Table 7.
Comparison between results obtained from the sample included in the present report with the global results for our total series.
| PRESENT REPORT SAMPLE | TOTAL SERIES# | |||||||
|---|---|---|---|---|---|---|---|---|
| 0 MUT | 1 MUT | 2 MUT | 1 + 2 MUT* | 0 MUT | 1 MUT | 2 MUT | 1 + 2 MUT* | |
| USH2 | 43.1% (25/58) | 22.4% (13/58) | 34.5% (20/58) | 56.9% (33/58) | 23.9% (32/134) | 16.4% (22/134) | 59.7% (80/134) | 76.1% (102/134) |
| USHA | 54.5% (6/11) | 18.2% (2/11) | 27.3% (3/11) | 45.5% (5/11) | 33.3% (8/24) | 25% (6/24) | 41.6% (10/24) | 66.7% (16/24) |
| USHNC | 73.7% (14/19) | 15.8% (3/19) | 10.5% (2/19) | 26.3% (5/19) | 64% (16/25) | 12% (3/25) | 24% (6/25) | 36% (9/25) |
| TOTAL | 51.1% (45/88) | 20.5% (18/88) | 28.4% (25/88) | 48.9% (43/88) | 30.6% (56/183) | 16.9% (31/183) | 52.5% (96/183) | 69.4% (127/183) |
We consider as a mutation (MUT) only those clearly pathogenic. If we also consider UV3, the total figures in the present report sample are 51.1% (45/88); 17% (15/88); 31.9% (28/88) and 48.9% (43/88) for 0 MUT, 1 MUT, 2 MUT and 1 + 2 MUT respectively.
* Percentage of patients with at least one mutation in USH2A: patients with only one mutation + patients with 2 mutations (1MUT + 2MUT).
# TOTAL SERIES represents the global results obtained from this, together with previous studies [19,9,23,32, unpublished data and present work]