ArticleNeurogenetics2008
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.
Article in Neurogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 49 citations in OpenAlex.
- Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.Scientific reports · 2016Article
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.American journal of human genetics · 2015Article
- Mutations in HPCA cause autosomal-recessive primary isolated dystonia.American journal of human genetics · 2015Article
- Primary dystonia: moribund or viable.Movement disorders : official journal of the Movement Disorder Society · 2013Review
- Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.Annals of neurology · 2013Article
- Genetic issues in the diagnosis of dystonias.Frontiers in neurology · 2013Article
- DYT16: the original cases.Journal of neurology, neurosurgery, and psychiatry · 2012Article
- THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.Movement disorders : official journal of the Movement Disorder Society · 2012Review
- Update on pediatric dystonias: etiology, epidemiology, and management.Degenerative neurological and neuromuscular disease · 2012Review
- The genetics of dystonias.Advances in genetics · 2012Review
- Genetic and clinical features of primary torsion dystonia.Neurobiology of disease · 2011Review
- Genetics of primary torsion dystonia.Current neurology and neuroscience reports · 2010Review
- Secondary dystonia-clinical clues and syndromic associations.Journal of movement disorders · 2009Review
- What's new in dystonia?Current neurology and neuroscience reports · 2009Review
- Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.The Lancet. Neurology · 2009Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary torsion dystonia is a clinically and genetically heterogeneous group of movement disorders. Fifteen different types of dystonia have been described to date, of whom 14 loci have been mapped, but only seven genes identified. Several different modes of inheritance have been described, including autosomal dominant transmission with reduced penetrance (12 loci), recessive X-linked (one locus), and autosomal recessive transmission (three loci). In this study, we describe the localization of a novel form of autosomal recessive, primary focal torsion dystonia using a genomewide search in a large consanguineous Lebanese family with three affected individuals. Homozygosity mapping with 382 microsatellite markers was conducted. Linkage analysis and haplotype construction allowed us to identify a novel locus designated as DYT17, within a 20.5-Mb interval on chromosome 20. Of the 270 known genes spread on this interval, 27 candidate genes were tested and excluded as responsible for the disease. Fine mapping by identification of other dystonia families linked to chromosome 20 and sequencing of candidate genes in the refined interval is required in order to identify the causative gene in DYT17.
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