Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
- 6 July 2004
- journal article
- Published by Springer Nature in neurogenetics
- Vol. 5 (3) , 187-190
- https://doi.org/10.1007/s10048-004-0182-3
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.Keywords
This publication has 13 references indexed in Scilit:
- Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonismProceedings of the National Academy of Sciences, 2003
- Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase DeficiencyMolecular Genetics and Metabolism, 2001
- Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndromeNature Genetics, 2001
- Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without HyperphenylalaninemiaAmerican Journal of Human Genetics, 2001
- Tetrahydrobiopterin biosynthesis, regeneration and functionsBiochemical Journal, 2000
- Algorithms and Thermodynamics for RNA Secondary Structure Prediction: A Practical GuidePublished by Springer Nature ,1999
- Genomic Organization and Chromosomal Localization of the Human Sepiapterin Reductase GeneBiochemical and Biophysical Research Communications, 1998
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNature Genetics, 1997
- Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I geneNature Genetics, 1994
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989