Table 5 Phenotype of GJB2 c.109G > A homozygous mutation
From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
No. | Audiology findings | Diagnosed age | Reference |
|---|---|---|---|
1 | Mild to moderate hearing loss | ||
2 | Mild sensorineural hearing loss | 6 years | [33] |
3 | Mild to moderae hearing loss | [34] | |
4 | Slight/mild sensorineural hearing loss | [35] | |
5 | Bilateral high-frequency sensorineural hearing loss (40–60 dB) | 4 years | [36] |
6 | Bilateral sensorineural hearing loss (85–90 dB),progressive: 55–60 dB at 2 years, 60–65 dB at 3 years,60–80 dB at 4 years | 2 years | [36] |
7 | Bilateral sensorineural hearing loss (40–50 dB) | 27 months | [36] |
8 | Mild to moderate high-frequency sensorineural hearing loss | [37] | |
9 | Bilateral mild-moderate sensorineural hearing loss | 8 years | [38] |
10 | Bilateral mild-moderate sensorineural hearing loss | 3 years | [38] |
11 | Bilateral mild sensorineural hearing loss | 13 years | [38] |
12 | Bilateral mild sensorineural hearing loss | 3.5 years | [38] |
13 | Bilateral mild sensorineural hearing loss | born | [38] |
14 | Bilateral mild-moderate left ear and mild right ear | [38] | |
15 | Bilateral mild | 5 years | [38] |
16 | Bilateral mild high frequency | born | [38] |
17 | Moderate hearing impairment progressed to severe | 2 years | [38] |
18 | Bilateral moderate hearing loss in high frequencies | 4 years | [38] |
19 | Bilateral mild to moderate hearing loss | 2 years | [38] |
20 | Bilateral moderate hearing loss | 12 years | [38] |
21 | Bilateral mild hearing impairment | [38] | |
22 | Bilateral moderately severe | [38] | |
23 | Bilateral mild to moderately severe hearing loss | [38] |