Article
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Neurogenetics - 1 Sept 2004
Steinberger Daniela, Blau Nenad, Goriuonov Dimitri, Bitsch Juliane, Zuker Michael, Hummel Sibylla, Müller Ulrich
Abstract excerpt
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...
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