Table 1.
Clinical Characteristics of the Family Members
| Patient | Phenotype | USH2A genotype | GJB2 genotype |
|---|---|---|---|
| I-1 | Normal hearing | 239–242insGTAC/+ | 400T>C/+ |
| I-2 | Normal hearing | 239–242insGTAC/+ | 400T>C/+ |
| II-1 | Profound SNHL | 400T>C/400T>C | |
| II-2 | Moderate SNHL | 239–242insGTAC/239–242insGTAC | 400T>C/+ |
| II-3 | Normal hearing | 3368A>G/+ | |
| III-1 | Moderate SNHL; normal ERG at age 3 | 239–242insGTAC/3368A>G | 400T>C/+ |
| III-2 | Normal ABR at age 1 | 239–242insGTAC/+ |
SNHL, sensorineural hearing loss; ERG, electroretinogram; ABR, auditory brainstem response.