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Online mutation report
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
  1. M Bugiani1,
  2. V Tiranti2,
  3. L Farina3,
  4. G Uziel1,
  5. M Zeviani2
  1. 1Department of Child Neurology, Istituto Nazionale Neurologico “C. Besta”, Milan, Italy
  2. 2Department of Molecular Neurogenetics, Istituto Nazionale Neurologico “C. Besta”, Milan, Italy
  3. 3Department of Neuroradiology, Istituto Nazionale Neurologico “C. Besta”, Milan, Italy
  1. Correspondence to:
 Massimo Zeviani
 Department of Molecular Neurogenetics, Istituto Nazionale Neurologico “C. Besta”, via Libero Temolo, 4 20126 Milano, Italy; zevianiistituto-besta.it

Abstract

Background: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX.

Methods: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A.

Results: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts.

Conclusions: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.

  • 2D-BNE, two dimensional Blue Native electrophoresis
  • COX, cytochrome c oxidase
  • mtDNA, mitochondrial DNA
  • COX assembly
  • COX15
  • cytochrome c oxidase
  • heme A
  • Leigh syndrome

https://doi.org/10.1136/jmg.2004.029926

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    Footnotes

    • This work was supported by Fondazione Telethon-Italy (grant no. GGP030039), Fondazione Pierfranco e Luisa Mariani, Ricerca Finalizzata Ministero della Salute FR-2002/158, Fondazione Cariplo, and a EUMITOCOMBAT network grant from the European Union Framework Program 6.

    • Competing interests: none declared