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

Neurogenetics
D SteinbergerU Müller

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.

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Citations

Aug 10, 2010·Current Neurology and Neuroscience Reports·Susanne A Schneider, Kailash P Bhatia
Jun 6, 2009·Brain : a Journal of Neurology·Fabienne ClotUNKNOWN French Dystonia Network
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