A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

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 associ...

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Bibliographic Details
Published in:BMC neurology 2015-11, Vol.15 (1), p.244-244, Article 244
Main Authors: Karkar, Adnane, Barakat, Abdelhamid, Bakhchane, Amina, Fettah, Houda, Slassi, Ilham, Dorboz, Imen, Boespflug-Tanguy, Odile, Nadifi, Sellama
Format: Article
Language:English
Subjects:
Adrenoleukodystrophy - genetics
ATP Binding Cassette Transporter, Sub-Family D, Member 1
ATP-Binding Cassette Transporters - genetics
Case Report
Child
Codon, Nonsense
Exons
Fatty acids
Genes
Genetic aspects
Homozygote
Humans
Life Sciences
Male
Morocco
Nervous system diseases
Protein binding
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Summary: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. 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. Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
ISSN:1471-2377
1471-2377
DOI:10.1186/s12883-015-0503-1