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Entry
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- *125255 - DECORIN; DCN
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*125255</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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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/125255">Table View</a>
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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=ENSG00000011465;t=ENST00000052754" 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=1634" 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=125255" 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=ENSG00000011465;t=ENST00000052754" 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_001920,NM_133503,NM_133504,NM_133505,NM_133506,NM_133507" 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_001920" 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=125255" 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=00501&isoform_id=00501_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/DCN" 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/129951,181519,609452,4503271,5532411,5532413,5532415,7381209,7381211,13529086,19569784,19743846,19743848,19743850,19743852,19743854,33096793,47115289,49456847,54696462,119617856,119617857,119617858,119617859,119617860,119617861,119617862,119617863,119617864,119617865,119617866,158256054,957949247,957949249,957949252,957949255" 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/P07585" 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=1634" 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=ENSG00000011465;t=ENST00000052754" 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=DCN" 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=DCN" 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+1634" 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/DCN" 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:1634" 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/1634" 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=chr12&hgg_gene=ENST00000052754.10&hgg_start=91140484&hgg_end=91182817&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">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" 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="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://medlineplus.gov/genetics/gene/dcn" 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=125255[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 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=125255[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://gnomad.broadinstitute.org/gene/ENSG00000011465" 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=DCN" 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=DCN" 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=DCN" 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=DCN&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/PA27177" 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">
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<span class="panel-title">
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<span class="small">
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<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:2705" 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:94872" 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/DCN#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:94872" 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/1634/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=1634" 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-010102-1" 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>
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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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="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>
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</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:1634" 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=DCN&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>
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<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>
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<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> 702359002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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125255
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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>
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<h3>
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<span class="mim-font">
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DECORIN; DCN
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</span>
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</h3>
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</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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DERMATAN SULFATE PROTEOGLYCAN 2; DSPG2<br />
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PROTEOGLYCAN II<br />
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PG II<br />
|
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PG40
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</span>
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</h4>
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</div>
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DCN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DCN</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/677?start=-3&limit=10&highlight=677">12q21.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:91140484-91182817&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'})">12:91,140,484-91,182,817</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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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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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/12/677?start=-3&limit=10&highlight=677">
|
|
12q21.33
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Corneal dystrophy, congenital stromal
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/610048"> 610048 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/125255" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/125255" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Decorin (DCN) is a small proteoglycan that interacts with type I collagen fibrils, thereby influencing the kinetics of fibril formation and the distance between adjacent collagen fibrils (<a href="#17" class="mim-tip-reference" title="Schonherr, E., Witsch-Prehm, P., Harrach, B., Robenek, H., Rauterberg, J., Kresse, H. <strong>Interaction of biglycan with type I collagen.</strong> J. Biol. Chem. 270: 2776-2783, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7852349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7852349</a>] [<a href="https://doi.org/10.1074/jbc.270.6.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7852349">Schonherr et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7852349" 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="#2" class="mim-tip-reference" title="Danielson, K. G., Fazzio, A., Cohen, I., Cannizzaro, L. A., Eichstetter, I., Iozzo, R. V. <strong>The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23.</strong> Genomics 15: 146-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432526</a>] [<a href="https://doi.org/10.1006/geno.1993.1022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432526">Danielson et al. (1993)</a> reported that the deduced DCN protein contains an N-terminal propeptide sequence, followed by a single glycosaminoglycan attachment site, a cysteine-rich region, and 10 tandem, leucine-rich repeats of a nominal 24-residue consensus sequence. Using Northern blot analysis or RT-PCR, they detected 2 alternatively spliced leader exons of the DCN gene in a variety of mRNAs isolated from human cell lines and tissues. Sequences highly homologous (74-87%) to exons Ia and Ib were found in the 5-prime untranslated region of avian and bovine decorin, respectively. This high degree of conservation among species suggested regulatory functions for these leader exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432526" 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 situ hybridization studies of developing mouse embryos suggested that decorin may play a role in epithelial/mesenchymal interactions during organ development and shaping (<a href="#16" class="mim-tip-reference" title="Scholzen, T., Solursh, M., Suzuki, S., Reiter, R., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V. <strong>The murine decorin: complete cDNA cloning, genomic organization, chromosomal assignment, and expression during organogenesis and tissue differentiation.</strong> J. Biol. Chem. 269: 28270-28281, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961765</a>]" pmid="7961765">Scholzen et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7961765" 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="#2" class="mim-tip-reference" title="Danielson, K. G., Fazzio, A., Cohen, I., Cannizzaro, L. A., Eichstetter, I., Iozzo, R. V. <strong>The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23.</strong> Genomics 15: 146-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432526</a>] [<a href="https://doi.org/10.1006/geno.1993.1022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432526">Danielson et al. (1993)</a> found that the human decorin gene spans more than 38 kb and contains 8 exons and very large introns, 2 of which are 5.4 and more than 13.2 kb. They discovered 2 alternatively spliced leader exons, Ia and Ib, in the 5-prime untranslated region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432526" 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>By Southern analysis of a panel of human-rodent somatic cell hybrid DNAs with cDNA probes, <a href="#7" class="mim-tip-reference" title="McBride, O. W., Fisher, L. W., Young, M. F. <strong>Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40) genes on human chromosomes Xq13-qter and 12q, respectively.</strong> Genomics 6: 219-255, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968422</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90560-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968422">McBride et al. (1990)</a> assigned the DCN gene to chromosome 12. Regionalization to 12p12.1-qter was obtained by examining hybrids containing spontaneous breaks or well-characterized translocations involving chromosome 12. Hybridization with subfragment cDNA probes suggested the presence of 2 copies of the DCN gene, or related sequences, at the locus on chromosome 12, although there was no evidence for the function of more than one DCN gene. By in situ hybridization, <a href="#10" class="mim-tip-reference" title="Pulkkinen, L., Alitalo, T., Krusius, T., Peltonen, L. <strong>Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN).</strong> Cytogenet. Cell Genet. 60: 107-111, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1611907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1611907</a>] [<a href="https://doi.org/10.1159/000133314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1611907">Pulkkinen et al. (1992)</a> placed the DCN gene at 12q21-q22. <a href="#19" class="mim-tip-reference" title="Vetter, U., Vogel, W., Just, W., Young, M. F., Fisher, L. W. <strong>Human decorin gene: intron-exon junctions and chromosomal localization.</strong> Genomics 15: 161-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432527</a>] [<a href="https://doi.org/10.1006/geno.1993.1023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432527">Vetter et al. (1993)</a> mapped the human decorin gene by in situ hybridization to 12q21.3. Using a genomic clone as the labeled probe and in situ hybridization, <a href="#2" class="mim-tip-reference" title="Danielson, K. G., Fazzio, A., Cohen, I., Cannizzaro, L. A., Eichstetter, I., Iozzo, R. V. <strong>The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23.</strong> Genomics 15: 146-160, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432526</a>] [<a href="https://doi.org/10.1006/geno.1993.1022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432526">Danielson et al. (1993)</a> mapped the DCN gene to 12q23. They specifically noted that there were 4 times as many grains centered on 12q23 as on 12q21, where <a href="#10" class="mim-tip-reference" title="Pulkkinen, L., Alitalo, T., Krusius, T., Peltonen, L. <strong>Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN).</strong> Cytogenet. Cell Genet. 60: 107-111, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1611907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1611907</a>] [<a href="https://doi.org/10.1159/000133314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1611907">Pulkkinen et al. (1992)</a> had placed the probable site. In a study of candidate genes for Noonan syndrome (<a href="/entry/163950">163950</a>), <a href="#4" class="mim-tip-reference" title="Ion, A., Crosby, A. H., Kremer, H., Kenmochi, N., Van Reen, M., Fenske, C., Van Der Burgt, I., Brunner, H. G., Montgomery, K. <strong>Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.</strong> J. Med. Genet. 37: 884-886, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11185075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11185075</a>] [<a href="https://doi.org/10.1136/jmg.37.11.884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11185075">Ion et al. (2000)</a> reassigned the map position of DCN to 12q13.2 using FISH. <a href="#16" class="mim-tip-reference" title="Scholzen, T., Solursh, M., Suzuki, S., Reiter, R., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V. <strong>The murine decorin: complete cDNA cloning, genomic organization, chromosomal assignment, and expression during organogenesis and tissue differentiation.</strong> J. Biol. Chem. 269: 28270-28281, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961765</a>]" pmid="7961765">Scholzen et al. (1994)</a> assigned the homologous gene in the mouse to chromosome 10, using interspecific backcrossing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8432527+11185075+1968422+7961765+8432526+1611907" 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="#20" class="mim-tip-reference" title="Vogel, K. G., Clark, P. E. <strong>Small proteoglycan synthesis by skin fibroblasts cultured from elderly donors and patients with defined defects in types I and III collagen metabolism.</strong> Europ. J. Cell Biol. 49: 236-243, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2776773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2776773</a>]" pmid="2776773">Vogel and Clark (1989)</a> found little evidence that the metabolism of either decorin or biglycan (BGN; <a href="/entry/301870">301870</a>) is altered by abnormalities in the structure or secretion of types I and III collagen. In a presumably homozygous case of the Marfan syndrome (<a href="/entry/154700">154700</a>) reported by <a href="#15" class="mim-tip-reference" title="Schollin, J., Bjarke, B., Gustavson, K.-H. <strong>Probable homozygotic form of the Marfan syndrome in a newborn child.</strong> Acta Paediat. Scand. 77: 452-456, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3389143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3389143</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1988.tb10679.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3389143">Schollin et al. (1988)</a>, <a href="#11" class="mim-tip-reference" title="Pulkkinen, L., Kainulainen, K., Krusius, T., Makinen, P., Schollin, J., Gustavsson, K.-H., Peltonen, L. <strong>Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.</strong> J. Biol. Chem. 265: 17780-17785, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2211661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2211661</a>]" pmid="2211661">Pulkkinen et al. (1990)</a> found markedly decreased level of mRNA for decorin, markedly decreased decorin polypeptide in the culture medium of fibroblasts from the infant, and deficient effect of interleukin-1-beta (<a href="/entry/147720">147720</a>) on the transcription of decorin as tested in these fibroblasts. In 3 of 12 other unrelated Marfan patients, they also found deficient decorin expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2776773+2211661+3389143" 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 immunogold labeling, <a href="#17" class="mim-tip-reference" title="Schonherr, E., Witsch-Prehm, P., Harrach, B., Robenek, H., Rauterberg, J., Kresse, H. <strong>Interaction of biglycan with type I collagen.</strong> J. Biol. Chem. 270: 2776-2783, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7852349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7852349</a>] [<a href="https://doi.org/10.1074/jbc.270.6.2776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7852349">Schonherr et al. (1995)</a> found that both decorin and biglycan distributed along collagen fibrils in human MG-63 osteosarcoma cell collagen lattices and in human skin. Recombinant biglycan and decorin showed lower dissociation constants than their glycanated forms. Decorin competed with biglycan for collagen binding, suggesting that both proteoglycans use identical or adjacent binding sites on the fibril. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7852349" 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="#3" class="mim-tip-reference" title="Dyne, K. M., Valli, M., Forlino, A., Mottes, M., Kresse, H., Cetta, G. <strong>Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.</strong> Am. J. Med. Genet. 63: 161-166, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723103</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723103">Dyne et al. (1996)</a> studied 2 patients with osteogenesis imperfecta and the same gly415-to-ser mutation of the COL1A1 gene (<a href="/entry/120150#0044">120150.0044</a>), but a different clinical expression. They speculated that these differences could be the result of abnormalities in other connective tissue proteins. Since decorin is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly, they studied decorin production in skin fibroblasts from these 2 patients. Cultured fibroblasts from the patient with extremely severe osteogenesis imperfecta (classified as type II/III) were found to secrete barely detectable amounts of decorin into culture medium. Northern blot analysis showed decorin mRNA levels below the limit of detection. The patient with a less severe phenotype had fibroblasts that expressed decorin normally. <a href="#3" class="mim-tip-reference" title="Dyne, K. M., Valli, M., Forlino, A., Mottes, M., Kresse, H., Cetta, G. <strong>Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.</strong> Am. J. Med. Genet. 63: 161-166, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723103</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723103">Dyne et al. (1996)</a> suggested that the different clinical phenotypes could be due to the differing genetic backgrounds of the patients, such that in the more severely affected patient the absence of decorin aggravated the clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723103" 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>When expressed ectopically, decorin is capable of suppressing the growth of various tumor cell lines. <a href="#8" class="mim-tip-reference" title="Moscatello, D. K., Santra, M., Mann, D. M., McQuillan, D. J., Wong, A. J., Iozzo, R. V. <strong>Decorin suppresses tumor cell growth by activating the epidermal growth factor receptor.</strong> J. Clin. Invest. 101: 406-412, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435313</a>] [<a href="https://doi.org/10.1172/JCI846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435313">Moscatello et al. (1998)</a> demonstrated that it induced a marked growth suppression in A431 squamous carcinoma cells, when either exogenously added or endogenously produced by a transgene. Decorin caused rapid phosphorylation of the EGF receptor (<a href="/entry/131550">131550</a>) and a concurrent activation of mitogen-activated protein (MAP) kinase signal pathway. Thus, EGF and decorin converge functionally to regulate the cell cycle through activation of a common pathway that ultimately leads to growth suppression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9435313" 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="#21" class="mim-tip-reference" title="Wiberg, C., Hedbom, E., Khairullina, A., Lamande, S. R., Oldberg, A., Timpl, R., Morgelin, M., Heinegard, D. <strong>Biglycan and decorin bind close to the N-terminal region of the collagen VI triple helix.</strong> J. Biol. Chem. 276: 18947-18952, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259413</a>] [<a href="https://doi.org/10.1074/jbc.M100625200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11259413">Wiberg et al. (2001)</a> found that both biglycan and decorin showed a strong affinity for type VI collagen (see COL6A1, <a href="/entry/120220">120220</a>) extracted from human placenta. Digestion of the glycosaminoglycan side chains did not significantly affect binding. Both proteoglycans bound type VI collagen and competed equally with each other, suggesting that they bound to the same site on type VI collagen. Electron microscopy confirmed that biglycan and decorin bound exclusively to a domain close to the interface between the N terminus of the collagen triple-helical region and the following globular domain. Type VI collagen alpha-2 (COL6A2; <a href="/entry/120240">120240</a>) appeared to play a role in the interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11259413" 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 purified bovine proteins and fetal bovine nuchal ligament tissue, <a href="#12" class="mim-tip-reference" title="Reinboth, B., Hanssen, E., Cleary, E. G., Gibson, M. A. <strong>Molecular interactions of biglycan and decorin with elastic fiber components.</strong> J. Biol. Chem. 277: 3950-3957, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11723132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11723132</a>] [<a href="https://doi.org/10.1074/jbc.M109540200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11723132">Reinboth et al. (2002)</a> found that both biglycan and decorin bound the elastic fiber component tropoelastin (see ELN, <a href="/entry/130160">130160</a>) and fibrillin (FBN1; <a href="/entry/134797">134797</a>)-containing microfibrils. They did not bind the elastin-binding proteins Magp1 (MFAP2; <a href="/entry/156790">156790</a>) and Magp2 (MFAP5; <a href="/entry/601103">601103</a>). The isolated core biglycan and decorin proteins bound to tropoelastin more strongly than the intact proteoglycans, and biglycan bound tropoelastin more avidly than decorin. Blocking experiments suggested that biglycan and decorin bound closely spaced yet distinct sites on tropoelastin. Addition of Magp1 enhanced the binding of biglycan, but not decorin, to tropoelastin. Magp1 interacted with biglycan, but not decorin, in solution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11723132" 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>In a family with congenital stromal corneal dystrophy (CSCD; <a href="/entry/610048">610048</a>), <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> identified a heterozygous 1-bp deletion in the last exon, which they erroneously labeled exon 10 (<a href="#14" class="mim-tip-reference" title="Rodahl, E. <strong>Personal Communication.</strong> Baltimore, Md. 3/11/2009."None>Rodahl, 2009</a>), of the DCN gene (<a href="#0001">125255.0001</a>). The deletion was found in all affected family members but not in any healthy family member or in 200 normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671264" 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 Belgian mother and son with CSCD, <a href="#13" class="mim-tip-reference" title="Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H. <strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong> Am. J. Ophthal. 142: 520-521, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.03.064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16935612">Rodahl et al. (2006)</a> identified heterozygosity for a 1-bp deletion in the DCN gene (<a href="#0002">125255.0002</a>), causing a frameshift predicted to result in a stop codon at the same codon as the frameshift mutation (<a href="#0001">125255.0001</a>) in the Norwegian family studied by <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15671264+16935612" 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 Korean mother and daughter with CSCD, <a href="#6" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> identified heterozygosity for a 1-bp deletion in DCN (<a href="#0003">125255.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD, <a href="#5" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> identified heterozygosity for a 1-bp deletion in the DCN gene (<a href="#0004">125255.0004</a>) that was not present in unaffected family members or in 50 healthy controls. <a href="#5" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> noted that all 4 CSCD-associated frameshift mutations that had been reported cause a premature termination codon with loss of the 33 C-terminal amino acids of the decorin proteoglycan, suggesting that exon 8 is a mutational hotspot and a functionally important region of DCN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24413633" 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">rs80338741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338741;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=rs80338741" 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=rs80338741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Norwegian family originally reported by <a href="#9" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> with congenital stromal corneal dystrophy (CSCD; <a href="/entry/610048">610048</a>), <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> identified a heterozygous 1-bp deletion (967delT) in the last exon, which they erroneously labeled exon 10 (<a href="#14" class="mim-tip-reference" title="Rodahl, E. <strong>Personal Communication.</strong> Baltimore, Md. 3/11/2009."None>Rodahl, 2009</a>), of the DCN gene. The mutation was predicted to lead to a frameshift, alteration of 4 amino acids, and loss of the C-terminal 33 amino acids (Ser323fsTer5). <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> postulated that the defective interaction of mutant decorin with collagen would disturb the regularity of corneal collagen in affected heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5304426+15671264" 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>In a Belgian mother and son with congenital stromal corneal dystrophy (CSCD; <a href="/entry/610048">610048</a>), originally reported by <a href="#18" class="mim-tip-reference" title="Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B. <strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong> Cornea 21: 118-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805522</a>] [<a href="https://doi.org/10.1097/00003226-200201000-00025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805522">Van Ginderdeuren et al. (2002)</a>, <a href="#13" class="mim-tip-reference" title="Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H. <strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong> Am. J. Ophthal. 142: 520-521, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.03.064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16935612">Rodahl et al. (2006)</a> identified heterozygosity for a 1-bp deletion (c.941delC) in exon 10 of the DCN gene, causing a frameshift resulting in a premature termination codon (Pro314fsTer14) at the same codon as the frameshift mutation (<a href="#0001">125255.0001</a>) in the Norwegian family studied by <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a>. Both mutations are predicted to result in loss of the C-terminal 33 amino acids. <a href="#6" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> suggested that 'exon 10' in the report by <a href="#13" class="mim-tip-reference" title="Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H. <strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong> Am. J. Ophthal. 142: 520-521, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.03.064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16935612">Rodahl et al. (2006)</a> was a misprint for 'exon 8,' since the DCN gene has only 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11805522+15671264+21993463+16935612" 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>.0003 CORNEAL DYSTROPHY, CONGENITAL STROMAL</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"><span class="text-primary">●</span> rs397515545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515545;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397515545?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515545" 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=rs397515545" 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=RCV000055876" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055876" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055876</a>
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<p>In a Korean mother and daughter with congenital stromal corneal dystrophy (CSCD; <a href="/entry/610048">610048</a>), <a href="#6" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> identified heterozygosity for a 1-bp deletion (c.947delG) in exon 8 of the DCN gene, causing a frameshift predicted to result in a premature termination codon (Gly316AspfsTer12). The mutation was not found in the proband's unaffected son. <a href="#6" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> noted that this mutation results in a termination codon after residue 327, the same site as in the 2 previously reported frameshift mutations in CSCD families (<a href="#0001">125255.0001</a> and <a href="#0002">125255.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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">rs587777258 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777258;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=rs587777258" 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=rs587777258" 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=RCV000114315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114315</a>
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<p>In 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD (<a href="/entry/610048">610048</a>), <a href="#5" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> identified heterozygosity for a 1-bp deletion (c.962delA) in exon 8 of the DCN gene that was not present in unaffected family members or in 50 healthy controls, causing a frameshift predicted to result in a premature termination codon (Lys321ArgfsTer7) and loss of the 33 C-terminal amino acids of the decorin proteoglycan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24413633" 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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Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H.
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<strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong>
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Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671264" 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/10.1167/iovs.04-0804" target="_blank">Full Text</a>]
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Danielson, K. G., Fazzio, A., Cohen, I., Cannizzaro, L. A., Eichstetter, I., Iozzo, R. V.
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<strong>The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23.</strong>
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Genomics 15: 146-160, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432526" 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/10.1006/geno.1993.1022" target="_blank">Full Text</a>]
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Dyne, K. M., Valli, M., Forlino, A., Mottes, M., Kresse, H., Cetta, G.
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<strong>Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.</strong>
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Am. J. Med. Genet. 63: 161-166, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723103" 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/10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L" target="_blank">Full Text</a>]
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Ion, A., Crosby, A. H., Kremer, H., Kenmochi, N., Van Reen, M., Fenske, C., Van Der Burgt, I., Brunner, H. G., Montgomery, K.
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<strong>Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.</strong>
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J. Med. Genet. 37: 884-886, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11185075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11185075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11185075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C.
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<strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong>
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Cornea 33: 288-293, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24413633" 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/10.1097/ICO.0000000000000055" target="_blank">Full Text</a>]
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Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H.
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<strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong>
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Cornea 30: 1473-1477, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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/10.1097/ICO.0b013e3182137788" target="_blank">Full Text</a>]
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McBride, O. W., Fisher, L. W., Young, M. F.
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<strong>Localization of PGI (biglycan, BGN) and PGII (decorin, DCN, PG-40) genes on human chromosomes Xq13-qter and 12q, respectively.</strong>
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[<a href="https://doi.org/10.1016/0888-7543(90)90560-h" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI846" target="_blank">Full Text</a>]
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<strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong>
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[<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank">Full Text</a>]
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<a id="Pulkkinen1992" class="mim-anchor"></a>
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<strong>Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1611907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1611907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1611907" 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/10.1159/000133314" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Pulkkinen1990" class="mim-anchor"></a>
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<div class="">
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<strong>Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2211661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2211661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2211661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Reinboth2002" class="mim-anchor"></a>
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<strong>Molecular interactions of biglycan and decorin with elastic fiber components.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11723132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11723132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11723132" 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.M109540200" target="_blank">Full Text</a>]
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<a id="Rodahl2006" class="mim-anchor"></a>
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Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H.
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<strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16935612" 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/10.1016/j.ajo.2006.03.064" target="_blank">Full Text</a>]
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<a id="Rodahl2009" class="mim-anchor"></a>
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<p class="mim-text-font">
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Rodahl, E.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/11/2009.
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<a id="Schollin1988" class="mim-anchor"></a>
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<strong>Probable homozygotic form of the Marfan syndrome in a newborn child.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3389143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3389143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3389143" 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/10.1111/j.1651-2227.1988.tb10679.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Scholzen1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scholzen, T., Solursh, M., Suzuki, S., Reiter, R., Morgan, J. L., Buchberg, A. M., Siracusa, L. D., Iozzo, R. V.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7961765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Schonherr1995" class="mim-anchor"></a>
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<div class="">
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<strong>Interaction of biglycan with type I collagen.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7852349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7852349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7852349" 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.270.6.2776" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Van Ginderdeuren2002" class="mim-anchor"></a>
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Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B.
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<strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805522" 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/10.1097/00003226-200201000-00025" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Vetter1993" class="mim-anchor"></a>
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Vetter, U., Vogel, W., Just, W., Young, M. F., Fisher, L. W.
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<strong>Human decorin gene: intron-exon junctions and chromosomal localization.</strong>
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Genomics 15: 161-168, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432527" 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/10.1006/geno.1993.1023" target="_blank">Full Text</a>]
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Vogel, K. G., Clark, P. E.
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<strong>Small proteoglycan synthesis by skin fibroblasts cultured from elderly donors and patients with defined defects in types I and III collagen metabolism.</strong>
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Europ. J. Cell Biol. 49: 236-243, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2776773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2776773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2776773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Wiberg, C., Hedbom, E., Khairullina, A., Lamande, S. R., Oldberg, A., Timpl, R., Morgelin, M., Heinegard, D.
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<strong>Biglycan and decorin bind close to the N-terminal region of the collagen VI triple helix.</strong>
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J. Biol. Chem. 276: 18947-18952, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11259413" 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.M100625200" target="_blank">Full Text</a>]
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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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Patricia A. Hartz - updated : 4/8/2014
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 4/13/2006<br>Michael J. Wright - updated : 5/21/2001<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 3/25/1998
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<span class="mim-text-font">
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Victor A. McKusick : 2/11/1990
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carol : 08/09/2016<br>mgross : 05/16/2014<br>mgross : 5/15/2014<br>mcolton : 4/8/2014<br>carol : 4/8/2014<br>carol : 3/31/2014<br>mcolton : 3/31/2014<br>carol : 3/27/2014<br>carol : 2/6/2013<br>carol : 6/8/2012<br>joanna : 3/11/2009<br>alopez : 4/13/2006<br>alopez : 4/13/2006<br>alopez : 5/21/2001<br>alopez : 5/21/2001<br>carol : 1/29/1999<br>terry : 1/26/1999<br>carol : 12/29/1998<br>dkim : 7/24/1998<br>alopez : 3/25/1998<br>terry : 3/19/1998<br>terry : 1/31/1995<br>carol : 2/11/1993<br>carol : 8/14/1992<br>supermim : 3/16/1992<br>carol : 12/10/1990<br>carol : 12/3/1990
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<div class="col-md-8 col-md-offset-1">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 125255
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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DECORIN; DCN
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</span>
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</h3>
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</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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DERMATAN SULFATE PROTEOGLYCAN 2; DSPG2<br />
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PROTEOGLYCAN II<br />
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PG II<br />
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PG40
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</span>
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</h4>
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</div>
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DCN</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702359002;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12q21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:91,140,484-91,182,817 </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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</span>
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</p>
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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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q21.33
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</span>
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</td>
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<td>
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<span class="mim-font">
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Corneal dystrophy, congenital stromal
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</span>
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</td>
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<td>
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<span class="mim-font">
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610048
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Decorin (DCN) is a small proteoglycan that interacts with type I collagen fibrils, thereby influencing the kinetics of fibril formation and the distance between adjacent collagen fibrils (Schonherr et al., 1995). </p>
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</span>
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<div>
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<br />
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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>Cloning and Expression</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>Danielson et al. (1993) reported that the deduced DCN protein contains an N-terminal propeptide sequence, followed by a single glycosaminoglycan attachment site, a cysteine-rich region, and 10 tandem, leucine-rich repeats of a nominal 24-residue consensus sequence. Using Northern blot analysis or RT-PCR, they detected 2 alternatively spliced leader exons of the DCN gene in a variety of mRNAs isolated from human cell lines and tissues. Sequences highly homologous (74-87%) to exons Ia and Ib were found in the 5-prime untranslated region of avian and bovine decorin, respectively. This high degree of conservation among species suggested regulatory functions for these leader exons. </p><p>In situ hybridization studies of developing mouse embryos suggested that decorin may play a role in epithelial/mesenchymal interactions during organ development and shaping (Scholzen et al., 1994). </p>
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</span>
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<div>
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<br />
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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 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>Danielson et al. (1993) found that the human decorin gene spans more than 38 kb and contains 8 exons and very large introns, 2 of which are 5.4 and more than 13.2 kb. They discovered 2 alternatively spliced leader exons, Ia and Ib, in the 5-prime untranslated region. </p>
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</span>
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<div>
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<br />
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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>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>By Southern analysis of a panel of human-rodent somatic cell hybrid DNAs with cDNA probes, McBride et al. (1990) assigned the DCN gene to chromosome 12. Regionalization to 12p12.1-qter was obtained by examining hybrids containing spontaneous breaks or well-characterized translocations involving chromosome 12. Hybridization with subfragment cDNA probes suggested the presence of 2 copies of the DCN gene, or related sequences, at the locus on chromosome 12, although there was no evidence for the function of more than one DCN gene. By in situ hybridization, Pulkkinen et al. (1992) placed the DCN gene at 12q21-q22. Vetter et al. (1993) mapped the human decorin gene by in situ hybridization to 12q21.3. Using a genomic clone as the labeled probe and in situ hybridization, Danielson et al. (1993) mapped the DCN gene to 12q23. They specifically noted that there were 4 times as many grains centered on 12q23 as on 12q21, where Pulkkinen et al. (1992) had placed the probable site. In a study of candidate genes for Noonan syndrome (163950), Ion et al. (2000) reassigned the map position of DCN to 12q13.2 using FISH. Scholzen et al. (1994) assigned the homologous gene in the mouse to chromosome 10, using interspecific backcrossing. </p>
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</span>
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<div>
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<br />
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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>Vogel and Clark (1989) found little evidence that the metabolism of either decorin or biglycan (BGN; 301870) is altered by abnormalities in the structure or secretion of types I and III collagen. In a presumably homozygous case of the Marfan syndrome (154700) reported by Schollin et al. (1988), Pulkkinen et al. (1990) found markedly decreased level of mRNA for decorin, markedly decreased decorin polypeptide in the culture medium of fibroblasts from the infant, and deficient effect of interleukin-1-beta (147720) on the transcription of decorin as tested in these fibroblasts. In 3 of 12 other unrelated Marfan patients, they also found deficient decorin expression. </p><p>By immunogold labeling, Schonherr et al. (1995) found that both decorin and biglycan distributed along collagen fibrils in human MG-63 osteosarcoma cell collagen lattices and in human skin. Recombinant biglycan and decorin showed lower dissociation constants than their glycanated forms. Decorin competed with biglycan for collagen binding, suggesting that both proteoglycans use identical or adjacent binding sites on the fibril. </p><p>Dyne et al. (1996) studied 2 patients with osteogenesis imperfecta and the same gly415-to-ser mutation of the COL1A1 gene (120150.0044), but a different clinical expression. They speculated that these differences could be the result of abnormalities in other connective tissue proteins. Since decorin is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly, they studied decorin production in skin fibroblasts from these 2 patients. Cultured fibroblasts from the patient with extremely severe osteogenesis imperfecta (classified as type II/III) were found to secrete barely detectable amounts of decorin into culture medium. Northern blot analysis showed decorin mRNA levels below the limit of detection. The patient with a less severe phenotype had fibroblasts that expressed decorin normally. Dyne et al. (1996) suggested that the different clinical phenotypes could be due to the differing genetic backgrounds of the patients, such that in the more severely affected patient the absence of decorin aggravated the clinical phenotype. </p><p>When expressed ectopically, decorin is capable of suppressing the growth of various tumor cell lines. Moscatello et al. (1998) demonstrated that it induced a marked growth suppression in A431 squamous carcinoma cells, when either exogenously added or endogenously produced by a transgene. Decorin caused rapid phosphorylation of the EGF receptor (131550) and a concurrent activation of mitogen-activated protein (MAP) kinase signal pathway. Thus, EGF and decorin converge functionally to regulate the cell cycle through activation of a common pathway that ultimately leads to growth suppression. </p><p>Wiberg et al. (2001) found that both biglycan and decorin showed a strong affinity for type VI collagen (see COL6A1, 120220) extracted from human placenta. Digestion of the glycosaminoglycan side chains did not significantly affect binding. Both proteoglycans bound type VI collagen and competed equally with each other, suggesting that they bound to the same site on type VI collagen. Electron microscopy confirmed that biglycan and decorin bound exclusively to a domain close to the interface between the N terminus of the collagen triple-helical region and the following globular domain. Type VI collagen alpha-2 (COL6A2; 120240) appeared to play a role in the interaction. </p><p>Using purified bovine proteins and fetal bovine nuchal ligament tissue, Reinboth et al. (2002) found that both biglycan and decorin bound the elastic fiber component tropoelastin (see ELN, 130160) and fibrillin (FBN1; 134797)-containing microfibrils. They did not bind the elastin-binding proteins Magp1 (MFAP2; 156790) and Magp2 (MFAP5; 601103). The isolated core biglycan and decorin proteins bound to tropoelastin more strongly than the intact proteoglycans, and biglycan bound tropoelastin more avidly than decorin. Blocking experiments suggested that biglycan and decorin bound closely spaced yet distinct sites on tropoelastin. Addition of Magp1 enhanced the binding of biglycan, but not decorin, to tropoelastin. Magp1 interacted with biglycan, but not decorin, in solution. </p>
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</span>
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<div>
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<br />
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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>Molecular Genetics</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>In a family with congenital stromal corneal dystrophy (CSCD; 610048), Bredrup et al. (2005) identified a heterozygous 1-bp deletion in the last exon, which they erroneously labeled exon 10 (Rodahl, 2009), of the DCN gene (125255.0001). The deletion was found in all affected family members but not in any healthy family member or in 200 normal controls. </p><p>In a Belgian mother and son with CSCD, Rodahl et al. (2006) identified heterozygosity for a 1-bp deletion in the DCN gene (125255.0002), causing a frameshift predicted to result in a stop codon at the same codon as the frameshift mutation (125255.0001) in the Norwegian family studied by Bredrup et al. (2005). </p><p>In a Korean mother and daughter with CSCD, Kim et al. (2011) identified heterozygosity for a 1-bp deletion in DCN (125255.0003). </p><p>In 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD, Jing et al. (2014) identified heterozygosity for a 1-bp deletion in the DCN gene (125255.0004) that was not present in unaffected family members or in 50 healthy controls. Jing et al. (2014) noted that all 4 CSCD-associated frameshift mutations that had been reported cause a premature termination codon with loss of the 33 C-terminal amino acids of the decorin proteoglycan, suggesting that exon 8 is a mutational hotspot and a functionally important region of DCN. </p>
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</span>
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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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<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>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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>.0001 CORNEAL DYSTROPHY, CONGENITAL STROMAL</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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DCN, 1-BP DEL, 967T
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<br />
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SNP: rs80338741,
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ClinVar: RCV000018366
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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 Norwegian family originally reported by Odland (1968) with congenital stromal corneal dystrophy (CSCD; 610048), Bredrup et al. (2005) identified a heterozygous 1-bp deletion (967delT) in the last exon, which they erroneously labeled exon 10 (Rodahl, 2009), of the DCN gene. The mutation was predicted to lead to a frameshift, alteration of 4 amino acids, and loss of the C-terminal 33 amino acids (Ser323fsTer5). Bredrup et al. (2005) postulated that the defective interaction of mutant decorin with collagen would disturb the regularity of corneal collagen in affected heterozygotes. </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>.0002 CORNEAL DYSTROPHY, CONGENITAL STROMAL</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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DCN, 1-BP DEL, 941C
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<br />
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SNP: rs80338742,
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ClinVar: RCV000020465
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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 Belgian mother and son with congenital stromal corneal dystrophy (CSCD; 610048), originally reported by Van Ginderdeuren et al. (2002), Rodahl et al. (2006) identified heterozygosity for a 1-bp deletion (c.941delC) in exon 10 of the DCN gene, causing a frameshift resulting in a premature termination codon (Pro314fsTer14) at the same codon as the frameshift mutation (125255.0001) in the Norwegian family studied by Bredrup et al. (2005). Both mutations are predicted to result in loss of the C-terminal 33 amino acids. Kim et al. (2011) suggested that 'exon 10' in the report by Rodahl et al. (2006) was a misprint for 'exon 8,' since the DCN gene has only 8 exons. </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 CORNEAL DYSTROPHY, CONGENITAL STROMAL</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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DCN, 1-BP DEL, 947G
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<br />
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SNP: rs397515545,
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gnomAD: rs397515545,
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ClinVar: RCV000055876
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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 Korean mother and daughter with congenital stromal corneal dystrophy (CSCD; 610048), Kim et al. (2011) identified heterozygosity for a 1-bp deletion (c.947delG) in exon 8 of the DCN gene, causing a frameshift predicted to result in a premature termination codon (Gly316AspfsTer12). The mutation was not found in the proband's unaffected son. Kim et al. (2011) noted that this mutation results in a termination codon after residue 327, the same site as in the 2 previously reported frameshift mutations in CSCD families (125255.0001 and 125255.0002). </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 CORNEAL DYSTROPHY, CONGENITAL STROMAL</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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DCN, 1-BP DEL, 962A
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<br />
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SNP: rs587777258,
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ClinVar: RCV000114315
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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 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD (610048), Jing et al. (2014) identified heterozygosity for a 1-bp deletion (c.962delA) in exon 8 of the DCN gene that was not present in unaffected family members or in 50 healthy controls, causing a frameshift predicted to result in a premature termination codon (Lys321ArgfsTer7) and loss of the 33 C-terminal amino acids of the decorin proteoglycan. </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>REFERENCES</strong>
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</span>
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