PMID: 26607867

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., [PubMed]
Sentences
No. Mutations Sentence Comment
43 ABCD1 p.Tyr559Cys
X
ABCD1 p.Tyr559Cys 26607867:43:331
status: NEW
view ABCD1 p.Tyr559Cys details
 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 G; p.(Tyr559Cys)), this mutation is one of the unpublished data in the X-ALD database (http://www.x-ald.nl). Login to comment 46 ABCD1 p.Ala95Asp
X
ABCD1 p.Ala95Asp 26607867:46:74
status: NEW
view ABCD1 p.Ala95Asp details
 In the North African population, only two other mutations (c.284C > A; p.(Ala95Asp)) and (c.1780 + 2 T > G) of ABCD1 gene were described in Tunisian patients [11, 12] . Login to comment