Original Article

Neurogenetics

, Volume 9, Issue 4, pp 287-293

First online:

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

  • E. ChoueryAffiliated withUnité de Génétique Médicale, Faculté de Médecine, Université Saint-JosephUniversité de Versailles-Saint Quentin en Yvelines
  • , J. KfouryAffiliated withUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph
  • , V. DelagueAffiliated withINSERM UMR_S 910, “Génétique Médicale et Génomique Fonctionnelle” Faculté de Médecine de la Timone, Université de la Méditerranée
  • , N. JalkhAffiliated withUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph
  • , P. BejjaniAffiliated withNeurology departement, Notre Dame des Secours Hospital
  • , J. L. SerreAffiliated withUniversité de Versailles-Saint Quentin en Yvelines
  • , A. MégarbanéAffiliated withUnité de Génétique Médicale, Faculté de Médecine, Université Saint-JosephUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.

Keywords

Dystonia Homozygosity mapping Lod score Dopamine GABA