Table 3 Summary of clinical and molecular data for 44 Han Chinese subjects carrying the putative 12S rRNA mutations.
12S rRNA mutation | GJB2 gene mutation | Subjects | Gender | Audiometic configuration | Age-at-onset (years) | PTAa(dB) right ear | PTA (dB) left ear | Use of drugs | Level of hearing impairment |
|---|---|---|---|---|---|---|---|---|---|
1555A > G | polymorphism | FE003-IV-1 | M | Slope | 1 | 98 | 98 | Yes | Profound |
1555A > G | polymorphism | FE007-IV-6 | M | Slope | 2 | 100 | 100 | Yes | Profound |
1555A > G | polymorphism | FE008-III-7 | F | Slope | 10 | 58 | 78 | No | Severe |
1555A > G | polymorphism | FE0128-IV-1 | F | Slope | 2 | 102 | 98 | Yes | Profound |
1555A > G | polymorphism | FE019-IV-1 | F | Slope | 2 | 67 | 82 | Yes | Severe |
1555A > G | polymorphism | FE020-III-15 | M | Slope | 8 | 81 | 74 | Yes | Severe |
1555A > G | polymorphism | FE036-III-1 | M | Slope | 10 | 58 | 49 | No | Moderate |
1555A > G | polymorphism | FE081-III-1 | M | Slope | 16 | 50 | 56 | Yes | Moderate |
1555A > G | polymorphism | FE122-III-2 | F | Slope | 2 | 71 | 53 | Yes | Moderate |
1555A > G | polymorphism | FE141-III-1 | F | Slope | 2 | 24 | 30 | No | Mild |
1555A > G | polymorphism | FE154-III-1 | F | Slope | 18 | 61 | 60 | No | Moderate |
1555A > G | polymorphism | FE160-III-1 | F | Slope | 5 | 61 | 74 | No | Severe |
1555A > G | polymorphism | FE163-III-3 | M | Flat | 2 | 110 | 99 | Yes | Profound |
1555A > G | polymorphism | FE300-II-12 | F | Slope | 3 | 110 | 105 | Yes | Profound |
1555A > G | polymorphism | FE304-II-2 | F | Slope | 3 | 100 | 80 | Yes | Profound |
1555A > G | polymorphism | FE317-III-10 | M | Slope | 4 | 94 | 93 | Yes | Profound |
1555A > G | polymorphism | FE350-III-1 | F | Flat | 1 | 100 | 100 | Yes | Profound |
1555A > G | polymorphism | NB038-III-1 | M | Flat | 1 | 90 | 87 | Yes | Profound |
1555A > G | polymorphism | NB048-III-2 | F | Slope | 1 | 78 | 81 | No | Severe |
1555A > G | polymorphism | NB052-III-2 | F | Flat | 1 | 120 | 102 | No | Profound |
1555A > G | polymorphism | NB076-III-1 | M | Flat | 1 | 118 | 118 | Yes | Profound |
1555A > G | polymorphism | NB078-III-2 | F | Flat | 6 | 110 | 117 | Yes | Profound |
1555A > G | polymorphism | NB079-III-1 | M | Flat | 1 | 102 | 102 | Yes | Profound |
1555A > G | polymorphism | NB094-III-2 | F | Flat | 1 | 117 | 117 | Yes | Profound |
1555A > G | polymorphism | NB111-III-2 | F | Slope | 3 | 83 | 86 | Yes | Severe |
1555A > G | polymorphism | NB126-III-2 | F | Slope | 2 | 84 | 92 | No | Profound |
1555A > G | polymorphism | NB137-III-1 | F | Slope | 2 | 111 | 115 | No | Profound |
1555A > G | polymorphism | ZX019-II-2 | F | Slope | 5 | 59 | 62 | Yes | Moderate |
1555A > G | polymorphism | ZX022-III-3 | M | Flat | 2 | 101 | 102 | Yes | Profound |
1555A > G | polymorphism | ZX025-III-14 | M | Flat | 1 | 113 | 108 | Yes | Profound |
1555A > G | polymorphism | ZX028-IV-1 | F | Slope | 3 | 87 | 87 | No | Severe |
1555A > G | polymorphism | ZX037-II-7 | M | Flat | 5 | 30 | 27 | No | Mild |
1555A > G | polymorphism | ZX047-III-1 | M | Slope | 6 | 78 | 79 | No | Severe |
1494C > T | polymorphism | FE247-III-1 | M | Flat | 3 | 100 | 100 | Yes | Profound |
1494C > T | polymorphism | NB133-II-1 | M | Slope | 2 | 86 | 88 | Yes | Severe |
1095T > C | polymorphism | FE312 | F | Slope | 9 | 82 | 80 | Yes | Severe |
1095T > C | polymorphism | NB021 | M | Slope | 10 | 36 | 37 | No | Mild |
1095T > C | polymorphism | NB067 | M | Flat | 1 | 93 | 93 | No | Profound |
1095T > C | polymorphism | NB100 | F | Flat | 5 | 100 | 95 | Yes | Profound |
747A > G | polymorphism | NS016-III-4 | M | Flat | 1 | 100 | 80 | Yes | Profound |
839A > G | polymorphism | NB005-III-1 | F | Flat | 1 | 78 | 81 | Yes | Severe |
1027A > G | polymorphism | FE239-II-1 | M | Slope | 18 | 82 | 85 | No | Severe |
1310C > T | polymorphism | NS071-IV-1 | M | Flat | 1 | 91 | 92 | No | Profound |
1413T > C | 235DelC/299DelAT | ZX039-IV-1 | F | Flat | 1 | 114 | 111 | No | Profound |