Pediatric Neurology
Volume 42, Issue 3 , Pages 227-230 , March 2010

A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

  • Kairit Joost, MD

      Affiliations

    • Tallinn Children's Hospital, Tallinn, Estonia
    • Department of Biochemistry, University of Tartu Center of Excellence for Translational Medicine, Tartu, Estonia
    • ,
  • Richard Rodenburg, PhD

      Affiliations

    • Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • Andres Piirsoo, PhD

      Affiliations

    • Department of General and Molecular Pathology, University of Tartu, Tartu, Estonia
    • ,
  • Bert van den Heuvel, PhD

      Affiliations

    • Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • Riina Zordania, MD, PhD

      Affiliations

    • Tallinn Children's Hospital, Tallinn, Estonia
    • ,
  • Katrin Õunap, MD, PhD

      Affiliations

    • Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
    • Department of Pediatrics, University of Tartu, Tartu, Estonia
    • Corresponding Author InformationCommunications should be addressed to: Dr. Õunap; Department of Genetics; United Laboratories; Tartu University Hospital; 2 Puusepa Street; Tartu 51014; Estonia.

Received 4 June 2009 ,Accepted 12 October 2009.

References 

  1. Robinson BH. Human cytochrome oxidase deficiency. Pediatr Res. 2000;48:581–585
  2. Bohm M, Pronicka E, Karczmarewicz E, et al. Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr Res. 2006;59:21–26
  3. Leary SC, Mattman A, Wai T, et al. A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Mol Genet Metab. 2006;89:129–133
  4. Jaksch M, Horvath R, Horn N, et al. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology. 2001;57:1440–1446
  5. 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;9:795–801
  6. 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;96:130–132
  7. Sacconi S, Salviati L, Sue CM, et al. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr Res. 2003;53:224–230
  8. 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;59:862–865
  9. 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:310–314
  10. Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999;23:333–337
  11. 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;93:1312–1317
  12. Verdijk RM, de Krijger R, Schoonderwoerd K, et al. Phenotypic consequences of a novel SCO2 gene mutation. Am J Med Genet A. 2008;146A:2822–2827
  13. 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;61:950–952
  14. Jaksch M, Paret C, Stucka R, et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet. 2001;10:3025–3035
  15. Lenaz G, Fato R, Genova ML, Bergamini C, Bianchi C, Biondi A. Mitochondrial complex I: structural and functional aspects. Biochim Biophys Acta. 2006;1757:1406–1420

PII: S0887-8994(09)00485-8

doi: 10.1016/j.pediatrneurol.2009.10.004

Pediatric Neurology
Volume 42, Issue 3 , Pages 227-230 , March 2010

Article Tools

* Image Usage & Resolution