NDUFA6-related pathology is associated with autosomal recessive inheritance. Diagnostic screening of NDUFA6 is available as part of the NHS Genomic Medicine Service; additionally, the HSS service for Rare Mitochondrial Disorders screen NDUFA6 as part of a targeted complex I panel. Alston CL, et al. describe pathogenic NDUFA6 variants in four unrelated individuals including clear loss of function mutations; 3 frameshift mutations, 1 nonsense mutation and 1 that abolishes the methionine initiation codon. 1 missense mutation was also reported. Analysis of available patient cells showed a defect in complex I assembly that was rescued by expression of wildtype NDUFA6 cDNA.
NDUFA6