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Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

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      Abstract

      We identified a patient suffering from late infantile metachromatic leukodystrophy who genetically seemed to be homozygous for the mutations signifying the arylsulfatase A pseudodeficiency allele. Homozygosity for the pseudodeficiency allele is associated with low arylsulfatase A activity but does not cause a disease. Analysis of the arylsulfatase A gene in this patient revealed a C----T transition in exon 2, causing a Ser 96----Phe substitution in addition to the sequence alterations causing arylsulfatase A pseudodeficiency. Although this mutation was found only in 1 of 78 metachromatic leukodystrophy patients tested, five more patients were identified who seemed hetero- or homozygous for the pseudodeficiency allele. The existence of nonfunctional arylsulfatase A alleles derived from the pseudodeficiency allele calls for caution when the diagnosis of arylsulfatase A pseudodeficiency is based solely on the identification of the mutations characterizing the pseudodeficiency allele.

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      Author and article information

      Affiliations
      [1 ] Department of Biochemistry II, Georg-August-University, Göttingen, Germany.
      Journal
      Am. J. Hum. Genet.
      American journal of human genetics
      0002-9297
      0002-9297
      Aug 1991
      : 49
      : 2
      1678251
      1683316

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