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Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1

✍ Scribed by Anastasia Levchenko; Jacques-Yves Montplaisir; Géraldine Asselin; Sylvie Provost; Simon L. Girard; Lan Xiong; Emmanuelle Lemyre; Judith St-Onge; Pascale Thibodeau; Alex Desautels; Gustavo Turecki; Claudia Gaspar; Marie-Pierre Dubé; Guy A. Rouleau

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
308 KB
Volume
24
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

We describe an autosomal‐dominant locus for Restless Legs Syndrome (RLS) in a French‐Canadian (FC) pedigree. Genome‐wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family. © 2008 Movement Disorder Society

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## Abstract Six chromosomal loci have been mapped for restless legs syndrome (RLS) through family‐based linkage analysis (RLS‐1 to RLS‐6), but confirmation has met with limited success, and causative mutations have not yet been identified. We ascertained a large multigenerational Dutch family with