Group | AAD | AADf | AADmm | hEDS | cEDS | BJH | DysA | NotEDS EDS | DD |
Patients with preliminary diagnoses (% of those evaluated for EDS or DD) | 1656 (100) | 1337 (81) | 319 (19) | 1138 (69) | 329 (20) | 82 (5.0) | 79 (4.8) | 28 (1.7) | 728 (100) |
Patients with preliminary diagnoses having WES (% of those evaluated) | 727 (45) | 613 (47) | 114 (37)# | 503 (45) | 160 (50) | 31 (39) | 29 (37) | 4 (14)# | 102 (14)# |
DNA variants as reported by GeneDxa | |||||||||
Patients having a variant (% of those having WES) | 440 (61) | 370 (60) | 70 (61) | 298 (59) | 96 (60) | 20 (65) | 22 (76) | 4 (100)# | 79 (78)# |
Total number of variants (% of total variants) | 636 (100) | 539 (86) | 97 (16) | 425 (68) | 149 (24) | 28 (4.5) | 30 (4.8) | 4 (0.64) | 131 (100) |
Patients with only a MT-DNA variant (% of those having WES) | 75 (11) | 63 (10) | 12 (11) | 46 (9.1) | 18 (11) | 4 (13) | 6 (21) | 1 (25) | 2 (2.0)# |
Number of MT-DNA variants (% of total variants) | 111 (17) | 94 (18) | 17 (17) | 71 (17) | 27 (18) | 5 (18) | 7 (23) | 1 (25) | 2 (1.5) |
Patients with nuclear DNA ± MT-DNA variant (% of those having WES) | 365 (50) | 307 (50) | 58 (51) | 252 (50) | 78 (49) | 16 (52) | 16 (55) | 3 (75) | 77 (75)# |
Number of nuclear DNA variants (% of total variants) | 525 (83) | 445 (82) | 80 (83) | 354 (83) | 122 (82) | 23 (82) | 23 (77) | 3 (75) | 129 (100) |
Patients with CTD-related likely pathogenic/pathogenic variant (“) | 16 (4.4) | 12 (2.0)# | 4 (3.5) | 9 (1.8)# | 1 (0.63)# | 2 (6.4) | 3 (10) | 1 (25)# | 1 (0.98) |
DNA variants as qualified by the authorb in Figure 2 | |||||||||
Patients with variant of likely relevance to AADb (% if those having WES) | 148 (20) | 123 (20) | 25 (22) | 100 (20) | 33 (21) | 8 (26) | 6 (21) | 1 (25) | 5 (4.9)# |
Number of variants likely relevant to AADb (% of total variants) | 169 (27) | 138 (26) | 31 (32) | 116 (27) | 36 (24) | 9 (32) | 7 (23) | 1 (25) | 5 (3.8) |
Patients with variants previously related to CTDc (% if those having WES) | 75 (10) | 60 (9.8) | 15 (13) | 50 (9.9) | 17 (11) | 5 (16) | 2 (6.9) | 1 (25) | 1 (0.98)# |
Patients with variants newly related to AADd (% if those having WES) | 73 (10) | 63 (10) | 10 (8.7) | 50 (9.9) | 16 (10) | 3 (10) | 4 (14) | 0 | 4 (3.9)# |
Patients with variants possibly relevant to AADb (% if those having WES) | 227 (32) | 194 (32) | 33 (29) | 154 (31) | 49 (31) | 8 (26) | 13 (45) | 3 (75) | 1 (0.98)# |
Number of variants possibly relevant to AADb (% of total variants) | 390 (61) | 344 (64) | 46 (47) | 262 (62) | 95 (64) | 11 (39) | 19 (66) | 3 (75) | 1 (0.77) |
Patients with only VNODU or V*DUO variantse (% of those having WES) | 65 (8.9) | 53 (8.6) | 12 (11) | 44 (8.7) | 14 (8.8) | 4 (13) | 3 (10) | 0 | 73 (72)# |
Number of VNODU or V*DUO variantse (% of total variants) | 77 (12) | 57 (11) | 20 (21) | 47 (7.4) | 18 (12) | 8 (29) | 4 (1.3) | 0 | 123 (95) |
Maternally inherited variants of likely or possible relevance to AAD (“) | 167 (32)@ | 147 (34) | 29 (36) | 110 (32) | 47 (41)# | 10 (43) | 8 (31) | 0 | 25 (19)# |
Paternally inherited variants of likely or possible relevance to AAD (“) | 111 (21)@ | 94 (21) | 17 (21) | 82 (23) | 18 (16) | 7 (30) | 4 (15) | 0 | 28 (22) |