Journal
NEUROGENETICS
Volume 5, Issue 3, Pages 187-190Publisher
SPRINGER
DOI: 10.1007/s10048-004-0182-3
Keywords
dopa-responsive dystonia; sepiapterin reductase; biopterin metabolism; GCH1
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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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