Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
Identifieur interne : 002D12 ( Ncbi/Curation ); précédent : 002D11; suivant : 002D13Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
Auteurs : Antonetta M G. Sas [Pays-Bas] ; Alessio Di Fonzo ; Stef L M. Bakker ; Erik J. Simons ; Ben A. Oostra ; Anneke J. Maat-Kievit ; Agnita J W. Boon ; Vincenzo BonifatiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Chromosome Mapping, Chromosomes, Human, Pair 20 (genetics), Female, Gene Expression Profiling (methods), Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lod Score, Male, Middle Aged, Oligonucleotide Array Sequence Analysis (methods), Pedigree, Restless Legs Syndrome (genetics), Young Adult.
- MESH :
- genetics : Chromosomes, Human, Pair 20, Restless Legs Syndrome.
- methods : Gene Expression Profiling, Oligonucleotide Array Sequence Analysis.
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Chromosome Mapping, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lod Score, Male, Middle Aged, Pedigree, Young Adult.
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.
DOI: 10.1002/mds.23248
PubMed: 20645405
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.</title><author><name sortKey="Sas, Antonetta M G" sort="Sas, Antonetta M G" uniqKey="Sas A" first="Antonetta M G" last="Sas">Antonetta M G. Sas</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Erasmus MC Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Erasmus MC Rotterdam</wicri:regionArea><wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion></affiliation></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></author><author><name sortKey="Bakker, Stef L M" sort="Bakker, Stef L M" uniqKey="Bakker S" first="Stef L M" last="Bakker">Stef L M. Bakker</name></author><author><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J" last="Simons">Erik J. Simons</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name></author><author><name sortKey="Maat Kievit, Anneke J" sort="Maat Kievit, Anneke J" uniqKey="Maat Kievit A" first="Anneke J" last="Maat-Kievit">Anneke J. Maat-Kievit</name></author><author><name sortKey="Boon, Agnita J W" sort="Boon, Agnita J W" uniqKey="Boon A" first="Agnita J W" last="Boon">Agnita J W. Boon</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23248</idno><idno type="RBID">pubmed:20645405</idno><idno type="pmid">20645405</idno><idno type="wicri:Area/PubMed/Corpus">001705</idno><idno type="wicri:Area/PubMed/Curation">001705</idno><idno type="wicri:Area/PubMed/Checkpoint">001A31</idno><idno type="wicri:Area/Ncbi/Merge">002D12</idno><idno type="wicri:Area/Ncbi/Curation">002D12</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.</title><author><name sortKey="Sas, Antonetta M G" sort="Sas, Antonetta M G" uniqKey="Sas A" first="Antonetta M G" last="Sas">Antonetta M G. Sas</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Erasmus MC Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Erasmus MC Rotterdam</wicri:regionArea><wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion></affiliation></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></author><author><name sortKey="Bakker, Stef L M" sort="Bakker, Stef L M" uniqKey="Bakker S" first="Stef L M" last="Bakker">Stef L M. Bakker</name></author><author><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J" last="Simons">Erik J. Simons</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name></author><author><name sortKey="Maat Kievit, Anneke J" sort="Maat Kievit, Anneke J" uniqKey="Maat Kievit A" first="Anneke J" last="Maat-Kievit">Anneke J. Maat-Kievit</name></author><author><name sortKey="Boon, Agnita J W" sort="Boon, Agnita J W" uniqKey="Boon A" first="Agnita J W" last="Boon">Agnita J W. Boon</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 20 (genetics)</term><term>Female</term><term>Gene Expression Profiling (methods)</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Oligonucleotide Array Sequence Analysis (methods)</term><term>Pedigree</term><term>Restless Legs Syndrome (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 20</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Gene Expression Profiling</term><term>Oligonucleotide Array Sequence Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Chromosome Mapping</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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