Skip to main content
SpringerLink
Log in

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

  • Short Communication
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Chou PY, Fasman GD (1974) Prediction of protein conformation. Biochemistry 13:222–245

    Google Scholar 

  • Garnier J, Osguthorpe DJ, Robson B (1978) Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J Mol Biol 120:97–120

    Google Scholar 

  • Gieselmann V, Fluharty AL, Tønnesen T, Figura K von (1991) Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet 49:407–413

    Google Scholar 

  • Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4:233–242

    Google Scholar 

  • Luyten JAFM (1991) Metachromatic leukodystrophy. In: Vinken JPJ, Bruyn GW, Klawans HL (eds) Handbook of clinical neurology, vol 60. Elsevier, Amsterdam, pp 123–129

    Google Scholar 

  • Polten A, Fluharty AL, Fluharty CB, Kappler J, Figura K von, Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324:18–22

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Reinier Postlaan 4, P.O.Box 9101, 6500, HB Nijmegen, The Netherlands

    Jan A. F. M. Luyten, Gerry C. H. Steenbergen-Spanjers, Ron A. Wevers, Jan G. N. de Jong & Lambert P. W. J. van den Heuvel

  2. Diagnostic DNA Laboratory, University Hospital Utrecht, Utrecht, The Netherlands

    Paul W. Wenink

  3. DNA Laboratory, Clinical Genetics Centre, Utrecht, The Netherlands

    Hans Kristian Ploos van Amstel

Authors
  1. Jan A. F. M. Luyten
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Paul W. Wenink
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gerry C. H. Steenbergen-Spanjers
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ron A. Wevers
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hans Kristian Ploos van Amstel
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jan G. N. de Jong
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Lambert P. W. J. van den Heuvel
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Luyten, J.A.F.M., Wenink, P.W., Steenbergen-Spanjers, G.C.H. et al. Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant. Hum Genet 96, 357–360 (1995). https://doi.org/10.1007/BF00210424

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00210424

Keywords

Search

Navigation