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 f atty acids. The ALD gene has been identified and mutations have been d etected in ALD patients. We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitut ion at codon 174 (mutation Y174S). The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174 S arose de novo in the patient. Y174S is the first reported de novo mu tation in the ALD gene.