SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

Neurology. 2003 Oct 14;61(7):991-3. doi: 10.1212/01.wnl.0000082391.98672.0a.

Abstract

Leigh syndrome (LS) is one of the most frequent forms of mitochondrial disease in infancy and childhood. Mutations in SURF1 have been shown to be an important cause of LS with cytochrome c oxidase (COX) deficiency. The authors have identified four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of LS with COX deficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Brain / pathology
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Cytochrome-c Oxidase Deficiency / complications
  • Cytochrome-c Oxidase Deficiency / genetics*
  • DNA Mutational Analysis
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Leigh Disease / complications
  • Leigh Disease / enzymology*
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins
  • Mitochondrial Proteins
  • Mutation
  • Proteins / analysis
  • Proteins / genetics*
  • Transfection

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • Proteins
  • Surf-1 protein