A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome

The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6.

► Novel mDNA m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome ► The NARP syndrome is confined to a defined dysfunction of p.MT-ATP6. ► Allele specific assays for NARP needs to include m.8989G>C mutation.