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Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

An Erratum to this article was published on 29 November 2006


We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of family 1, and partial deletions in affected individuals of family 2 (exons 4–6) and of family 3 (exons 2–6). The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene.

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Investigation of probands was performed according to the principles of the World Medical Association Declaration of Helsinki (WMA General Assembly, 2004). Jutta Trübenbach and Birgit Zirn contributed equally to this work.

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Correspondence to Daniela Steinberger or Ulrich Müller.

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An erratum to this article can be found at

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Steinberger, D., Trübenbach, J., Zirn, B. et al. Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia. Neurogenetics 8, 51–55 (2007).

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  • Dopa-responsive dystonia
  • DRD
  • GCH1 deletions
  • MLPA
  • qPCR