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<title>
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Entry
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- *118661 - VERSICAN; VCAN
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- OMIM
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<p>
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<span class="h4">*118661</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/118661">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000038427;t=ENST00000265077" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1462" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=118661" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000038427;t=ENST00000265077" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001126336,NM_001164097,NM_001164098,NM_004385" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004385" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=118661" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00340&isoform_id=00340_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/VCAN" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/37663,263314,387017,608515,833853,1008913,2506816,5730399,21361116,29791613,34364950,62088562,119616310,119616311,119616312,119616313,119616314,119616315,119616316,119616317,187607300,221041250,221042894,255918077,255918079,1044329585" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P13611" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1462" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000038427;t=ENST00000265077" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAN" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=VCAN" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1462" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/VCAN" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:1462" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1462" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr5&hgg_gene=ENST00000265077.8&hgg_start=83471744&hgg_end=83582302&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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|
<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2464" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/vcan" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118661[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=118661[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/VCAN/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000038427" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=VCAN" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=VCAN" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=VCAN" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=VCAN&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA162408788" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Animal Models</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:2464" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102889" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/VCAN#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:102889" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1462/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1462" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-011023-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
|
</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
|
</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1462" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=VCAN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
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|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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|
<strong>SNOMEDCT:</strong> 232064001<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
118661
|
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</span>
|
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</span>
|
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
VERSICAN; VCAN
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|
</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2<br />
|
|
CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN, CARTILAGE
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=VCAN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">VCAN</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/309?start=-3&limit=10&highlight=309">5q14.2-q14.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:83471744-83582302&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">5:83,471,744-83,582,302</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/309?start=-3&limit=10&highlight=309">
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<p>Large chondroitin sulfate proteoglycans, such as versican, were first identified in hyaline cartilage, where they specifically interact with hyaluronan and form large supramolecular complexes. Together with other matrix glycoproteins, they provide mechanical support and a fixed negative charge. Such molecules exist also in a variety of soft tissues where they may play additional physiologic roles (<a href="#9" class="mim-tip-reference" title="Kjellen, L., Lindahl, U. <strong>Proteoglycans: structures and interactions.</strong> Annu. Rev. Biochem. 60: 443-475, 1991. Note: Erratum: Annu. Rev. Biochem. 61: following viii, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1883201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1883201</a>] [<a href="https://doi.org/10.1146/annurev.bi.60.070191.002303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1883201">Kjellen and Lindahl, 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1883201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The versican gene encodes 4 extracellular matrix (ECM) isoforms that differ in the presence or length of a central glycosaminoglycan (GAG)-binding region. These proteins regulate cell adhesion, differentiation, and survival, in addition to cell proliferation and migration and ECM assembly (review by <a href="#18" class="mim-tip-reference" title="Wight, T. N. <strong>Versican: a versatile extracellular matrix proteoglycan in cell biology.</strong> Curr. Opin. Cell Biol. 14: 617-623, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12231358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12231358</a>] [<a href="https://doi.org/10.1016/s0955-0674(02)00375-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12231358">Wight (2002)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12231358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Zimmermann, D. R., Ruoslahti, E. <strong>Multiple domains of the large fibroblast proteoglycan, versican.</strong> EMBO J. 8: 2975-2981, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2583089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2583089</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1989.tb08447.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2583089">Zimmermann and Ruoslahti (1989)</a> cloned and sequenced the cDNA of the core protein of fibroblast chondroitin sulfate proteoglycan. They designated it versican in recognition of its versatile modular structure. Decorin (<a href="/entry/125255">125255</a>) and biglycan (<a href="/entry/301870">301870</a>) are 2 other soft tissue proteoglycans. The deduced 2,409-amino acid versican protein has a 20-residue N-terminal signal sequence, followed by a potential hyaluronic acid-binding domain and a long central region with several putative glycosaminoglycan (GAG) attachment sites. Near the C terminus, versican has 2 EGF (<a href="/entry/131530">131530</a>)-like repeats, a lectin (see <a href="/entry/606782">606782</a>)-like sequence, and a complement regulatory protein (see CFHR1, <a href="/entry/134371">134371</a>)-like domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2583089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Naso, M. F., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V. <strong>Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13.</strong> Genomics 29: 297-300, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530092</a>] [<a href="https://doi.org/10.1006/geno.1995.1251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530092">Naso et al. (1995)</a> reported that the mouse versican protein is 89% identical to human versican and is highly expressed in mouse embryos at days 13, 14, and 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening a U251G human glioma cell line cDNA library, followed by assembling overlapping genomic and cDNA clones, <a href="#3" class="mim-tip-reference" title="Dours-Zimmermann, M. T., Zimmermann, D. R. <strong>A novel glycosaminoglycan attachment domain identified in two alternative splice variants of human versican.</strong> J. Biol. Chem. 269: 32992-32998, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7806529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7806529</a>]" pmid="7806529">Dours-Zimmermann and Zimmermann (1994)</a> obtained full-length versican. The deduced 3,396-amino acid protein, which they called isoform V0, has a calculated molecular mass of 370 kD in the absence of the N-terminal signal peptide. It has 23 potential N-glycosylation sites, 39 potential O-glycosylation sites, and 17 to 23 putative sites for GAG modification. RT-PCR analysis of 6 human tissues, 2 cell lines, primary human skin fibroblasts, and keratinocytes suggested variable expression of 2 additional versican splice variants, V1 and V2, that differ in the length of the GAG attachment portion of the protein. Versican V1 and V2 include either the GAG-alpha or the GAG-beta domain, which provide attachment sites for about 5 to 8 or 12 to 15 GAG chains, respectively. In the V0 variant, both GAG-alpha and GAG-beta are present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7806529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Zako, M., Shinomura, T., Ujita, M., Ito, K., Kimata, K. <strong>Expression of PG-M(V3), an alternatively spliced form of PG-M without a chondroitin sulfate attachment region in mouse and human tissues.</strong> J. Biol. Chem. 270: 3914-3918, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7876137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7876137</a>] [<a href="https://doi.org/10.1074/jbc.270.8.3914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7876137">Zako et al. (1995)</a> demonstrated the existence of another splice variant, designated V3, which lacks a chondroitin sulfate attachment region, the most distinctive portion of a proteoglycan molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7876137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bode-Lesniewska, B., Dours-Zimmermann, M. T., Odermatt, B. F., Briner, J., Heitz, P. U., Zimmermann, D. R. <strong>Distribution of the large aggregating proteoglycan versican in adult human tissues.</strong> J. Histochem. Cytochem. 44: 303-312, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8601689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8601689</a>] [<a href="https://doi.org/10.1177/44.4.8601689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8601689">Bode-Lesniewska et al. (1996)</a> studied the distribution of versican by using affinity-purified polyclonal antibodies that recognize the core protein of the prominent versican splice variants V0 and V1. Versican was present in the loose connective tissues of various organs and was often associated with the elastic fiber network. It was localized in most smooth muscle tissues and in fibrous and elastic cartilage. Versican staining was noted in the central and peripheral nervous system, in the basal layer of the epidermis, and on the luminal surface of some glandular epithelia. In blood vessels, versican was present in all 3 wall layers of veins and elastic arteries. In muscular arteries the immunoreactivity was normally restricted to the tunica adventitia. However, it appeared in the media and the split elastica interna of atherosclerotically transformed vessel walls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8601689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Naso, M. F., Zimmermann, D. R., Iozzo, R. V. <strong>Characterization of the complete genomic structure of the human versican gene and functional analysis of its promoter.</strong> J. Biol. Chem. 269: 32999-33008, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7528742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7528742</a>]" pmid="7528742">Naso et al. (1994)</a> showed that the human versican gene contains 15 exons spanning more than 90 kb. One of these, exon 7, is used in an alternative splice variant. The authors sequenced the 5-prime promoter-containing region of the gene and found that it contained numerous binding sites for transactivators such as AP2 (<a href="/entry/107580">107580</a>) and Sp1 (<a href="/entry/189906">189906</a>). They used transient transfection studies to show that the promoter functioned well in both mesenchymal and epithelial cells. The authors used deletion studies to show that this 5-prime region (to approximately -630) contains both strong enhancer and strong negative regulatory elements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7528742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The distinctness of CSPG1 (AGC1; <a href="/entry/155760">155760</a>) and CSPG2 was uncertain until both genes had been mapped. Whereas CSPG1 is located on chromosome 15, <a href="#7" class="mim-tip-reference" title="Iozzo, R. V., Naso, M. F., Cannizzaro, L. A., Wasmuth, J. J., McPherson, J. D. <strong>Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14).</strong> Genomics 14: 845-851, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478664</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80103-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1478664">Iozzo et al. (1992)</a> demonstrated that the CSPG2 gene is located on chromosome 5. They used a combination of human/rodent somatic cell hybrids including a panel of hybrids containing partial deletions of chromosome 5 and narrowed the assignment to 5q12-q14, with the precise site likely to be 5q13.2, by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using interspecific backcross analysis, <a href="#14" class="mim-tip-reference" title="Naso, M. F., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V. <strong>Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13.</strong> Genomics 29: 297-300, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530092</a>] [<a href="https://doi.org/10.1006/geno.1995.1251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530092">Naso et al. (1995)</a> assigned the Cspg2 gene to mouse chromosome 13 in a region that is syntenic with 5q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Hirose, J., Kawashima, H., Yoshie, O., Tashiro, K., Miyasaka, M. <strong>Versican interacts with chemokines and modulates cellular responses.</strong> J. Biol. Chem. 276: 5228-5234, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11083865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11083865</a>] [<a href="https://doi.org/10.1074/jbc.M007542200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11083865">Hirose et al. (2001)</a> stated that versican derived from the human ACHN renal adenocarcinoma cell line interacts via its chondroitin sulfate side chains with the leukocyte adhesion molecules L-selectin (SELL; <a href="/entry/153240">153240</a>) and CD44 (<a href="/entry/107269">107269</a>). Using a panel of 18 different cytokines, they found that human versican also bound a specific set of cytokines that attract mononuclear leukocytes, including SLC (CCL21; <a href="/entry/602737">602737</a>) and MCP1 (CCL2; <a href="/entry/158105">158105</a>). Versican downregulated SLC-induced integrin alpha-4 (ITGA4; <a href="/entry/192975">192975</a>)-beta-7 (ITGB7; <a href="/entry/147559">147559</a>)-mediated adhesion in mouse T cells. Versican also downregulated intracellular calcium mobilization elicited by SLC and SDF1-beta (CXCL12; <a href="/entry/600835">600835</a>) in mouse B and human T cells. Chondroitinase treatment or flooding with soluble chondroitin sulfate abrogated cytokine binding and cellular responses, suggesting that the GAG side chains of versican are required to bind cytokines. <a href="#6" class="mim-tip-reference" title="Hirose, J., Kawashima, H., Yoshie, O., Tashiro, K., Miyasaka, M. <strong>Versican interacts with chemokines and modulates cellular responses.</strong> J. Biol. Chem. 276: 5228-5234, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11083865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11083865</a>] [<a href="https://doi.org/10.1074/jbc.M007542200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11083865">Hirose et al. (2001)</a> concluded that versican is a negative regulator of chemokine function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11083865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To determine whether TP53 (<a href="/entry/191170">191170</a>) gene dosage affects transcriptional regulation of target genes, <a href="#19" class="mim-tip-reference" title="Yoon, H., Liyanarachchi, S., Wright, F. A., Davuluri, R., Lockman, J. C., de la Chapelle, A., Pellegata, N. S. <strong>Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53.</strong> Proc. Nat. Acad. Sci. 99: 15632-15637, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12438652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12438652</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12438652[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.242597299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12438652">Yoon et al. (2002)</a> performed oligonucleotide array gene expression analysis by using human cells with wildtype p53 or with 1 or both TP53 alleles disrupted by homologous recombination. They identified 35 genes, including CSPG2, whose expression was significantly correlated to the dosage of TP53. Motif search analysis revealed that CSPG2 contains a p53 consensus binding site in its first intron. In vitro and in vivo assays demonstrated that CSPG2 is directly transactivated by p53. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12438652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dutt, S., Kleber, M., Matasci, M., Sommer, L., Zimmermann, D. R. <strong>Versican V0 and V1 guide migratory neural crest cells.</strong> J. Biol. Chem. 281: 12123-12131, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16510447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16510447</a>] [<a href="https://doi.org/10.1074/jbc.M510834200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16510447">Dutt et al. (2006)</a> showed that a mixture of copurified human versican V0 and V1, or calf aorta versican V1 alone, inhibited migration of early rat neural crest stem cells (eNCSCs) on a substrate coated with human fibronectin (FN1; <a href="/entry/135600">135600</a>). When explants were cultured on alternating stripes of fibronectin and fibronectin plus versican, eNCSCs migrated only along versican-free surfaces. Contact with versican substrates did not influence eNCSC differentiation. In contrast, mouse embryonic fibroblasts showed no substrate preference. Removal of the GAG moiety from versican V0/V1 did not alter eNCSC substrate preference, suggesting that the versican antimigratory capacity resided in its core glycoprotein. Versican appeared to interfere with the eNCSC adhesion to the fibronectin-coated substrate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16510447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Alternative splicing of MAGP1 (MFAP2; <a href="/entry/156790">156790</a>) produces an extracellular protein (MAGP1A), which associates with microfibrils, and an intracellular protein (MAGP1B). Using expression arrays and RT-PCR analysis, <a href="#16" class="mim-tip-reference" title="Segade, F., Suganuma, N., Mychaleckyj, J. C., Mecham, R. P. <strong>The intracellular form of human MAGP1 elicits a complex and specific transcriptional response.</strong> Int. J. Biochem. Cell Biol. 39: 2303-2313, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17692555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17692555</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17692555[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.biocel.2007.06.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17692555">Segade et al. (2007)</a> found that stable expression of MAGP1B in human SAOS-2 osteosarcoma cells caused significant upregulation of all 4 versican splice variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17692555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To understand how cancer cells infect the inflammatory microenvironment, <a href="#8" class="mim-tip-reference" title="Kim, S., Takahashi, H., Lin, W.-W., Descargues, P., Grivennikov, S., Kim, Y., Luo, J.-L., Karin, M. <strong>Carcinoma-produced factors activate myeloid cells through TLR2 to stimulate metastasis.</strong> Nature 457: 102-106, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19122641[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122641">Kim et al. (2009)</a> conducted a biochemical screen for macrophage-activating factors secreted by metastatic carcinomas. They demonstrated that, among the cell lines screened, Lewis lung carcinoma (LLC) were the most potent macrophage activators leading to production of interleukin-6 (IL6; <a href="/entry/147620">147620</a>) and tumor necrosis factor-alpha (TNFA; <a href="/entry/191160">191160</a>) through activation of the Toll-like receptor family members TLR2 (<a href="/entry/603028">603028</a>) and TLR6 (<a href="/entry/605403">605403</a>). Both TNF-alpha and TLR2 were found to be required for LLC metastasis. Biochemical purification of LLC-conditioned medium led to identification of the extracellular matrix proteoglycan versican, which is upregulated in many human tumors including lung cancer, as a macrophage activator that acts through TLR2 and its coreceptors TLR6 and CD14 (<a href="/entry/158120">158120</a>). By activating TLR2:TLR6 complexes and inducing TNF-alpha secretion by myeloid cells, versican strongly enhances LLC metastatic growth. <a href="#8" class="mim-tip-reference" title="Kim, S., Takahashi, H., Lin, W.-W., Descargues, P., Grivennikov, S., Kim, Y., Luo, J.-L., Karin, M. <strong>Carcinoma-produced factors activate myeloid cells through TLR2 to stimulate metastasis.</strong> Nature 457: 102-106, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122641</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19122641[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122641">Kim et al. (2009)</a> concluded that their results explained how advanced cancer cells usurp components of the host innate immune system, including bone marrow-derived myeloid progenitors, to generate an inflammatory microenvironment hospitable for metastatic growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Wagner vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>) is an autosomal dominant vitreoretinopathy. <a href="#12" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> demonstrated a heterozygous A-to-G transition at the second base of the 3-prime acceptor splice site of intron 7 of the CSPG2 gene that cosegregated with the disease in a Japanese family (<a href="#0001">118661.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the large 5-generation Swiss family with vitreoretinopathy originally described by <a href="#17" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a>, <a href="#10" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W. <strong>Identification of the genetic defect in the original Wagner syndrome family.</strong> Molec. Vis. 12: 350-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16636652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16636652</a>]" pmid="16636652">Kloeckener-Gruissem et al. (2006)</a> identified a heterozygous splice site mutation in intron 8 of the VCAN gene (<a href="#0002">118661.0002</a>) that segregated fully with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16636652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 7 Dutch families with vitreoretinopathy, <a href="#13" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> identified heterozygosity for 3 splice site mutations in intron 7 of the VCAN gene (<a href="#0003">118661.0003</a>-<a href="#0005">118661.0005</a>). Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 38-fold and more than 12-fold, respectively) in all patients with intron 7 nucleotide changes, as well as in a Chinese family with vitreoretinopathy in which a causal variant was not identified. <a href="#13" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> suggested that Wagner vitreoretinopathy is caused by an imbalance of versican isoforms, mediated by intronic variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-generation French family with a severe vitreoretinal disorder mapping to 5q13-q14, <a href="#2" class="mim-tip-reference" title="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> identified a heterozygous splice site mutation in intron 7 of the VCAN gene (<a href="#0006">118661.0006</a>) that segregated with disease and was not found 100 French controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a British family and a French family with Wagner vitreoretinopathy, <a href="#11" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W. <strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong> Europ. J. Hum. Genet. 21: 352-356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739342">Kloeckener-Gruissem et al. (2013)</a> sequenced the VCAN gene and identified 2 heterozygous splice site mutations, in intron 8 and intron 7 of the VCAN gene, respectively, that segregated with disease in each family (<a href="#0007">118661.0007</a> and <a href="#0008">118661.0008</a>). The levels of splice variants V2 and V3 were significantly increased in all patient fibroblast and blood samples from these families as well as samples from the Swiss family with vitreoretinopathy originally described by <a href="#17" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a>, although the magnitude of the increase varied between tissues and mutations. There were no statistically significant differences in V0 and V1 levels in fibroblasts or blood between patients and controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22739342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=118661[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356555;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019046 OR RCV001074432 OR RCV001267039 OR RCV001851934" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019046, RCV001074432, RCV001267039, RCV001851934" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019046...</a>
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<p>In a Japanese family with Wagner syndrome (WGVRP; <a href="/entry/143200">143200</a>) in which members of 4 generations, to a total of 13 with 11 living at the time of study, were affected, <a href="#12" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> described a heterozygous splice acceptor site mutation in the CSPG2 gene: 4004-2 A-G. Results of RT-PCR analysis indicated that the mutation activated a cryptic splice site located 39 bp downstream from the authentic 3-prime splice acceptor site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356553 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356553;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020594 OR RCV001222448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020594, RCV001222448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020594...</a>
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<p>In a large 5-generation Swiss family with vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), originally described by <a href="#17" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a>, <a href="#10" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W. <strong>Identification of the genetic defect in the original Wagner syndrome family.</strong> Molec. Vis. 12: 350-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16636652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16636652</a>]" pmid="16636652">Kloeckener-Gruissem et al. (2006)</a> identified a heterozygous transition (9265+1G-A) at the highly conserved splice donor sequence in intron 8 of the VCAN gene, which segregated with the phenotype in 21 affected and 26 unaffected family members and was not found in 104 control alleles. RT-PCR analysis using patient RNA from venous blood revealed 2 aberrant CSPG2 transcripts, 1 lacking the entire exon 8 and the other missing only the last 21 bp of exon 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16636652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W. <strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong> Europ. J. Hum. Genet. 21: 352-356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739342">Kloeckener-Gruissem et al. (2013)</a> analyzed fibroblasts from a member of the Swiss family with vitreoretinopathy originally described by <a href="#17" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a> and found a 700-fold and a 150-fold increase in versican isoforms V2 and V3, respectively, compared to controls. In patient blood samples, amounts of V2 and V3 were increased 48-fold and 32-fold, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22739342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356556;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020593 OR RCV001723583" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020593, RCV001723583" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020593...</a>
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<p>In all affected individuals from 5 Dutch families with vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), including 4 families diagnosed with Wagner syndrome and 1 with erosive vitreoretinopathy, <a href="#13" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> identified heterozygosity for a transition in intron 7 (4004-5T-C) of the VCAN gene. The mutation was not found in unaffected individuals from any of the 5 families, or in 250 Dutch controls. The 5 families shared a common haplotype on chromosome 5q14, suggesting a founder mutation. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 38-fold and more than 12-fold, respectively) compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356556;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020592</a>
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<p>In affected members of a Dutch family with Wagner vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), <a href="#13" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> identified heterozygosity for a transition in intron 7 (4004-5T-A) of the VCAN gene. The mutation was not found in unaffected members of the family, or in 250 Dutch controls. RT-PCR analysis of mutant versican transcripts showed activation of a cryptic splice site resulting in a 39-nucleotide in-frame deletion of exon 8 in splice variant V0. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 45-fold and more than 13-fold, respectively) compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356554;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020591 OR RCV004556050" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020591, RCV004556050" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020591...</a>
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<p>In affected members of a Dutch family with Wagner vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), <a href="#13" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> identified heterozygosity for a transition in intron 7 (4004-1G-A) of the VCAN gene. The mutation was not found in unaffected members of the family, or in 250 Dutch controls. RT-PCR analysis of mutant versican transcripts showed activation of a cryptic splice site resulting in a 39-nucleotide in-frame deletion of exon 8 in splice variant V0. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 137-fold and more than 22-fold, respectively) compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356555;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034807 OR RCV002513342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034807, RCV002513342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034807...</a>
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<p>In 10 affected members of a 4-generation French family with severe vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), <a href="#2" class="mim-tip-reference" title="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> identified heterozygosity for a transversion within the highly conserved acceptor splice site of intron 7 (4004-2A-T) of the VCAN gene. The mutation was not found in 6 unaffected family members or in 100 French controls. Patients in this kindred had a highly variable phenotype, including exudative vascular abnormalities, and exhibited severe visual impairment. RT-PCR analysis of patient lymphoblastoid cell RNA indicated that the mutation activates a cryptic acceptor splice site within exon 8, located 39 bp downstream from the authentic 3-prime splice acceptor site. Direct sequencing of a shortened RNA fragment showed loss of the first 39 bp of exon 8, predicted to cause in-frame deletion of 13 amino acid residues from the beginning of the GAG-beta domain of mature versican. RT-PCR also indicated aberrant expression of a versican mRNA lacking the entire exon 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 WAGNER VITREORETINOPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515437 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515437;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397515437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034808" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034808" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034808</a>
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<p>In 3 affected members of a 4-generation British family with Wagner vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), previously studied by <a href="#5" class="mim-tip-reference" title="Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S. <strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong> J. Med. Genet. 27: 91-93, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319589</a>] [<a href="https://doi.org/10.1136/jmg.27.2.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2319589">Fryer et al. (1990)</a>, <a href="#11" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W. <strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong> Europ. J. Hum. Genet. 21: 352-356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739342">Kloeckener-Gruissem et al. (2013)</a> identified heterozygosity for a transition within the conserved splice donor site of intron 8 (9265+2T-A) of the VCAN gene. The mutation was not found in 300 control alleles. In patient blood samples, there was a 230-fold and a 143-fold increase in versican isoforms V2 and V3, respectively, compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2319589+22739342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 WAGNER VITREORETINOPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356554;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80356554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80356554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034809</a>
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<p>In 19 affected members of a 4-generation French family with Wagner vitreoretinopathy (WGVRP; <a href="/entry/143200">143200</a>), originally reported by <a href="#21" class="mim-tip-reference" title="Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Godet, J., Plauchu, H. <strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong> Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10333105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10333105</a>] [<a href="https://doi.org/10.1007/s004170050249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10333105">Zech et al. (1999)</a>, <a href="#11" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W. <strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong> Europ. J. Hum. Genet. 21: 352-356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739342">Kloeckener-Gruissem et al. (2013)</a> identified heterozygosity for a transversion within the conserved splice acceptor site of intron 7 (4004-1G-C) of the VCAN gene. The mutation was not found in 19 unaffected family members or in 300 control alleles. In patient fibroblasts, there was an 80-fold and a 150-fold increase in versican isoforms V2 and V3, respectively, compared to controls, whereas in patient blood samples, amounts of V2 and V3 increased 64-fold and 6-fold, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22739342+10333105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Bode-Lesniewska1996" class="mim-anchor"></a>
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Bode-Lesniewska, B., Dours-Zimmermann, M. T., Odermatt, B. F., Briner, J., Heitz, P. U., Zimmermann, D. R.
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<strong>Distribution of the large aggregating proteoglycan versican in adult human tissues.</strong>
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J. Histochem. Cytochem. 44: 303-312, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8601689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8601689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8601689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/44.4.8601689" target="_blank">Full Text</a>]
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Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S.
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<strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong>
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Molec. Vis. 17: 1669-1678, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dours-Zimmermann, M. T., Zimmermann, D. R.
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<strong>A novel glycosaminoglycan attachment domain identified in two alternative splice variants of human versican.</strong>
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J. Biol. Chem. 269: 32992-32998, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7806529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7806529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7806529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dutt, S., Kleber, M., Matasci, M., Sommer, L., Zimmermann, D. R.
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<strong>Versican V0 and V1 guide migratory neural crest cells.</strong>
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J. Biol. Chem. 281: 12123-12131, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16510447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16510447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16510447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S.
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<strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong>
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J. Med. Genet. 27: 91-93, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2319589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hirose, J., Kawashima, H., Yoshie, O., Tashiro, K., Miyasaka, M.
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<strong>Versican interacts with chemokines and modulates cellular responses.</strong>
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J. Biol. Chem. 276: 5228-5234, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11083865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11083865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11083865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M007542200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature07623" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1146/annurev.bi.60.070191.002303" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.242597299" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.270.8.3914" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1989.tb08447.x" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/8/2013
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Ada Hamosh - updated : 1/27/2009<br>Victor A. McKusick - updated : 9/29/2006<br>Victor A. McKusick - updated : 3/26/2003<br>Carol A. Bocchini - updated : 2/13/2001<br>Alan F. Scott - updated : 3/27/1996
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/13/1991
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 09/25/2022
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/10/2017<br>alopez : 05/09/2017<br>carol : 08/04/2016<br>joanna : 07/01/2016<br>mgross : 4/3/2014<br>mcolton : 4/2/2014<br>carol : 4/8/2013<br>terry : 8/31/2012<br>terry : 11/17/2010<br>carol : 7/16/2010<br>alopez : 1/29/2009<br>terry : 1/27/2009<br>alopez : 10/16/2006<br>terry : 9/29/2006<br>carol : 4/2/2003<br>tkritzer : 3/28/2003<br>terry : 3/26/2003<br>terry : 3/26/2003<br>mcapotos : 2/13/2001<br>carol : 2/13/2001<br>carol : 2/12/2001<br>alopez : 2/15/2000<br>terry : 4/17/1996<br>mark : 3/27/1996<br>mark : 10/3/1995<br>warfield : 3/21/1994<br>carol : 10/21/1993<br>carol : 4/16/1993<br>carol : 1/14/1993<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>*</strong> 118661
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<h3>
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VERSICAN; VCAN
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2<br />
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CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN, CARTILAGE
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: VCAN</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 232064001;
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<strong>
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<em>
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Cytogenetic location: 5q14.2-q14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:83,471,744-83,582,302 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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5q14.2-q14.3
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<span class="mim-font">
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Wagner syndrome 1
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<span class="mim-font">
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143200
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Large chondroitin sulfate proteoglycans, such as versican, were first identified in hyaline cartilage, where they specifically interact with hyaluronan and form large supramolecular complexes. Together with other matrix glycoproteins, they provide mechanical support and a fixed negative charge. Such molecules exist also in a variety of soft tissues where they may play additional physiologic roles (Kjellen and Lindahl, 1991). </p><p>The versican gene encodes 4 extracellular matrix (ECM) isoforms that differ in the presence or length of a central glycosaminoglycan (GAG)-binding region. These proteins regulate cell adhesion, differentiation, and survival, in addition to cell proliferation and migration and ECM assembly (review by Wight (2002)). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<p>Zimmermann and Ruoslahti (1989) cloned and sequenced the cDNA of the core protein of fibroblast chondroitin sulfate proteoglycan. They designated it versican in recognition of its versatile modular structure. Decorin (125255) and biglycan (301870) are 2 other soft tissue proteoglycans. The deduced 2,409-amino acid versican protein has a 20-residue N-terminal signal sequence, followed by a potential hyaluronic acid-binding domain and a long central region with several putative glycosaminoglycan (GAG) attachment sites. Near the C terminus, versican has 2 EGF (131530)-like repeats, a lectin (see 606782)-like sequence, and a complement regulatory protein (see CFHR1, 134371)-like domain. </p><p>Naso et al. (1995) reported that the mouse versican protein is 89% identical to human versican and is highly expressed in mouse embryos at days 13, 14, and 18. </p><p>By screening a U251G human glioma cell line cDNA library, followed by assembling overlapping genomic and cDNA clones, Dours-Zimmermann and Zimmermann (1994) obtained full-length versican. The deduced 3,396-amino acid protein, which they called isoform V0, has a calculated molecular mass of 370 kD in the absence of the N-terminal signal peptide. It has 23 potential N-glycosylation sites, 39 potential O-glycosylation sites, and 17 to 23 putative sites for GAG modification. RT-PCR analysis of 6 human tissues, 2 cell lines, primary human skin fibroblasts, and keratinocytes suggested variable expression of 2 additional versican splice variants, V1 and V2, that differ in the length of the GAG attachment portion of the protein. Versican V1 and V2 include either the GAG-alpha or the GAG-beta domain, which provide attachment sites for about 5 to 8 or 12 to 15 GAG chains, respectively. In the V0 variant, both GAG-alpha and GAG-beta are present. </p><p>Zako et al. (1995) demonstrated the existence of another splice variant, designated V3, which lacks a chondroitin sulfate attachment region, the most distinctive portion of a proteoglycan molecule. </p><p>Bode-Lesniewska et al. (1996) studied the distribution of versican by using affinity-purified polyclonal antibodies that recognize the core protein of the prominent versican splice variants V0 and V1. Versican was present in the loose connective tissues of various organs and was often associated with the elastic fiber network. It was localized in most smooth muscle tissues and in fibrous and elastic cartilage. Versican staining was noted in the central and peripheral nervous system, in the basal layer of the epidermis, and on the luminal surface of some glandular epithelia. In blood vessels, versican was present in all 3 wall layers of veins and elastic arteries. In muscular arteries the immunoreactivity was normally restricted to the tunica adventitia. However, it appeared in the media and the split elastica interna of atherosclerotically transformed vessel walls. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Naso et al. (1994) showed that the human versican gene contains 15 exons spanning more than 90 kb. One of these, exon 7, is used in an alternative splice variant. The authors sequenced the 5-prime promoter-containing region of the gene and found that it contained numerous binding sites for transactivators such as AP2 (107580) and Sp1 (189906). They used transient transfection studies to show that the promoter functioned well in both mesenchymal and epithelial cells. The authors used deletion studies to show that this 5-prime region (to approximately -630) contains both strong enhancer and strong negative regulatory elements. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The distinctness of CSPG1 (AGC1; 155760) and CSPG2 was uncertain until both genes had been mapped. Whereas CSPG1 is located on chromosome 15, Iozzo et al. (1992) demonstrated that the CSPG2 gene is located on chromosome 5. They used a combination of human/rodent somatic cell hybrids including a panel of hybrids containing partial deletions of chromosome 5 and narrowed the assignment to 5q12-q14, with the precise site likely to be 5q13.2, by in situ hybridization. </p><p>Using interspecific backcross analysis, Naso et al. (1995) assigned the Cspg2 gene to mouse chromosome 13 in a region that is syntenic with 5q. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hirose et al. (2001) stated that versican derived from the human ACHN renal adenocarcinoma cell line interacts via its chondroitin sulfate side chains with the leukocyte adhesion molecules L-selectin (SELL; 153240) and CD44 (107269). Using a panel of 18 different cytokines, they found that human versican also bound a specific set of cytokines that attract mononuclear leukocytes, including SLC (CCL21; 602737) and MCP1 (CCL2; 158105). Versican downregulated SLC-induced integrin alpha-4 (ITGA4; 192975)-beta-7 (ITGB7; 147559)-mediated adhesion in mouse T cells. Versican also downregulated intracellular calcium mobilization elicited by SLC and SDF1-beta (CXCL12; 600835) in mouse B and human T cells. Chondroitinase treatment or flooding with soluble chondroitin sulfate abrogated cytokine binding and cellular responses, suggesting that the GAG side chains of versican are required to bind cytokines. Hirose et al. (2001) concluded that versican is a negative regulator of chemokine function. </p><p>To determine whether TP53 (191170) gene dosage affects transcriptional regulation of target genes, Yoon et al. (2002) performed oligonucleotide array gene expression analysis by using human cells with wildtype p53 or with 1 or both TP53 alleles disrupted by homologous recombination. They identified 35 genes, including CSPG2, whose expression was significantly correlated to the dosage of TP53. Motif search analysis revealed that CSPG2 contains a p53 consensus binding site in its first intron. In vitro and in vivo assays demonstrated that CSPG2 is directly transactivated by p53. </p><p>Dutt et al. (2006) showed that a mixture of copurified human versican V0 and V1, or calf aorta versican V1 alone, inhibited migration of early rat neural crest stem cells (eNCSCs) on a substrate coated with human fibronectin (FN1; 135600). When explants were cultured on alternating stripes of fibronectin and fibronectin plus versican, eNCSCs migrated only along versican-free surfaces. Contact with versican substrates did not influence eNCSC differentiation. In contrast, mouse embryonic fibroblasts showed no substrate preference. Removal of the GAG moiety from versican V0/V1 did not alter eNCSC substrate preference, suggesting that the versican antimigratory capacity resided in its core glycoprotein. Versican appeared to interfere with the eNCSC adhesion to the fibronectin-coated substrate. </p><p>Alternative splicing of MAGP1 (MFAP2; 156790) produces an extracellular protein (MAGP1A), which associates with microfibrils, and an intracellular protein (MAGP1B). Using expression arrays and RT-PCR analysis, Segade et al. (2007) found that stable expression of MAGP1B in human SAOS-2 osteosarcoma cells caused significant upregulation of all 4 versican splice variants. </p><p>To understand how cancer cells infect the inflammatory microenvironment, Kim et al. (2009) conducted a biochemical screen for macrophage-activating factors secreted by metastatic carcinomas. They demonstrated that, among the cell lines screened, Lewis lung carcinoma (LLC) were the most potent macrophage activators leading to production of interleukin-6 (IL6; 147620) and tumor necrosis factor-alpha (TNFA; 191160) through activation of the Toll-like receptor family members TLR2 (603028) and TLR6 (605403). Both TNF-alpha and TLR2 were found to be required for LLC metastasis. Biochemical purification of LLC-conditioned medium led to identification of the extracellular matrix proteoglycan versican, which is upregulated in many human tumors including lung cancer, as a macrophage activator that acts through TLR2 and its coreceptors TLR6 and CD14 (158120). By activating TLR2:TLR6 complexes and inducing TNF-alpha secretion by myeloid cells, versican strongly enhances LLC metastatic growth. Kim et al. (2009) concluded that their results explained how advanced cancer cells usurp components of the host innate immune system, including bone marrow-derived myeloid progenitors, to generate an inflammatory microenvironment hospitable for metastatic growth. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Wagner vitreoretinopathy (WGVRP; 143200) is an autosomal dominant vitreoretinopathy. Miyamoto et al. (2005) demonstrated a heterozygous A-to-G transition at the second base of the 3-prime acceptor splice site of intron 7 of the CSPG2 gene that cosegregated with the disease in a Japanese family (118661.0001). </p><p>In the large 5-generation Swiss family with vitreoretinopathy originally described by Wagner (1938), Kloeckener-Gruissem et al. (2006) identified a heterozygous splice site mutation in intron 8 of the VCAN gene (118661.0002) that segregated fully with disease. </p><p>In affected members of 7 Dutch families with vitreoretinopathy, Mukhopadhyay et al. (2006) identified heterozygosity for 3 splice site mutations in intron 7 of the VCAN gene (118661.0003-118661.0005). Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 38-fold and more than 12-fold, respectively) in all patients with intron 7 nucleotide changes, as well as in a Chinese family with vitreoretinopathy in which a causal variant was not identified. Mukhopadhyay et al. (2006) suggested that Wagner vitreoretinopathy is caused by an imbalance of versican isoforms, mediated by intronic variants. </p><p>In a 4-generation French family with a severe vitreoretinal disorder mapping to 5q13-q14, Brezin et al. (2011) identified a heterozygous splice site mutation in intron 7 of the VCAN gene (118661.0006) that segregated with disease and was not found 100 French controls. </p><p>In a British family and a French family with Wagner vitreoretinopathy, Kloeckener-Gruissem et al. (2013) sequenced the VCAN gene and identified 2 heterozygous splice site mutations, in intron 8 and intron 7 of the VCAN gene, respectively, that segregated with disease in each family (118661.0007 and 118661.0008). The levels of splice variants V2 and V3 were significantly increased in all patient fibroblast and blood samples from these families as well as samples from the Swiss family with vitreoretinopathy originally described by Wagner (1938), although the magnitude of the increase varied between tissues and mutations. There were no statistically significant differences in V0 and V1 levels in fibroblasts or blood between patients and controls. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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VCAN, IVS7AS, A-G, -2
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<br />
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SNP: rs80356555,
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ClinVar: RCV000019046, RCV001074432, RCV001267039, RCV001851934
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese family with Wagner syndrome (WGVRP; 143200) in which members of 4 generations, to a total of 13 with 11 living at the time of study, were affected, Miyamoto et al. (2005) described a heterozygous splice acceptor site mutation in the CSPG2 gene: 4004-2 A-G. Results of RT-PCR analysis indicated that the mutation activated a cryptic splice site located 39 bp downstream from the authentic 3-prime splice acceptor site. </p>
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</span>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VCAN, IVS8DS, G-A, +1
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<br />
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SNP: rs80356553,
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ClinVar: RCV000020594, RCV001222448
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large 5-generation Swiss family with vitreoretinopathy (WGVRP; 143200), originally described by Wagner (1938), Kloeckener-Gruissem et al. (2006) identified a heterozygous transition (9265+1G-A) at the highly conserved splice donor sequence in intron 8 of the VCAN gene, which segregated with the phenotype in 21 affected and 26 unaffected family members and was not found in 104 control alleles. RT-PCR analysis using patient RNA from venous blood revealed 2 aberrant CSPG2 transcripts, 1 lacking the entire exon 8 and the other missing only the last 21 bp of exon 8. </p><p>Kloeckener-Gruissem et al. (2013) analyzed fibroblasts from a member of the Swiss family with vitreoretinopathy originally described by Wagner (1938) and found a 700-fold and a 150-fold increase in versican isoforms V2 and V3, respectively, compared to controls. In patient blood samples, amounts of V2 and V3 were increased 48-fold and 32-fold, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VCAN, IVS7AS, T-C, -5
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<br />
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SNP: rs80356556,
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ClinVar: RCV000020593, RCV001723583
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In all affected individuals from 5 Dutch families with vitreoretinopathy (WGVRP; 143200), including 4 families diagnosed with Wagner syndrome and 1 with erosive vitreoretinopathy, Mukhopadhyay et al. (2006) identified heterozygosity for a transition in intron 7 (4004-5T-C) of the VCAN gene. The mutation was not found in unaffected individuals from any of the 5 families, or in 250 Dutch controls. The 5 families shared a common haplotype on chromosome 5q14, suggesting a founder mutation. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 38-fold and more than 12-fold, respectively) compared to controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VCAN, IVS7AS, T-A, -5
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<br />
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SNP: rs80356556,
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ClinVar: RCV000020592
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a Dutch family with Wagner vitreoretinopathy (WGVRP; 143200), Mukhopadhyay et al. (2006) identified heterozygosity for a transition in intron 7 (4004-5T-A) of the VCAN gene. The mutation was not found in unaffected members of the family, or in 250 Dutch controls. RT-PCR analysis of mutant versican transcripts showed activation of a cryptic splice site resulting in a 39-nucleotide in-frame deletion of exon 8 in splice variant V0. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 45-fold and more than 13-fold, respectively) compared to controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VCAN, IVS7AS, G-A, -1
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<br />
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SNP: rs80356554,
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ClinVar: RCV000020591, RCV004556050
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of a Dutch family with Wagner vitreoretinopathy (WGVRP; 143200), Mukhopadhyay et al. (2006) identified heterozygosity for a transition in intron 7 (4004-1G-A) of the VCAN gene. The mutation was not found in unaffected members of the family, or in 250 Dutch controls. RT-PCR analysis of mutant versican transcripts showed activation of a cryptic splice site resulting in a 39-nucleotide in-frame deletion of exon 8 in splice variant V0. Quantitative PCR using RNA from patient blood samples revealed a highly significant (p less than 0.0001) and consistent increase in the V2 and V3 splice variants (more than 137-fold and more than 22-fold, respectively) compared to controls. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 WAGNER VITREORETINOPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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VCAN, IVS7AS, A-T, -2
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<br />
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|
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SNP: rs80356555,
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|
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ClinVar: RCV000034807, RCV002513342
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 10 affected members of a 4-generation French family with severe vitreoretinopathy (WGVRP; 143200), Brezin et al. (2011) identified heterozygosity for a transversion within the highly conserved acceptor splice site of intron 7 (4004-2A-T) of the VCAN gene. The mutation was not found in 6 unaffected family members or in 100 French controls. Patients in this kindred had a highly variable phenotype, including exudative vascular abnormalities, and exhibited severe visual impairment. RT-PCR analysis of patient lymphoblastoid cell RNA indicated that the mutation activates a cryptic acceptor splice site within exon 8, located 39 bp downstream from the authentic 3-prime splice acceptor site. Direct sequencing of a shortened RNA fragment showed loss of the first 39 bp of exon 8, predicted to cause in-frame deletion of 13 amino acid residues from the beginning of the GAG-beta domain of mature versican. RT-PCR also indicated aberrant expression of a versican mRNA lacking the entire exon 8. </p>
|
|
</span>
|
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</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 WAGNER VITREORETINOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
VCAN, IVS7DS, T-A, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515437,
|
|
|
|
|
|
|
|
ClinVar: RCV000034808
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a 4-generation British family with Wagner vitreoretinopathy (WGVRP; 143200), previously studied by Fryer et al. (1990), Kloeckener-Gruissem et al. (2013) identified heterozygosity for a transition within the conserved splice donor site of intron 8 (9265+2T-A) of the VCAN gene. The mutation was not found in 300 control alleles. In patient blood samples, there was a 230-fold and a 143-fold increase in versican isoforms V2 and V3, respectively, compared to controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 WAGNER VITREORETINOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
VCAN, IVS7AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80356554,
|
|
|
|
|
|
|
|
ClinVar: RCV000034809
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 19 affected members of a 4-generation French family with Wagner vitreoretinopathy (WGVRP; 143200), originally reported by Zech et al. (1999), Kloeckener-Gruissem et al. (2013) identified heterozygosity for a transversion within the conserved splice acceptor site of intron 7 (4004-1G-C) of the VCAN gene. The mutation was not found in 19 unaffected family members or in 300 control alleles. In patient fibroblasts, there was an 80-fold and a 150-fold increase in versican isoforms V2 and V3, respectively, compared to controls, whereas in patient blood samples, amounts of V2 and V3 increased 64-fold and 6-fold, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
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<li>
|
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<p class="mim-text-font">
|
|
Bode-Lesniewska, B., Dours-Zimmermann, M. T., Odermatt, B. F., Briner, J., Heitz, P. U., Zimmermann, D. R.
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<strong>Distribution of the large aggregating proteoglycan versican in adult human tissues.</strong>
|
|
J. Histochem. Cytochem. 44: 303-312, 1996.
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[PubMed: 8601689]
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[Full Text: https://doi.org/10.1177/44.4.8601689]
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</p>
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<li>
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<p class="mim-text-font">
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Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S.
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<strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong>
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Molec. Vis. 17: 1669-1678, 2011.
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[PubMed: 21738396]
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<p class="mim-text-font">
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Dours-Zimmermann, M. T., Zimmermann, D. R.
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<strong>A novel glycosaminoglycan attachment domain identified in two alternative splice variants of human versican.</strong>
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J. Biol. Chem. 269: 32992-32998, 1994.
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[PubMed: 7806529]
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<p class="mim-text-font">
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Dutt, S., Kleber, M., Matasci, M., Sommer, L., Zimmermann, D. R.
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|
<strong>Versican V0 and V1 guide migratory neural crest cells.</strong>
|
|
J. Biol. Chem. 281: 12123-12131, 2006.
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[PubMed: 16510447]
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[Full Text: https://doi.org/10.1074/jbc.M510834200]
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<p class="mim-text-font">
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Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S.
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<strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong>
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J. Med. Genet. 27: 91-93, 1990.
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[PubMed: 2319589]
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[Full Text: https://doi.org/10.1136/jmg.27.2.91]
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<p class="mim-text-font">
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Hirose, J., Kawashima, H., Yoshie, O., Tashiro, K., Miyasaka, M.
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<strong>Versican interacts with chemokines and modulates cellular responses.</strong>
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J. Biol. Chem. 276: 5228-5234, 2001.
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[PubMed: 11083865]
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[Full Text: https://doi.org/10.1074/jbc.M007542200]
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<li>
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<p class="mim-text-font">
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Iozzo, R. V., Naso, M. F., Cannizzaro, L. A., Wasmuth, J. J., McPherson, J. D.
|
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<strong>Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14).</strong>
|
|
Genomics 14: 845-851, 1992.
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|
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[PubMed: 1478664]
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[Full Text: https://doi.org/10.1016/s0888-7543(05)80103-x]
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<p class="mim-text-font">
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Kim, S., Takahashi, H., Lin, W.-W., Descargues, P., Grivennikov, S., Kim, Y., Luo, J.-L., Karin, M.
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<strong>Carcinoma-produced factors activate myeloid cells through TLR2 to stimulate metastasis.</strong>
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Nature 457: 102-106, 2009.
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[PubMed: 19122641]
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[Full Text: https://doi.org/10.1038/nature07623]
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<p class="mim-text-font">
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Kjellen, L., Lindahl, U.
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<strong>Proteoglycans: structures and interactions.</strong>
|
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Annu. Rev. Biochem. 60: 443-475, 1991. Note: Erratum: Annu. Rev. Biochem. 61: following viii, 1992.
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[PubMed: 1883201]
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[Full Text: https://doi.org/10.1146/annurev.bi.60.070191.002303]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W.
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<strong>Identification of the genetic defect in the original Wagner syndrome family.</strong>
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Molec. Vis. 12: 350-355, 2006.
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[PubMed: 16636652]
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<li>
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<p class="mim-text-font">
|
|
Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W.
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<strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong>
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Europ. J. Hum. Genet. 21: 352-356, 2013.
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[PubMed: 22739342]
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[Full Text: https://doi.org/10.1038/ejhg.2012.137]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M.
|
|
<strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong>
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Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.
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[PubMed: 16043844]
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[Full Text: https://doi.org/10.1167/iovs.05-0057]
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</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M.
|
|
<strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong>
|
|
Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.
|
|
|
|
|
|
[PubMed: 16877430]
|
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|
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|
|
[Full Text: https://doi.org/10.1167/iovs.06-0141]
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</p>
|
|
</li>
|
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<li>
|
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<p class="mim-text-font">
|
|
Naso, M. F., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V.
|
|
<strong>Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13.</strong>
|
|
Genomics 29: 297-300, 1995.
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|
|
|
|
|
[PubMed: 8530092]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.1251]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Naso, M. F., Zimmermann, D. R., Iozzo, R. V.
|
|
<strong>Characterization of the complete genomic structure of the human versican gene and functional analysis of its promoter.</strong>
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