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A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Authors
Journal
Parkinsonism & Related Disorders
1353-8020
Publisher
Elsevier
Volume
18
Issue
2
Identifiers
DOI: 10.1016/j.parkreldis.2011.10.001
Keywords
  • Sepiapterin Reductase
  • Parkinsonism
  • Hypotonia
Disciplines
  • Medicine

Abstract

Abstract We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs. By exome sequencing, we found a homozygous five-nucleotide deletion (c.448_452delAGAAC) in gene Sepiapterin Reductase (SPR). The mutation is predicted to lead to premature translational termination. Sepiapterin reductase deficiency (SRD) is a recently recognized dopa-responsive dystonia. Our findings show that SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease.

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