TABLE 1.
Overview of the clinical characteristics and genotypes in the eight families
| Family | Family research no. | Patient | Age of onset | Phenotype | Mutation | Protein change (predicted) | Protein domain |
|---|---|---|---|---|---|---|---|
| A | W06-357 | 5 | 5 years | High-frequency hearing impairment with normal thresholds of the low frequencies until at least 12 years of age | c.413C>G; c.595G>A | p.Ala138Glu; p.Val199Met | SRCR; SRCR |
| B | W06-418 | 3 | Prelingual (2 years) | Down-sloping audiogram configuration with impairment of the low frequencies at a very young age | c.207delC; c.916G>A | p.Thr70fs; p.Ala306Thr | Truncation after TM; serine protease |
| C | W06-445 | 4 | Prelingual (2 years) | Down-sloping audiogram configuration with impairment of the low frequencies at a very young age | c.595G>A; c.916G>A | p.Val199Met; p.Ala306Thr | SRCR; serine protease |
| D | W02-068 | 4 | 7 years | Down-sloping audiogram configuration with deterioration of the low frequencies after 11 years of age | c.413C>A; c.916G>A | p.Ala138Glu; p.Ala306Thr | SRCR; serine protease |
| 6 | 16 years | High-frequency hearing impairment with normal thresholds of the low frequencies until at least 19 years of age | |||||
| 9 | 18 years | ||||||
| E | W07-0050 | 8 | 17 years | Mainly high-frequency hearing impairment with deterioration of the low frequencies after approximately 30 years of age | c.207delC; c.1276G>A | p.Thr70fs; p.Ala426Thr | Truncation after TM; serine protease |
| 9 | 12 years | ||||||
| 10 | 7 years | ||||||
| 13 | 17 years | ||||||
| F | W03-357 | 3 | 10 years | High-frequency hearing impairment with mild decline of the low frequencies at the age of 22 years | c.413C>A; c.916G>A | p.Ala138Glu; p.Ala306Thr | SRCT; serine protease |
| G | W08-1756 | 3 | 15 years | Flat audiogram configuration with thresholds of about 110 dB at 49 years of age | c.413C>A; c.595G>A | p.Ala138Glu; p.Val199Met | SRCR; SRCR |
| 4 | 33 years | Down-sloping audiogram configuration with impairment of the low frequencies starting after 44 years | |||||
| 7 | 21 years | ||||||
| H | W10-1160 | 3 | 5 years | Down-sloping audiogram configuration with deterioration of the low frequencies at 23 years of age | c.413C>A; c.323-6G>Aa | p.Ala138Glu; p.Cys107fs | SRCR; SRCR |
| 5 | 4 years | High-frequency hearing impairment with normal threshold of the low frequencies until at least 16 years of age |