De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male...

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Bibliographic Details
Published in:Human genetics 1995-02, Vol.95 (2), p.235-237
Main Authors: BARCELO, A, GIROS, M, SARDE, C. O, PINTOS, G, MANDEL, J. L, PAMPOLS, T, ESTIVILL, X
Format: Article
Language:English
Subjects:
adrenoleukodystrophy
Adrenoleukodystrophy - genetics
ALD gene
Base Sequence
Biochemistry, Molecular Biology
Biological and medical sciences
Child, Preschool
Errors of metabolism
Exons
Humans
Life Sciences
Lipids (lysosomal enzyme disorders, storage diseases)
Male
man
Medical sciences
Metabolic diseases
missense mutant
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
X chromosome
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Summary:Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Y174S is the first reported de novo mutation in the ALD gene.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00209412