TABLE 1.
Clinically Significant Pathogenic Mitochondrial DNA Variants Detected in the 11,424 Exomes Analyzed
| Subject | mtDNA variant | Gene | No. ref reads | No. alt reads | Het (%) | Reported associated disease 9 |
|---|---|---|---|---|---|---|
| 1 | m.3697G>A | MT‐ND1 | 7 | 89 | 92 | MELAS/LS/LDYT |
| 2 | m.8851T>C | MT‐ATP6 | 1 | 61 | 98 | BSN/LS |
| 3 | m.8993T>C | MT‐ATP6 | 0 | 65 | 98 | NARP/LS/MILS/other |
| 4 | m.9185T>C | MT‐ATP6 | 1 | 76 | 97 | LS/Ataxia syndromes/NARP‐like disease |
| 5 | m.9185T>C | MT‐ATP6 | 7 | 96 | 92 | LS/Ataxia syndromes/NARP‐like disease |
| 6 | m.10158T>C | MT‐ND3 | 19 | 6 | 25 | LS/MELAS |
| 7 | m.13094T>C | MT‐ND5 | 87 | 55 | 39 | Ataxia and PEO/MELAS, LS, myoclonus, fatigue |
| 8 | m.13513G>A | MT‐ND5 | 47 | 54 | 53 | LS/MELAS/LHON‐MELAS overlap syndrome |
| 9 | m.13513G>A | MT‐ND5 | 19 | 3 | 14 | LS/MELAS/LHON‐MELAS overlap syndrome |
| 10 | m.14459G>A | MT‐ND6 | 1 | 83 | 96 | LDYT/LS |
| 11 | m.14459G>A | MT‐ND6 | 2 | 78 | 97 | LDYT/LS |
BSN = bilateral striatal necrosis; Het = heteroplasmy; LDYT = Leber hereditary optic neuropathy and dystonia; LHON = Leber hereditary optic neuropathy; LS = Leigh syndrome; MELAS = mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes; MILS = maternally inherited Leigh syndrome; mtDNA = mitochondrial DNA; NARP = neurogenic muscle weakness, ataxia, and retinitis pigmentosa; PEO = progressive external ophthalmoplegia.