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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
  1. M: male; F: female; N: normal; A: affected; PTA: pure-tone audiometry; Imp: impedance (tympanometry); type ‘A’ or type ‘As’; BERA: brain stem emission response audiogram