title: Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.
abstract: 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.
authors.affiliation: Department of Neurology, Medical University of Lübeck, Germany. klein_ch@neuro.mu-luebeck.de
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: K
authors.initials: K
authors.lastname: Hedrich
authors.forename: K
authors.initials: K
authors.lastname: Kabakçi
authors.forename: K
authors.initials: K
authors.lastname: Mohrmann
authors.forename: K
authors.initials: K
authors.lastname: Wiegers
authors.forename: O
authors.initials: O
authors.lastname: Landt
authors.forename: J
authors.initials: J
authors.lastname: Hagenah
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: P P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: K
authors.initials: K
authors.lastname: Gucuyener
authors.forename: S
authors.initials: S
authors.lastname: Aysun
authors.forename: E
authors.initials: E
authors.lastname: Demir
mesh_terms: D000328:Adult; D002648:Child; D004247:DNA / Q000235:genetics; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D015259:Dopamine Agents / Q000627:therapeutic use*; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014421:Turkey
chemical_list: D015259:Dopamine Agents; D004295:Dihydroxyphenylalanine; D004247:DNA; D006136:GTP Cyclohydrolase