A new locus for restless legs syndrome maps to chromosome 4q

J. Winkelmann; P. Lichtner; B. Puetz; S. Hauk; C. Trenkwalder; T. Strom; T. Meitinger; B. Müller-Myhsok

doi:10.1055/s-2005-919219

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Aktuelle Neurologie 2005; 32 - V85
DOI: 10.1055/s-2005-919219

A new locus for restless legs syndrome maps to chromosome 4q

J Winkelmann ¹, P Lichtner ¹, B Puetz ¹, S Hauk ¹, C Trenkwalder ¹, T Strom ¹, T Meitinger ¹, B Müller-Myhsok ¹

¹Munich, Kassel

Congress Abstract

Three loci for RLS on chromosomes 12q, 14q and 9p (RLS-1, RLS-2 and RLS-3) have been mapped, with a recessive and autosomal-dominant mode of inheritance, respectively, but no gene has been identified so far. Investigations of further RLS families showed that there is evidence for genetic locus heterogeneity. We have conducted a genome-wide linkage analysis in a large RLS family using 400 STR markers. Linkage analysis was performed using an autosomal dominant model with a complete penetrance for homo- and heterozygotes an allele frequency of 0.003, and a phenocopy rate of 0.005.

Linkage analysis revealed a new locus for RLS on chromosome 4q. Further finemapping narrowed the critical region on chromosome 4q (4q25–4q28.3) to 31 Mb. The maximum two-point log of the odds (LOD) score value was 2.4, multipoint LOD score obtained was 3.08.

This study identifies a novel genetic locus for RLS on chromosome 4q (RLS-4). This linkage establishment will facilitate further cloning and identifying the genetic variants for RLS and will help to elucidate the molecular mechanism for the disease.