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- *120210 - COLLAGEN, TYPE IX, ALPHA-1; COL9A1
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- OMIM
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<p>
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<span class="h4">*120210</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/120210">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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>
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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=ENSG00000112280;t=ENST00000357250" 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=1297" 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=120210" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000112280;t=ENST00000357250" 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_001377289,NM_001377290,NM_001377291,NM_001851,NM_078485,NR_165185,XM_011535429,XM_017010246,XM_017010247,XM_047418179,XM_047418180" 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_001851" 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=120210" 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=00367&isoform_id=00367_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/COL9A1" 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/30084,30088,3510535,3510536,7687907,15929966,39645587,73486664,73486666,119569207,119569208,119569209,119569210,119569211,119569212,193785087,296439373,767941873,1034648414,1034648417,1045860933,1788703460,1788703488,1788703496,2217359569,2217359571,2462605947,2462605949,2462605951,2462605953,2462605955" 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/P20849" 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=1297" 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=ENSG00000112280;t=ENST00000357250" 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=COL9A1" 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=COL9A1" 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+1297" 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/COL9A1" 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:1297" 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/1297" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000357250.11&hgg_start=70215061&hgg_end=70303084&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2217" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2217" 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/col9a1" 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=120210[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=120210[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/COL9A1/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/ENSG00000112280" 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=COL9A1" 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=COL9A1" 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=COL9A1" 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=COL9A1&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/PA26733" 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:2217" 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:88465" 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/COL9A1#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:88465" 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/1297/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1297" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000251;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000251 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000603;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000603 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001066;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001066 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2410" 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:1297" 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=COL9A1&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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120210
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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-1; COL9A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
COLLAGEN, CARTILAGE-SPECIFIC SHORT<br />
|
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ALPHA-1(IX) COLLAGEN CHAIN<br />
|
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CARTILAGE-SPECIFIC SHORT COLLAGEN
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COL9A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL9A1</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>
|
|
Cytogenetic location: <a href="/geneMap/6/632?start=-3&limit=10&highlight=632">6q13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:70215061-70303084&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:70,215,061-70,303,084</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614135,614134" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/632?start=-3&limit=10&highlight=632">
|
|
6q13
|
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</a>
|
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</span>
|
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</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
?Epiphyseal dysplasia, multiple, 6
|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614135"> 614135 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
|
Stickler syndrome, type IV
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Type II collagen (<a href="/entry/120140">120140</a>) represents about 85% of the collagen of hyaline cartilage. In addition to it, there are several minor collagens. Using a cDNA library made from chick embryo sternal cartilage mRNA, <a href="#15" class="mim-tip-reference" title="Ninomiya, Y., Olsen, B. R. <strong>Synthesis and characterization of cDNA encoding a cartilage-specific short collagen.</strong> Proc. Nat. Acad. Sci. 81: 3014-3018, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6328487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6328487</a>] [<a href="https://doi.org/10.1073/pnas.81.10.3014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6328487">Ninomiya and Olsen (1984)</a> isolated and characterized a cDNA that codes for one of these collagens. The unusual qualities of the molecule for which it codes included a length of only about half that of pro-alpha-1 chains and the presence of short, noncollagenous peptides containing cysteinyl residues separating its 3 collagenous domains. The cartilage-specific collagen was enumerated as type IX. Its function was unknown (<a href="#10" class="mim-tip-reference" title="Mayne, R., van der Rest, M., Ninomiya, Y., Olsen, B. R. <strong>The structure of type IX collagen.</strong> Ann. N.Y. Acad. Sci. 460: 38-46, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3868958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3868958</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1985.tb51155.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3868958">Mayne et al., 1985</a>). The triple helix of type IX collagen is composed of 3 genetically distinct polypeptide subunits--alpha-1(IX), alpha-2(IX), and alpha-3(IX). These are the products of genes whose exon structure is different from that of fibrillar collagens. Type IX collagen is also a proteoglycan. Chondroitin sulfate and dermatan sulfate chains are covalently linked to the alpha-2(IX) chain (<a href="/entry/120260">120260</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6328487+3868958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="McCormick, D., van der Rest, M., Goodship, J., Lozano, G., Ninomiya, T., Olsen, B. R. <strong>Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.</strong> Proc. Nat. Acad. Sci. 84: 4044-4048, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3473493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3473493</a>] [<a href="https://doi.org/10.1073/pnas.84.12.4044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3473493">McCormick et al. (1987)</a> described the structure of the glycosaminoglycan attachment site of alpha-1(IX) collagen. By a combination of cDNA and peptide sequencing, they showed that the attachment region contains the sequence gly-ser-ala-asp, located within the noncollagenous domain of the alpha-2(IX) chain. The exon coding for the attachment site in the alpha-2 gene is 48 bp long, whereas the homologous alpha-1 exon is 33 bp long. The extra sequence in the alpha-2 molecule provides an explanation for the kink observed at that site in type IX molecules when examined by electron microscopy. The inserted block of amino acid residues also provides the alpha-2 chain with a serine residue, not present in alpha-1 chains, that serves as attachment site for a glycosaminoglycan side chain. <a href="#3" class="mim-tip-reference" title="Eyre, D. R., Apon, S., Wu, J.-J., Ericsson, L. H., Walsh, K. A. <strong>Collagen type IX: evidence for covalent linkages to type II collagen in cartilage.</strong> FEBS Lett. 220: 337-341, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3609327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3609327</a>] [<a href="https://doi.org/10.1016/0014-5793(87)80842-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3609327">Eyre et al. (1987)</a> concluded that type IX collagen molecules are covalently crosslinked in cartilage to molecules of type II collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3609327+3473493" 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>COMP (<a href="/entry/600310">600310</a>) is a pentameric glycoprotein found in the extracellular matrix of cartilage, tendons, and ligaments. Using rotary shadowing electron microscopy and immobilized proteins, <a href="#6" class="mim-tip-reference" title="Holden, P., Meadows, R. S., Chapman, K. L., Grant, M. E., Kadler, K. E., Briggs, M. D. <strong>Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.</strong> J. Biol. Chem. 276: 6046-6055, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11087755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11087755</a>] [<a href="https://doi.org/10.1074/jbc.M009507200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11087755">Holden et al. (2001)</a> characterized the interaction between purified chick sternal cartilage type IX collagen and purified fetal bovine Comp or the isolated human COMP C-terminal domain. They identified a collagen-binding site between residues 579 and 595 of the C-terminal domain of COMP that bound each of 4 noncollagenous domains in collagen IX. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11087755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Kimura, T., Mattei, M.-G., Stevens, J. W., Goldring, M. B., Ninomiya, Y., Olsen, B. R. <strong>Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha1(IX) gene on the human chromosome 6.</strong> Europ. J. Biochem. 179: 71-78, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2465149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2465149</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1989.tb14522.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2465149">Kimura et al. (1989)</a> described the primary structure of type IX collagen of rat and human based on cloning and sequencing of cDNA from cDNA libraries. By in situ hybridization, they demonstrated that the COL9A1 gene is located in the proximal portion of the long arm of chromosome 6 (6q12-q14), probably at 6q13. By analysis of a panel of somatic cell hybrids containing various parts of chromosome 6, <a href="#1" class="mim-tip-reference" title="Boyle, J. M., Hey, Y., Myers, K., Stern, P. L., Grzeschik, F.-H., Ikehara, Y., Misumi, Y., Fox, M. <strong>Regional localization of a trophoblast antigen-related sequence and 16 other sequences to human chromosome 6q using somatic cell hybrids.</strong> Genomics 12: 693-698, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1572643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1572643</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90296-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1572643">Boyle et al. (1992)</a> confirmed the assignment to 6q12-q14. <a href="#12" class="mim-tip-reference" title="Muragaki, Y., Nishimura, I., Henney, A., Ninomiya, Y., Olsen, B. R. <strong>The alpha-1(IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA.</strong> Proc. Nat. Acad. Sci. 87: 2400-2404, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1690886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1690886</a>] [<a href="https://doi.org/10.1073/pnas.87.7.2400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1690886">Muragaki et al. (1990)</a> demonstrated that mouse and human RNAs contain 2 types of COL9A1 transcripts based on the presence of 2 translation start codons located within 2 alternative exons. <a href="#17" class="mim-tip-reference" title="Warman, M. L., Tiller, G. E., Polumbo, P. A., Seldin, M. F., Rochelle, J. M., Knoll, J. H. M., Cheng, S.-D., Olsen, B. R. <strong>Physical and linkage mapping of the human and murine genes for the alpha-1 chain of type IX collagen (COL9A1).</strong> Genomics 17: 694-698, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244386</a>] [<a href="https://doi.org/10.1006/geno.1993.1391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244386">Warman et al. (1993)</a> confirmed the mapping of COL9A1 to 6q12-q13 by fluorescence in situ hybridization and, using an interspecific backcross panel, mapped murine Col9a1 to mouse chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244386+1572643+1690886+2465149" 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 6</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L. <strong>A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.</strong> Am. J. Hum. Genet. 69: 969-980, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11565064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11565064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11565064[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/10.1086/324023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11565064">Czarny-Ratajczak et al. (2001)</a> identified a heterozygous mutation in the COL9A1 gene (<a href="#0001">120210.0001</a>) in affected members of a family with multiple epiphyseal dysplasia-6 (EDM6; <a href="/entry/614135">614135</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11565064" 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 IV</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S. <strong>A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.</strong> Am. J. Hum. Genet. 79: 449-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16909383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16909383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16909383[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/10.1086/506478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16909383">Van Camp et al. (2006)</a> reported an autosomal recessive form of Stickler syndrome (STL4; <a href="/entry/614134">614134</a>) caused by mutation in the COL9A1 gene. They described a family of Moroccan origin in which 4 children, offspring of consanguineous parents (5th degree relatives), had features of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. <a href="#16" class="mim-tip-reference" title="Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S. <strong>A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.</strong> Am. J. Hum. Genet. 79: 449-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16909383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16909383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16909383[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/10.1086/506478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16909383">Van Camp et al. (2006)</a> considered the COL9A1 gene to be a candidate gene on the basis of structural association with collagen types II (<a href="/entry/120140">120140</a>) and IX (see <a href="/entry/120210">120210</a>) and because of its high expression in the human inner ear indicated by cDNA microarray. Mutation analysis of the coding region of the COL9A1 gene showed a homozygous arg295-to-stop mutation (R295X; <a href="#0002">120210.0002</a>) in the 4 affected children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16909383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 consanguineous families segregating autosomal recessive Stickler syndrome, <a href="#14" class="mim-tip-reference" title="Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I. <strong>Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.</strong> Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21421862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21421862</a>] [<a href="https://doi.org/10.1167/iovs.10-7128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21421862">Nikopoulos et al. (2011)</a> identified homozygous mutations in the COL9A1 gene. One affected boy in a Moroccan family was homozygous for the R295X mutation, and 2 affected sisters in a Turkish family were homozygous for a novel nonsense mutation (R295X; <a href="#0003">120210.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21421862" 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>Other Associations</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Loughlin, J., Mustafa, Z., Dowling, B., Southam, L., Marcelline, L., Raina, S. S., Ala-Kokko, L., Chapman, K. <strong>Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6.</strong> Europ. J. Hum. Genet. 10: 562-568, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12173034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12173034</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12173034">Loughlin et al. (2002)</a> performed finer linkage mapping of a primary hip osteoarthritis susceptibility locus (<a href="/entry/165720">165720</a>) on chromosome 6 in affected sib pair families and defined an 11.4 cM female-specific interval flanked by markers D6S452 and 509-8B2, which map between 70.5 to 81.9 cM from the 6p telomere at 6p12.3-q13. As the COL9A1 gene maps within this interval, it was considered a logical candidate gene for osteoarthritis susceptibility. <a href="#9" class="mim-tip-reference" title="Loughlin, J., Mustafa, Z., Dowling, B., Southam, L., Marcelline, L., Raina, S. S., Ala-Kokko, L., Chapman, K. <strong>Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6.</strong> Europ. J. Hum. Genet. 10: 562-568, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12173034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12173034</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12173034">Loughlin et al. (2002)</a> identified and genotyped 20 common single-nucleotide polymorphisms (SNPs) from within COL9A1 in 146 probands from the female sib pair families and in 215 age-matched unrelated female controls. None of the SNP alleles or genotypes were associated with osteoarthritis and there was no significant difference in the frequency of common SNP haplotypes between the probands and the controls. This comprehensive association analysis did not produce any evidence supporting COL9A1 as the primary osteoarthritis susceptibility locus mapped to chromosome 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12173034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Nakata, K., Ono, K., Miyazaki, J., Olsen, B. R., Muragaki, Y., Adachi, E., Yamamura, K., Kimura, T. <strong>Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha-1(IX) collagen chains with a central deletion.</strong> Proc. Nat. Acad. Sci. 90: 2870-2874, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464901</a>] [<a href="https://doi.org/10.1073/pnas.90.7.2870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464901">Nakata et al. (1993)</a> generated transgenic mice expressing a truncated alpha-1(IX) chain, which was expected to interfere with stable triple helix formation and act as a trans-dominant mutation. Mice heterozygous for the transgene developed osteoarthritis in the articular cartilage of knee joints, while mice homozygous for the mutation developed mild chondrodysplasia as well. The phenotypic severity correlated well with the level of transgene expression. <a href="#7" class="mim-tip-reference" title="Jacenko, O., Olsen, B. R., Warman, M. L. <strong>Of mice and men: heritable skeletal disorders. (Editorial)</strong> Am. J. Hum. Genet. 54: 163-168, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304335</a>]" pmid="8304335">Jacenko et al. (1994)</a> interpreted these findings in mice with a dominant-negative mutation in Col9a1, as well as the observation that mice with a homozygous null mutation in the gene have an unexpectedly mild phenotype, as indicating that type IX collagen is not essential for the assembly of the cartilage extracellular matrix, although it may be important in the maintenance of structural integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8464901+8304335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Fassler, R., Schnegelsberg, P. N. J., Dausman, J., Shinya, T., Muragaki, Y., McCarthy, M. T., Olsen, B. R., Jaenisch, R. <strong>Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease</strong> Proc. Nat. Acad. Sci. 91: 5070-5074, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197187</a>] [<a href="https://doi.org/10.1073/pnas.91.11.5070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197187">Fassler et al. (1994)</a> found that mice with 'knockout' of the Col9a1 gene did not produce alpha-1(IX) mRNA or polypeptides and were born with no conspicuous skeletal abnormalities but postnatally developed early-onset osteoarthritis. <a href="#5" class="mim-tip-reference" title="Hagg, R., Hedbom, E., Mollers, U., Aszodi, A., Fassler, R., Bruckner, P. <strong>Absence of the alpha-1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice.</strong> J. Biol. Chem. 272: 20650-20654, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9252382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9252382</a>] [<a href="https://doi.org/10.1074/jbc.272.33.20650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9252382">Hagg et al. (1997)</a> found that deficiency of the alpha-1 chain led to a functional knockout of all polypeptides of collagen IX, even though the Col9a2 and the Col9a3 genes were normally transcribed. Therefore, they concluded that synthesis of alpha-1(IX) polypeptides is essential for the assembly of heterotrimeric collagen IX molecules. Surprisingly, cartilage fibrils of all shapes and banding patterns found in normal newborn, adolescent, or adult mice were formed in transgenic animals, although they lacked collagen IX. <a href="#5" class="mim-tip-reference" title="Hagg, R., Hedbom, E., Mollers, U., Aszodi, A., Fassler, R., Bruckner, P. <strong>Absence of the alpha-1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice.</strong> J. Biol. Chem. 272: 20650-20654, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9252382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9252382</a>] [<a href="https://doi.org/10.1074/jbc.272.33.20650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9252382">Hagg et al. (1997)</a> concluded that collagen IX is not essential, and may be functionally redundant, for fibrillogenesis in cartilage in vivo. 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<p>In a proband with autosomal dominant multiple epiphyseal dysplasia (EDM6; <a href="/entry/614135">614135</a>), <a href="#2" class="mim-tip-reference" title="Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L. <strong>A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.</strong> Am. J. Hum. Genet. 69: 969-980, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11565064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11565064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11565064[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/10.1086/324023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11565064">Czarny-Ratajczak et al. (2001)</a> identified insertion of a T nucleotide at the donor splice site of exon 8 (IVS8+3) of the COL9A1 gene. The same insertion was found in his affected mother but not in his unaffected sister or in any of 600 control chromosomes tested. RNA was isolated from lymphoblasts of the proband and was reverse transcribed, PCR amplified, and analyzed on agarose gels. Two major bands were noted, one corresponding to the control band and one approximately 150 bp shorter. One or more minor bands were also seen. Sequencing of these bands indicated that there were at least 3 splicing defects leading to in-frame deletions of the COL3 domain of the alpha1(IX) chain: one lacking sequences for exon 8 (25 amino acids), one lacking sequences for exon 10 (21 amino acids), and one lacking sequences for both exons 8 and 10 (46 amino acids). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11565064" 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=RCV000018735 OR RCV001420255" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018735, RCV001420255" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018735...</a>
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<p>In 4 affected sibs in a consanguineous Moroccan family segregating Stickler syndrome type IV (STL4; <a href="/entry/614134">614134</a>), <a href="#16" class="mim-tip-reference" title="Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S. <strong>A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.</strong> Am. J. Hum. Genet. 79: 449-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16909383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16909383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16909383[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/10.1086/506478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16909383">Van Camp et al. (2006)</a> identified homozygosity for an arg295-to-stop (R295X) mutation in exon 9 the COL9A1 gene. The parents and 4 unaffected children were heterozygous carriers of the mutation. Two unaffected children were homozygous for the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16909383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I. <strong>Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.</strong> Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21421862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21421862</a>] [<a href="https://doi.org/10.1167/iovs.10-7128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21421862">Nikopoulos et al. (2011)</a> identified homozygosity for a c.883C-T transition in the COL9A1 gene, resulting in a R295X mutation, in a boy with Stickler syndrome, who was born to consanguineous Moroccan parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21421862" 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">rs189754995 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs189754995;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=rs189754995" 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=rs189754995" 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=RCV000148951 OR RCV001382407 OR RCV002277296" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000148951, RCV001382407, RCV002277296" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000148951...</a>
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<p>In 2 affected sisters in a consanguineous Turkish family segregating Sticker syndrome (STL4; <a href="/entry/614134">614134</a>), <a href="#14" class="mim-tip-reference" title="Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I. <strong>Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.</strong> Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21421862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21421862</a>] [<a href="https://doi.org/10.1167/iovs.10-7128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21421862">Nikopoulos et al. (2011)</a> identified homozygosity for a c.1519C-T transition in the COL9A1 gene, resulting in an arg507-to-ter (R507X) substitution. The unaffected parents and 2 unaffected sisters were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21421862" 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://doi.org/10.1073/pnas.84.12.4044" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.90.7.2870" target="_blank">Full Text</a>]
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Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I.
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<strong>Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.</strong>
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Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21421862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21421862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21421862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.10-7128" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6328487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6328487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6328487" 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.81.10.3014" target="_blank">Full Text</a>]
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Van Camp2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S.
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<strong>A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.</strong>
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Am. J. Hum. Genet. 79: 449-457, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16909383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16909383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16909383[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=16909383" 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/10.1086/506478" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Warman1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warman, M. L., Tiller, G. E., Polumbo, P. A., Seldin, M. F., Rochelle, J. M., Knoll, J. H. M., Cheng, S.-D., Olsen, B. R.
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<strong>Physical and linkage mapping of the human and murine genes for the alpha-1 chain of type IX collagen (COL9A1).</strong>
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Genomics 17: 694-698, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1391" target="_blank">Full Text</a>]
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</p>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ingrid M. Wentzensen - updated : 12/5/2014
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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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Patricia A. Hartz - updated : 10/17/2013<br>Victor A. McKusick - updated : 8/23/2006<br>Michael B. Petersen - updated : 8/18/2003<br>Deborah L. Stone - updated : 1/14/2002<br>Victor A. McKusick - updated : 10/9/1997
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</span>
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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 : 6/4/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/13/2017
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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 : 12/09/2014<br>carol : 12/5/2014<br>alopez : 10/17/2013<br>carol : 8/4/2011<br>carol : 8/4/2011<br>wwang : 2/7/2011<br>terry : 9/9/2010<br>carol : 4/2/2008<br>alopez : 8/29/2006<br>terry : 8/23/2006<br>joanna : 11/29/2004<br>cwells : 8/18/2003<br>carol : 2/1/2002<br>carol : 1/14/2002<br>carol : 1/14/2002<br>dkim : 9/11/1998<br>dkim : 7/24/1998<br>dholmes : 10/31/1997<br>mark : 10/16/1997<br>terry : 10/9/1997<br>joanna : 4/18/1996<br>carol : 2/9/1995<br>jason : 6/7/1994<br>mimadm : 3/28/1994<br>carol : 9/21/1993<br>carol : 5/21/1993<br>carol : 6/2/1992
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</span>
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</div>
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<div class="container visible-print-block">
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<span class="mim-font">
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<strong>*</strong> 120210
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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-1; COL9A1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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COLLAGEN, CARTILAGE-SPECIFIC SHORT<br />
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ALPHA-1(IX) COLLAGEN CHAIN<br />
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CARTILAGE-SPECIFIC SHORT COLLAGEN
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</span>
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</h4>
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</div>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COL9A1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 6q13
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:70,215,061-70,303,084 </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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<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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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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6q13
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<td>
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<span class="mim-font">
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?Epiphyseal dysplasia, multiple, 6
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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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614135
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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Stickler syndrome, type IV
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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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614134
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</tbody>
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</table>
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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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Type II collagen (120140) represents about 85% of the collagen of hyaline cartilage. In addition to it, there are several minor collagens. Using a cDNA library made from chick embryo sternal cartilage mRNA, Ninomiya and Olsen (1984) isolated and characterized a cDNA that codes for one of these collagens. The unusual qualities of the molecule for which it codes included a length of only about half that of pro-alpha-1 chains and the presence of short, noncollagenous peptides containing cysteinyl residues separating its 3 collagenous domains. The cartilage-specific collagen was enumerated as type IX. Its function was unknown (Mayne et al., 1985). The triple helix of type IX collagen is composed of 3 genetically distinct polypeptide subunits--alpha-1(IX), alpha-2(IX), and alpha-3(IX). These are the products of genes whose exon structure is different from that of fibrillar collagens. Type IX collagen is also a proteoglycan. Chondroitin sulfate and dermatan sulfate chains are covalently linked to the alpha-2(IX) chain (120260). </p><p>McCormick et al. (1987) described the structure of the glycosaminoglycan attachment site of alpha-1(IX) collagen. By a combination of cDNA and peptide sequencing, they showed that the attachment region contains the sequence gly-ser-ala-asp, located within the noncollagenous domain of the alpha-2(IX) chain. The exon coding for the attachment site in the alpha-2 gene is 48 bp long, whereas the homologous alpha-1 exon is 33 bp long. The extra sequence in the alpha-2 molecule provides an explanation for the kink observed at that site in type IX molecules when examined by electron microscopy. The inserted block of amino acid residues also provides the alpha-2 chain with a serine residue, not present in alpha-1 chains, that serves as attachment site for a glycosaminoglycan side chain. Eyre et al. (1987) concluded that type IX collagen molecules are covalently crosslinked in cartilage to molecules of type II collagen. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>COMP (600310) is a pentameric glycoprotein found in the extracellular matrix of cartilage, tendons, and ligaments. Using rotary shadowing electron microscopy and immobilized proteins, Holden et al. (2001) characterized the interaction between purified chick sternal cartilage type IX collagen and purified fetal bovine Comp or the isolated human COMP C-terminal domain. They identified a collagen-binding site between residues 579 and 595 of the C-terminal domain of COMP that bound each of 4 noncollagenous domains in collagen IX. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kimura et al. (1989) described the primary structure of type IX collagen of rat and human based on cloning and sequencing of cDNA from cDNA libraries. By in situ hybridization, they demonstrated that the COL9A1 gene is located in the proximal portion of the long arm of chromosome 6 (6q12-q14), probably at 6q13. By analysis of a panel of somatic cell hybrids containing various parts of chromosome 6, Boyle et al. (1992) confirmed the assignment to 6q12-q14. Muragaki et al. (1990) demonstrated that mouse and human RNAs contain 2 types of COL9A1 transcripts based on the presence of 2 translation start codons located within 2 alternative exons. Warman et al. (1993) confirmed the mapping of COL9A1 to 6q12-q13 by fluorescence in situ hybridization and, using an interspecific backcross panel, mapped murine Col9a1 to mouse chromosome 1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Multiple Epiphyseal Dysplasia 6</em></strong></p><p>
|
|
Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001) in affected members of a family with multiple epiphyseal dysplasia-6 (EDM6; 614135). </p><p><strong><em>Stickler Syndrome Type IV</em></strong></p><p>
|
|
Van Camp et al. (2006) reported an autosomal recessive form of Stickler syndrome (STL4; 614134) caused by mutation in the COL9A1 gene. They described a family of Moroccan origin in which 4 children, offspring of consanguineous parents (5th degree relatives), had features of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Van Camp et al. (2006) considered the COL9A1 gene to be a candidate gene on the basis of structural association with collagen types II (120140) and IX (see 120210) and because of its high expression in the human inner ear indicated by cDNA microarray. Mutation analysis of the coding region of the COL9A1 gene showed a homozygous arg295-to-stop mutation (R295X; 120210.0002) in the 4 affected children. </p><p>In affected members of 2 consanguineous families segregating autosomal recessive Stickler syndrome, Nikopoulos et al. (2011) identified homozygous mutations in the COL9A1 gene. One affected boy in a Moroccan family was homozygous for the R295X mutation, and 2 affected sisters in a Turkish family were homozygous for a novel nonsense mutation (R295X; 120210.0003). </p><p><strong><em>Other Associations</em></strong></p><p>
|
|
Loughlin et al. (2002) performed finer linkage mapping of a primary hip osteoarthritis susceptibility locus (165720) on chromosome 6 in affected sib pair families and defined an 11.4 cM female-specific interval flanked by markers D6S452 and 509-8B2, which map between 70.5 to 81.9 cM from the 6p telomere at 6p12.3-q13. As the COL9A1 gene maps within this interval, it was considered a logical candidate gene for osteoarthritis susceptibility. Loughlin et al. (2002) identified and genotyped 20 common single-nucleotide polymorphisms (SNPs) from within COL9A1 in 146 probands from the female sib pair families and in 215 age-matched unrelated female controls. None of the SNP alleles or genotypes were associated with osteoarthritis and there was no significant difference in the frequency of common SNP haplotypes between the probands and the controls. This comprehensive association analysis did not produce any evidence supporting COL9A1 as the primary osteoarthritis susceptibility locus mapped to chromosome 6. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nakata et al. (1993) generated transgenic mice expressing a truncated alpha-1(IX) chain, which was expected to interfere with stable triple helix formation and act as a trans-dominant mutation. Mice heterozygous for the transgene developed osteoarthritis in the articular cartilage of knee joints, while mice homozygous for the mutation developed mild chondrodysplasia as well. The phenotypic severity correlated well with the level of transgene expression. Jacenko et al. (1994) interpreted these findings in mice with a dominant-negative mutation in Col9a1, as well as the observation that mice with a homozygous null mutation in the gene have an unexpectedly mild phenotype, as indicating that type IX collagen is not essential for the assembly of the cartilage extracellular matrix, although it may be important in the maintenance of structural integrity. </p><p>Fassler et al. (1994) found that mice with 'knockout' of the Col9a1 gene did not produce alpha-1(IX) mRNA or polypeptides and were born with no conspicuous skeletal abnormalities but postnatally developed early-onset osteoarthritis. Hagg et al. (1997) found that deficiency of the alpha-1 chain led to a functional knockout of all polypeptides of collagen IX, even though the Col9a2 and the Col9a3 genes were normally transcribed. Therefore, they concluded that synthesis of alpha-1(IX) polypeptides is essential for the assembly of heterotrimeric collagen IX molecules. Surprisingly, cartilage fibrils of all shapes and banding patterns found in normal newborn, adolescent, or adult mice were formed in transgenic animals, although they lacked collagen IX. Hagg et al. (1997) concluded that collagen IX is not essential, and may be functionally redundant, for fibrillogenesis in cartilage in vivo. The protein is required, however, for long-term tissue stability, presumably by mediating interactions between fibrillar and extrafibrillar macromolecules. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (1 family)</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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COL9A1, 1-BP INS, IVS8, T, +3
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<br />
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SNP: rs672601329,
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gnomAD: rs672601329,
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ClinVar: RCV000018734, RCV001052368, RCV002476989, RCV004751218
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a proband with autosomal dominant multiple epiphyseal dysplasia (EDM6; 614135), Czarny-Ratajczak et al. (2001) identified insertion of a T nucleotide at the donor splice site of exon 8 (IVS8+3) of the COL9A1 gene. The same insertion was found in his affected mother but not in his unaffected sister or in any of 600 control chromosomes tested. RNA was isolated from lymphoblasts of the proband and was reverse transcribed, PCR amplified, and analyzed on agarose gels. Two major bands were noted, one corresponding to the control band and one approximately 150 bp shorter. One or more minor bands were also seen. Sequencing of these bands indicated that there were at least 3 splicing defects leading to in-frame deletions of the COL3 domain of the alpha1(IX) chain: one lacking sequences for exon 8 (25 amino acids), one lacking sequences for exon 10 (21 amino acids), and one lacking sequences for both exons 8 and 10 (46 amino acids). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 STICKLER SYNDROME, TYPE IV</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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COL9A1, ARG295TER
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<br />
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SNP: rs121912931,
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ClinVar: RCV000018735, RCV001420255
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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 4 affected sibs in a consanguineous Moroccan family segregating Stickler syndrome type IV (STL4; 614134), Van Camp et al. (2006) identified homozygosity for an arg295-to-stop (R295X) mutation in exon 9 the COL9A1 gene. The parents and 4 unaffected children were heterozygous carriers of the mutation. Two unaffected children were homozygous for the wildtype allele. </p><p>Nikopoulos et al. (2011) identified homozygosity for a c.883C-T transition in the COL9A1 gene, resulting in a R295X mutation, in a boy with Stickler syndrome, who was born to consanguineous Moroccan parents. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 STICKLER SYNDROME, TYPE IV</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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COL9A1, ARG507TER
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<br />
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SNP: rs189754995,
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ClinVar: RCV000148951, RCV001382407, RCV002277296
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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 2 affected sisters in a consanguineous Turkish family segregating Sticker syndrome (STL4; 614134), Nikopoulos et al. (2011) identified homozygosity for a c.1519C-T transition in the COL9A1 gene, resulting in an arg507-to-ter (R507X) substitution. The unaffected parents and 2 unaffected sisters were heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Boyle, J. M., Hey, Y., Myers, K., Stern, P. L., Grzeschik, F.-H., Ikehara, Y., Misumi, Y., Fox, M.
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<strong>Regional localization of a trophoblast antigen-related sequence and 16 other sequences to human chromosome 6q using somatic cell hybrids.</strong>
|
|
Genomics 12: 693-698, 1992.
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[PubMed: 1572643]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90296-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Czarny-Ratajczak, M., Lohiniva, J., Rogala, P., Kozlowski, K., Perala, M., Carter, L., Spector, T. D., Kolodziej, L., Seppanen, U., Glazar, R., Krolewski, J., Latos-Bielenska, A., Ala-Kokko, L.
|
|
<strong>A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.</strong>
|
|
Am. J. Hum. Genet. 69: 969-980, 2001.
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[PubMed: 11565064]
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[Full Text: https://doi.org/10.1086/324023]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Eyre, D. R., Apon, S., Wu, J.-J., Ericsson, L. H., Walsh, K. A.
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|
<strong>Collagen type IX: evidence for covalent linkages to type II collagen in cartilage.</strong>
|
|
FEBS Lett. 220: 337-341, 1987.
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[PubMed: 3609327]
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[Full Text: https://doi.org/10.1016/0014-5793(87)80842-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fassler, R., Schnegelsberg, P. N. J., Dausman, J., Shinya, T., Muragaki, Y., McCarthy, M. T., Olsen, B. R., Jaenisch, R.
|
|
<strong>Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease</strong>
|
|
Proc. Nat. Acad. Sci. 91: 5070-5074, 1994.
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[PubMed: 8197187]
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[Full Text: https://doi.org/10.1073/pnas.91.11.5070]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hagg, R., Hedbom, E., Mollers, U., Aszodi, A., Fassler, R., Bruckner, P.
|
|
<strong>Absence of the alpha-1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice.</strong>
|
|
J. Biol. Chem. 272: 20650-20654, 1997.
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[PubMed: 9252382]
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[Full Text: https://doi.org/10.1074/jbc.272.33.20650]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Holden, P., Meadows, R. S., Chapman, K. L., Grant, M. E., Kadler, K. E., Briggs, M. D.
|
|
<strong>Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.</strong>
|
|
J. Biol. Chem. 276: 6046-6055, 2001.
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[PubMed: 11087755]
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[Full Text: https://doi.org/10.1074/jbc.M009507200]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Jacenko, O., Olsen, B. R., Warman, M. L.
|
|
<strong>Of mice and men: heritable skeletal disorders. (Editorial)</strong>
|
|
Am. J. Hum. Genet. 54: 163-168, 1994.
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|
|
[PubMed: 8304335]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kimura, T., Mattei, M.-G., Stevens, J. W., Goldring, M. B., Ninomiya, Y., Olsen, B. R.
|
|
<strong>Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha1(IX) gene on the human chromosome 6.</strong>
|
|
Europ. J. Biochem. 179: 71-78, 1989.
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|
|
[PubMed: 2465149]
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|
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[Full Text: https://doi.org/10.1111/j.1432-1033.1989.tb14522.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Loughlin, J., Mustafa, Z., Dowling, B., Southam, L., Marcelline, L., Raina, S. S., Ala-Kokko, L., Chapman, K.
|
|
<strong>Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6.</strong>
|
|
Europ. J. Hum. Genet. 10: 562-568, 2002.
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|
|
[PubMed: 12173034]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200848]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Mayne, R., van der Rest, M., Ninomiya, Y., Olsen, B. R.
|
|
<strong>The structure of type IX collagen.</strong>
|
|
Ann. N.Y. Acad. Sci. 460: 38-46, 1985.
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|
|
[PubMed: 3868958]
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[Full Text: https://doi.org/10.1111/j.1749-6632.1985.tb51155.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
McCormick, D., van der Rest, M., Goodship, J., Lozano, G., Ninomiya, T., Olsen, B. R.
|
|
<strong>Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 4044-4048, 1987.
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|
|
[PubMed: 3473493]
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[Full Text: https://doi.org/10.1073/pnas.84.12.4044]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Muragaki, Y., Nishimura, I., Henney, A., Ninomiya, Y., Olsen, B. R.
|
|
<strong>The alpha-1(IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 2400-2404, 1990.
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|
[PubMed: 1690886]
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[Full Text: https://doi.org/10.1073/pnas.87.7.2400]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Nakata, K., Ono, K., Miyazaki, J., Olsen, B. R., Muragaki, Y., Adachi, E., Yamamura, K., Kimura, T.
|
|
<strong>Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha-1(IX) collagen chains with a central deletion.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 2870-2874, 1993.
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|
|
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|
|
[PubMed: 8464901]
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|
|
[Full Text: https://doi.org/10.1073/pnas.90.7.2870]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Nikopoulos, K., Schrauwen, I., Simon, M., Collin, R. W. J., Veckeneer, M., Keymolen, K., Van Camp, G., Cremers, F. P. M., van den Born, L. I.
|
|
<strong>Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.</strong>
|
|
Invest. Ophthal. Vis. Sci. 52: 4774-4779, 2011.
|
|
|
|
|
|
[PubMed: 21421862]
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[Full Text: https://doi.org/10.1167/iovs.10-7128]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Ninomiya, Y., Olsen, B. R.
|
|
<strong>Synthesis and characterization of cDNA encoding a cartilage-specific short collagen.</strong>
|
|
Proc. Nat. Acad. Sci. 81: 3014-3018, 1984.
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|
[PubMed: 6328487]
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[Full Text: https://doi.org/10.1073/pnas.81.10.3014]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Van Camp, G., Snoeckx, R. L., Hilgert, N., van den Ende, J., Fukuoka, H., Wagatsuma, M., Suzuki, H., Smets, R. M. E., Vanhoenacker, F., Declau, F., Van De Heyning, P., Usami, S.
|
|
<strong>A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.</strong>
|
|
Am. J. Hum. Genet. 79: 449-457, 2006.
|
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|
|
[PubMed: 16909383]
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[Full Text: https://doi.org/10.1086/506478]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Warman, M. L., Tiller, G. E., Polumbo, P. A., Seldin, M. F., Rochelle, J. M., Knoll, J. H. M., Cheng, S.-D., Olsen, B. R.
|
|
<strong>Physical and linkage mapping of the human and murine genes for the alpha-1 chain of type IX collagen (COL9A1).</strong>
|
|
Genomics 17: 694-698, 1993.
|
|
|
|
|
|
[PubMed: 8244386]
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[Full Text: https://doi.org/10.1006/geno.1993.1391]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
|
<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">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ingrid M. Wentzensen - updated : 12/5/2014<br>Patricia A. Hartz - updated : 10/17/2013<br>Victor A. McKusick - updated : 8/23/2006<br>Michael B. Petersen - updated : 8/18/2003<br>Deborah L. Stone - updated : 1/14/2002<br>Victor A. McKusick - updated : 10/9/1997
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div 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>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
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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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<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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carol : 07/13/2017<br>carol : 12/09/2014<br>carol : 12/5/2014<br>alopez : 10/17/2013<br>carol : 8/4/2011<br>carol : 8/4/2011<br>wwang : 2/7/2011<br>terry : 9/9/2010<br>carol : 4/2/2008<br>alopez : 8/29/2006<br>terry : 8/23/2006<br>joanna : 11/29/2004<br>cwells : 8/18/2003<br>carol : 2/1/2002<br>carol : 1/14/2002<br>carol : 1/14/2002<br>dkim : 9/11/1998<br>dkim : 7/24/1998<br>dholmes : 10/31/1997<br>mark : 10/16/1997<br>terry : 10/9/1997<br>joanna : 4/18/1996<br>carol : 2/9/1995<br>jason : 6/7/1994<br>mimadm : 3/28/1994<br>carol : 9/21/1993<br>carol : 5/21/1993<br>carol : 6/2/1992
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