Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
Abstract
A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.
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ABCD1 soon proved to be the true X-ALD-causative gene.
“The newly discovered ABCD1 gene was doubtfully labeled by the journal Nature “a putative X-ALD gene” [23] but soon proved to be the true X-ALD-causative gene [99].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [99]
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Flück, C. E. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0128 · Cited by 75 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., & Aubourg, P.
- Affiliations
- Inserm (FR)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Aubourg, Patrick
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1993
- Volume
- 2
- Issue
- 11
- Pages
- 1949-1951
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2097239134
- Cited by
- 55
- References
- 0
- Citations by year
- 2025: 3 · 2022: 1 · 2017: 1 · 2013: 1 · 2012: 1
- FWCI
- 7.29
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, candidate genes, positional cloning, messenger RNA expression, transcript size, gene deletion, missense mutations, peroxisomal membrane proteins, fibroblasts
- MeSH terms
- Adrenoleukodystrophy, Amino Acid Sequence, Base Sequence, Cloning, Molecular, Exons, Female, Fibroblasts, Glutamates, Humans, Lysine, Male, Membrane Proteins, Microbodies, Molecular Sequence Data, Pedigree, RNA, Messenger, Transcription, Genetic, X Chromosome, Blotting, Northern, DNA Probes, Conserved Sequence, Point Mutation, Sequence Deletion, ATP-Binding Cassette Transporters, Glutamic Acid
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