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- Title
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
- Authors
Steinberger, Daniela; Blau, Nenad; Goriuonov, Dimitri; Blitsch, Juliane; Zuker, Michael; Hummel, Sibylla; Müller, Ulrich
- 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.
- Publication
Neurogenetics, 2004, Vol 5, Issue 3, p187
- ISSN
1364-6745
- Publication type
Academic Journal
- DOI
10.1007/s10048-004-0182-3