ABCMdb

ABCD1 p.Trp595*

None has been submitted yet.

Publications

PMID: 19963315 [PubMed] Matsumoto H et al: "Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy."

No. Sentence Comment

35 Case Age ABCD1 mutation Disease duration (years) Main symptom(s) Brain MRI Loes score Spinal MRI 1 32 Missense (H667N) 1 Spastic gait, pigmentation Normal 0 Normal 2 44 Nonsense (W595X) 1 Spastic gait, sensory disturbance (leg) Normal 0 Atrophy 3 61 N.E. 4 Spastic gait, muscular weakness (leg), sensory disturbance (leg) Normal 0 Normal 4 30 Missense (S290W) 5 Spastic gait, sensory disturbance (leg), dysuria, dyschezia, impotence P, V 2.5 Normal 5 31 Missense (F540S) 5 Spastic gait V 0.5 Normal 6 24 Missense (A616D) 6 Spastic gait, sensory disturbance (leg), dysuria, impotence Normal 0 Normal 7 31 Frameshift (Y281) 8 Spastic gait, sensory disturbance (leg), dyschezia C 0.5 Normal 8 33 Missense (G277R) 8 Spastic gait, dysuria, dyschezia impotence P 2 Atrophy 9 58 N.E. 18 Spastic gait, dysuria Normal 0 Atrophy 10 58 N.E. 19 Spastic gait, impotence Normal 0 Normal MRI: magnetic resonance image, P: pyramidal system, V: visual pathway, C: cerebellum, N.E.: not examined. Login to comment
33 Case Age ABCD1 mutation Disease duration (years) Main symptom(s) Brain MRI Loes score Spinal MRI 1 32 Missense (H667N) 1 Spastic gait, pigmentation Normal 0 Normal 2 44 Nonsense (W595X) 1 Spastic gait, sensory disturbance (leg) Normal 0 Atrophy 3 61 N.E. 4 Spastic gait, muscular weakness (leg), sensory disturbance (leg) Normal 0 Normal 4 30 Missense (S290W) 5 Spastic gait, sensory disturbance (leg), dysuria, dyschezia, impotence P, V 2.5 Normal 5 31 Missense (F540S) 5 Spastic gait V 0.5 Normal 6 24 Missense (A616D) 6 Spastic gait, sensory disturbance (leg), dysuria, impotence Normal 0 Normal 7 31 Frameshift (Y281) 8 Spastic gait, sensory disturbance (leg), dyschezia C 0.5 Normal 8 33 Missense (G277R) 8 Spastic gait, dysuria, dyschezia impotence P 2 Atrophy 9 58 N.E. 18 Spastic gait, dysuria Normal 0 Atrophy 10 58 N.E. 19 Spastic gait, impotence Normal 0 Normal MRI: magnetic resonance image, P: pyramidal system, V: visual pathway, C: cerebellum, N.E.: not examined. Login to comment

PMID: 20661612 [PubMed] Matsukawa T et al: "Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes."

No. Sentence Comment

74 The five known SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) were in complete Table 1 Identified ABCD1 mutations: mutations of ABCD1 that result in devastating effects (frame shifts or nonsense mutations) on adrenoleukodystrophy protein (ALDP) Patient number Phenotype Mutation of ABCD1 Effect of mutation of ABCD1 1 CCALD 488C>AT Frameshift at P34 2 CCALD 2171G>A W595X 3 CCALD 5'UTR-Ex2 1.4-kb deletiona Disruption of gene structure 4 AdultCer Del. 986Ca Frameshift at D200 5 AdultCer Del. 1801-1802AGa Frameshift at Q472 6 AMN-Cer Del. 2251 GGTG ins. TGTTCTa Frameshift at R622 7 AMN Ins. 1237Ta Frameshift at Y281 8 AMN Del. 1801-1802AGa Frameshift at Q472 9 AMN 2171G>A W595X 10 AMN Del. 2251 GGTG ins. TGTTCTa Frameshift at R622 11 Unknown Del. 1541Ca Frameshift at F385 12 Unknown Ex8-10 0.3-kb deletiona Disruption of gene structure Amino acid residue numbers in ALDP are based on Mosser et al. [1]. Login to comment

PMID: 10190819 [PubMed] Takano H et al: "Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

39 Mutations in the ALD Gene That Result in Devastating Effects (Truncation) on ALDP* Patient No. Phenotype Mutation† Exon Effect of Mutation‡ Position of Mutation§ Family Data Large Genomic Rearrangement G4001(s) ACALD 0.5-kb deletion 1 Disruption of gene structure Exon 1 No family history G4002(s) ACALD 7-kb deletion 7-9 Disruption of gene structure Exons 7-8 No family history G4003(s) ACALD 10.6-kb deletion 6-10 Disruption of gene structure Exons 6-10 No family history Frameshift Mutation G4004 CCALD C488AT࿣ 1 Frameshift at P34 TM1 Symptomatic carrier G4005 ACALD ins.977T࿣ 1 Frameshift at L197 Between TM3 and TM4 Not available G4006 AMN del.1801-1802 5 Frameshift at E471 Between TM6 and Walker A Not available G4007(s) ACALD del.1801-1802 5 Frameshift at E471 Between TM6 and Walker A No family history G4008 CCALD del.1801-1802 5 Frameshift at E471 Between TM6 and Walker A Not available Nonsense Mutation G4009 CCALD G2171A࿣ 8 W595X Between Walker A and B CCALD *ALD indicates adrenoleukodystrophy; ALDP, ALD protein; ACALD, adult-onset cerebral ALD; CCALD, childhood cerebral ALD; AMN, adrenomyeloneuropathy; (s), apparently sporadic patients; ins., insert; and del., delete. Login to comment