Unbalanced whole arm translocation resulting in loss of 18p in dystonia.
Identifieur interne : 001603 ( Ncbi/Merge ); précédent : 001602; suivant : 001604Unbalanced whole arm translocation resulting in loss of 18p in dystonia.
Auteurs : Jamal Nasir [Royaume-Uni] ; Nafsika Frima ; Ben Pickard ; M Pat Malloy ; Lingping Zhan ; Richard GrünewaldSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- MESH :
Abstract
Dystonia represents a genetically and clinically heterogeneous disorder, characterized by abnormal and sustained muscle contractions and rigid postures. At least 15 different loci (DYT1-DYT15) have been identified in dystonia. Adult-onset idiopathic focal dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp), is mostly associated with the DYT7 locus, which was originally mapped to chromosome 18p by genomewide linkage analysis in a large family showing autosomal dominant inheritance. We have identified a family in which the mother is affected with dystonia and the son shows signs of dystonia. Using fluorescent BAC probes spanning 18p, we were able to identify a deletion in these two individuals, spanning the entire short arm of 18p. This deletion is accompanied by a centric fusion involving chromosome 14. The 18p deleted region spans 15 megabases of DNA, with a number of interesting DYT7 candidate genes, including genes involved in G-protein-coupled signaling (GNAL), cell death (CIDEA), muscle development (MYOM1 and MRLM), mitochondrial activity (NDUFV2), and neuronal function (ADYCAP1, TGIF, DAP-1, and AFG3L2).
DOI: 10.1002/mds.20846
PubMed: 16541453
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pubmed:16541453Le document en format XML
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<author><name sortKey="Nasir, Jamal" sort="Nasir, Jamal" uniqKey="Nasir J" first="Jamal" last="Nasir">Jamal Nasir</name>
<affiliation wicri:level="1"><nlm:affiliation>Academic Neurology Unit, Section of Genetics and Informatics, Division of Genomic Medicine, University of Sheffield Medical School, Sheffield, United Kingdom. j.nasir@sheffield.ac.uk</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Academic Neurology Unit, Section of Genetics and Informatics, Division of Genomic Medicine, University of Sheffield Medical School, Sheffield</wicri:regionArea>
<wicri:noRegion>Sheffield</wicri:noRegion>
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<author><name sortKey="Frima, Nafsika" sort="Frima, Nafsika" uniqKey="Frima N" first="Nafsika" last="Frima">Nafsika Frima</name>
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<author><name sortKey="Pickard, Ben" sort="Pickard, Ben" uniqKey="Pickard B" first="Ben" last="Pickard">Ben Pickard</name>
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<author><name sortKey="Malloy, M Pat" sort="Malloy, M Pat" uniqKey="Malloy M" first="M Pat" last="Malloy">M Pat Malloy</name>
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<author><name sortKey="Zhan, Lingping" sort="Zhan, Lingping" uniqKey="Zhan L" first="Lingping" last="Zhan">Lingping Zhan</name>
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<author><name sortKey="Grunewald, Richard" sort="Grunewald, Richard" uniqKey="Grunewald R" first="Richard" last="Grünewald">Richard Grünewald</name>
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<term>Chromosome Deletion</term>
<term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 18</term>
<term>Chromosomes, Human, X</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>In Situ Hybridization, Fluorescence</term>
<term>Linkage Disequilibrium</term>
<term>Translocation, Genetic</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Chromosome Deletion</term>
<term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 18</term>
<term>Chromosomes, Human, X</term>
<term>Female</term>
<term>Humans</term>
<term>In Situ Hybridization, Fluorescence</term>
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<front><div type="abstract" xml:lang="en">Dystonia represents a genetically and clinically heterogeneous disorder, characterized by abnormal and sustained muscle contractions and rigid postures. At least 15 different loci (DYT1-DYT15) have been identified in dystonia. Adult-onset idiopathic focal dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp), is mostly associated with the DYT7 locus, which was originally mapped to chromosome 18p by genomewide linkage analysis in a large family showing autosomal dominant inheritance. We have identified a family in which the mother is affected with dystonia and the son shows signs of dystonia. Using fluorescent BAC probes spanning 18p, we were able to identify a deletion in these two individuals, spanning the entire short arm of 18p. This deletion is accompanied by a centric fusion involving chromosome 14. The 18p deleted region spans 15 megabases of DNA, with a number of interesting DYT7 candidate genes, including genes involved in G-protein-coupled signaling (GNAL), cell death (CIDEA), muscle development (MYOM1 and MRLM), mitochondrial activity (NDUFV2), and neuronal function (ADYCAP1, TGIF, DAP-1, and AFG3L2).</div>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Unbalanced whole arm translocation resulting in loss of 18p in dystonia.</ArticleTitle>
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<Abstract><AbstractText>Dystonia represents a genetically and clinically heterogeneous disorder, characterized by abnormal and sustained muscle contractions and rigid postures. At least 15 different loci (DYT1-DYT15) have been identified in dystonia. Adult-onset idiopathic focal dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp), is mostly associated with the DYT7 locus, which was originally mapped to chromosome 18p by genomewide linkage analysis in a large family showing autosomal dominant inheritance. We have identified a family in which the mother is affected with dystonia and the son shows signs of dystonia. Using fluorescent BAC probes spanning 18p, we were able to identify a deletion in these two individuals, spanning the entire short arm of 18p. This deletion is accompanied by a centric fusion involving chromosome 14. The 18p deleted region spans 15 megabases of DNA, with a number of interesting DYT7 candidate genes, including genes involved in G-protein-coupled signaling (GNAL), cell death (CIDEA), muscle development (MYOM1 and MRLM), mitochondrial activity (NDUFV2), and neuronal function (ADYCAP1, TGIF, DAP-1, and AFG3L2).</AbstractText>
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