Table 1 Clinical features of family members carrying the m.7511T > C mutation
From: Mitochondrial mutations in maternally inherited hearing loss
Individual | Sex | Age of onset (years) | Age at time of test (years) | Severity (R/L) | Audiometric configuration (R/L) | Progression | Speech discrimination (R/L) | DPOAE |
|---|---|---|---|---|---|---|---|---|
III-3 | F | 13 | 42 | Moderate/Moderate | Gently sloping/Flat | Yes | 95%/85% | Bilateral NR |
III-5 | F | 35 | 41 | Moderate/Moderate | Gently sloping/Gently sloping | Yes | 90%/95% | Bilateral NR |
III-7 | F | – | 39 | Normal/Normal | NA | No | Not tested | R: NR except 1 kHz, L: NR except 1 kHz and 3 kHz |
IV-2 | F | 7 | 7 | Mild/Mild | Flat/Flat | No | 100%/100% | NR at 4 kHz |
IV-3 | F | 5 | 9 | Moderate/Moderate | Steeply sloping/Gently sloping | Yes | 95%/90% | Bilateral NR |
IV-4 | M | – | 22 | Normal/Normal | NA | No | Not tested | Bilateral NR |
IV-6 | F | 0 | 8 | Mild/Moderate | Low frequency/Low frequency | No | Not tested | Not tested |