Human Genetics

, Volume 87, Issue 2, pp 155–158

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

  • Wolfgang Bohne
  • Kurt von Figura
  • Volkmar Gieselmann
Original Investigations

DOI: 10.1007/BF00204172

Cite this article as:
Bohne, W., von Figura, K. & Gieselmann, V. Hum Genet (1991) 87: 155. doi:10.1007/BF00204172

Summary

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an 11-bp deletion in exon 8. Although this allele produces normal amounts of ASA mRNA, no arylsulfatase A cross-reacting material could be detected in cultured fibroblasts from the patient. The patient was found to be a compound heterozygote, the other allele is also known to generate no ASA polypeptides. This patient is another example where absence of ASA polypeptides correlates with the severe late infantile form of metachromatic leukodystrophy.

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Wolfgang Bohne
    • 1
  • Kurt von Figura
    • 1
  • Volkmar Gieselmann
    • 1
  1. 1.Abteilung Biochemie IIGeorg-August-UniversitätGöttingenFederal Republic of Germany