Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred
Identifieur interne : 001E41 ( Main/Exploration ); précédent : 001E40; suivant : 001E42Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred
Auteurs : Antonetta M. G. Sas [Pays-Bas] ; Alessio Di Fonzo [Pays-Bas, Italie] ; Stef L. M. Bakker [Pays-Bas] ; Erik J. Simons [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Anneke J. Maat-Kievit [Pays-Bas] ; Agnita J. W. Boon [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-08-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cartographie.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Cartography, Child, Chromosome, Chromosome Mapping, Chromosomes, Human, Pair 20 (genetics), Dutch, Female, Gene Expression Profiling (methods), Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lod Score, Male, Middle Aged, Nervous system diseases, Oligonucleotide Array Sequence Analysis (methods), Pedigree, RLS, RLS‐5, Restless Legs Syndrome (genetics), Restless legs syndrome, Young Adult, genetics, linkage mapping, restless legs syndrome.
- 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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23248
Affiliations:
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Boon</name><affiliation wicri:level="1"><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><affiliation><wicri:noCountry code="subField">Dr. Molewaterplein 50/Dr</wicri:noCountry></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus MC Rotterdam</wicri:regionArea><wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion></affiliation><affiliation><wicri:noCountry code="subField">Dr. Molewaterplein 50/Dr</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-08-15">2010-08-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1715">1715</biblScope><biblScope unit="page" to="1722">1722</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E67B556158E8B18F660C389C12CB70A64E24EFF3</idno><idno type="DOI">10.1002/mds.23248</idno><idno type="ArticleID">MDS23248</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></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>Cartography</term><term>Child</term><term>Chromosome</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 20 (genetics)</term><term>Dutch</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>Nervous system diseases</term><term>Oligonucleotide Array Sequence Analysis (methods)</term><term>Pedigree</term><term>RLS</term><term>RLS‐5</term><term>Restless Legs Syndrome (genetics)</term><term>Restless legs syndrome</term><term>Young Adult</term><term>genetics</term><term>linkage mapping</term><term>restless legs syndrome</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><keywords scheme="Pascal" xml:lang="fr"><term>Cartographie</term><term>Chromosome</term><term>Néerlandais</term><term>Pathologie du système nerveux</term><term>Syndrome des jambes sans repos</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cartographie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><noRegion><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></noRegion><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><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><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><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name><name sortKey="Maat Ievit, Anneke J" sort="Maat Ievit, Anneke J" uniqKey="Maat Ievit A" first="Anneke J." last="Maat-Kievit">Anneke J. Maat-Kievit</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J." last="Simons">Erik J. Simons</name></country><country name="Italie"><noRegion><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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