Table 1 Clinical Findings, Genotype, X-Chromosome Inactivation (XCI), ABCD1 Allele-Specific Expression (ASE) and Biochemical Findings (VLCFA plasma levels) of X-ALD carriers
Nr of family, consultants | Age (yrs) | Presence of symptoms (age at onset, yrs) | Mutations | XCI pattern | ABCD1 ASE (mut:wt) | C26 (nv) | C26/C22 (nv) | C24/C22 (nv) | |
|---|---|---|---|---|---|---|---|---|---|
F1 II-3 | 67 | Yes (45) | 410G > A | W137X | 97:03 | 84:16 | 1,09 (<0,75) | 48 (<17) | 1644 (<1100) |
F1 III-2 | 34 | No | 410G > A | W137X | 91:09 | nd | 0,58 (<0,75) | 47 (<17) | 1482 (<1100) |
F2 I-2 | 61 | Yes (59) | 427C > G | P143A | 71:29 | 93:07 | 0,85 (<0,75) | 18 (<17) | 1222 (<1100) |
F2 II-1 | 38 | No | 427C > G | P143A | 85:15 | 83:17 | nd | nd | nd |
F2 II-2 | 35 | No | 427C > G | P143A | 76:24 | 77:23 | nd | nd | nd |
F3 II-2 | 73 | Yes (45) | 428C > A | P143H | 60:40 | 38:62 | 1,45 (<1,50) | 28 (<40) | 700 (<820) |
F3 III.1 | 46 | No | 428C > A | P143H | 84:16 | 84:16 | 1,53 (<1,50) | 40 (<40) | 860 (<820) |
F3 III-2 | 50 | No | 428C > A | P143H | 83:17 | 75:25 | 1,75 (<1,50) | 37 (<40) | 733 (<820) |
F4 II-3 | 75 | Yes (50) | 652C > T; 664G > T | P218S; V222L | 81:19 | 82:18 | 1,57 (<0,75) | 19 (<17) | 1680 (<1100) |
F4 III-1 | 44 | No | 652C > T; 664G > T | P218S; V222L | 83:17 | 81:19 | 2,38 (<1,50) | 53 (<40) | 1424 (<820) |
F4 III-3 | 45 | Yes (29) | 652C > T; 664G > T | P218S; V222L | 89:11 | 82:18 | 1,00 (<0,75) | 36 (<17) | 1611 (<1100) |
F5 II-1 | 55 | Yes (54) | 1202G > A | R401Q | 98:02 | 82:18 | 1,96 (<1,50) | 38 (<40) | 1031 (<820) |
F6 II-1 | 76 | Yes (58) | 1727T > C | L576P | 73:27 | 76:24 | 2,10 (<0,75) | 21 (<17) | 1039 (<1100) |
F7 I-2 | 72 | No | 1772G > A | R591Q | n/a | n/a | 1,23 (<1,5) | 16 (<40) | 798 (<820) |
F7 II-1 | 44 | Yes (34) | 1772G > A | R591Q | 96:04 | 97:03 | 2,7 (<1,50) | 56 (<40) | 957 (<820) |
F8 II-1 | 62 | Yes (40) | 1992G > A | W664X | 83:17 | 82:18 | 3,08 (<1,50) | 56 (<40) | 1132 (<820) |
F9 II-1 | 63 | No | 293C > T | S98L | 83:17 | 93:07 | 1,82 (<1,50) | 37 (<40) | 888 (<820) |
F9 II-3 | 57 | No | 293C > T | S98L | 79:21 | 75:25 | 1,99 (<1,50) | 42 (<40) | 913 (<820) |
F9 III-2 | 20 | No | 293C > T | S98L | 75:25 | 61:39 | 2,65 (<1,50) | 46 (<40) | 1149 (<820) |
F10 I-2 | 63 | No | 443A > G | N148S | 86:14 | 42:58 | 2,16 (<1,50) | 42 (<40) | 788 (<820) |
F10 II-2 | 40 | No | 443A > G | N148S | 96:04 | 84:16 | 2,17 (<1,50) | 43 (<40) | 757 (<820) |
F11 III-1 | 67 | No | 1165C > T | R389C | 52:48 | 72:28 | 0,7 (<1,50) | 13 (<40) | 572 (<820) |
F11 III-3 | 64 | No | 1165C > T | R389C | 78:22 | 34:66 | 1,1 (<1,50) | 16 (<40) | 823 (<820) |
F11 III-5 | 49 | No | 1165C > T | R389C | 98:02 | 20:80 | 1,05 (<1,50) | 16 (<40) | 848 (<820) |
F11 III-6 | 46 | No | 1165C > T | R389C | 71:29 | 74:26 | 1,30 (<1,50) | 18 (<40) | 1000 (<820) |
F11 V-1 | 26 | No | 1165C > T | R389C | 57:43 | 58:42 | 0,68 (<1,50) | 14 (<40) | 663 (<820) |
F12 I-2 | 53 | No | 1211C > A | S404X | 95:05 | 09:91 | nd | nd | nd |
F13 I-2 | 60 | No | del. ex8-10 | n/a | 76:24 | nd | nd | nd | nd |
F13 II-2 | 37 | No | del. ex8-10 | n/a | 93:07 | nd | 1,99 (<1,50) | 37 (<40) | 1040 (<820) |
F13 II-3 | 30 | No | del. ex8-10 | n/a | 99:01 | nd | nd | nd | nd |
F14 I-2 | 52 | No | del. ex7-10 | n/a | 69:31 | nd | 1,91 (<1,50) | 34 (<40) | 606 (<820) |