TABLE 2.
Characterization of the audiometric data for the three family members including the patient and her parents
| Family | Pedigree | Gender | Age at test (years) | Age of onset | Use of aminoglycoside | PTA, dB HL | Type of HL | Other symptoms | |
|---|---|---|---|---|---|---|---|---|---|
| Right ear | Left ear | ||||||||
| Family 1 | III.1 | Female | 7 | Congenital | No | >94.75 a | >100 | Profound | Moderate Intellectual Disability |
| II.1 | Female | 28 | NA | No | Normal b | Normal | NA | Not Observed | |
| II.2 | Male | 32 | NA | No | Normal | Normal | NA | Not Observed | |
| Family 2 | III.1 | Female | 28 | NA | No | Normal | Normal | NA | Not Observed |
| III.2 | Male | 36 | NA | No | Normal | Normal | NA | Not Observed | |
| IV.1 | Male | 9 | Congenital | No | >100 | >100 | Profound | The patient is asymptomatic | |
a
For this proband, 4‐PTA (4‐frequency pure tone average (0.5, 1, 2, and 4 kHz)) was used.
b
Normal: <25 dB.
Abbreviation: NA, not appropriate.