ABCMdb

PMID: 22280810

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCD1 p.Arg401Gln ABCD1 p.Ser98Leu ABCD1 p.Ser98Leu ABCD1 p.Ser98Leu ABCD1 p.Asn148Ser ABCD1 p.Asn148Ser ABCD1 p.Trp137* ABCD1 p.Trp137* ABCD1 p.Arg591Gln ABCD1 p.Arg591Gln ABCD1 p.Leu576Pro ABCD1 p.Arg389Cys ABCD1 p.Arg389Cys ABCD1 p.Arg389Cys ABCD1 p.Arg389Cys ABCD1 p.Arg389Cys ABCD1 p.Pro143His ABCD1 p.Pro143His ABCD1 p.Pro143His ABCD1 p.Pro218Ser ABCD1 p.Pro218Ser ABCD1 p.Pro218Ser ABCD1 p.Pro143Ala ABCD1 p.Pro143Ala ABCD1 p.Pro143Ala ABCD1 p.Ser404* ABCD1 p.Val222Leu ABCD1 p.Val222Leu ABCD1 p.Val222Leu ABCD1 p.Trp664* All samples were tested in 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 duplicate and one male DNA sample was included in each experiment as a control for enzymatic digestion. Login to comment