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- W1991601013 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. 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." @default.
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- W1991601013 date "2008-10-01" @default.
- W1991601013 modified "2023-09-27" @default.
- W1991601013 title "De Novo ABCD1 Gene Mutation in an Indian Patient With Adrenoleukodystrophy" @default.
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- W1991601013 doi "https://doi.org/10.1016/j.pediatrneurol.2008.07.006" @default.
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