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Table 7 Comparison between results obtained from the sample included in the present report with the global results for our total series.

From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

 

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)

  1. 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.
  2. * Percentage of patients with at least one mutation in USH2A: patients with only one mutation + patients with 2 mutations (1MUT + 2MUT).
  3. # TOTAL SERIES represents the global results obtained from this, together with previous studies [19,9,23,32, unpublished data and present work]
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172