A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

Clin Neuropathol. 2009 Mar-Apr;28(2):143-9. doi: 10.5414/npp28143.

Abstract

Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.

Publication types

  • Case Reports

MeSH terms

  • Alkyl and Aryl Transferases / genetics
  • Base Sequence
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Carrier Proteins / genetics*
  • Consanguinity
  • Electron Transport
  • Electron Transport Complex IV
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Mitochondrial Proteins / genetics*
  • Molecular Chaperones
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology
  • Mutation*
  • Pedigree
  • Sequence Homology, Nucleic Acid

Substances

  • Carrier Proteins
  • Membrane Proteins
  • Mitochondrial Proteins
  • Molecular Chaperones
  • SCO1 protein, human
  • SCO2 protein, human
  • Surf-1 protein
  • COX10 protein, human
  • Electron Transport Complex IV
  • Alkyl and Aryl Transferases