Mitochondrial Complex I Deficiency (NDUFS6-Related) (NDUFS6)

Mitochondrial complex I deficiency (NDUFS6-related) is a very rare autosomal recessive disorder caused by pathogenic variants in the gene NDUFS6. While this disease has been reported in patients of different ethnicities, a founder effect has been identified in the Sephardic Jewish population of the Caucasus region. Loss of function of the protein encoded by NDUFS6 results in impaired ability of the mitochondria to produce energy for the cell. The disease presents in the first few days of life with lethargy and poor feeding, and death follows within hours or days. No genotype-phenotype correlation has been observed.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Mitochondrial Complex I Deficiency (NDUFS6-Related) NDUFS62-4 [4] (c.186+2T>A, p.C115Y, p.Q118*)ARWorldwide< 1 in 50080%0.000400641025641026
Mitochondrial Complex I Deficiency (NDUFS6-Related) NDUFS62-4 [4] (c.186+2T>A, p.C115Y, p.Q118*)ARCaucasus Jewish1 in 24>95%0.00216919739696312