Subjects | I-2 | II-1 | II-5 | III-2 | II-4 |
---|---|---|---|---|---|
Gender | female | male | female | male | male |
Age when tested | 50 | 26 | 30 | 1 | 39 |
Age at onset | 46 | 18 | 25 | 1 | – |
Use of aminoglycoside | yes | no | yes | no | no |
PTA (dB) right ear | 90 | 90 | 100 | 85 | 25 |
PTA (dB) left ear | 92 | 85 | 100 | 75 | 25 |
Level of hearing loss | profound | profound | severe | severe | normal |
Gene | Position | Replacement | Conservation Conservation of amino acid for polypeptides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X). | Previously Reported See the online mitochondrial genome database ( |
---|---|---|---|---|
73 | A>G | – | yes | |
152 | T>C | – | yes | |
263 | A>G | – | yes | |
16223 | C>T | – | yes | |
16519 | T>C | – | yes | |
827 | A>G | – | yes | |
1438 | A>G | – | yes | |
1494 | C>T | C/C/C/C | yes | |
2706 | A>G | A/G/A/A | yes | |
3010 | G>A | G/G/A/A | yes | |
3497 | C>T (Ala→Val) | – | yes | |
3970 | C>T | – | yes | |
4883 | C>T | – | yes | |
7444 | G>A (Term→Lys) | – | yes | |
8860 | A>G (Thr→Ala) | – | yes | |
10398 | A>G (Thr→Ala) | – | yes | |
10400 | C>T | – | yes | |
11719 | G>A | – | yes | |
12705 | C>T | – | yes | |
15301 | G>A | – | yes | |
15426 | A>G (Thr→Ala) | T/M/I/I | yes |