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

@article{Levchenko2006ANA,
  title={A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13},
  author={Anastasia Levchenko and Sylvie Provost and Jacques Y. Montplaisir and Lan Xiong and Judith St‐Onge and Pascale Thibodeau and Jean-Baptiste Rivi{\`e}re and Alex Desautels and Gustavo Turecki and Marie-Pierre Dub{\'e} and Guy A. Rouleau},
  journal={Neurology},
  year={2006},
  volume={67},
  pages={900 - 901}
}
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 locus mapping to chromosome 20p13, with a maximum multipoint lod score of 3.86 at marker D20S849. This is the third reported autosomal-dominant locus for RLS and the first autosomal-dominant RLS locus in the French-Canadian population. 
Autosomal‐dominant locus for restless legs syndrome in French‐Canadians on chromosome 16p12.1
TLDR
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
TLDR
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.
A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree
TLDR
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.
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
TLDR
Evidence for a further RLS locus is provided, thus supporting the picture of RLS as a genetically heterogenous complex trait.
Evidence for linkage of restless legs syndrome to chromosome 9p
TLDR
A family with a rather homogeneous phenotype and very early disease onset represents a unique opportunity to further elucidate the genetic causes of the frequent restless leg syndrome and demonstrates linkage to a locus on chromosome 9p that is probably distinct from RLS3.
A Novel Locus for Restless Legs Syndrome on Chromosome 13q
TLDR
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.
Genetics of restless legs syndrome: evidence for a hereditary disorder
TLDR
It appears that familial RLS tends to have an earlier age of onset than sporadic cases, although the clinical characteristics of the two groups are quite similar.
Genetics of restless legs syndrome: evidence for a hereditary disorder
TLDR
It appears that familial RLS tends to have an earlier age of onset than sporadic cases, although the clinical characteristics of the two groups are quite similar.
Genetics of restless legs syndrome
TLDR
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.
Genetics of restless legs syndrome
TLDR
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.
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References

SHOWING 1-10 OF 10 REFERENCES
Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
TLDR
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.
Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p.
TLDR
RLS is established as a highly heritable trait, a novel genetic locus for RLS is identified, and the assumption of an autosomal-dominant mode of inheritance is validated, which will facilitate further cloning and identification of the genes.
Autosomal dominant restless legs syndrome maps on chromosome 14q.
TLDR
Significant evidence is shown of linkage to a new locus for RLS on chromosome 14q13-21 region in a 30-member, three-generation Italian family affected by RLS and periodic leg movements in sleep (PLMS), the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern.
Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families
TLDR
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.
Easy calculations of lod scores and genetic risks on small computers.
A computer program that calculates lod scores and genetic risks for a wide variety of both qualitative and quantitative genetic traits is discussed. An illustration is given of the joint use of a
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome.
TLDR
Markers within the screening sets were selected to have maximum quality, where quality was defined as a blend of high informativeness, strong amplification under standard PCR conditions, low amplification background, and ease in scoring.
Restless legs syndrome prevalence and impact: REST general population study.
TLDR
Clinically significant RLS is common (prevalence, 2.7%), is underdiagnosed, and significantly affects sleep and quality of life.
Mega2: data-handling for facilitating genetic linkage and association analyses
TLDR
Mega2 provides analysis setup capabilities for a broad choice of commonly used genetic analysis programs, including SimWalk2, ASPEX, GeneHunter, SLINK, SIMULATE, S.A.G.E., SOLAR, Vitesse, Allegro, PREST, PAP, Loki, Merlin and MENDEL.
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.
TLDR
Algorithms for implementing Thompson's suggestion for codominant markers in the context of automatic haplotyping, estimating location scores, and computing gene-clustering statistics for robust linkage analysis are explored.