From: Investigating diagnostic sequencing techniques for CADASIL diagnosis
Sequencing technique | Sample number tested | Gender and age of testing, ± SD | Mutations identified | Number. of Cys-sparing mutations | Number of pathogenic (HGMD/ClinVar) | Number of unreported mutations |
---|---|---|---|---|---|---|
Sanger | M = 139 | M = 49.77 ± 13.55 | M = 16 (11.5%) | M = 1 (6.3%) | M = 16 (100%) | M = 0 (0%) |
F = 268 | F = 50.91 ± 14.12 | F = 28 (10.4%) | F = 2 (7.1%) | F = 27 (96.4%) | F = 1 (3.6%) | |
M + F = 407 | M + F = 50.52 ± 13.94 | M + F = 44 (10.6%) | M + F = 3 (6.8%) | M + F = 43 (97.7%) | M + F = 1 (2.3%) | |
GRC NGS 5-gene custom panel | M = 133 | M = 51.60 ± 13.90 | M = 25 (18.8%) | M = 9 (36.0%) | M = 15 (60.0%) | M = 14 (56%) |
F = 221 | F = 51.01 ± 14.70 | F = 31 (14.0%) | F = 12 (38.7%) | F = 23 (74.2%) | F = 8 (25.8%) | |
M + F = 354 | M + F = 51.39 ± 14.41 | M + F = 56 (15.8%) | M + F = 21 (37.5%) | M + F = 38 (67.9%) | M + F = 18 (32.1%) | |
Total* | M = 244 | M = 51.04 ± 13.84 | M = 41 (16.8%) | M = 10 (24.4%) | M = 31 (75.6%) | M = 14 (56%) |
F = 436 | F = 51.98 ± 14.29 | F = 59 (13.5%) | F = 14 (23.7%) | F = 50 (84.7%) | F = 8 (25.8%) | |
M + F = 680 | M + F = 51.64 ± 14.14 | M + F = 100 (14.7%) | M + F = 24 (24%) | M + F = 81 (81.0%) | M + F = 19 (19.0%) |