ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

@article{Kemp2001ABCD1MA,
  title={ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations},
  author={Stephan Kemp and Aurora Pujol and Hans R Waterham and Bj{\"o}rn M. van Geel and Corinne D. Boehm and G V Raymond and Garry R. Cutting and Ronald J.A. Wanders and Hugo W. Moser},
  journal={Human Mutation},
  year={2001},
  volume={18}
}
X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import of very long‐chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unpredictable variation in phenotypic expression. Phenotypes include the rapidly progressive childhood cerebral form (CCALD), the milder adult form, adrenomyeloneuropathy (AMN), and variants without neurologic involvement. There is… Expand
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Analysis of genomic DNA from ALD probands for mutations supports the supposition that mutations in the putative ALD gene result in ALD. Expand
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1. Childhood ALD is the more severe form,Expand
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The immunodetection of ALDP in white blood cells can be applicable in a majority of ALD kindred, to identify heterozygous women, particularly when the ALD gene mutation has not yet been identified. Expand
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The ABCD1 gene in probands from 11 unrelated X‐ALD Czech and Slovak families was examined by the direct sequencing of cDNA or genomic PCR products and two novel polymorphisms were found, both causing amino acid exchanges (N13T and K217E). Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
It is proposed that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes must have originated by means of additional pathogenetic factors. Expand
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