title: Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
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.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.
authors.forename: Daniela
authors.initials: D
authors.lastname: Steinberger
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Dimitri
authors.initials: D
authors.lastname: Goriuonov
authors.forename: Juliane
authors.initials: J
authors.lastname: Bitsch
authors.forename: Michael
authors.initials: M
authors.lastname: Zuker
authors.forename: Sibylla
authors.initials: S
authors.lastname: Hummel
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D015153:Blotting, Western; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism
chemical_list: D020121:5' Untranslated Regions; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase