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Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred by Antonetta M.G. Sas; Alessio Di Fonzo; Stef L.M. Bakker; Erik J. Simons; Ben A. Oostra; Anneke J. Maat-Kievit; Agnita J.W. Boon; Vincenzo Bonifati is a Medicine article available to read on EtoBox.

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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 RLS of early onset (average 18 years‐old). The clinical study included a follow‐up of 2 years. To map the underlying genetic defect, we performed a genome‐wide scan for linkage using high‐density SNP microarrays. A single, strong linkage peak was detected on chromosome 20p13, under an autosomal‐dominant model, in the region of the RLS‐5 locus (maximum multipoint LOD score 3.02). Haplotype analysis refined the RLS‐5 critical region from 5.2 to 4.5 megabases. In conclusion, we provide the first confirmation of the RLS‐5 locus, and we reduce its critical region. The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder. © 2010 Movement Disorder Society

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Author

Antonetta M.G. Sas; Alessio Di Fonzo; Stef L.M. Bakker; Erik J. Simons; Ben A. Oostra; Anneke J. Maat-Kievit; Agnita J.W. Boon; Vincenzo Bonifati

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)

Published

2010

Language

EN

Field

Medicine (Health Sciences)