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An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family

Ling, H; Polke, JM; Sweeney, MG; Haworth, A; Sandford, CA; Heales, SJR; Wood, NW; ... Lees, AJ; + view all (2011) An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family. MOVEMENT DISORD , 26 (5) 905 - 909. 10.1002/mds.23593.

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Abstract

Background: Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.Methods: We report a British family that has been followed for more than 20 years in which no mutations were previously identified.Results: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase-1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa-responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine.Conclusions: This is the first report of an intragenic guanosine triphosphate cyclohydrolase-1 duplication in a dopa-responsive dystonia family. (C) 2011 Movement Disorder Society

Type: Article
Title: An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family
DOI: 10.1002/mds.23593
Keywords: dopa-responsive dystonia, restless leg syndrome, migraine, GCH1 duplication, novel mutation, DEFICIENCY, MOTOR
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Genetics and Genomic Medicine Prog
URI: http://discovery.ucl.ac.uk/id/eprint/1058188
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