Table 1. Mitochondrial DNA variants identified in patients with Leber hereditary optic neuropathy.
| Mitochondrial gene | Nucleotide change | |
|---|---|---|
| Common variants (∼ 90%) | MTND1 | m.3460G>Aa |
| MTND4 | m.11778G>Aa | |
| MTND6 | m.14484T>Ca | |
| Rare variants (∼ 10%) | MTND1 | m.3376G>A, m.3635G>Aa, m.3697G>A, m.3700G>Aa, m.3733G>Aa, m.4025C>T, m.4160T>C, m.4171C>Aa |
| MTND2 | m.4640C>A, m.5244G>A | |
| MTND3 | m.10237T>C | |
| MTND4 | m.11696G>A, m.11253T>C | |
| MTND4L | m.10663T>Ca | |
| MTND5 | m.12811T>C, m.12848C>T, m.13637A>G, m.13730G>A | |
| MTND6 | m.14325T>C, m.14568C>T, m.14459G>Aa, m.14729G>A, m.14482C>Aa, m.14482C>Ga, m.14495A>Ga, m.14498C>T, m.14568C>Ta, m.14596A>T | |
| MTATP6 | m.9101T>C | |
| MTCO3 | m.9804G>A | |
| MTCYB | m.14831G>A |
a
These mtDNA variants are definitely pathogenic.
They have been identified in ≥2 independent LHON pedigrees and show segregation with affected disease status.
The remaining putative LHON mutations have been found in singleton cases or in a single family, and additional evidence is required before pathogenicity can be irrefutably ascribed.1