Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

  title={Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13},
  author={David Kemlink and Giuseppe Plazzi and Roberto Vetrugno and Federica Provini and Olli Polo and Karin Stiasny‐Kolster and Wolfgang Hermann Oertel and Sona Nevsimalova and Karel {\vS}onka and Birgit H{\"o}gl and Birgit Frauscher and Georgios M. Hadjigeorgiou and Peter Paul Pramstaller and Peter Lichtner and Thomas Meitinger and Bertram M{\"u}ller-Myshok and Juliane Winkelmann and Pasquale Montagna},
  pages={75 - 82}
Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. Investigations of further RLS families showed evidence for genetic locus heterogeneity. We have conducted a genome-wide linkage analysis in a large RLS family of Italian origin with 12 affected members in 3 generations using 5,861 single nucleotide polymorphisms (SNP, 6K… 

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

A genome-wide linkage analysis in an Irish autosomal dominant RLS pedigree with 11 affected members provides evidence of a novel RLS locus and provides further evidence that RLS is a genetically heterogenous disorder.

A Novel Locus for Restless Legs Syndrome on Chromosome 13q

A genetic linkage at chromosome 13 in a RLS family is demonstrated and this result shows strong genetic linkage to this locus, which supports the genetic heterogeneity in the pathogenesis of this syndrome.

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

An autosomal‐dominant locus for Restless Legs Syndrome (RLS) in a French‐Canadian (FC) pedigree is described and copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region.

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred

The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder, and the critical region of the RLS‐5 locus is reduced.

[Advances in genetics of restless legs syndrome].

The most important findings achieved in genetic studies of RLS are reviewed and it is suggested that it is a highly heritable trait with heritability estimates of about 50%.

Genetics of restless legs syndrome

Genome-wide association studies identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBOXCOR1 andMEIS1 and LBXCOR1 that have weak and moderate effects and increase the risk of developing RLS.

Genetics of restless legs syndrome

The finding that the highest lod scores achieved were below the simulated scores in the respective families provided indirect evidence for the complexity of RLS.

Association of restless legs syndrome variants in Korean patients with restless legs syndrome.

The results suggest that the role of BTBD9 in the pathogenesis of restless legs syndrome is more universal across populations than previously reported and more efforts should be focused on the roleof epistasis in the genetic architecture of restless Legs syndrome.

Sleep Disorders Medicine




Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity.

The results support the presence of a major restless legs syndrome-susceptibility locus on chromosome 12q, which has been designated as RLS1, and suggest that at least one additional locus may be involved in the origin of this prevalent condition.

Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome

Evidence for linkage on chromosome 12 supports the existence of RLS‐1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLP, and further genome wide linkage analyses have the potential to identify additional RLS loci.

Family‐based association study of the restless legs syndrome loci 2 and 3 in a European population

Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS and represent the first confirmation of these loci in a mixed European population.

Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.

These findings represent the first mapping of a locus conferring susceptibility to RLS, and positioning the RLS-predisposing gene in a 14.71-cM region between D 12S1044 and D12S78 is refined.

RLS3: Fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity

A new locus for restless legs syndrome (RLS3) was identified on chromosome 9p24-22 and the region containing the autosomal dominant RLS3 locus is narrowed to 11.1 cM (16.6 Mbp).

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

The authors investigated genetic factors contributing to restless legs syndrome (RLS) by performing a 10-cM genome-wide scan in a large French-Canadian pedigree. They detected an autosomal-dominant

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

A genome-wide association study found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q.

Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families

The segregation pattern found in the authors' families argues for an autosomal allele acting dominantly in RLS families with an early age at onset of symptoms and suggests that RLS is a causative heterogeneous disease.

The 14q restless legs syndrome locus in the French Canadian population

A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin, providing support for the existence of this locus and indicating thatThis locus may be responsible for a small fraction of French Canadian restless Legs syndrome.

Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients.

It is shown that patients with hereditary RLS may experience an earlier onset of the disease, compared to those of non-hereditary RLS, which was similar in both groups.