Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
Identifieur interne : 001416 ( Ncbi/Checkpoint ); précédent : 001415; suivant : 001417Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
Auteurs : Juliane Winkelmann [Allemagne] ; Peter Lichtner ; Benno Pütz ; Claudia Trenkwalder ; Stephanie Hauk ; Thomas Meitinger ; Tim Strom ; Bertram Muller-MyhsokSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 9, Female, Genes, Dominant (genetics), Genes, Recessive (genetics), Genetic Heterogeneity, Genetic Predisposition to Disease (genetics), Genotype, Humans, Lod Score, Male, Microsatellite Repeats, Middle Aged, Pedigree, Phenotype, Restless Legs Syndrome (genetics).
- MESH :
- genetics : Genes, Dominant, Genes, Recessive, Genetic Predisposition to Disease, Restless Legs Syndrome.
- Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 9, Female, Genetic Heterogeneity, Genotype, Humans, Lod Score, Male, Microsatellite Repeats, Middle Aged, Pedigree, Phenotype.
Abstract
Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q=0.25, f0=0.005, f1=0.005, f2=0.8; chromosome 14: q=0.003, f0=0.005, f1=f2=0.95; chromosome 9: q=0.001, f0=0.005, f1=f2=0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.
DOI: 10.1002/mds.20627
PubMed: 16124010
Affiliations:
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last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Putz, Benno" sort="Putz, Benno" uniqKey="Putz B" first="Benno" last="Pütz">Benno Pütz</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Hauk, Stephanie" sort="Hauk, Stephanie" uniqKey="Hauk S" first="Stephanie" last="Hauk">Stephanie Hauk</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Strom, Tim" sort="Strom, Tim" uniqKey="Strom T" first="Tim" last="Strom">Tim Strom</name></author><author><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Muller-Myhsok">Bertram Muller-Myhsok</name></author></titleStmt><publicationStmt><idno 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julianewinkelmann@t-online.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF-National Research Center for Environment and Health, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Putz, Benno" sort="Putz, Benno" uniqKey="Putz B" first="Benno" last="Pütz">Benno Pütz</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Hauk, Stephanie" sort="Hauk, Stephanie" uniqKey="Hauk S" first="Stephanie" last="Hauk">Stephanie Hauk</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Strom, Tim" sort="Strom, Tim" uniqKey="Strom T" first="Tim" last="Strom">Tim Strom</name></author><author><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Muller-Myhsok">Bertram Muller-Myhsok</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 12</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 9</term><term>Female</term><term>Genes, Dominant (genetics)</term><term>Genes, Recessive (genetics)</term><term>Genetic Heterogeneity</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Restless Legs Syndrome (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genes, Dominant</term><term>Genes, Recessive</term><term>Genetic Predisposition to Disease</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 12</term><term>Chromosomes, Human, Pair 14</term><term>Chromosomes, Human, Pair 9</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genotype</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q=0.25, f0=0.005, f1=0.005, f2=0.8; chromosome 14: q=0.003, f0=0.005, f1=f2=0.95; chromosome 9: q=0.001, f0=0.005, f1=f2=0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement></list><tree><noCountry><name sortKey="Hauk, Stephanie" sort="Hauk, Stephanie" uniqKey="Hauk S" first="Stephanie" last="Hauk">Stephanie Hauk</name><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><name sortKey="Muller Myhsok, Bertram" sort="Muller Myhsok, Bertram" uniqKey="Muller Myhsok B" first="Bertram" last="Muller-Myhsok">Bertram Muller-Myhsok</name><name sortKey="Putz, Benno" sort="Putz, Benno" uniqKey="Putz B" first="Benno" last="Pütz">Benno Pütz</name><name sortKey="Strom, Tim" sort="Strom, Tim" uniqKey="Strom T" first="Tim" last="Strom">Tim Strom</name><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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