Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

Klein C., Hedrich K., Kabakci K., Mohrmann K., Wiegers K., Landt O., ...More

NEUROLOGY, vol.59, no.11, pp.1783-1786, 2002 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 11
  • Publication Date: 2002
  • Doi Number: 10.1212/01.wnl.0000035629.04791.3f
  • Title of Journal : NEUROLOGY
  • Page Numbers: pp.1783-1786


Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.