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet. 2000;9(5):795-801.
4. Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol. 2000; 47(5):589-595.
5. Salviati L, Sacconi S, Rasalan MM, et al. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol. 2002; 59(5):862-865.
6. Sacconi S, Salviati L, Sue CM, et al. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr Res. 2003;53(2):224-230.
7. Foltopoulou PF, Zachariadis GA, Politou AS, Tsiftsoglou AS, Papadopoulou LC. Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity. Mol Genet Metab. 2004;81(3):225-236.
8. Tarnopolsky MA, Bourgeois JM, Fu MH, et al. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Am J Med Genet A. 2004;125A(3):310-314.
9. Tay SK, Shanske S, Kaplan P, DiMauro S. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch Neurol. 2004; 61(6):950-952.
10. Vesela K, Hansikova H, Tesarova M, et al. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr. 2004;93(10):1312-1317.
11. Leary SC, Mattman A, Wai T, et al. A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Mol Genet Metab. 2006;89(1-2): 129-133.
12. Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. Acta Paediatr. 2007;96(1):130-132.
13. Mobley BC, Enns GM, Wong LJ, Vogel H. A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. Clin Neuropathol. 2009; 28(2):143-149.
14. Pronicki M, Kowalski P, Piekutowska-Abramczuk D, et al. A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur J Paediatr Neurol. 2010;14(3):253-260.
15. Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K. A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr Neurol. 2010;42(3):227-230.
16. Böhm M, Pronicka E, Karczmarewicz E, et al. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res. 2006;59 (1):21-26.
17. Honzik T, Tesarova M, Magner M, et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 2012;35(5):749-759.