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

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Lohmann E., Koroglu C., Hanagasi H. A., Dursun B., Tasan E., TOLUN A.

PARKINSONISM & RELATED DISORDERS, vol.18, no.2, pp.191-193, 2012 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 18 Issue: 2
• Publication Date: 2012
• Doi Number: 10.1016/j.parkreldis.2011.10.001
• Journal Name: PARKINSONISM & RELATED DISORDERS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.191-193
• Istanbul University Affiliated: Yes

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. (C) 2011 Elsevier Ltd. All rights reserved.