ABCMdb

PMID: 9242200

Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Eur J Endocrinol. 1997 Jul;137(1):40-7., [PubMed]

Sentences

No. Mutations Sentence Comment

118 ABCD1 p.Arg617Cys ABCD1 p.Arg617Cys ABCD1 p.Arg617Cys ABCD1 p.Ser606Leu ABCD1 p.Ser606Leu ABCD1 p.Arg418Trp ABCD1 p.Arg418Trp ABCD1 p.Arg418Trp ABCD1 p.Arg418Trp ABCD1 p.Leu107Pro ABCD1 p.Leu107Pro Start of Cortisol Start of Age at endocrine Basal increase neurological examination symptoms ACTH cortisol after i.v. ACTH symptoms ALD gene Patient (year-month) (year-month) (pmol/l) (nmol/l) (nmol/l) (year-month) mutation 1a 9-05 6-08 223 179 0 7-02 cALD 2252-10 G-A 1b 13-03 9-05 41 331 41 9-05 cALD 2252-10 G-A 2a 26-01 - 6 386 221 - R418W 2b 27-10 - 6 461 229 11-00 cALD R418W 3a 11-06 6-00 536 138 8 - S606L 3b 11-06 6-00 423 143 11 10-10 cALD S606L 4a 4-04 2-09 >330 127 141 - R617C 4b 5-06 3-11 >330 97 50 - R617C 4c 7-10 5-05 >330 50 6 6-03 cALD R617C 5a 10-06 - 8 433 290 8-02 cALD del 1257-9 5b 17-07 - 9 637 629 - del 1257-9 6a 27-00 24-00 >320 30 11 18-03 AMN L107P 6b 32-10 - 47 279 185 19-01 AMN L107P 7a 34-08 - 48 469 350 24-00 AMN R418W 7b 36-05 - 43 486 201 28-00 AMN R418W 8a 14-05 - 33 287 94 - 1801 del AG 8b 16-10 - 14 348 149 - 1801 del AG 9a 13-07 5-10 1094 36 6 - 740 del G 9b 157-04 1241 63 11 - 740 del G cALD, cerebral adrenoleucodystrophy; AMN, adrenomyeloneuropathy; -, no symptoms. Login to comment 120 ABCD1 p.Gly512Ser ABCD1 p.Pro543Leu ABCD1 p.Arg554His ABCD1 p.Arg617His ABCD1 p.Arg389His ABCD1 p.Ala141Thr ABCD1 p.Tyr281His ABCD1 p.Tyr559His Sixteen of these mutations have been published before (11, 21); the remaining 12 mutations comprise nine missense mutations (A141T, Y281H, R389H, G512S, P543L, R554H, Y559H, R617H, R679R), two frame-shift mutations (del 740, del 2132) and one splice site mutation (ins 8 bp 2252). Login to comment