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Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
INSERM U342, Hôpital Saint Vincent de Paul, Paris, France.
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.
PMID: 7904210 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P.
Am J Hum Genet. 1996 Jun; 58(6):1135-44.
[Am J Hum Genet. 1996]
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Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P.
J Clin Invest. 1994 Aug; 94(2):516-20.
[J Clin Invest. 1994]
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Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Cartier N, Lopez J, Moullier P, Rocchiccioli F, Rolland MO, Jorge P, Mosser J, Mandel JL, Bougnères PF, Danos O.
Proc Natl Acad Sci U S A. 1995 Feb 28; 92(5):1674-8.
[Proc Natl Acad Sci U S A. 1995]
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