Table 3. Characteristics of patients with the del(GJB2-D13S175) mutation.
| Patient | Pathological genotype | Ethnicity (birth place) | Procedure and age at first hearing testing | Severity of hearing loss | Age at cochlear implantation | Outcome |
|---|---|---|---|---|---|---|
| A | del(GJB2-D13S175)/c.35delG | Ingush (Ingushetia) | CPA, 4 y | Moderate | Hearing aids were used | Good |
| B | del(GJB2-D13S175)/c.−23+1G>A | Ingush (Ingushetia) | OAE at birth, ABR, 12 m | Profound | 31 months | Good |
| C | del(GJB2-D13S175)/c.35delG | Ingush (Ingushetia) | OAE at birth, ABR, 7 m | Profound | 12 months | Good |
| D | del(GJB2-D13S175)/c.290dupA | Ingush (Ingushetia) | OAE at birth, ABR, 14 m | Profound | 21 months | Good |
| E | del(GJB2-D13S175)/del(GJB2-D13S175) | Ingush (Ingushetia) | OAE at birth, ABR, 16 m | Profound | 27 months | Good |
| F | del(GJB2-D13S175)/del(GJB2-D13S175) | Ingush (Ingushetia) | OAE at birth, ABR, 16 m | Profound | 36 months | Good |
| G | del(GJB2-D13S175)/c.35delG | Ingush/Russian (Moscow) | OAE at birth, ABR, 5 m | Profound | 11 months | Good |
| H | del(GJB2-D13S175)/del(GJB2-D13S175) | Ingush (Chechnya) | OAE at birth | Unknown | Unknown | Unknown |
Abbreviations: ABR, auditory brainstem response audiometry; CPA, conditioned play audiometry; OAE, evoked otoacoustic emissions. By ‘good outcome’, we mean improvements in auditory skills as well as in the development of speech production.