Identification of Usher mutations in patients from Europe and the USA
| Country | USH1 patients | USH2 patients | USH3 patients | USHA patients | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | 0 all | 1 all | 2 alls | Total | 0 all | 1 all | 2 alls | Total | 0 all | 1 all | 2 alls | Total | 0 all | 1 all | 2 alls | ||
| The number of cases with two alleles represent those cases for which two sequence variants were detected in the same gene. all, alleles. | |||||||||||||||||
| Belgium, Germany, | 51 | 27 | 12 | 12 | 35 | 25 | 5 | 5 | 3 | 3 | 0 | 0 | 5 | 4 | 1 | 0 | |
| and Netherlands | |||||||||||||||||
| Switzerland | 5 | 5 | 0 | 0 | 2 | 2 | 0 | 0 | |||||||||
| Italy, Spain | 13 | 5 | 8 | 0 | 3 | 2 | 0 | 1 | 1 | 0 | 1 | 0 | 8 | 5 | 2 | 1 | |
| Denmark | 10 | 2 | 3 | 5 | |||||||||||||
| UK | 29 | 16 | 12 | 1 | 4 | 3 | 0 | 1 | 1 | 0 | 0 | 1 | |||||
| Total Europe | 103 | 50 | 35 | 18 | 47 | 35 | 5 | 7 | 7 | 5 | 1 | 1 | 13 | 9 | 3 | 1 | |
| Patients with mutation | 53/103 = 51% | 12/47 = 25% | 2/7 = 29% | 4/13 = 31% | |||||||||||||
| Mutant alleles | 71/206 = 34% | 19/94 = 20% | 3/14 = 21% | 5/26 = 19% | |||||||||||||
| USA | 37 | 26 | 5 | 6 | 38 | 29 | 7 | 2 | 14 | 9 | 3 | 1 | 7 | 5 | 1 | 1 | |
| Patients with mutation | 11/37 = 30% | 9/38 = 24% | 4/14 = 29% | 2/7 = 29% | |||||||||||||
| Mutant alleles | 17/74 = 23% | 11/76 = 14% | 5/28 = 18% | 3/14 = 21% | |||||||||||||
| Total | 140 | 76 | 40 | 24 | 85 | 64 | 12 | 9 | 21 | 14 | 4 | 2 | 20 | 14 | 4 | 2 | |
| Patients with mutation | 64/140 = 46% | 21/85 = 25% | 6/21 = 29% | 6/20 = 30% | |||||||||||||
| Mutant alleles | 88/280 = 31% | 30/170 = 18% | 8/42 = 19% | 8/40 = 20% | |||||||||||||
| USA pre-screened | 104 | 80 | 17 | 7 | |||||||||||||
| Patients with mutation | 24/104 = 23% | ||||||||||||||||
| Mutant alleles | 31/208 = 15% | ||||||||||||||||