Table 1 Summary of clinical data on deafness in five Chinese pedigrees carrying a heteroplasmic A1555G mutation
Subject | Gender | Age | Audiometric configuration | Use of aminoglycosides | Age at onset (y) | PTA (dB) right ear | PTA (dB) left ear | Level of hearing impairment | Heteroplasmy rate (%) |
|---|---|---|---|---|---|---|---|---|---|
KM001-II-2 | F | 50 | Slope | Yes | 1 | 76 | 70 | Severe | 93.47 |
KM001-II-4 | F | 45 | Slope | Yes | Not known | 40 | 51 | Mild | 91.02 |
KM001-II-6 | F | 43 | Slope | Yes | Not known | 41 | 41 | Moderate | 92.01 |
KM001-II-8 | F | 41 | Slope | Not known | Not known | 76 | 63 | Moderate | 93.25 |
KM001-II-10 | F | 39 | Slope | Not known | Not known | 40 | 39 | Mild | 95.05 |
KM001-II-13 | M | 36 | Slope | Yes | Not known | 54 | 60 | Moderate | 95.01 |
KM001-III-1 | F | 29 | Slope | Yes | 1.5 | 74 | 74 | Severe | 94.16 |
KM001-III-3 | F | 23 | Slope | Yes | 2 | 93 | 95 | Profound | 93.60 |
KM001-III-4 | M | 24 | Slope | Yes | 1 | 95 | 93 | Profound | 93.13 |
KM001-III-5 | F | 22 | Slope | Yes | Not known | 43 | 54 | Moderate | 91.50 |
KM001-III-7 | F | 22 | Slope | Yes | 12 | 50 | 70 | Moderate | 93.54 |
KM003-III-4 | F | 18 | Slope | Yes | Not known | 103 | 100 | Profound | 96.08 |
KM008-III-8 | F | 19 | Slope | Yes | 2 | 104 | 109 | Profound | 66.76 |
KM009-II-5 | F | 44 | Slope | Yes | Not known | 98 | 76 | Severe | 94.24 |
KM009-III-3 | M | 20 | Slope | Yes | Not known | 98 | 95 | Profound | 94.92 |
KM011-III-7 | M | 35 | Slope | Yes | 6 | 83 | 80 | Severe | 86.23 |
KM011-III-8 | M | 30 | Flat | Not known | 20 | 59 | 68 | Moderate | 87.20 |
KM011-III-9 | M | 52 | Slope | Yes | 3 | 100 | 100 | Profound | 83.58 |
KM011-III-11 | F | 45 | Slope | Yes | Not known | 51 | 55 | Moderate | 89.29 |
KM011-III-15 | F | 40 | Flat | Yes | 3 | 110 | 110 | Profound | 82.32 |
KM011-III-17 | F | 37 | Slope | Yes | 4 | 69 | 73 | Moderate | 85.19 |
KM011-IV-1 | F | 26 | Slope | Not known | Not known | 46 | 49 | Moderate | 85.87 |
KM011-IV-2 | M | 24 | Slope | Not known | Not known | 51 | 48 | Moderate | 91.14 |
KM011-IV-4 | F | 20 | Slope | Yes | 2 | 109 | 103 | Profound | 87.48 |
KM011-IV-5 | F | 20 | Slope | Yes | Not known | 93 | 93 | Profound | 94.65 |
KM011-IV-10 | F | 20 | Flat | Yes | 2 | 94 | 93 | Profound | 93.80 |