Table 2.
Mitochondrial diseases identified by mitochondrial DNA (mtDNA) whole genome sequencing. Pathogenic mtDNA mutations were identified by Sanger sequencing in blood in 18 patients from 8 kindreds. The m.12264C>T mutation in the nineteenth patient from the ninth kindred was not detectable by Sanger sequencing of the mtDNA genome in blood, but rather was detected initially in the proband’s muscle by Sanger sequencing as homoplasmic and confirmed subsequently by ARMS quantitative polymerase chain reaction to be present in 30 % mutant heteroplasmy load in the proband’s blood [34]. Bold indicates mutations that would be detected on the classical “common mtDNA mutation panel”, whereas others are only detectable by whole mtDNA genome sequencing
| mtDNA gene | mtDNA mutation | mtDNA mutation level | # Affected patients | Reference |
|---|---|---|---|---|
| tRNALEU | 3243A>G | Heteroplasmy | 3 | |
| tRNALEU | 3288A>G | Heteroplasmy | 6 | [33] |
| tRNALYS | 8344A>G | Heteroplasmy | 1 | |
| tRNASER(AGY) | 12264C>T | Heteroplasmy | 1 | [34] |
| tRNATRP | 5537_5538insT | Heteroplasmy | 2 | [35] |
| ND4 | 11778G>A / 14484T>C | Heteroplasmy/homoplasmy | 3 | [36] |
| ND6 | ||||
| ND4 | 11778G>A | Homoplasmy | 1 | |
| ND5 | 13513G>A | Heteroplasmy | 2 |