Skip to main content

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]