Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Article Details
- CitationCopy to clipboard
Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Am J Hum Genet. 1991 Aug;49(2):407-13.
- PubMed ID
- 1678251 [ View in PubMed]
- 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.