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GENATLAS PHENOTYPE
last update : 13/12/2008
Symbol NDUFS8
Location 11q13
Name Leigh syndrome, subacute necrotizing encephalopathy
Corresponding gene NDUFS8
related resource MITOP database
Other symbol(s) LS
Main clinical features
  • complex I deficiency
  • characterized by lactate acidosis, bilaterally symmetrical necrotic lesions in the brain stem, basal ganglia, thalamus and spinal cord, occuring predominantly in infants, with a systemic deficit in complex I
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name NADH ubiquinone oxidoreductase (Q reductase) Fe-S protein 8
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R18C lead to marked changes in the physicochemical properties of the mitochondrial-targeting peptide, but not changes in the assembly or activity of complex I or in the transcription of NDUFS8 in the fibroblasts
    Remark(s)