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

A. Barceló, M. Girós, C. O. Sarde, G. Pintos, J. L. Mandel, T. Pàmpols, Xavier P. Estivill

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal β-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.

Original languageEnglish
Pages (from-to)235-237
Number of pages3
JournalHuman Genetics
Volume95
Issue number2
DOIs
Publication statusPublished - Feb 1995
Externally publishedYes

Fingerprint

Adrenoleukodystrophy
Missense Mutation
Exons
Genes
Mutation
Codon
Serine
Tyrosine
Leukocytes
Fatty Acids
Mothers
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Barceló, A., Girós, M., Sarde, C. O., Pintos, G., Mandel, J. L., Pàmpols, T., & Estivill, X. P. (1995). De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Human Genetics, 95(2), 235-237. https://doi.org/10.1007/BF00209412

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. / Barceló, A.; Girós, M.; Sarde, C. O.; Pintos, G.; Mandel, J. L.; Pàmpols, T.; Estivill, Xavier P.

In: Human Genetics, Vol. 95, No. 2, 02.1995, p. 235-237.

Research output: Contribution to journalArticle

Barceló, A, Girós, M, Sarde, CO, Pintos, G, Mandel, JL, Pàmpols, T & Estivill, XP 1995, 'De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene', Human Genetics, vol. 95, no. 2, pp. 235-237. https://doi.org/10.1007/BF00209412
Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T et al. De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Human Genetics. 1995 Feb;95(2):235-237. https://doi.org/10.1007/BF00209412
Barceló, A. ; Girós, M. ; Sarde, C. O. ; Pintos, G. ; Mandel, J. L. ; Pàmpols, T. ; Estivill, Xavier P. / De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. In: Human Genetics. 1995 ; Vol. 95, No. 2. pp. 235-237.
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