A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree

Simple item page
dc.contributor.authorSkehan, Evelyn B.
dc.contributor.authorAbdulrahim, Manal M. A.
dc.contributor.authorParfrey, Nollaig A.
dc.contributor.authorHand, Collette K.
dc.date.accessioned2022-12-21T15:59:11Z
dc.date.available2022-12-21T15:59:11Z
dc.date.issued2021-03-14
dc.description.abstractRestless 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.en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationSkehan, 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-xen
dc.identifier.doi10.1007/s10048-012-0317-xen
dc.identifier.eissn1364-6753
dc.identifier.endpage132en
dc.identifier.issn1364-6745
dc.identifier.journaltitleNeurogeneticsen
dc.identifier.startpage125en
dc.identifier.urihttps://hdl.handle.net/10468/13998
dc.identifier.volume13en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urihttps://doi.org/10.1007/s10048-012-0317-x
dc.rights© 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-xen
dc.subjectRestless legs syndromeen
dc.subjectRLSen
dc.subjectGenome-wide searchen
dc.subjectLinkage analysisen
dc.subjectLocusen
dc.subjectMovement disorderen
dc.titleA novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigreeen
dc.typeArticle (peer-reviewed)en
Files
Original bundle
Now showing 1 - 2 of 2
Thumbnail Image
Name:
Skehan12 CORA A novel locus for restless legs syndrome_AV.pdf
Size:
402.25 KB
Format:
Adobe Portable Document Format
Description:
Accepted version
Download
Thumbnail Image
Name:
10048_2012_317_MOESM1_ESM.docx
Size:
18.57 KB
Format:
Microsoft Word XML
Description:
Supplementary material
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
2.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Pathology - Journal Articles