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 | |||||||