A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree
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Date
2021-03-14
Authors
Skehan, Evelyn B.
Abdulrahim, Manal M. A.
Parfrey, Nollaig A.
Hand, Collette K.
Journal Title
Journal ISSN
Volume Title
Publisher
Springer
Published Version
Abstract
Restless legs syndrome (RLS) is a common, sleep-related movement disorder. The symptoms follow a circadian pattern, worsening in the evening or night, leading to sleep disruption and daytime somnolence. Familial forms of RLS have been described and usually display an autosomal dominant pattern of inheritance. To date, linkage analysis has identified nine RLS loci, but no specific causative gene has been reported. Association mapping has highlighted a further four genomic areas of interest. We have conducted a genome-wide linkage analysis in an Irish autosomal dominant RLS pedigree with 11 affected members. Significant linkage was found on chromosome 19p for a series of microsatellite markers, with a maximum two-point LOD score of 3.59 at θ = 0.0 for marker D19S878. Recombination events, identified by haplotype analysis, define a genetic region of 6.57 cM on chromosome 19p13.3, corresponding to an interval of 2.5 Mb. This study provides evidence of a novel RLS locus and provides further evidence that RLS is a genetically heterogenous disorder.
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Keywords
Restless legs syndrome , RLS , Genome-wide search , Linkage analysis , Locus , Movement disorder
Citation
Skehan, E.B., Abdulrahim, M.M.A., Parfrey, N.A. and Hand, C.K. (2012) ‘A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree’, Neurogenetics, 13(2), pp. 125–132. https://doi.org/10.1007/s10048-012-0317-x
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© Springer-Verlag 2012. This version of the article has been accepted for publication, after peer review and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1007/s10048-012-0317-x