3618 lines
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Entry
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- *603400 - CELLULAR COMMUNICATION NETWORK FACTOR 6; CCN6
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- OMIM
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<p>
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<span class="h4">*603400</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#cloning">Cloning and Expression</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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<a href="#mapping">Mapping</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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603400">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 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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<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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<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 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="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=ENSG00000112761;t=ENST00000368666" 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=8838" 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=603400" 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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<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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<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=ENSG00000112761;t=ENST00000368666" 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_003880,NM_198239,NR_125353,NR_125354,XM_011536220,XM_011536222,XM_011536223,XM_047419469" 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_198239" 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=603400" 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=04550&isoform_id=04550_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/CCN6" 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/4028585,4507925,4877970,17298188,34098394,37181823,37181825,74354513,76779379,76780287,116283337,119568658,119568659,119568660,119568661,119568662,308219338,767943807,767943813,1034652036,1727448238,2217363450,2462611089,2462611091,2462611093,2462611095" 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/O95389" 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=8838" 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=ENSG00000112761;t=ENST00000368666" 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=CCN6" 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=CCN6" 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+8838" 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/CCN6" 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:8838" 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/8838" 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=chr6&hgg_gene=ENST00000368666.7&hgg_start=112052813&hgg_end=112069686&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 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://search.clinicalgenome.org/kb/gene-dosage/HGNC:12771" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12771" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ccn6" 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=603400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603400[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/ENSG00000112761" 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.gwascentral.org/search?q=CCN6" 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=CCN6" 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=CCN6&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/PA37374" 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:12771" 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://flybase.org/reports/FBgn0052183.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2685581" 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/CCN6#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:2685581" 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/8838/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=8838" 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-041001-86" 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://reactome.org/content/query?q=CCN6&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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</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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603400
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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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CELLULAR COMMUNICATION NETWORK FACTOR 6; CCN6
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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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WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3
|
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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=CCN6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CCN6</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/6/784?start=-3&limit=10&highlight=784">6q21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:112052813-112069686&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'})">6:112,052,813-112,069,686</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/6/784?start=-3&limit=10&highlight=784">
|
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6q21
|
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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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Progressive pseudorheumatoid dysplasia
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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/208230"> 208230 </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 recessive">AR</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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|
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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/603400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603400" 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.">
|
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<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="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#7" class="mim-tip-reference" title="Pennica, D., Swanson, T. A., Welsh, J. W., Roy, M. A., Lawrence, D. A., Lee, J., Brush, J., Taneyhill, L. A., Deuel, B., Lew, M., Watanabe, C., Cohen, R. L., Melhem, M. F., Finley, G. G., Quirke, P., Goddard, A. D., Hillan, K. J., Gurney, A. L., Botstein, D., Levine, A. J. <strong>WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors.</strong> Proc. Nat. Acad. Sci. 95: 14717-14722, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9843955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.25.14717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843955">Pennica et al. (1998)</a> cloned and characterized 3 genes downstream in the Wnt signaling pathway that are relevant to malignant transformation: WISP1 (<a href="/entry/603398">603398</a>), WISP2 (<a href="/entry/603399">603399</a>), and WISP3. The WISP3 cDNA encodes a 354-amino acid protein. The authors found that WISP1 and WISP3 were overexpressed in colon tumors, whereas WISP2 expression was reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843955" 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>Using small interfering RNA, <a href="#5" class="mim-tip-reference" title="Miller, D. S., Sen, M. <strong>Potential role of WISP3 (CCN6) in regulating the accumulation of reactive oxygen species.</strong> Biochem. Biophys. Res. Commun. 355: 156-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17286957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17286957</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.01.114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17286957">Miller and Sen (2007)</a> showed that reduced WISP3 expression in a human chondrocyte cell line increased the amount of cellular reactive oxygen species (ROS). Conversely, treatment of chondrocytes or human umbilical vein endothelial cells with soluble WISP3 reduced ROS levels. Two disease-associated mutations in WISP3, cys78 to arg (C78R; <a href="#0004">603400.0004</a>) and trp331 to ter (W331X; <a href="#0002">603400.0002</a>), were associated with high cellular ROS levels. <a href="#5" class="mim-tip-reference" title="Miller, D. S., Sen, M. <strong>Potential role of WISP3 (CCN6) in regulating the accumulation of reactive oxygen species.</strong> Biochem. Biophys. Res. Commun. 355: 156-161, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17286957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17286957</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.01.114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17286957">Miller and Sen (2007)</a> concluded that WISP3 regulates accumulation of cellular ROS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17286957" 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="#6" class="mim-tip-reference" title="Nakamura, Y., Weidinger, G., Liang, J. O., Aquilina-Beck, A., Tamai, K., Moon, R. T., Warman, M. L. <strong>The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.</strong> J. Clin. Invest. 117: 3075-3086, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17823661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17823661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17823661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17823661">Nakamura et al. (2007)</a> found that overexpression of Wisp3 inhibited BMP (see <a href="/entry/112264">112264</a>) and WNT (see <a href="/entry/164820">164820</a>) signaling during zebrafish development. Zebrafish and human WISP3 inhibited BMP and WNT signaling in mammalian cells by binding to BMPs and to the WNT coreceptors LRP6 (<a href="/entry/603507">603507</a>) and frizzled (see <a href="/entry/603408">603408</a>), respectively. WISP3 with progressive pseudorheumatoid dysplasia (PPD; <a href="/entry/208230">208230</a>)-causing mutations had reduced activity in these assays. Morpholino-mediated inhibition of Wisp3 expression in developing zebrafish affected pharyngeal cartilage size and shape. <a href="#6" class="mim-tip-reference" title="Nakamura, Y., Weidinger, G., Liang, J. O., Aquilina-Beck, A., Tamai, K., Moon, R. T., Warman, M. L. <strong>The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.</strong> J. Clin. Invest. 117: 3075-3086, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17823661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17823661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17823661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17823661">Nakamura et al. (2007)</a> concluded that dysregulation of BMP and/or WNT signaling contributes to cartilage failure in humans with PPD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17823661" 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 use of a radiation hybrid mapping panel, <a href="#7" class="mim-tip-reference" title="Pennica, D., Swanson, T. A., Welsh, J. W., Roy, M. A., Lawrence, D. A., Lee, J., Brush, J., Taneyhill, L. A., Deuel, B., Lew, M., Watanabe, C., Cohen, R. L., Melhem, M. F., Finley, G. G., Quirke, P., Goddard, A. D., Hillan, K. J., Gurney, A. L., Botstein, D., Levine, A. J. <strong>WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors.</strong> Proc. Nat. Acad. Sci. 95: 14717-14722, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9843955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.95.25.14717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843955">Pennica et al. (1998)</a> mapped the WISP3 gene to 6q22-q23, approximately 18 Mb proximal to connective tissue growth factor (CTGF; <a href="/entry/121009">121009</a>) at 6q23.1 and 23 Mb proximal to MYB (<a href="/entry/189990">189990</a>) at 6q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843955" 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>WISP3 is a member of the CCN (for CTGF, CYR61 (<a href="/entry/602369">602369</a>), and NOV (<a href="/entry/164958">164958</a>)) gene family, which encode cysteine-rich secreted proteins with roles in cell growth and differentiation (<a href="#1" class="mim-tip-reference" title="Bork, P. <strong>The modular architecture of a new family of growth regulators related to connective tissue growth factor.</strong> FEBS Lett. 327: 125-130, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7687569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7687569</a>] [<a href="https://doi.org/10.1016/0014-5793(93)80155-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7687569">Bork, 1993</a>). Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest that they have nonredundant roles. Using a positional-candidate approach, <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found that mutations in the WISP3 gene are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>). Patients with this disorder are asymptomatic in early childhood. Signs and symptoms of disease typically develop between 3 and 8 years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations had not been reported in this disorder. Cartilage appears to be the primary affected tissue, and in 1 patient studied by <a href="#8" class="mim-tip-reference" title="Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H. <strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong> Europ. J. Pediat. 140: 34-40, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873109</a>] [<a href="https://doi.org/10.1007/BF00661902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873109">Spranger et al. (1983)</a>, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> identified 9 different mutations in the WISP3 gene in unrelated affected individuals, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Of the 9 mutations found, those in patients from Italy, France, and the U.S. were present in compound heterozygous state; those from Saudi Arabia, Jordan, and Iran were present in homozygous state, reflecting the differences in the frequency of consanguinity in the different populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7687569+6873109+10471507" 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 an Italian family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found compound heterozygosity for a G-to-A transition at nucleotide 434 of the WISP3 gene, resulting in a cys145-to-tyr (C145Y) substitution, and a G-to-A transition at nucleotide 993 of the WISP3 gene, resulting in a trp331-to-ter substitution (W331X; <a href="#0002">603400.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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"><span class="text-primary">●</span> rs121908900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908900;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/rs121908900?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=rs121908900" 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=rs121908900" 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=RCV000006752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006752</a>
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<p>For discussion of the trp331-to-ter (W331X) mutation in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>) by <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a>, see <a href="#0001">603400.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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CCN6, CYS52TER
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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> rs121908901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908901;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/rs121908901?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=rs121908901" 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=rs121908901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006753 OR RCV001196832 OR RCV001267919" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006753, RCV001196832, RCV001267919" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006753...</a>
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<p>In a French family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found compound heterozygosity for a C-to-A transversion at nucleotide 156 of the CCN6 gene, resulting in a cys52-to-ter (C52X) substitution, and a T-to-C transition at nucleotide 232 of the WISP3 gene, resulting in a cys78-to-arg substitution (C78R; <a href="#0004">603400.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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CCN6, CYS78ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908902;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=rs121908902" 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=rs121908902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs17073260 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17073260;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/rs17073260?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=rs17073260" 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=rs17073260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006754" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006754" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006754</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>For discussion of the cys78-to-arg (C78R) mutation in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>) by <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a>, see <a href="#0003">603400.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</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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CCN6, 1-BP DEL, 246A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044438 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044438;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=rs797044438" 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=rs797044438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006755 OR RCV000726875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006755, RCV000726875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006755...</a>
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<span class="mim-text-font">
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<p>In 2 families from Saudi Arabia and 1 family from Jordan with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found homozygosity for a 1-bp deletion at nucleotide 246 of the WISP3 gene, resulting in a frameshift after residue 82 with a stop 21 residues downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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CCN6, IVS1DS, 1-BP INS, +2T
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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> rs797044439 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044439;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/rs797044439?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=rs797044439" 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=rs797044439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006756" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006756" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006756</a>
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<p>In a family from Jordan with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found homozygosity for an altered intron 1 splice donor site, an insertion of a T at the second nucleotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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</h4>
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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> rs863223286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223286;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/rs863223286?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=rs863223286" 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=rs863223286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006757 OR RCV002512851 OR RCV003415669" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006757, RCV002512851, RCV003415669" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006757...</a>
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<p>In a family from the United States with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found compound heterozygous mutations in the WISP3 gene: a 2-bp insertion at nucleotide 863, resulting in a frameshift at residue 288 with a stop 24 residues downstream, and 2-bp deletion at nucleotide 43 (43_44delGC; <a href="#0008">603400.0008</a>), resulting in a frameshift at residue 15 with a stop 15 residues downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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CCN6, 2-BP DEL, 43GC
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554311394 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554311394;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=rs1554311394" 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=rs1554311394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006758 OR RCV003555945" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006758, RCV003555945" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006758...</a>
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<p>For discussion of the 2-bp deletion (43_44delGC)in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>) by <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a>, see <a href="#0007">603400.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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</h4>
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CCN6, 2-BP DEL, 866AG
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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> rs781838640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs781838640;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/rs781838640?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=rs781838640" 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=rs781838640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000520702 OR RCV001385328" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000520702, RCV001385328" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000520702...</a>
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</span>
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<span class="mim-text-font">
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<p>In a family from Iran with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#2" class="mim-tip-reference" title="Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L. <strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong> Nature Genet. 23: 94-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>] [<a href="https://doi.org/10.1038/12699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471507">Hurvitz et al. (1999)</a> found homozygosity for a 2-bp deletion at nucleotide 866 of the WISP3 gene, resulting in a frameshift at residue 289 with a stop 11 residues downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</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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<div style="float: left;">
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CCN6, SER334PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908903 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908903;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=rs121908903" 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=rs121908903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006760 OR RCV003555946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006760, RCV003555946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006760...</a>
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</span>
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<p>In affected members of a Chinese family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#4" class="mim-tip-reference" title="Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D. <strong>Human gene mutations.</strong> Hum. Genet. 115: 174 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300987</a>]" pmid="15300987">Liao et al. (2004)</a> identified a T-to-C transition in the WISP3 gene, changing codon 334 from TCT (ser) to CCT (pro) (S334P). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
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</span>
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</h4>
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</div>
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CCN6, 1-BP DEL, 855T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044440 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044440;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=rs797044440" 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=rs797044440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006761</a>
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<span class="mim-text-font">
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<p>In affected members of a Chinese family with progressive pseudorheumatoid arthropathy (PPRD; <a href="/entry/208230">208230</a>), <a href="#3" class="mim-tip-reference" title="Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D. <strong>Human gene mutations.</strong> Hum. Genet. 115: 169 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300964</a>]" pmid="15300964">Liao et al. (2004)</a> identified a 1-bp deletion (855delT) in the WISP3 gene, resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Bork1993" class="mim-anchor"></a>
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Bork, P.
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<strong>The modular architecture of a new family of growth regulators related to connective tissue growth factor.</strong>
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FEBS Lett. 327: 125-130, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7687569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7687569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7687569" 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/10.1016/0014-5793(93)80155-n" target="_blank">Full Text</a>]
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<a id="Hurvitz1999" class="mim-anchor"></a>
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Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L.
|
|
<strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong>
|
|
Nature Genet. 23: 94-98, 1999.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471507" 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/10.1038/12699" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Liao2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D.
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<strong>Human gene mutations.</strong>
|
|
Hum. Genet. 115: 169 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Liao2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D.
|
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<strong>Human gene mutations.</strong>
|
|
Hum. Genet. 115: 174 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Miller2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miller, D. S., Sen, M.
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<strong>Potential role of WISP3 (CCN6) in regulating the accumulation of reactive oxygen species.</strong>
|
|
Biochem. Biophys. Res. Commun. 355: 156-161, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17286957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17286957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17286957" 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.bbrc.2007.01.114" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Nakamura2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakamura, Y., Weidinger, G., Liang, J. O., Aquilina-Beck, A., Tamai, K., Moon, R. T., Warman, M. L.
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<strong>The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.</strong>
|
|
J. Clin. Invest. 117: 3075-3086, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17823661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17823661</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17823661[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17823661" 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/10.1172/JCI32001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Pennica1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pennica, D., Swanson, T. A., Welsh, J. W., Roy, M. A., Lawrence, D. A., Lee, J., Brush, J., Taneyhill, L. A., Deuel, B., Lew, M., Watanabe, C., Cohen, R. L., Melhem, M. F., Finley, G. G., Quirke, P., Goddard, A. D., Hillan, K. J., Gurney, A. L., Botstein, D., Levine, A. J.
|
|
<strong>WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 14717-14722, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843955</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9843955[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843955" 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/10.1073/pnas.95.25.14717" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Spranger1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H.
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<strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong>
|
|
Europ. J. Pediat. 140: 34-40, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873109" 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/10.1007/BF00661902" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 : 11/2/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 7/14/2004<br>Victor A. McKusick - updated : 8/27/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/5/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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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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carol : 02/24/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/24/2021<br>carol : 10/08/2020<br>carol : 10/07/2020<br>alopez : 09/14/2015<br>mcolton : 8/3/2015<br>mgross : 11/6/2007<br>terry : 11/2/2007<br>tkritzer : 7/20/2004<br>terry : 7/14/2004<br>mgross : 8/27/1999<br>terry : 8/27/1999<br>alopez : 4/6/1999<br>carol : 2/15/1999<br>carol : 1/5/1999
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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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<strong>*</strong> 603400
|
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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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|
CELLULAR COMMUNICATION NETWORK FACTOR 6; CCN6
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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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<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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WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3
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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: CCN6</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>
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<em>
|
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Cytogenetic location: 6q21
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:112,052,813-112,069,686 </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<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">
|
|
6q21
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Progressive pseudorheumatoid dysplasia
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
208230
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</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">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<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">
|
|
<p>Pennica et al. (1998) cloned and characterized 3 genes downstream in the Wnt signaling pathway that are relevant to malignant transformation: WISP1 (603398), WISP2 (603399), and WISP3. The WISP3 cDNA encodes a 354-amino acid protein. The authors found that WISP1 and WISP3 were overexpressed in colon tumors, whereas WISP2 expression was reduced. </p>
|
|
</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">
|
|
<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">
|
|
<p>Using small interfering RNA, Miller and Sen (2007) showed that reduced WISP3 expression in a human chondrocyte cell line increased the amount of cellular reactive oxygen species (ROS). Conversely, treatment of chondrocytes or human umbilical vein endothelial cells with soluble WISP3 reduced ROS levels. Two disease-associated mutations in WISP3, cys78 to arg (C78R; 603400.0004) and trp331 to ter (W331X; 603400.0002), were associated with high cellular ROS levels. Miller and Sen (2007) concluded that WISP3 regulates accumulation of cellular ROS. </p><p>Nakamura et al. (2007) found that overexpression of Wisp3 inhibited BMP (see 112264) and WNT (see 164820) signaling during zebrafish development. Zebrafish and human WISP3 inhibited BMP and WNT signaling in mammalian cells by binding to BMPs and to the WNT coreceptors LRP6 (603507) and frizzled (see 603408), respectively. WISP3 with progressive pseudorheumatoid dysplasia (PPD; 208230)-causing mutations had reduced activity in these assays. Morpholino-mediated inhibition of Wisp3 expression in developing zebrafish affected pharyngeal cartilage size and shape. Nakamura et al. (2007) concluded that dysregulation of BMP and/or WNT signaling contributes to cartilage failure in humans with PPD. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>By use of a radiation hybrid mapping panel, Pennica et al. (1998) mapped the WISP3 gene to 6q22-q23, approximately 18 Mb proximal to connective tissue growth factor (CTGF; 121009) at 6q23.1 and 23 Mb proximal to MYB (189990) at 6q22. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</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>WISP3 is a member of the CCN (for CTGF, CYR61 (602369), and NOV (164958)) gene family, which encode cysteine-rich secreted proteins with roles in cell growth and differentiation (Bork, 1993). Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest that they have nonredundant roles. Using a positional-candidate approach, Hurvitz et al. (1999) found that mutations in the WISP3 gene are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid arthropathy (PPRD; 208230). Patients with this disorder are asymptomatic in early childhood. Signs and symptoms of disease typically develop between 3 and 8 years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations had not been reported in this disorder. Cartilage appears to be the primary affected tissue, and in 1 patient studied by Spranger et al. (1983), a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. Hurvitz et al. (1999) identified 9 different mutations in the WISP3 gene in unrelated affected individuals, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Of the 9 mutations found, those in patients from Italy, France, and the U.S. were present in compound heterozygous state; those from Saudi Arabia, Jordan, and Iran were present in homozygous state, reflecting the differences in the frequency of consanguinity in the different populations. </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>11 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 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</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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CCN6, CYS145TYR
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<br />
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SNP: rs121908899,
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gnomAD: rs121908899,
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ClinVar: RCV000006751
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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 an Italian family with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found compound heterozygosity for a G-to-A transition at nucleotide 434 of the WISP3 gene, resulting in a cys145-to-tyr (C145Y) substitution, and a G-to-A transition at nucleotide 993 of the WISP3 gene, resulting in a trp331-to-ter substitution (W331X; 603400.0002). </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">
|
|
<strong>.0002 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</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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CCN6, TRP331TER
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<br />
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SNP: rs121908900,
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gnomAD: rs121908900,
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ClinVar: RCV000006752
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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>For discussion of the trp331-to-ter (W331X) mutation in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; 208230) by Hurvitz et al. (1999), see 603400.0001. </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>
|
|
<span class="mim-font">
|
|
<strong>.0003 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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CCN6, CYS52TER
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<br />
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SNP: rs121908901,
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|
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gnomAD: rs121908901,
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|
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ClinVar: RCV000006753, RCV001196832, RCV001267919
|
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|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French family with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found compound heterozygosity for a C-to-A transversion at nucleotide 156 of the CCN6 gene, resulting in a cys52-to-ter (C52X) substitution, and a T-to-C transition at nucleotide 232 of the WISP3 gene, resulting in a cys78-to-arg substitution (C78R; 603400.0004). </p>
|
|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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CCN6, CYS78ARG
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<br />
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|
|
SNP: rs121908902, rs17073260,
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|
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|
|
gnomAD: rs17073260,
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|
|
|
|
|
ClinVar: RCV000006754
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the cys78-to-arg (C78R) mutation in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; 208230) by Hurvitz et al. (1999), see 603400.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, 1-BP DEL, 246A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797044438,
|
|
|
|
|
|
|
|
ClinVar: RCV000006755, RCV000726875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 families from Saudi Arabia and 1 family from Jordan with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found homozygosity for a 1-bp deletion at nucleotide 246 of the WISP3 gene, resulting in a frameshift after residue 82 with a stop 21 residues downstream. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, IVS1DS, 1-BP INS, +2T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797044439,
|
|
|
|
|
|
gnomAD: rs797044439,
|
|
|
|
|
|
ClinVar: RCV000006756
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family from Jordan with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found homozygosity for an altered intron 1 splice donor site, an insertion of a T at the second nucleotide. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, 2-BP INS, 863AC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs863223286,
|
|
|
|
|
|
gnomAD: rs863223286,
|
|
|
|
|
|
ClinVar: RCV000006757, RCV002512851, RCV003415669
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family from the United States with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found compound heterozygous mutations in the WISP3 gene: a 2-bp insertion at nucleotide 863, resulting in a frameshift at residue 288 with a stop 24 residues downstream, and 2-bp deletion at nucleotide 43 (43_44delGC; 603400.0008), resulting in a frameshift at residue 15 with a stop 15 residues downstream. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, 2-BP DEL, 43GC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554311394,
|
|
|
|
|
|
|
|
ClinVar: RCV000006758, RCV003555945
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion (43_44delGC)in the WISP3 gene that was found in compound heterozygous state in a family with progressive pseudorheumatoid arthropathy (PPRD; 208230) by Hurvitz et al. (1999), see 603400.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, 2-BP DEL, 866AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs781838640,
|
|
|
|
|
|
gnomAD: rs781838640,
|
|
|
|
|
|
ClinVar: RCV000520702, RCV001385328
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family from Iran with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found homozygosity for a 2-bp deletion at nucleotide 866 of the WISP3 gene, resulting in a frameshift at residue 289 with a stop 11 residues downstream. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, SER334PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908903,
|
|
|
|
|
|
|
|
ClinVar: RCV000006760, RCV003555946
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Chinese family with progressive pseudorheumatoid arthropathy (PPRD; 208230), Liao et al. (2004) identified a T-to-C transition in the WISP3 gene, changing codon 334 from TCT (ser) to CCT (pro) (S334P). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CCN6, 1-BP DEL, 855T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797044440,
|
|
|
|
|
|
|
|
ClinVar: RCV000006761
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Chinese family with progressive pseudorheumatoid arthropathy (PPRD; 208230), Liao et al. (2004) identified a 1-bp deletion (855delT) in the WISP3 gene, resulting in a frameshift. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bork, P.
|
|
<strong>The modular architecture of a new family of growth regulators related to connective tissue growth factor.</strong>
|
|
FEBS Lett. 327: 125-130, 1993.
|
|
|
|
|
|
[PubMed: 7687569]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(93)80155-n]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hurvitz, J. R., Suwairi, W. M., Van Hul, W., El-Shanti, H., Superti-Furga, A., Roudier, J., Holderbaum, D., Pauli, R. M., Herd, J. K., Van Hul, E., Rezai-Delui, H., Legius, E., Le Merrer, M., Al-Alami, J., Bahabri, S. A., Warman, M. L.
|
|
<strong>Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.</strong>
|
|
Nature Genet. 23: 94-98, 1999.
|
|
|
|
|
|
[PubMed: 10471507]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/12699]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D.
|
|
<strong>Human gene mutations.</strong>
|
|
Hum. Genet. 115: 169 only, 2004.
|
|
|
|
|
|
[PubMed: 15300964]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liao, E. Y., Peng, Y. Q., Zhou, H. D., Mackie, E. J., Li, J., Hu, P. A., Zhou, S. H., Wen, G. B., Zhai, M. X., Luo, X. H., Tan, L. H., Ni, J. D.
|
|
<strong>Human gene mutations.</strong>
|
|
Hum. Genet. 115: 174 only, 2004.
|
|
|
|
|
|
[PubMed: 15300987]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Miller, D. S., Sen, M.
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<strong>Potential role of WISP3 (CCN6) in regulating the accumulation of reactive oxygen species.</strong>
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Biochem. Biophys. Res. Commun. 355: 156-161, 2007.
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[PubMed: 17286957]
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[Full Text: https://doi.org/10.1016/j.bbrc.2007.01.114]
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Nakamura, Y., Weidinger, G., Liang, J. O., Aquilina-Beck, A., Tamai, K., Moon, R. T., Warman, M. L.
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<strong>The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.</strong>
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J. Clin. Invest. 117: 3075-3086, 2007.
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[PubMed: 17823661]
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[Full Text: https://doi.org/10.1172/JCI32001]
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Pennica, D., Swanson, T. A., Welsh, J. W., Roy, M. A., Lawrence, D. A., Lee, J., Brush, J., Taneyhill, L. A., Deuel, B., Lew, M., Watanabe, C., Cohen, R. L., Melhem, M. F., Finley, G. G., Quirke, P., Goddard, A. D., Hillan, K. J., Gurney, A. L., Botstein, D., Levine, A. J.
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<strong>WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors.</strong>
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Proc. Nat. Acad. Sci. 95: 14717-14722, 1998.
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[PubMed: 9843955]
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[Full Text: https://doi.org/10.1073/pnas.95.25.14717]
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Spranger, J., Albert, C., Schilling, F., Bartsocas, C., Stoss, H.
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<strong>Progressive pseudorheumatoid arthritis of childhood (PPAC): a hereditary disorder simulating rheumatoid arthritis.</strong>
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Europ. J. Pediat. 140: 34-40, 1983.
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[PubMed: 6873109]
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[Full Text: https://doi.org/10.1007/BF00661902]
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Patricia A. Hartz - updated : 11/2/2007<br>Victor A. McKusick - updated : 7/14/2004<br>Victor A. McKusick - updated : 8/27/1999
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Victor A. McKusick : 1/5/1999
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