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., ...Daha Fazla

NEUROLOGY, cilt.59, sa.11, ss.1783-1786, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Konu: 11
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1212/01.wnl.0000035629.04791.3f
  • Dergi Adı: NEUROLOGY
  • Sayfa Sayıları: ss.1783-1786

Özet

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.