title: De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.
abstract: A large number of ABCD1 gene mutations have been reported all over the world, but not previously in India. We report on the first known patient with childhood cerebral adrenoleukodystrophy and a de novo 3' splice-site mutation in this gene. Magnetic resonance imaging of the brain revealed large, confluent, hyperintense areas in the bilateral cerebral white matter, predominantly parieto-occipital, with extensions into posterior regions that led to breakdown of the blood-brain barrier. An increased level of very long chain fatty acids was also consistent with the biochemical defect for adrenoleukodystrophy. Sequencing of the ABCD1 gene of this patient identified a 3' splice-site mutation in the intervening sequence 4 (-2a > g). We did not find any mutation in the gene of the proband's mother, which confirms its de novo occurrence.
authors.affiliation: Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India.
authors.forename: Neeraj
authors.initials: N
authors.lastname: Kumar
authors.forename: Pallavi
authors.initials: P
authors.lastname: Shukla
authors.forename: Krishna K
authors.initials: KK
authors.lastname: Taneja
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
authors.forename: Surendra K
authors.initials: SK
authors.lastname: Bansal
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters