Table 2.
Pathogenic mutations identified in our cohort
| Position | genotype | gene | transcript | coding | protein | diagnosis |
|---|---|---|---|---|---|---|
| chr2:26700593 | A/A | OTOF | NM_194248 | c.2239G > T | p. Glu747Ter | Severe to profound |
| chr1:35250910 | G/A | GJB3 | NM_001005752 | c.547G > A | p. Glu183Lys | Severe to profound |
| chr11:76890902 | A/A | MYO7A | NM_000260 | c.2489G > A | p. Arg830His | Severe to profound |
| chr11:76867138 | A/A | MYO7A | NM_000260 | c.470 + 1G > A | IVS5 + 1G > A | Severe to profound |
| chr9:75309494 | T/T | TMC1 | NM_138691 | c.100C > T | p. Arg34Ter | Severe to profound |