De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene |
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| Authors: | A Barceló M Girós C O Sarde G Pintos J L Mandel T Pàmpols X Estivill |
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| Institution: | (1) Servei de Genètica, Hospital Clinic, Villarroel 170, E-08036 Barcelona, Spain;(2) Institut de Bioquímica Clínica, Corporació Sanitària, E-08290 Cerdanyola del Vallés, Spain;(3) Institut de Chimie Biologique, Faculté de Médécine, F-67085 Strasbourg, France;(4) Servei de Pediatria, Hospital Germans Trias i Pujol, E-08961 Badalona, Spain |
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| Abstract: | Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal  -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. |
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