Table 2.
Clinical features of previously reported pedigrees with the m.7511T > C mutation
| Ethnicity | Penetrance | Severity | Age of onset (years) | Audiometric configuration | Progression | Homoplasmy/heteroplasmy | Reference |
|---|---|---|---|---|---|---|---|
| African-American | 36/43 (84%) | Unknown | Various | Unknown | Yes | Homo, hetero | [15] |
| French | 7/19 (37%) | Normal to profound | 3 to 33 | Unknown | Yes/Noa | Homo, hetero | [14] |
| French | 6/19 (32%) | Normal to profound | Various | Sloping, U-shaped | No | Homo, hetero | [14] |
| Japanese | 13/24 (54%) | Normal to profound | 3 to 30 | Sloping, dip, flat | Yes/Noa | High hetero | [16] |
| Japanese | 7/23 (30%) | Normal to profound | 26 to 45 | Sloping | Yes | Homo | [18] |
| Japanese | 9/17 (53%) | Normal to moderate | 0 to 40s | Sloping, flat, low-frequency | Yes/Noa | Homo | This study |
Homo, homoplasmy; hetero, heteroplasmy
aProgression was not always observed