Table 1 Clinical evaluations of assessed subjects/patients
From: A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred
Ped. ID | Sex | Age (years) | Status | Clinical test | PTA (dB) | Imp: type | Severity | Diagnosis | |
|---|---|---|---|---|---|---|---|---|---|
R. ear | L. ear | ||||||||
IV-16 | M | 29 | N | PTA and Imp | ≤ 30 | A | A | Normal | Normal |
IV-2 | M | 28 | A | PTA and Imp | ≥ 100 | A | A | Profound | ARNSHL |
IV-4 | M | 27 | A | PTA and Imp | ≥ 90 | A | A | Profound | ARNSHL |
IV-5 | F | 12 | A | PTA and Imp | ≥ 100 | As | A | Profound | ARNSHL |
IV-9 | M | 26 | A | PTA and Imp | ≥ 100 | As | A | Profound | ARNSHL |
V-2 | F | 5 | A | PTA and Imp | ≥ 105 | A | A | Profound | ARNSHL |
V-10 | M | 1 | A | BERA | Nil | Nil | Nil | Profound | ARNSHL |
V-11 | F | 9 | A | PTA and Imp | ≥ 100 | A | A | Profound | ARNSHL |