Table 1 Phenotypes and genotypes of the Chinese DFNA family
Member | Gender | Age (years) | Genotype | Phenotype | |||
|---|---|---|---|---|---|---|---|
Exon8 (c.544_545insA) | Protein (p.F221X) | Age of Onset (years) | PTA (Left) (dB) | PTA (Right) (dB) | |||
II-6 | F | 74 | + | + | 20 | profound | 77.5 |
III-1 | M | 68 | + | + | 40 | 83.75 | 80 |
III-3 | M | 61 | + | + | 35 | 73.75 | 77.5 |
III-5 | M | 56 | + | + | 35 | 65 | 71.25 |
III-8 | F | 52 | — | — | -- | N | N |
III-11 | F | 50 | + | + | 30 | 56.25 | 57.5 |
III-13 | M | 47 | + | + | 30 | 52.5 | 52.5 |
III-15 | F | 34 | — | — | -- | N | N |
IV-1 | M | 36 | + | + | 32 | 36.25 | 28.75 |
IV-3 | M | 31 | — | — | -- | N | N |
IV-5 | F | 39 | — | — | -- | N | N |
IV-6 | M | 30 | — | — | -- | N | N |
IV-7 | M | 25 | — | — | -- | N | N |
IV-9 | F | 26 | — | — | -- | N | N |
IV-10 | M | 22 | + | + | 22 | 40 | 32.5 |