3997 lines
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- *120270 - COLLAGEN, TYPE IX, ALPHA-3; COL9A3
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- OMIM
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<p>
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<span class="h4">*120270</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="#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="#animalModel">Animal Model</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/120270">Table View</a>
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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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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000092758;t=ENST00000649368" 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=1299" 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=120270" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="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=ENSG00000092758;t=ENST00000649368" 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_001853,XM_017027666,XM_047439893,XM_047439894,XM_047439895" 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_001853" 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=120270" 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=00374&isoform_id=00374_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/COL9A3" 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/975657,1196421,5712087,13325188,14043173,15079801,20137327,119508426,119595739,119595740,1034622801,2217334420,2217334422,2217334425,2462579418,2462579420,2462579422" 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/Q14050" 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=1299" 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=ENSG00000092758;t=ENST00000649368" 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=COL9A3" 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=COL9A3" 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+1299" 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/COL9A3" 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:1299" 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/1299" 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=chr20&hgg_gene=ENST00000649368.1&hgg_start=62816213&hgg_end=62841159&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 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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2219" 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/col9a3" 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=120270[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=120270[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/COL9A3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000092758" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=COL9A3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=COL9A3" 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=COL9A3" 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=COL9A3&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/PA26735" 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:2219" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:894686" 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/COL9A3#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:894686" 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/1299/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://omia.org/OMIA001522/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1299" 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-030131-9799" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1299" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=COL9A3&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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120270
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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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COLLAGEN, TYPE IX, ALPHA-3; COL9A3
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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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<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=COL9A3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL9A3</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/20/457?start=-3&limit=10&highlight=457">20q13.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:62816213-62841159&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'})">20:62,816,213-62,841,159</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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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=603932,600969,620022" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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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="3">
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<span class="mim-font">
|
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<a href="/geneMap/20/457?start=-3&limit=10&highlight=457">
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20q13.33
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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{Intervertebral disc disease, susceptibility to}
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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/603932"> 603932 </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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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Epiphyseal dysplasia, multiple, 3, with or without myopathy
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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/600969"> 600969 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Stickler syndrome, type VI
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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/620022"> 620022 </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">
|
|
|
|
<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/120270" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120270" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p><a href="#2" class="mim-tip-reference" title="Brewton, R. G., Wood, B. M., Ren, Z.-X., Gong, Y., Tiller, G. E., Warman, M. L., Lee, B., Horton, W. A., Olsen, B. R., Baker, J. R., Mayne, R. <strong>Molecular cloning of the alpha-3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.</strong> Genomics 30: 329-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586434</a>] [<a href="https://doi.org/10.1006/geno.1995.9870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586434">Brewton et al. (1995)</a> identified cDNA and genomic clones that encode the entire alpha-3 chain of type IX collagen. Also see COL9A1 (<a href="/entry/120210">120210</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586434" 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 genomic amplification, <a href="#2" class="mim-tip-reference" title="Brewton, R. G., Wood, B. M., Ren, Z.-X., Gong, Y., Tiller, G. E., Warman, M. L., Lee, B., Horton, W. A., Olsen, B. R., Baker, J. R., Mayne, R. <strong>Molecular cloning of the alpha-3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.</strong> Genomics 30: 329-336, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586434</a>] [<a href="https://doi.org/10.1006/geno.1995.9870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586434">Brewton et al. (1995)</a> identified a SSCP that was used to map COL9A3 to 20q13.3 by linkage analysis. By fluorescence in situ hybridization, radiation hybrid mapping, and multipoint linkage analysis, <a href="#13" class="mim-tip-reference" title="Tiller, G. E., Warman, M. L., Gong, Y., Knoll, J. H. M., Mayne, R., Brewton, R. G. <strong>Physical and linkage mapping of the gene for the alpha-3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.</strong> Cytogenet. Cell Genet. 81: 205-207, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730604</a>] [<a href="https://doi.org/10.1159/000015031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9730604">Tiller et al. (1998)</a> localized the COL9A3 gene to 20q13.3, 13 cM telomeric to D20S173. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9730604+8586434" 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><strong><em>Multiple Epiphyseal Dysplasia 3</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L. <strong>COL9A3: a third locus for multiple epiphyseal dysplasia.</strong> Am. J. Hum. Genet. 64: 1036-1044, 1999. Note: Erratum: Am. J. Hum. Genet. 65: 1214 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090888</a>] [<a href="https://doi.org/10.1086/302328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090888">Paassilta et al. (1999)</a> identified a splice site mutation (<a href="#0001">120270.0001</a>) in the COL9A3 gene in a family with multiple epiphyseal dysplasia (EDM3; <a href="/entry/600969">600969</a>). <a href="#1" class="mim-tip-reference" title="Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M. <strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong> Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10655510[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.97.3.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655510">Bonnemann et al. (2000)</a> found a COL9A3 splice site mutation (<a href="#0002">120270.0002</a>) in a family with multiple epiphyseal dysplasia and myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10090888+10655510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation Japanese family with EDM3, <a href="#8" class="mim-tip-reference" title="Nakashima, E., Kitoh, H., Maeda, K., Haga, N., Kosaki, R., Mabuchi,A., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 132A: 181-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15551337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15551337</a>] [<a href="https://doi.org/10.1002/ajmg.a.30411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15551337">Nakashima et al. (2005)</a> identified a heterozygous splice site mutation in the COL9A3 gene (<a href="#0004">120270.0004</a>). Affected members had knee pain ('occasional' in females) but were of normal height and had no signs or symptoms of muscle weakness. <a href="#8" class="mim-tip-reference" title="Nakashima, E., Kitoh, H., Maeda, K., Haga, N., Kosaki, R., Mabuchi,A., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 132A: 181-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15551337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15551337</a>] [<a href="https://doi.org/10.1002/ajmg.a.30411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15551337">Nakashima et al. (2005)</a> commented that these cases were milder than those reported by <a href="#10" class="mim-tip-reference" title="Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L. <strong>COL9A3: a third locus for multiple epiphyseal dysplasia.</strong> Am. J. Hum. Genet. 64: 1036-1044, 1999. Note: Erratum: Am. J. Hum. Genet. 65: 1214 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090888</a>] [<a href="https://doi.org/10.1086/302328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090888">Paassilta et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10090888+15551337" 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><strong><em>Stickler Syndrome, Type VI</em></strong></p><p>
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In 3 Moroccan sibs with hearing loss, visual defects, and skeletal abnormalities (STL6; <a href="/entry/620022">620022</a>), <a href="#3" class="mim-tip-reference" title="Faletra, F., D'Adamo, A. P., Bruno, I., Athanasakis, E., Biskup, S., Esposito, L., Gasparini, P. <strong>Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</strong> Am. J. Med. Genet. 164A: 42-47, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24273071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24273071</a>] [<a href="https://doi.org/10.1002/ajmg.a.36165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24273071">Faletra et al. (2014)</a> identified homozygosity for a 23-bp deletion in the COL9A3 gene (<a href="#0005">120270.0005</a>). Their unaffected first-cousin parents were heterozygous for the deletion, which was not found in 100 matched healthy controls or in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24273071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old Indian boy with hearing loss, myopia, and epiphyseal abnormalities, <a href="#5" class="mim-tip-reference" title="Hanson-Kahn, A., Li, B., Cohn, D. H., Nickerson, D. A., Bamshad, M. J., University of Washington Center for Mendelian Genomics, Hudgins, L. <strong>Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.</strong> Am. J. Med. Genet. 176A: 2887-2891, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30450842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30450842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30450842[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/10.1002/ajmg.a.40647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30450842">Hanson-Kahn et al. (2018)</a> identified homozygosity for a 1-bp duplication in the COL9A3 gene (<a href="#0006">120270.0006</a>). The mutation segregated with disease in the family and was not found in public SNP variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30450842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs with hearing loss, myopia, and hypoplastic vitreous, 1 of whom also exhibited severe arthropathy, <a href="#9" class="mim-tip-reference" title="Nixon, T. R. W., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W. P., Cobben, J., Snead, M. P. <strong>Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome--Expanding the phenotype.</strong> Am. J. Med. Genet. 179A: 1498-1506, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31090205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31090205</a>] [<a href="https://doi.org/10.1002/ajmg.a.61191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31090205">Nixon et al. (2019)</a> identified homozygosity for a nonsense mutation in the COL9A3 gene (R471X; <a href="#0007">120270.0007</a>). Their parents, who were heterozygous for the mutation, exhibited some features of Stickler syndrome, including arthritis and myopia in the mother, and arthritis and sensorineural hearing loss in the father. However, because these symptoms are not very specific and occur in the general population with considerable frequency, the authors concluded that there was no solid evidence for carrier manifestation of heterozygous COL9 null alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31090205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs, <a href="#7" class="mim-tip-reference" title="Markova, T., Sparber, P., Borovikov, A., Nagornova, T., Dadali, E. <strong>Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.</strong> Molec. Genet. Genomic Med. 9: e1620, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33570243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33570243</a>] [<a href="https://doi.org/10.1002/mgg3.1620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33570243">Markova et al. (2021)</a> performed targeted sequencing in 166 genes associated with congenital skeletal disorders and identified compound heterozygosity for 2 nonsense mutations in the COL9A3 gene, R90X (<a href="#0008">120270.0008</a>) and R577X (<a href="#0009">120270.0009</a>). Sanger sequencing confirmed familial segregation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33570243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By exome sequencing in 5 patients from 3 unrelated consanguineous Iranian families with high myopia, progressive moderate to profound sensorineural hearing loss, and variable skeletal changes, <a href="#12" class="mim-tip-reference" title="Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M. <strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong> Orphanet J. Rare Dis. 17: 97, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35241111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35241111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35241111[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/10.1186/s13023-022-02244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35241111">Rad et al. (2022)</a> identified homozygosity for truncating mutations in the COL9A3 gene: a 10-bp deletion (<a href="#0010">120270.0010</a>), a nonsense mutation (R402X; <a href="#0011">120270.0011</a>), and a 1-bp deletion (<a href="#0012">120270.0012</a>). The authors reviewed previously reported cases of biallelic COL9A3 loss-of-function variants and noted that high myopia and moderate to severe hearing loss appeared to be consistent features among all cases, whereas skeletal findings were more variable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35241111" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between susceptibility to intervertebral disc disease (see <a href="/entry/603932">603932</a>) and variation in the COL9A3 gene, see <a href="#0003">120270.0003</a>.</p>
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<p>In a canine model of oculoskeletal dysplasia in Labrador retrievers, termed drd1 (dwarfism with retinal dysplasia type 1), <a href="#4" class="mim-tip-reference" title="Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, T. N., Pearce-Kelling, S. E., Johnson, J., Aguirre, G. D., Acland, G. M. <strong>COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.</strong> Mammalian Genome 21: 398-408, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686772[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/10.1007/s00335-010-9276-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20686772">Goldstein et al. (2010)</a> identified a homozygous 1-bp insertion in exon 1 of the COL9A3 gene that segregated with the phenotype. The mutation affects the COL3 domain of the gene. Northern blot analysis showed reduced RNA expression of the COL9A3 gene in affected retinas. The drd1 phenotype is characterized by short-limb dwarfism and severe ocular defects, such as vitreous dysplasia, retinal detachment, and cataracts. Heterozygous carrier dogs may exhibit a milder ocular phenotype, such as vitreal strands or retinal dysplasia, but have a normal appendicular skeleton. <a href="#4" class="mim-tip-reference" title="Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, T. N., Pearce-Kelling, S. E., Johnson, J., Aguirre, G. D., Acland, G. M. <strong>COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.</strong> Mammalian Genome 21: 398-408, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686772[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/10.1007/s00335-010-9276-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20686772">Goldstein et al. (2010)</a> noted that the drd1 phenotype resembles human hereditary arthroophthalmopathies such as Stickler syndrome (<a href="/entry/108300">108300</a>), Kniest dysplasia (<a href="/entry/156550">156550</a>), and Marshall syndrome (<a href="/entry/154780">154780</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20686772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120270[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In affected members of a 4-generation family with multiple epiphyseal dysplasia (EDM3; <a href="/entry/600969">600969</a>), <a href="#10" class="mim-tip-reference" title="Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L. <strong>COL9A3: a third locus for multiple epiphyseal dysplasia.</strong> Am. J. Hum. Genet. 64: 1036-1044, 1999. Note: Erratum: Am. J. Hum. Genet. 65: 1214 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090888</a>] [<a href="https://doi.org/10.1086/302328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090888">Paassilta et al. (1999)</a> identified an A-to-T transversion in an acceptor splice site of intron 2 of the COL9A3 gene. The pedigree pattern in this family was consistent with linkage to the COL9A3 locus. The mutation led to skipping of exon 3 and an in-frame deletion of 12 amino acid residues in the COL3 domain of the alpha-3 chain of collagen IX. This appeared to be similar to the splice site mutation found in COL9A2 that causes skipping of exon 3 of the alpha-2 chain of collagen IX (<a href="/entry/120260#0001">120260.0001</a>). All affected family members experienced knee pain and stiffness during childhood. They had difficulty walking as a result of these symptoms, and some developed hip arthrosis and required surgical hip replacement after age 50 years. Affected adults had normal hands and no spinal symptoms; their height was normal and did not differ from that of unaffected family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090888" 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>.0002 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY</strong>
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<p><a href="#1" class="mim-tip-reference" title="Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M. <strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong> Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10655510[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.97.3.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655510">Bonnemann et al. (2000)</a> studied a family with autosomal dominant multiple epiphyseal dysplasia (EDM3; <a href="/entry/600969">600969</a>) affecting predominantly the knee joints and a mild proximal myopathy. Genetic linkage to the COL9A3 locus on chromosome 20q13.3 was established with a peak lod score of 3.87 for markers D20S93 and D20S164. RT-PCR performed on muscle biopsy revealed aberrant mRNA lacking exon 3, which predicted a protein lacking 12 amino acids from the COL3 domain of alpha-3(IX) collagen. Direct sequencing of genomic DNA confirmed the presence of a splice acceptor mutation in intron 2 of the COL9A3 gene only in affected family members. By electron microscopy, chondrocytes from epiphyseal cartilage exhibited dilated rough endoplasmic reticulum containing linear lamellae of alternating electron-dense and electron-lucent material, reflecting abnormal processing of mutant protein. Type IX collagen chains appeared normal in size and quantity but showed defective crosslinking by Western blot analysis. <a href="#1" class="mim-tip-reference" title="Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M. <strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong> Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10655510[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.97.3.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655510">Bonnemann et al. (2000)</a> suggested that the MED and mild myopathy was likely caused by a dominant-negative effect of the exon 3-skipping mutation. Patients with MED and a waddling gait but minimal radiographic hip involvement should be evaluated for a primary myopathy and a mutation in type IX collagen. The proband in the family reported by <a href="#1" class="mim-tip-reference" title="Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M. <strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong> Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10655510[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.97.3.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655510">Bonnemann et al. (2000)</a> was a 10-year-old boy referred for evaluation of proximal muscle weakness and mildly elevated serum creatine kinase. He walked at 1 year of age but at age 3 was noted to have difficulty walking and climbing stairs. He always had difficulty rising from the floor and sometimes used a one-handed Gowers maneuver. He tired easily, never ran well, and complained of knee pain. He had significant weakness of neck flexion, mild weakness of shoulder abduction and elbow extension, and proximal lower limb weakness (hamstrings weaker than quadriceps). His height was 145.5 cm (90th percentile), and his hands appeared normal. The family history was notable for childhood-onset osteoarthritis and complaints of knee pain and stiffness in his mother and several relatives. Eleven members were affected across 3 generations. By x-ray, the epiphyseal changes characteristic of MED were most marked in the knee joints, followed by the ankle joints. Affected family members likewise showed MED predominantly affecting the knee joints and sparing the hips. The proband's mother had weak neck flexors and minimal weakness of the proximal extremities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655510" 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="Lohiniva, J., Paassilta, P., Seppanen, U., Vierimaa, O., Kivirikko, S., Ala-Kokko, L. <strong>Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 90: 216-222, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678658</a>]" pmid="10678658">Lohiniva et al. (2000)</a> found this mutation in a propositus and 2 affected relatives of a 3-generation family with MED. The phenotype consisted mainly of epiphyseal dysplasia of the knees and other joints in childhood, and osteochondrosis dissecans and osteoarthritis of the knee joints in adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678658" 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> rs61734651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61734651;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/rs61734651?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=rs61734651" 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=rs61734651" 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=RCV000018677 OR RCV000178853 OR RCV000834559 OR RCV002276557" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018677, RCV000178853, RCV000834559, RCV002276557" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018677...</a>
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<p>In Finland, <a href="#11" class="mim-tip-reference" title="Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L. <strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong> JAMA 285: 1843-1849, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11308397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11308397</a>] [<a href="https://doi.org/10.1001/jama.285.14.1843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11308397">Paassilta et al. (2001)</a> investigated the frequency of sequence variations in the coding sequences and exon boundaries of the 3 collagen IX genes in 171 individuals with lumbar disc disease (see <a href="/entry/603932">603932</a>) and 321 controls. Lumbar disc disease was evaluated clinically and by magnetic resonance imaging or computed tomography. They found an arg103-to-trp (R103W) substitution in the COL9A3 gene; the authors referred to the mutant allele as the trp3 allele. The trp3 allele was present in 12.2% of lumbar disc disease cases and in 4.7% of controls. It was estimated that the trp3 allele increased the risk of lumbar disc disease about 3-fold. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11308397" 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>.0004 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1600786748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1600786748;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=rs1600786748" 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=rs1600786748" 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=RCV000018678 OR RCV005089273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018678, RCV005089273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018678...</a>
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<p>In a 3-generation Japanese family with multiple epiphyseal dysplasia (EDM3; <a href="/entry/600969">600969</a>), <a href="#8" class="mim-tip-reference" title="Nakashima, E., Kitoh, H., Maeda, K., Haga, N., Kosaki, R., Mabuchi,A., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.</strong> Am. J. Med. Genet. 132A: 181-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15551337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15551337</a>] [<a href="https://doi.org/10.1002/ajmg.a.30411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15551337">Nakashima et al. (2005)</a> identified a heterozygous G-to-A transition at +5 of the donor splice site in intron 3 of the COL9A3 gene. RNA analysis revealed that the mutation caused splicing variants that could skip exon 3 or exons 2 and 3, both predicted to cause in-frame deletions resulting in loss of the COL3 domain of the alpha-3 chain of collagen IX. Affected members had knee pain ('occasional' in females) but were of normal height and had no signs or symptoms of muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15551337" 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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<strong>.0005 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, 23-BP DEL, NT1176
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231470 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231470;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=rs606231470" 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=rs606231470" 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=RCV002279937" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002279937" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002279937</a>
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<p>In 3 Moroccan sibs with hearing loss, visual defects, and skeletal abnormalities (STL6; <a href="/entry/620022">620022</a>), <a href="#3" class="mim-tip-reference" title="Faletra, F., D'Adamo, A. P., Bruno, I., Athanasakis, E., Biskup, S., Esposito, L., Gasparini, P. <strong>Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</strong> Am. J. Med. Genet. 164A: 42-47, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24273071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24273071</a>] [<a href="https://doi.org/10.1002/ajmg.a.36165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24273071">Faletra et al. (2014)</a> identified homozygosity for a 23-bp deletion (c.1176_1198del) in exon 23 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Gln393CysfsTer25). Their unaffected parents were heterozygous for the deletion, which was not found in 100 matched healthy controls or in the dbSNP or NHLBI-ESP databases. The sibs also exhibited moderate to severe intellectual disability that the authors suggested was likely due to variation in another gene in this consanguineous family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24273071" 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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<span class="mim-font">
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<strong>.0006 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, 1-BP DUP, 650C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147208658 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147208658;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=rs2147208658" 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=rs2147208658" 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=RCV002305621" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002305621" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002305621</a>
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<span class="mim-text-font">
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<p>In a 12-year-old Indian boy (ISDR R08-308A) with hearing loss, myopia, and epiphyseal abnormalities (STL6; <a href="/entry/620022">620022</a>), <a href="#5" class="mim-tip-reference" title="Hanson-Kahn, A., Li, B., Cohn, D. H., Nickerson, D. A., Bamshad, M. J., University of Washington Center for Mendelian Genomics, Hudgins, L. <strong>Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.</strong> Am. J. Med. Genet. 176A: 2887-2891, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30450842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30450842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30450842[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/10.1002/ajmg.a.40647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30450842">Hanson-Kahn et al. (2018)</a> identified homozygosity for a 1-bp duplication (c.650dupC, NM_001853.3) in exon 13 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon. The unaffected third-cousin parents and older sister were heterozygous for the duplication, which was not found in public SNP variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30450842" 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 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, ARG471TER
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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> rs747896279 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747896279;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/rs747896279?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=rs747896279" 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=rs747896279" 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=RCV000623697 OR RCV002279960 OR RCV003117430" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000623697, RCV002279960, RCV003117430" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000623697...</a>
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<p>In 2 sibs with hearing loss, myopia, and hypoplastic vitreous, 1 of whom also exhibited severe arthropathy (STL6; <a href="/entry/620022">620022</a>), <a href="#9" class="mim-tip-reference" title="Nixon, T. R. W., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W. P., Cobben, J., Snead, M. P. <strong>Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome--Expanding the phenotype.</strong> Am. J. Med. Genet. 179A: 1498-1506, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31090205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31090205</a>] [<a href="https://doi.org/10.1002/ajmg.a.61191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31090205">Nixon et al. (2019)</a> identified homozygosity for a c.1411C-T transition (c.1411C-T, NM_001853.3) in the COL9A3 gene, resulting in an arg471-to-ter (R471X) substitution. Their parents, who were heterozygous for the mutation, exhibited some features of the syndrome, including arthritis and myopia in the mother and arthritis and sensorineural hearing loss in the father. However, because these symptoms are not very specific and occur in the general population with considerable frequency, the authors concluded that there was no solid evidence for carrier manifestation of heterozygous COL9A3 null alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31090205" 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="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 STICKLER SYNDROME, TYPE VI</strong>
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</h4>
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COL9A3, ARG90TER
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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> rs763259234 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763259234;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/rs763259234?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=rs763259234" 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=rs763259234" 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=RCV002238720 OR RCV002279980 OR RCV003093927" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002238720, RCV002279980, RCV003093927" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002238720...</a>
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<p>In a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs (STL6; <a href="/entry/620022">620022</a>), <a href="#7" class="mim-tip-reference" title="Markova, T., Sparber, P., Borovikov, A., Nagornova, T., Dadali, E. <strong>Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.</strong> Molec. Genet. Genomic Med. 9: e1620, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33570243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33570243</a>] [<a href="https://doi.org/10.1002/mgg3.1620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33570243">Markova et al. (2021)</a> performed targeted sequencing of 166 genes associated with congenital skeletal disorders and identified compound heterozygosity for 2 nonsense mutations in the COL9A3 gene: a c.268C-T transition (c.268C-T, NM_001853.4) in exon 5, resulting in an arg90-to-ter (R90X) substitution, and a c.1729C-T transition in exon 30, resulting in an arg577-to-ter (R577X; <a href="#0009">120270.0009</a>) substitution. Sanger sequencing confirmed familial segregation; his unaffected sibs did not carry the COL9A3 variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33570243" 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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<strong>.0009 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, ARG577TER
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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> rs1201247953 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1201247953;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/rs1201247953?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=rs1201247953" 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=rs1201247953" 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=RCV002238721 OR RCV002279981 OR RCV002502051 OR RCV003093928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002238721, RCV002279981, RCV002502051, RCV003093928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002238721...</a>
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<p>For discussion of the c.1729C-T transition (c.1729C-T, NM_001853.4) in exon 30 of the COL9A3 gene, resulting in an arg577-to-ter (R577X) substitution, that was found in compound heterozygous state in a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs (STL6; <a href="/entry/620022">620022</a>) by <a href="#7" class="mim-tip-reference" title="Markova, T., Sparber, P., Borovikov, A., Nagornova, T., Dadali, E. <strong>Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.</strong> Molec. Genet. Genomic Med. 9: e1620, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33570243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33570243</a>] [<a href="https://doi.org/10.1002/mgg3.1620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33570243">Markova et al. (2021)</a>, see <a href="#0008">120270.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33570243" 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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COL9A3, 10-BP DEL, NT107 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1470627424;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1470627424</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1470627424 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1470627424;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/rs1470627424?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=rs1470627424" 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=rs1470627424" 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=RCV001968573 OR RCV002279978" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001968573, RCV002279978" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001968573...</a>
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<p>In a 28-year-old Iranian woman (family 1) with high myopia, vitreoretinal degeneration, and severe progressive sensorineural hearing loss (STL6; <a href="/entry/620022">620022</a>), <a href="#12" class="mim-tip-reference" title="Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M. <strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong> Orphanet J. Rare Dis. 17: 97, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35241111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35241111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35241111[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/10.1186/s13023-022-02244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35241111">Rad et al. (2022)</a> identified homozygosity for a 10-bp deletion (c.107_116del, NM_001853.3) in exon 2 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Pro36ArgfsTer49). Sanger sequencing confirmed familial segregation of the deletion, which was present in the gnomAD database in 2 carriers (minor allele frequency, 0.00001390) but was not found in the Iranome or GME databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35241111" 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>.0011 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, ARG402TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs989413835;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs989413835</a>)
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002280060 OR RCV003774919" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002280060, RCV003774919" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002280060...</a>
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<p>In 2 Iranian brothers (family 2), ages 65 and 57 years, with severely reduced vision due to progressive vitreoretinal degeneration, and profound sensorineural hearing loss (STL6; <a href="/entry/620022">620022</a>), <a href="#12" class="mim-tip-reference" title="Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M. <strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong> Orphanet J. Rare Dis. 17: 97, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35241111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35241111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35241111[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/10.1186/s13023-022-02244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35241111">Rad et al. (2022)</a> identified homozygosity for a c.1204C-T transition (c.1204C-T, NM_001853.3) in exon 23 of the COL9A3 gene, resulting in an arg402-to-ter (R402X) substitution. Sanger sequencing confirmed familial segregation of the deletion, which was not found in the Iranome, GME, 1000 Genomes Project, or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35241111" 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>.0012 STICKLER SYNDROME, TYPE VI</strong>
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COL9A3, 1-BP DEL, 355C
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002280061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002280061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002280061</a>
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<p>In an 11-year-old Iranian boy and his 3-year-old sister (family 3) with high myopia, sensorineural hearing loss, and spondyloepiphyseal dysplasia (STL6; <a href="/entry/620022">620022</a>), <a href="#12" class="mim-tip-reference" title="Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M. <strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong> Orphanet J. Rare Dis. 17: 97, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35241111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35241111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35241111[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/10.1186/s13023-022-02244-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35241111">Rad et al. (2022)</a> identified homozygosity for a 1-bp deletion (c.355delC, NM_001853.3) in exon 7 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Leu119SerfsTer9). Sanger sequencing confirmed familial segregation of the deletion, which was not found in the Iranome, GME, 1000 Genomes Project, or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35241111" 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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Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M.
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<strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong>
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Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655510</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10655510[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=10655510" 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.97.3.1212" target="_blank">Full Text</a>]
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Brewton, R. G., Wood, B. M., Ren, Z.-X., Gong, Y., Tiller, G. E., Warman, M. L., Lee, B., Horton, W. A., Olsen, B. R., Baker, J. R., Mayne, R.
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<strong>Molecular cloning of the alpha-3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.</strong>
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Genomics 30: 329-336, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.9870" target="_blank">Full Text</a>]
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Faletra, F., D'Adamo, A. P., Bruno, I., Athanasakis, E., Biskup, S., Esposito, L., Gasparini, P.
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<strong>Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</strong>
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Am. J. Med. Genet. 164A: 42-47, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24273071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24273071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24273071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36165" target="_blank">Full Text</a>]
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Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, T. N., Pearce-Kelling, S. E., Johnson, J., Aguirre, G. D., Acland, G. M.
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<strong>COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.</strong>
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Mammalian Genome 21: 398-408, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686772[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=20686772" 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/s00335-010-9276-4" target="_blank">Full Text</a>]
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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="Hanson-Kahn2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanson-Kahn, A., Li, B., Cohn, D. H., Nickerson, D. A., Bamshad, M. J., University of Washington Center for Mendelian Genomics, Hudgins, L.
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<strong>Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.</strong>
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Am. J. Med. Genet. 176A: 2887-2891, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30450842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30450842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30450842[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=30450842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.40647" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lohiniva2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lohiniva, J., Paassilta, P., Seppanen, U., Vierimaa, O., Kivirikko, S., Ala-Kokko, L.
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<strong>Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.</strong>
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Am. J. Med. Genet. 90: 216-222, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678658" 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="7" class="mim-anchor"></a>
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<a id="Markova2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Markova, T., Sparber, P., Borovikov, A., Nagornova, T., Dadali, E.
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<strong>Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.</strong>
|
|
Molec. Genet. Genomic Med. 9: e1620, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33570243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33570243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33570243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mgg3.1620" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Nakashima2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakashima, E., Kitoh, H., Maeda, K., Haga, N., Kosaki, R., Mabuchi,A., Nishimura, G., Ohashi, H., Ikegawa, S.
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<strong>Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.</strong>
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Am. J. Med. Genet. 132A: 181-184, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15551337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15551337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15551337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30411" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Nixon2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nixon, T. R. W., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W. P., Cobben, J., Snead, M. P.
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<strong>Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome--Expanding the phenotype.</strong>
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Am. J. Med. Genet. 179A: 1498-1506, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31090205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31090205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31090205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61191" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Paassilta1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L.
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<strong>COL9A3: a third locus for multiple epiphyseal dysplasia.</strong>
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Am. J. Hum. Genet. 64: 1036-1044, 1999. Note: Erratum: Am. J. Hum. Genet. 65: 1214 only, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090888" 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/10.1086/302328" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Paassilta2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L.
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<strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong>
|
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JAMA 285: 1843-1849, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11308397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11308397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11308397" 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/10.1001/jama.285.14.1843" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Rad2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M.
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<strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong>
|
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Orphanet J. Rare Dis. 17: 97, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35241111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35241111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35241111[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=35241111" 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/10.1186/s13023-022-02244-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Tiller1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tiller, G. E., Warman, M. L., Gong, Y., Knoll, J. H. M., Mayne, R., Brewton, R. G.
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<strong>Physical and linkage mapping of the gene for the alpha-3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.</strong>
|
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Cytogenet. Cell Genet. 81: 205-207, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9730604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000015031" target="_blank">Full Text</a>]
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</p>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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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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Marla J. F. O'Neill - updated : 08/29/2022
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</span>
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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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Ingrid M. Wentzensen - updated : 12/5/2014<br>Marla J. F. O'Neill - updated : 1/28/2005<br>Victor A. McKusick - updated : 4/16/2002<br>Victor A. McKusick - updated : 5/9/2000<br>Victor A. McKusick - updated : 2/22/2000<br>Victor A. McKusick - updated : 4/9/1999<br>Carol A. Bocchini - updated : 9/28/1998
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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 : 6/26/1987
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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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alopez : 08/29/2022
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</span>
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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 : 12/06/2017<br>carol : 08/05/2016<br>carol : 01/14/2016<br>carol : 12/5/2014<br>carol : 12/5/2014<br>alopez : 11/26/2012<br>ckniffin : 11/9/2010<br>carol : 6/11/2008<br>alopez : 5/31/2007<br>carol : 2/3/2005<br>terry : 1/28/2005<br>cwells : 11/5/2003<br>cwells : 5/1/2002<br>cwells : 4/30/2002<br>cwells : 4/24/2002<br>terry : 4/16/2002<br>alopez : 5/9/2000<br>carol : 3/21/2000<br>carol : 3/20/2000<br>mcapotos : 3/15/2000<br>mcapotos : 3/13/2000<br>terry : 2/22/2000<br>carol : 4/12/1999<br>terry : 4/9/1999<br>dkim : 12/9/1998<br>dkim : 9/29/1998<br>carol : 9/28/1998<br>mark : 1/15/1996<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>carol : 6/26/1987
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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 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> 120270
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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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COLLAGEN, TYPE IX, ALPHA-3; COL9A3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COL9A3</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: 20q13.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:62,816,213-62,841,159 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
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20q13.33
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Intervertebral disc disease, susceptibility to}
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
603932
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epiphyseal dysplasia, multiple, 3, with or without myopathy
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
600969
|
|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Stickler syndrome, type VI
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
620022
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
|
|
|
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</tbody>
|
|
</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>
|
|
</span>
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</h4>
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|
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
|
|
<span class="mim-text-font">
|
|
<p>Brewton et al. (1995) identified cDNA and genomic clones that encode the entire alpha-3 chain of type IX collagen. Also see COL9A1 (120210). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic amplification, Brewton et al. (1995) identified a SSCP that was used to map COL9A3 to 20q13.3 by linkage analysis. By fluorescence in situ hybridization, radiation hybrid mapping, and multipoint linkage analysis, Tiller et al. (1998) localized the COL9A3 gene to 20q13.3, 13 cM telomeric to D20S173. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Multiple Epiphyseal Dysplasia 3</em></strong></p><p>
|
|
Paassilta et al. (1999) identified a splice site mutation (120270.0001) in the COL9A3 gene in a family with multiple epiphyseal dysplasia (EDM3; 600969). Bonnemann et al. (2000) found a COL9A3 splice site mutation (120270.0002) in a family with multiple epiphyseal dysplasia and myopathy. </p><p>In a 3-generation Japanese family with EDM3, Nakashima et al. (2005) identified a heterozygous splice site mutation in the COL9A3 gene (120270.0004). Affected members had knee pain ('occasional' in females) but were of normal height and had no signs or symptoms of muscle weakness. Nakashima et al. (2005) commented that these cases were milder than those reported by Paassilta et al. (1999). </p><p><strong><em>Stickler Syndrome, Type VI</em></strong></p><p>
|
|
In 3 Moroccan sibs with hearing loss, visual defects, and skeletal abnormalities (STL6; 620022), Faletra et al. (2014) identified homozygosity for a 23-bp deletion in the COL9A3 gene (120270.0005). Their unaffected first-cousin parents were heterozygous for the deletion, which was not found in 100 matched healthy controls or in public variant databases. </p><p>In a 12-year-old Indian boy with hearing loss, myopia, and epiphyseal abnormalities, Hanson-Kahn et al. (2018) identified homozygosity for a 1-bp duplication in the COL9A3 gene (120270.0006). The mutation segregated with disease in the family and was not found in public SNP variant databases. </p><p>In 2 sibs with hearing loss, myopia, and hypoplastic vitreous, 1 of whom also exhibited severe arthropathy, Nixon et al. (2019) identified homozygosity for a nonsense mutation in the COL9A3 gene (R471X; 120270.0007). Their parents, who were heterozygous for the mutation, exhibited some features of Stickler syndrome, including arthritis and myopia in the mother, and arthritis and sensorineural hearing loss in the father. However, because these symptoms are not very specific and occur in the general population with considerable frequency, the authors concluded that there was no solid evidence for carrier manifestation of heterozygous COL9 null alleles. </p><p>In a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs, Markova et al. (2021) performed targeted sequencing in 166 genes associated with congenital skeletal disorders and identified compound heterozygosity for 2 nonsense mutations in the COL9A3 gene, R90X (120270.0008) and R577X (120270.0009). Sanger sequencing confirmed familial segregation. </p><p>By exome sequencing in 5 patients from 3 unrelated consanguineous Iranian families with high myopia, progressive moderate to profound sensorineural hearing loss, and variable skeletal changes, Rad et al. (2022) identified homozygosity for truncating mutations in the COL9A3 gene: a 10-bp deletion (120270.0010), a nonsense mutation (R402X; 120270.0011), and a 1-bp deletion (120270.0012). The authors reviewed previously reported cases of biallelic COL9A3 loss-of-function variants and noted that high myopia and moderate to severe hearing loss appeared to be consistent features among all cases, whereas skeletal findings were more variable. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between susceptibility to intervertebral disc disease (see 603932) and variation in the COL9A3 gene, see 120270.0003.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a canine model of oculoskeletal dysplasia in Labrador retrievers, termed drd1 (dwarfism with retinal dysplasia type 1), Goldstein et al. (2010) identified a homozygous 1-bp insertion in exon 1 of the COL9A3 gene that segregated with the phenotype. The mutation affects the COL3 domain of the gene. Northern blot analysis showed reduced RNA expression of the COL9A3 gene in affected retinas. The drd1 phenotype is characterized by short-limb dwarfism and severe ocular defects, such as vitreous dysplasia, retinal detachment, and cataracts. Heterozygous carrier dogs may exhibit a milder ocular phenotype, such as vitreal strands or retinal dysplasia, but have a normal appendicular skeleton. Goldstein et al. (2010) noted that the drd1 phenotype resembles human hereditary arthroophthalmopathies such as Stickler syndrome (108300), Kniest dysplasia (156550), and Marshall syndrome (154780). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, IVS2AS, A-T, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1600786629,
|
|
|
|
|
|
|
|
ClinVar: RCV000018676
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 4-generation family with multiple epiphyseal dysplasia (EDM3; 600969), Paassilta et al. (1999) identified an A-to-T transversion in an acceptor splice site of intron 2 of the COL9A3 gene. The pedigree pattern in this family was consistent with linkage to the COL9A3 locus. The mutation led to skipping of exon 3 and an in-frame deletion of 12 amino acid residues in the COL3 domain of the alpha-3 chain of collagen IX. This appeared to be similar to the splice site mutation found in COL9A2 that causes skipping of exon 3 of the alpha-2 chain of collagen IX (120260.0001). All affected family members experienced knee pain and stiffness during childhood. They had difficulty walking as a result of these symptoms, and some developed hip arthrosis and required surgical hip replacement after age 50 years. Affected adults had normal hands and no spinal symptoms; their height was normal and did not differ from that of unaffected family members. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, IVS2AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231367,
|
|
|
|
|
|
|
|
ClinVar: RCV000018679, RCV001090870, RCV004730850, RCV004795925
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bonnemann et al. (2000) studied a family with autosomal dominant multiple epiphyseal dysplasia (EDM3; 600969) affecting predominantly the knee joints and a mild proximal myopathy. Genetic linkage to the COL9A3 locus on chromosome 20q13.3 was established with a peak lod score of 3.87 for markers D20S93 and D20S164. RT-PCR performed on muscle biopsy revealed aberrant mRNA lacking exon 3, which predicted a protein lacking 12 amino acids from the COL3 domain of alpha-3(IX) collagen. Direct sequencing of genomic DNA confirmed the presence of a splice acceptor mutation in intron 2 of the COL9A3 gene only in affected family members. By electron microscopy, chondrocytes from epiphyseal cartilage exhibited dilated rough endoplasmic reticulum containing linear lamellae of alternating electron-dense and electron-lucent material, reflecting abnormal processing of mutant protein. Type IX collagen chains appeared normal in size and quantity but showed defective crosslinking by Western blot analysis. Bonnemann et al. (2000) suggested that the MED and mild myopathy was likely caused by a dominant-negative effect of the exon 3-skipping mutation. Patients with MED and a waddling gait but minimal radiographic hip involvement should be evaluated for a primary myopathy and a mutation in type IX collagen. The proband in the family reported by Bonnemann et al. (2000) was a 10-year-old boy referred for evaluation of proximal muscle weakness and mildly elevated serum creatine kinase. He walked at 1 year of age but at age 3 was noted to have difficulty walking and climbing stairs. He always had difficulty rising from the floor and sometimes used a one-handed Gowers maneuver. He tired easily, never ran well, and complained of knee pain. He had significant weakness of neck flexion, mild weakness of shoulder abduction and elbow extension, and proximal lower limb weakness (hamstrings weaker than quadriceps). His height was 145.5 cm (90th percentile), and his hands appeared normal. The family history was notable for childhood-onset osteoarthritis and complaints of knee pain and stiffness in his mother and several relatives. Eleven members were affected across 3 generations. By x-ray, the epiphyseal changes characteristic of MED were most marked in the knee joints, followed by the ankle joints. Affected family members likewise showed MED predominantly affecting the knee joints and sparing the hips. The proband's mother had weak neck flexors and minimal weakness of the proximal extremities. </p><p>Lohiniva et al. (2000) found this mutation in a propositus and 2 affected relatives of a 3-generation family with MED. The phenotype consisted mainly of epiphyseal dysplasia of the knees and other joints in childhood, and osteochondrosis dissecans and osteoarthritis of the knee joints in adulthood. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, ARG103TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61734651,
|
|
|
|
|
|
gnomAD: rs61734651,
|
|
|
|
|
|
ClinVar: RCV000018677, RCV000178853, RCV000834559, RCV002276557
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In Finland, Paassilta et al. (2001) investigated the frequency of sequence variations in the coding sequences and exon boundaries of the 3 collagen IX genes in 171 individuals with lumbar disc disease (see 603932) and 321 controls. Lumbar disc disease was evaluated clinically and by magnetic resonance imaging or computed tomography. They found an arg103-to-trp (R103W) substitution in the COL9A3 gene; the authors referred to the mutant allele as the trp3 allele. The trp3 allele was present in 12.2% of lumbar disc disease cases and in 4.7% of controls. It was estimated that the trp3 allele increased the risk of lumbar disc disease about 3-fold. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, IVS3DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1600786748,
|
|
|
|
|
|
|
|
ClinVar: RCV000018678, RCV005089273
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-generation Japanese family with multiple epiphyseal dysplasia (EDM3; 600969), Nakashima et al. (2005) identified a heterozygous G-to-A transition at +5 of the donor splice site in intron 3 of the COL9A3 gene. RNA analysis revealed that the mutation caused splicing variants that could skip exon 3 or exons 2 and 3, both predicted to cause in-frame deletions resulting in loss of the COL3 domain of the alpha-3 chain of collagen IX. Affected members had knee pain ('occasional' in females) but were of normal height and had no signs or symptoms of muscle weakness. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 STICKLER SYNDROME, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, 23-BP DEL, NT1176
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231470,
|
|
|
|
|
|
|
|
ClinVar: RCV002279937
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 Moroccan sibs with hearing loss, visual defects, and skeletal abnormalities (STL6; 620022), Faletra et al. (2014) identified homozygosity for a 23-bp deletion (c.1176_1198del) in exon 23 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Gln393CysfsTer25). Their unaffected parents were heterozygous for the deletion, which was not found in 100 matched healthy controls or in the dbSNP or NHLBI-ESP databases. The sibs also exhibited moderate to severe intellectual disability that the authors suggested was likely due to variation in another gene in this consanguineous family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 STICKLER SYNDROME, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, 1-BP DUP, 650C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2147208658,
|
|
|
|
|
|
|
|
ClinVar: RCV002305621
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old Indian boy (ISDR R08-308A) with hearing loss, myopia, and epiphyseal abnormalities (STL6; 620022), Hanson-Kahn et al. (2018) identified homozygosity for a 1-bp duplication (c.650dupC, NM_001853.3) in exon 13 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon. The unaffected third-cousin parents and older sister were heterozygous for the duplication, which was not found in public SNP variant databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 STICKLER SYNDROME, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL9A3, ARG471TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs747896279,
|
|
|
|
|
|
gnomAD: rs747896279,
|
|
|
|
|
|
ClinVar: RCV000623697, RCV002279960, RCV003117430
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with hearing loss, myopia, and hypoplastic vitreous, 1 of whom also exhibited severe arthropathy (STL6; 620022), Nixon et al. (2019) identified homozygosity for a c.1411C-T transition (c.1411C-T, NM_001853.3) in the COL9A3 gene, resulting in an arg471-to-ter (R471X) substitution. Their parents, who were heterozygous for the mutation, exhibited some features of the syndrome, including arthritis and myopia in the mother and arthritis and sensorineural hearing loss in the father. However, because these symptoms are not very specific and occur in the general population with considerable frequency, the authors concluded that there was no solid evidence for carrier manifestation of heterozygous COL9A3 null alleles. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 STICKLER SYNDROME, TYPE VI</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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COL9A3, ARG90TER
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<br />
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SNP: rs763259234,
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gnomAD: rs763259234,
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ClinVar: RCV002238720, RCV002279980, RCV003093927
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs (STL6; 620022), Markova et al. (2021) performed targeted sequencing of 166 genes associated with congenital skeletal disorders and identified compound heterozygosity for 2 nonsense mutations in the COL9A3 gene: a c.268C-T transition (c.268C-T, NM_001853.4) in exon 5, resulting in an arg90-to-ter (R90X) substitution, and a c.1729C-T transition in exon 30, resulting in an arg577-to-ter (R577X; 120270.0009) substitution. Sanger sequencing confirmed familial segregation; his unaffected sibs did not carry the COL9A3 variant. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0009 STICKLER SYNDROME, TYPE VI</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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COL9A3, ARG577TER
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<br />
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SNP: rs1201247953,
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gnomAD: rs1201247953,
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ClinVar: RCV002238721, RCV002279981, RCV002502051, RCV003093928
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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 c.1729C-T transition (c.1729C-T, NM_001853.4) in exon 30 of the COL9A3 gene, resulting in an arg577-to-ter (R577X) substitution, that was found in compound heterozygous state in a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs (STL6; 620022) by Markova et al. (2021), see 120270.0008. </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>.0010 STICKLER SYNDROME, TYPE VI</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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COL9A3, 10-BP DEL, NT107 ({dbSNP rs1470627424})
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<br />
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SNP: rs1470627424,
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gnomAD: rs1470627424,
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ClinVar: RCV001968573, RCV002279978
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 28-year-old Iranian woman (family 1) with high myopia, vitreoretinal degeneration, and severe progressive sensorineural hearing loss (STL6; 620022), Rad et al. (2022) identified homozygosity for a 10-bp deletion (c.107_116del, NM_001853.3) in exon 2 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Pro36ArgfsTer49). Sanger sequencing confirmed familial segregation of the deletion, which was present in the gnomAD database in 2 carriers (minor allele frequency, 0.00001390) but was not found in the Iranome or GME databases. </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>.0011 STICKLER SYNDROME, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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COL9A3, ARG402TER ({dbSNP rs989413835})
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<br />
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|
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ClinVar: RCV002280060, RCV003774919
|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 Iranian brothers (family 2), ages 65 and 57 years, with severely reduced vision due to progressive vitreoretinal degeneration, and profound sensorineural hearing loss (STL6; 620022), Rad et al. (2022) identified homozygosity for a c.1204C-T transition (c.1204C-T, NM_001853.3) in exon 23 of the COL9A3 gene, resulting in an arg402-to-ter (R402X) substitution. Sanger sequencing confirmed familial segregation of the deletion, which was not found in the Iranome, GME, 1000 Genomes Project, or gnomAD databases. </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>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 STICKLER SYNDROME, TYPE VI</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
COL9A3, 1-BP DEL, 355C
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<br />
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|
|
|
ClinVar: RCV002280061
|
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|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old Iranian boy and his 3-year-old sister (family 3) with high myopia, sensorineural hearing loss, and spondyloepiphyseal dysplasia (STL6; 620022), Rad et al. (2022) identified homozygosity for a 1-bp deletion (c.355delC, NM_001853.3) in exon 7 of the COL9A3 gene, causing a frameshift predicted to result in a premature termination codon (Leu119SerfsTer9). Sanger sequencing confirmed familial segregation of the deletion, which was not found in the Iranome, GME, 1000 Genomes Project, or gnomAD databases. </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>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnemann, C. G., Cox, G. F., Shapiro, F., Wu, J.-J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., Kunkel, L. M.
|
|
<strong>A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 1212-1217, 2000.
|
|
|
|
|
|
[PubMed: 10655510]
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|
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[Full Text: https://doi.org/10.1073/pnas.97.3.1212]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brewton, R. G., Wood, B. M., Ren, Z.-X., Gong, Y., Tiller, G. E., Warman, M. L., Lee, B., Horton, W. A., Olsen, B. R., Baker, J. R., Mayne, R.
|
|
<strong>Molecular cloning of the alpha-3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.</strong>
|
|
Genomics 30: 329-336, 1995.
|
|
|
|
|
|
[PubMed: 8586434]
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|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.9870]
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Faletra, F., D'Adamo, A. P., Bruno, I., Athanasakis, E., Biskup, S., Esposito, L., Gasparini, P.
|
|
<strong>Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</strong>
|
|
Am. J. Med. Genet. 164A: 42-47, 2014.
|
|
|
|
|
|
[PubMed: 24273071]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.36165]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, T. N., Pearce-Kelling, S. E., Johnson, J., Aguirre, G. D., Acland, G. M.
|
|
<strong>COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.</strong>
|
|
Mammalian Genome 21: 398-408, 2010.
|
|
|
|
|
|
[PubMed: 20686772]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00335-010-9276-4]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hanson-Kahn, A., Li, B., Cohn, D. H., Nickerson, D. A., Bamshad, M. J., University of Washington Center for Mendelian Genomics, Hudgins, L.
|
|
<strong>Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.</strong>
|
|
Am. J. Med. Genet. 176A: 2887-2891, 2018.
|
|
|
|
|
|
[PubMed: 30450842]
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|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.40647]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lohiniva, J., Paassilta, P., Seppanen, U., Vierimaa, O., Kivirikko, S., Ala-Kokko, L.
|
|
<strong>Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.</strong>
|
|
Am. J. Med. Genet. 90: 216-222, 2000.
|
|
|
|
|
|
[PubMed: 10678658]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Markova, T., Sparber, P., Borovikov, A., Nagornova, T., Dadali, E.
|
|
<strong>Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.</strong>
|
|
Molec. Genet. Genomic Med. 9: e1620, 2021.
|
|
|
|
|
|
[PubMed: 33570243]
|
|
|
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|
|
[Full Text: https://doi.org/10.1002/mgg3.1620]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakashima, E., Kitoh, H., Maeda, K., Haga, N., Kosaki, R., Mabuchi,A., Nishimura, G., Ohashi, H., Ikegawa, S.
|
|
<strong>Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.</strong>
|
|
Am. J. Med. Genet. 132A: 181-184, 2005.
|
|
|
|
|
|
[PubMed: 15551337]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30411]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nixon, T. R. W., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W. P., Cobben, J., Snead, M. P.
|
|
<strong>Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome--Expanding the phenotype.</strong>
|
|
Am. J. Med. Genet. 179A: 1498-1506, 2019.
|
|
|
|
|
|
[PubMed: 31090205]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61191]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L.
|
|
<strong>COL9A3: a third locus for multiple epiphyseal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 64: 1036-1044, 1999. Note: Erratum: Am. J. Hum. Genet. 65: 1214 only, 1999.
|
|
|
|
|
|
[PubMed: 10090888]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302328]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Paassilta, P., Lohiniva, J., Goring, H. H. H., Perala, M., Raina, S. S., Karppinen, J., Hakala, M., Palm, T., Kroger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L.
|
|
<strong>Identification of a novel common genetic risk factor for lumbar disk disease.</strong>
|
|
JAMA 285: 1843-1849, 2001.
|
|
|
|
|
|
[PubMed: 11308397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/jama.285.14.1843]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rad, A., Najafi, M., Suri, F., Abedini, S., Loum, S., Karimiani, E. G., Daftarian, N., Murphy, D., Doosti, M., Moghaddasi, A., Ahmadieh, H., Sabbaghi, H., Rajati, M., Hashemi, N., Vona, B., Schmidts, M.
|
|
<strong>Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.</strong>
|
|
Orphanet J. Rare Dis. 17: 97, 2022.
|
|
|
|
|
|
[PubMed: 35241111]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/s13023-022-02244-6]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tiller, G. E., Warman, M. L., Gong, Y., Knoll, J. H. M., Mayne, R., Brewton, R. G.
|
|
<strong>Physical and linkage mapping of the gene for the alpha-3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.</strong>
|
|
Cytogenet. Cell Genet. 81: 205-207, 1998.
|
|
|
|
|
|
[PubMed: 9730604]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000015031]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
|
|
|
|
</div>
|
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|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 08/29/2022<br>Ingrid M. Wentzensen - updated : 12/5/2014<br>Marla J. F. O'Neill - updated : 1/28/2005<br>Victor A. McKusick - updated : 4/16/2002<br>Victor A. McKusick - updated : 5/9/2000<br>Victor A. McKusick - updated : 2/22/2000<br>Victor A. McKusick - updated : 4/9/1999<br>Carol A. Bocchini - updated : 9/28/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</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 class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/26/1987
|
|
</span>
|
|
</div>
|
|
</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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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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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alopez : 08/29/2022<br>carol : 12/06/2017<br>carol : 08/05/2016<br>carol : 01/14/2016<br>carol : 12/5/2014<br>carol : 12/5/2014<br>alopez : 11/26/2012<br>ckniffin : 11/9/2010<br>carol : 6/11/2008<br>alopez : 5/31/2007<br>carol : 2/3/2005<br>terry : 1/28/2005<br>cwells : 11/5/2003<br>cwells : 5/1/2002<br>cwells : 4/30/2002<br>cwells : 4/24/2002<br>terry : 4/16/2002<br>alopez : 5/9/2000<br>carol : 3/21/2000<br>carol : 3/20/2000<br>mcapotos : 3/15/2000<br>mcapotos : 3/13/2000<br>terry : 2/22/2000<br>carol : 4/12/1999<br>terry : 4/9/1999<br>dkim : 12/9/1998<br>dkim : 9/29/1998<br>carol : 9/28/1998<br>mark : 1/15/1996<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>carol : 6/26/1987
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