NDLI: A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22

Content Provider	Springer Nature Link
Author	Chouery, E. Kfoury, J. Delague, V. Jalkh, N. Bejjani, P. Serre, J. L. Mégarbané, A.
Copyright Year	2008
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.
Starting Page	287
Ending Page	293
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	9
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2008-08-08
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Dystonia Homozygosity mapping Lod score Dopamine GABA Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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