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Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia. 2012
Jessie Theuns, and
David Crosiers, and
Luc Debaene, and
Karen Nuytemans, and
Bram Meeus, and
Kristel Sleegers, and
Dirk Goossens, and
Ellen Corsmit, and
Ellen Elinck, and
Karin Peeters, and
Maria Mattheijssens, and
Barbara Pickut, and
Jurgen Del-Favero, and
Sebastiaan Engelborghs, and
Peter Paul De Deyn, and
Patrick Cras, and
Christine Van Broeckhoven
Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. jessie.theuns@molgen.vib-ua.be
BACKGROUND Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1. METHODS Genome-wide linkage analysis and positional cloning to identify the genetic defect in a Belgian AD-DRD family was carried out. CONCLUSIONS In this study, we report on the identification and characterization of a novel 24-kb deletion spanning exon 1 and the 5' regulatory region of GCH1 causing a wide spectrum of motor and nonmotor symptoms in a large Belgian AD-DRD family. This large-scale deletion of regulatory sequences leads to decreased GCH1 activity in all carriers, most probably resulting from allelic loss of transcription. We mapped the breakpoints of this deletion to the nucleotide level, allowing the development of a straightforward polymerase chain reaction assay for fast, efficient detection of this large deletion, which will prove valuable for preimplantation genetic diagnosis.
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