ABCD1 p.Tyr559Cys
| Predicted by SNAP2: | A: D (85%), C: D (80%), D: D (95%), E: D (95%), F: D (71%), G: D (91%), H: D (91%), I: D (85%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (95%), Q: D (91%), R: D (91%), S: D (91%), T: D (91%), V: D (85%), W: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, |
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[hide] A novel mutation in the ABCD1 gene of a Moroccan p... BMC Neurol. 2015 Nov 25;15(1):244. doi: 10.1186/s12883-015-0503-1. Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
BMC Neurol. 2015 Nov 25;15(1):244. doi: 10.1186/s12883-015-0503-1., [PMID:26607867]
Abstract [show]
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter. CASE PRESENTATION: In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7. CONCLUSION: Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
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No. Sentence Comment
43 In our study, we identified a novel nonsense mutation in exon 7 (c.1677C > G; p.(Tyr559*)) of a Moroccan patient, there is also another mutation found in the same residue by J. Haasjes & P.A.W. Mooijer in The Netherlands and S.J.S. Steinberg in USA but the nucleotide change is in one position behind our mutation (c.1676A > G; p.(Tyr559Cys)), this mutation is one of the unpublished data in the X-ALD database (http://www.x-ald.nl).
X
ABCD1 p.Tyr559Cys 26607867:43:331
status: NEW