Unbalanced whole arm translocation resulting in loss of 18p in dystonia.
Identifieur interne : 002D28 ( PubMed/Curation ); précédent : 002D27; suivant : 002D29Unbalanced 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.
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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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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></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16541453</PMID><DateCreated><Year>2006</Year><Month>06</Month><Day>13</Day></DateCreated><DateCompleted><Year>2006</Year><Month>11</Month><Day>14</Day></DateCompleted><DateRevised><Year>2006</Year><Month>12</Month><Day>13</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>6</Issue><PubDate><Year>2006</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Unbalanced whole arm translocation resulting in loss of 18p in dystonia.</ArticleTitle><Pagination><MedlinePgn>859-63</MedlinePgn></Pagination><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></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nasir</LastName><ForeName>Jamal</ForeName><Initials>J</Initials><AffiliationInfo><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</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frima</LastName><ForeName>Nafsika</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Pickard</LastName><ForeName>Ben</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Malloy</LastName><ForeName>M Pat</ForeName><Initials>MP</Initials></Author><Author ValidYN="Y"><LastName>Zhan</LastName><ForeName>Lingping</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Grünewald</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002872">Chromosome Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002883">Chromosomes, Human, Pair 14</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002887">Chromosomes, Human, Pair 18</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D041321">Chromosomes, Human, X</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017404">In Situ Hybridization, Fluorescence</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D015810">Linkage Disequilibrium</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D014178">Translocation, Genetic</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>3</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>11</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>3</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20846</ArticleId><ArticleId IdType="pubmed">16541453</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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