Table 2.
GJB2, GJB6 and mitochondrial hotspot mutations previously screened in the 88 unrelated individuals diagnosed with nonsyndromic prelingual SNHL
| Sample ID | Previous molecular analysis | ||
|---|---|---|---|
| GJB2 | GJB6 | MT-RNR1 | |
| Coding regions | del(GJB6-D13S1830) del(GJB6-D13S1854) |
m.1555A>G m.961delT |
|
| 2264 | c.35delG/wt | ND | ND |
| 2282 | c.35delG/p.Arg184Trp | ND | ND |
| 2301 | c.35delG/wt | ND | ND |
| 2671 | c.35delG/c.35delG | ND | ND |
| 2768 | c.35delG/c.35delG | ND | ND |
| 2778 | c.35delG/c.35delG | ND | ND |
| 2853 | c.35delG/wt | D13S1854/wt | ND |
| 2906 | c.35delG/wt | ND | ND |
| 2966 | ND | D13S1830/wt | ND |
| 2967 | ND | D13S1830/wt | ND |
| 3048 | c.35delG/c.35delG | ND | ND |
| 3052 | c.35delG/wt | D13S1854 | ND |
| 3067 | p.Val27Ile/wt | ND | ND |
| 3131 | c.35delG/wt | D13S1854 | ND |
| 3301 | c.35delG/c.35delG | ND | ND |
| 3324 | p.Arg127Cys/wt | ND | ND |
“/wt” means the presence of a wild type allele, i.e. when mutations were found in heterozygosis
ND no mutation detected