title: A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
authors.affiliation: Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, Robert Debré Hospital, Paris, France. karkar.adnane@gmail.com.|Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Hassan II University, Casablanca, Morocco. karkar.adnane@gmail.com.
authors.forename: Adnane
authors.initials: A
authors.lastname: Karkar
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco. hamid.barakat@pasteur.ma.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco. amina_bakhchane@yahoo.fr.
authors.forename: Amina
authors.initials: A
authors.lastname: Bakhchane
authors.affiliation: Department of Neuropediatrics, Hassan II University Hospital, 9154, Casablanca, Morocco. h_fettahm@hotmail.com.
authors.forename: Houda
authors.initials: H
authors.lastname: Fettah
authors.affiliation: Department of Neurology, Hassan II University Hospital, 9154, Casablanca, Morocco. slassineuro@hotmail.com.
authors.forename: Ilham
authors.initials: I
authors.lastname: Slassi
authors.affiliation: Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France. imen.dorboz@inserm.fr.
authors.forename: Imen
authors.initials: I
authors.lastname: Dorboz
authors.affiliation: Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France. odile.boespflug-tanguy@rdb.aphp.fr.|Reference Center For Leukodystrophies, Department of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, Paris, France. odile.boespflug-tanguy@rdb.aphp.fr.
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.affiliation: Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Hassan II University, Casablanca, Morocco. nadifisel@yahoo.fr.
authors.forename: Sellama
authors.initials: S
authors.lastname: Nadifi
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D005091:Exons; D006720:Homozygote; D006801:Humans; D008297:Male; D009018:Morocco
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense