Neurogenetics

, Volume 5, Issue 3, pp 187–190

Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

  • Daniela Steinberger
  • Nenad Blau
  • Dimitri Goriuonov
  • Juliane Bitsch
  • Michael Zuker
  • Sibylla Hummel
  • Ulrich Müller
Original Article

DOI: 10.1007/s10048-004-0182-3

Cite this article as:
Steinberger, D., Blau, N., Goriuonov, D. et al. Neurogenetics (2004) 5: 187. doi:10.1007/s10048-004-0182-3

Abstract.

The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase ( SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD). The mutation detected in SPR is a G→A transition at position –13 of the untranslated region of the gene. This resulted in drastically reduced activity of sepiapterin reductase in the patient’s fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD.

Keywords

Dopa-responsive dystoniaSepiapterin reductaseBiopterin metabolism GCH1

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Daniela Steinberger
    • 1
    • 5
  • Nenad Blau
    • 2
  • Dimitri Goriuonov
    • 2
  • Juliane Bitsch
    • 1
  • Michael Zuker
    • 3
  • Sibylla Hummel
    • 4
  • Ulrich Müller
    • 1
  1. 1.Institut für HumangenetikJustus-Liebig-UniversitätGermany
  2. 2.Division of Clinical Chemistry and BiochemistryUniversity Children’s HospitalZürichSwitzerland
  3. 3.Rensselaer Polytechnic InstituteTroyUSA
  4. 4.Neurologische UniversitätsklinikFreiburgGermany
  5. 5.Bioscientia Center for Human GeneticsIngelheimGermany