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Table 1 Clinical and genetic data of all affected family members

From: First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Pat. ID Sex Age (years) PTPRQ genotype Age of HL onset (years) Age at PTA testing (years) PTA results—hearing thresholds (dB)
cDNA level Protein level Tested ear 0.125 kHz 0.25 kHz 0.5 kHz 1 kHz 2 kHz 4 kHz 8 kHz
III.2 F 56 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 8 54 R N/A 25 25 20 45 50 70
L N/A 25 25 20 35 65 90
IV.2 F 36 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 7 35 R 15 20 30 65 75 90 70
L 15 20 30 60 65 80 60
IV.3 F 29 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 28 28 R N/A 20 15 15 40 40 60
L N/A 15 10 20 40 35 40
IV.4 F 32 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 8 28 R 20 20 30 40 50 50 50
L 30 20 20 20 30 40 30
IV.6 M 28 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 27 27 R N/A 10 5 10 20 25 20
L N/A 5 10 10 5 20 25
IV.7 M 21 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 10 16 R 30 30 25 20 35 35 35
L 30 30 25 25 35 35 45
V.1 M 14 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 10 12 R 15 10 15 10 30 45 35
L 15 10 15 15 45 45 55
V.5 M 9 c.[6881G>A];[=] p.[(Trp2294*)];[(=)] 4 7 R 20 15 15 25 55 60 50
L 15 15 10 20 35 50 45
  1. Genotypes description using NM_001145026.2 and NP_001138498.1 reference sequences
  2. HL hearing loss, PTA pure tone audiometry, R right, L left, dB decibels, kHz kilohertz, F female, M male, N/A not available, = normal allele