Table 1.
Characteristics of 681 participants from 175 families with mutation classification
| Characteristic | N with Data | n (%) with Trait |
|---|---|---|
| Hypertension | 369 | 201 (54.47) |
| Proteinuria | 377 | 322 (85.41) |
| Gross hematuria | 345 | 168 (48.70) |
| Hematuria diagnosed by a physician | 405 | 367 (90.62) |
| ESRD | 609 | 364 (59.77) |
| Transplant | 610 | 255 (41.80) |
| Ocular change | 360 | |
| none | 251 (69.72) | |
| cataract | 42 (11.67) | |
| any combination | 66 (18.33) | |
| macular hole | 1 (0.28) | |
| Hearing loss | 401 | 268 (66.83) |
| Positive by audiometry | 356 | 317 (89.04) |
| Mutation type in patients | 681 | |
| large deletion | 31 (4.55) | |
| missense | 438 (64.32) | |
| small deletion | 64 (9.40) | |
| splice site | 78 (11.45) | |
| truncating | 70 (10.28) | |
| Gly-X-Y | 104 (15.27) | |
| Mutation type distribution in families | 175 families | |
| large deletion | 14 (8.00) | |
| missense | 89 (50.86) | |
| small deletion | 23 (13.14) | |
| splice site | 24 (13.71) | |
| truncating | 25 (14.29) | |
| Gly-X-Y | 50 (28.57) |