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

@article{Liebetanz2006RLS3FO,
  title={RLS3: Fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity},
  author={K M Liebetanz and Juliane Winkelmann and Claudia Trenkwalder and Benno P{\"u}tz and Martin Dichgans and Thomas Gasser and Bertram M{\"u}ller-Myhsok},
  journal={Neurology},
  year={2006},
  volume={67},
  pages={320 - 321}
}
A new locus for restless legs syndrome (RLS3) was identified on chromosome 9p24-22. The authors analyzed transmission disequilibrium tests (TDTs) and affecteds-only linkage analysis in one large family of Bavarian origin, taking into account age at onset. P values were 0.0054 for marker D9S1810 for TDT and 0.0009 for the affecteds-only linkage analysis, providing a confirmation of RLS3. This study narrows the region containing the autosomal dominant RLS3 locus to 11.1 cM (16.6 Mbp). 
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42 Citations
Background Citations
7
Results Citations
1

42 Citations

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.
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.
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.
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.
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.
[Advances in genetics of restless legs syndrome].
TLDR
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%.
Clinical overview and phenomenology of movement disorders
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