ABCMdb

PMID: 18481121

Fogel BL, Young P, Thompson AR, Perlman S
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.
Neurogenetics. 2008 Jul;9(3):215-8. Epub 2008 May 15., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCD1 p.Arg617His The R617H mutation, in exon 8, lies within the ATP-binding domain [6] and results in complete absence of the protein in fibroblast cell lines by immunofluorescence detection, presumably through protein destabilization [6]. Login to comment 57 ABCD1 p.Arg617His ABCD1 p.Arg617His ABCD1 p.Arg617His ABCD1 p.Arg617His Table 1 The clinical phenotypes of the proband and other family members are shown IV-16 IV-15 III-10 III-4 Age 19 22 51 61 Onset age (ALD) 17 asymp asymp asymp Cognition - - - - Dysarthria - - - - CN/Bulbar palsies - - - - Visual loss - - - - Pes cavus + + + - Amyotrophy distal - - - Weakness distal - - - ↓ Touch/pain - - - - ↓ Vibration + + + - ↓ Temperature + - - - ↓ Proprioception + - - - Leg spasticity + + + - Hyper-reflexia + + + - Extensor plantars + + + - Ataxia - - - - Gait spastic - - - EPS - - - - Bladder dysfunction + - - - Epilepsy - - - - Factor VIII 5% 4% np 5% C26:0 (μmol/L) 2.37 2.84 1.54 0.73 ACTH (pg/mL) 728 144 11 9 F8 Mutation np np np L1929P ABCD1 Mutation R617H R617H R617H - EMG AOC np np np NCS ASM np np np MRI DWM np np np Plus sign indicates a feature is present, minus sign indicates normal function or absence of the specified finding, downwards arrow indicates reduced sensation. Login to comment 58 ABCD1 p.Arg617His ABCD1 p.Arg617His ABCD1 p.Arg617His Table 1 The clinical phenotypes of the proband and other family members are shown IV-16 IV-15 III-10 III-4 Age 19 22 51 61 Onset age (ALD) 17 asymp asymp asymp Cognition - - - - Dysarthria - - - - CN/Bulbar palsies - - - - Visual loss - - - - Pes cavus + + + - Amyotrophy distal - - - Weakness distal - - - ࢑ Touch/pain - - - - ࢑ Vibration + + + - ࢑ Temperature + - - - ࢑ Proprioception + - - - Leg spasticity + + + - Hyper-reflexia + + + - Extensor plantars + + + - Ataxia - - - - Gait spastic - - - EPS - - - - Bladder dysfunction + - - - Epilepsy - - - - Factor VIII 5% 4% np 5% C26:0 (bc;mol/L) 2.37 2.84 1.54 0.73 ACTH (pg/mL) 728 144 11 9 F8 Mutation np np np L1929P ABCD1 Mutation R617H R617H R617H - EMG AOC np np np NCS ASM np np np MRI DWM np np np Plus sign indicates a feature is present, minus sign indicates normal function or absence of the specified finding, downwards arrow indicates reduced sensation. Login to comment 67 ABCD1 p.Arg617His Of interest, a recent molecular analysis of 21 ALD Portuguese families did not identify the R617H mutation [13] suggesting that the ALD mutations in these two families are distinct, although it is unclear if any members from the original family described with hemophilia A were included in the analysis. Login to comment 68 ABCD1 p.Arg617His Of interest, a recent molecular analysis of 21 ALD Portuguese families did not identify the R617H mutation [13] suggesting that the ALD mutations in these two families are distinct, although it is unclear if any members from the original family described with hemophilia A were included in the analysis. Login to comment