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Entry
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- *120280 - COLLAGEN, TYPE XI, ALPHA-1; COL11A1
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- OMIM
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</form>
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<div class="row">
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<div id="mimAlertBanner">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*120280</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120280">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
|
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
|
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</h4>
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</div>
|
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
|
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000060718;t=ENST00000370096" 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=1301" 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=120280" 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=ENSG00000060718;t=ENST00000370096" 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_001190709,NM_001854,NM_080629,NM_080630,NR_134980,XM_017000334,XM_017000335,XM_017000336,XM_017000337,XR_007085257" 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_001854" 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=120280" 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=00375&isoform_id=00375_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/COL11A1" 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/179730,1017460,6165881,6165882,6165883,26986668,57012543,57231920,57231922,57231924,57231926,57231928,58119423,58119427,58119432,58119435,58119442,58119447,58119449,58119453,58119457,62087268,70672075,98985806,98985810,109734414,119593314,119593315,119593316,119593317,119593318,119593319,194386584,215274245,299523253,299523257,583075136,583765374,1034555626,1034555628,1034555630,1034555632,2462503988,2462503990,2462503992,2462503994" 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/P12107" 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=1301" 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=ENSG00000060718;t=ENST00000370096" 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=COL11A1" 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=COL11A1" 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+1301" 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/COL11A1" 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:1301" 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/1301" 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=chr1&hgg_gene=ENST00000370096.9&hgg_start=102876473&hgg_end=103108522&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:2186" 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://medlineplus.gov/genetics/gene/col11a1" 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=120280[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=120280[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/COL11A1/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/ENSG00000060718" 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=COL11A1" 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=COL11A1" 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=COL11A1" 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=COL11A1&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/PA26702" 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:2186" 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:88446" 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/COL11A1#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:88446" 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/1301/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002811/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1301" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070209-167" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:120280" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:1301" 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=COL11A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1010664005, 17144009, 33410002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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120280
|
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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 XI, ALPHA-1; COL11A1
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</span>
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</h3>
|
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</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COL11A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL11A1</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/847?start=-3&limit=10&highlight=847">1p21.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:102876473-103108522&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'})">1:102,876,473-103,108,522</a> </span>
|
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</em>
|
|
</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=603932,618533,228520,154780,604841" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/847?start=-3&limit=10&highlight=847">
|
|
1p21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Lumbar disc herniation, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/603932"> 603932 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#28" class="mim-tip-reference" title="Yoshioka, H., Inoguchi, K., Khaleduzzaman, M., Ninomiya, Y., Andrikopoulos, K., Ramirez, F. <strong>Coding sequence and alternative splicing of the mouse alpha-1(XI) collagen gene (Col11a1).</strong> Genomics 28: 337-340, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530046</a>] [<a href="https://doi.org/10.1006/geno.1995.1151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530046">Yoshioka et al. (1995)</a> reported 93% sequence identity between the predicted amino acid sequence of mouse and human type XI collagen. Cloning experiments also revealed alternative splicing of the sequence coding for 85 residues located within the acidic region of the amino-globular domain of alpha-1 (XI). Analysis of RNA samples from different embryonic tissues suggested that alternative splicing may be confined to tissue destined to become bone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bernard, M., Yoshioka, H., Rodriguez, E., van der Rest, M., Kimura, T., Ninomiya, Y., Olsen, B. R., Ramirez, F. <strong>Cloning and sequencing of pro-alpha1(XI) collagen cDNA demonstrated that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue.</strong> J. Biol. Chem. 263: 17159-17166, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182841</a>]" pmid="3182841">Bernard et al. (1988)</a> showed that the cDNA-derived amino acid sequence of type XI collagen shows a variety of structural features characteristic of fibril-forming collagens. In addition, nucleotide sequence analysis of a selected portion of the human gene showed the characteristic 54-bp exon motif. They concluded, therefore, that type XI collagen belongs to the group of fibrillar collagens. They also suggested that expression of this gene is not restricted to cartilage, as previously thought, since the cDNA libraries from which the clones were isolated originated from both cartilaginous and noncartilaginous tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3182841" 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="Booth, K. T., Askew, J. W., Talebizadeh, Z., Huygen, P. L. M., Eudy, J., Kenyon, J., Hoover, D., Hildebrand, M. S., Smith, K. R., Bahlo, M., kimberling, W. J., Smith, R. J. H., Azaiez, H., Smith, S. D. <strong>Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</strong> Genet. Med. 21: 948-954, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245514</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30245514[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-018-0285-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30245514">Booth et al. (2019)</a> noted that the COL11A1 gene is expressed in the tectorial membrane of the inner ear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245514" 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="#9" 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> pointed out the usefulness of studies of the more than 40 well-characterized murine skeletal dysplasias as contributions to the understanding of human osteochondrodysplasias. As one example, they pointed to the work of <a href="#11" class="mim-tip-reference" title="Li, Y., Lacerda, D. A., Warman, M., Beier, D., Oxford, J. T., Morris, N., Andrikopoulos, K., Ramirez, F., Taylor, B., Seegmiller, R., Olsen, B. R. <strong>An abnormality in alpha-1(XI) collagen causes autosomal recessive chondrodysplasia (cho) in mice. (Abstract)</strong> Molec. Biol. Cell 4 (suppl. 1): 7a, 1993."None>Li et al. (1993)</a>, which demonstrated that the mutation in the mouse autosomal recessive disease chondrodysplasia (cho) maps to mouse chromosome 3 in the same region as the COL11A1 gene. <a href="#12" class="mim-tip-reference" title="Li, Y., Lacerda, D. A., Warman, M. L., Beier, D. R., Yoshioka, H., Ninomiya, Y., Oxford, J. T., Morris, N. P., Andrikopoulos, K., Ramirez, F., Wardell, B. B., Lifferth, G. D., Teuscher, C., Woodward, S. R., Taylor, B. A., Seegmiller, R. E., Olsen, B. R. <strong>A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.</strong> Cell 80: 423-430, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859283</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90492-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859283">Li et al. (1995)</a> demonstrated deletion of a cytidine residue about 570 nucleotides downstream of the translation initiation codon in COL11A1 mRNA from cho homozygotes. The deletion caused a reading frame shift and introduced a premature stop codon. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. The findings demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes are critically dependent on the presence of type XI collagen in cartilage extracellular matrix. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7859283+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>By microarray analysis, <a href="#10" class="mim-tip-reference" title="Jun, A. S., Liu, S. H., Koo, E. H., Do, D. V., Stark, W. J., Gottsch, J. D. <strong>Microarray analysis of gene expression in human donor corneas.</strong> Arch. Ophthal. 119: 1629-1634, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709013</a>] [<a href="https://doi.org/10.1001/archopht.119.11.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709013">Jun et al. (2001)</a> demonstrated expression of the COL11A1 gene in human donor corneas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fichard, A., Kleman, J.-P., Ruggiero, F. <strong>Another look at collagen V and XI molecules.</strong> Matrix Biol. 14: 515-531, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535602</a>] [<a href="https://doi.org/10.1016/s0945-053x(05)80001-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8535602">Fichard et al. (1995)</a> reviewed collagens V (<a href="/entry/120215">120215</a>) and XI and commented on their fundamental role in the control of fibrillogenesis, probably by forming a core within the fibrils. Another characteristic of these collagens is the partial retention of their N-propeptide extensions in tissue forms, which is unusual for known fibrillar collagens. The tissue locations of collagen V and XI are different, but their structural and biologic properties seem to be closely related. Their primary structures are highly conserved at both the gene and the protein level, and this conservation is the basis of their similar biologic properties. In particular, they are both resistant to mammalian collagenases, and surprisingly sensitive to trypsin. Although they have both cell adhesion and heparin binding sites that could be crucial in physiologic processes such as development and wound healing, the 2 collagens are usually buried within the major collagen fibrils. It had become evident that several collagen-type molecules are, in fact, heterotypic associations of chains from both collagens V and XI, demonstrating that these 2 collagens are not distinct types but a single type that can be called collagen V/XI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535602" 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="mim-changed mim-change"><p><a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a> characterized the genomic structure of the COL11A1 gene. The gene spans over 150 kb and contains 68 exons. The exons were numbered 1 to 67, with numbers 6A and 6B used for the sixth and seventh exons (previously called IIA and IIB) because they are alternatively spliced and do not exist in the same mRNA (<a href="#29" class="mim-tip-reference" title="Zhidkova, N. I., Justice, S. K., Mayne, R. <strong>Alternative mRNA processing occurs in the variable region of the pro-alpha-1(XI) and pro-alpha-2(XI) collagen chains.</strong> J. Biol. Chem. 270: 9486-9493, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7721876</a>] [<a href="https://doi.org/10.1074/jbc.270.16.9486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7721876">Zhidkova et al., 1995</a>). Exons numbered 9-15 by <a href="#3" class="mim-tip-reference" title="Bernard, M., Yoshioka, H., Rodriguez, E., van der Rest, M., Kimura, T., Ninomiya, Y., Olsen, B. R., Ramirez, F. <strong>Cloning and sequencing of pro-alpha1(XI) collagen cDNA demonstrated that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue.</strong> J. Biol. Chem. 263: 17159-17166, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182841</a>]" pmid="3182841">Bernard et al. (1988)</a> corresponded to exon 16-22 in the numbering of <a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a>. No cysteinyl residue was found in the triple-helical region. The amino acid at position 690 was methionine instead of tryptophan, an amino acid rarely found in collagen triple helices. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7721876+10486316+3182841" 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></div>
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<p>The gene for at least one subunit of type XI collagen was assigned to chromosome 1 by probing of DNA isolated from flow-sorted chromosomes (<a href="#8" class="mim-tip-reference" title="Henry, I., Bernheim, A., Bernard, M., van der Rest, M., Kimura, T., Jeanpierre, C., Barichard, F., Berger, R., Olsen, B. R., Ramirez, F., Junien, C. <strong>Mapping of a human fibrillar collagen gene, pro alpha-1(XI)(COL11A1), to the p21 region of chromosome 1.</strong> Genomics 3: 87-90, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3220479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3220479</a>] [<a href="https://doi.org/10.1016/0888-7543(88)90165-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3220479">Henry et al., 1988</a>); by in situ hybridization, the gene was regionalized to 1p21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3220479" 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="#23" class="mim-tip-reference" title="Sirko-Osadsa, D. A., Zlotogora, J., Tiller, G. E., Knowlton, R. G., Warman, M. L. <strong>A third Stickler syndrome locus is linked to COL11A1, the gene encoding the alpha-1 subunit of collagen XI. (Abstract)</strong> Am. J. Hum. Genet. 59 (suppl.): A17, 1996."None>Sirko-Osadsa et al. (1996)</a> presented evidence that a form of Stickler syndrome (STL2; <a href="/entry/604841">604841</a>) is caused by a mutation in the COL11A1 gene. They identified and used intragenic and highly linked markers of COL11A1 to show that this locus was linked to Stickler syndrome in families in which linkage to COL11A2 and COL2A1 had been excluded.</p>
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<p><strong><em>Stickler Syndrome Type II and Marshall Syndrome</em></strong></p><p>
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<a href="#19" class="mim-tip-reference" title="Richards, A. J., Yates, J. R. W., Williams, R., Payne, S. J., Pope, F. M., Scott, J. D., Snead, M. P. <strong>A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen.</strong> Hum. Molec. Genet. 5: 1339-1343, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872475</a>] [<a href="https://doi.org/10.1093/hmg/5.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872475">Richards et al. (1996)</a> studied a 4-generation family in which 7 individuals were affected with Stickler syndrome type II (STL2; <a href="/entry/604841">604841</a>) with vitreous and retinal abnormalities and 9 individuals were normal. The authors demonstrated linkage to the COL11A1 gene region. Mutation analysis of COL11A1 was performed on RT-PCR products using RNA extracted from cultured dermal fibroblasts. Sequence analysis revealed that affected individuals were heterozygous for a gly97-to-val substitution (<a href="#0001">120280.0001</a>) that disrupts the Gly-X-Y collagen sequence. SSCP analysis of 100 chromosomes from 50 unrelated controls revealed only the pattern of bands seen in normal family members. <a href="#19" class="mim-tip-reference" title="Richards, A. J., Yates, J. R. W., Williams, R., Payne, S. J., Pope, F. M., Scott, J. D., Snead, M. P. <strong>A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen.</strong> Hum. Molec. Genet. 5: 1339-1343, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872475</a>] [<a href="https://doi.org/10.1093/hmg/5.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872475">Richards et al. (1996)</a> concluded that collagen XI is an important structural component of human vitreous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8872475" 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="#15" class="mim-tip-reference" title="Martin, S., Richards, A. J., Yates, J. R. W., Scott, J. D., Pope, M., Snead, M. P. <strong>Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.</strong> Europ. J. Hum. Genet. 7: 807-814, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573014</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573014">Martin et al. (1999)</a> pointed out that Stickler syndrome patients with mutations in COL11A1 show a 'beaded' or type 2 vitreous phenotype. In 5 families with the type 2 vitreous phenotype, <a href="#15" class="mim-tip-reference" title="Martin, S., Richards, A. J., Yates, J. R. W., Scott, J. D., Pope, M., Snead, M. P. <strong>Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.</strong> Europ. J. Hum. Genet. 7: 807-814, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573014</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573014">Martin et al. (1999)</a> identified 2 families that were linked to COL11A1; sequencing identified mutations resulting in shortened collagen chains, one through exon skipping and the other through a multiexon deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573014" 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="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a> identified 15 novel mutations in the COL11A1 gene and 8 in the COL2A1 gene in patients with Marshall syndrome (MRSHS; <a href="/entry/154780">154780</a>), Stickler syndrome, or Stickler-like syndrome. Most of the mutations in the COL11A1 gene altered the splicing consensus sequences, but all of them affected the splicing-consensus sequences of 54-bp exons, as reported by <a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al. (1998)</a>. In addition, one patient had a genomic deletion resulting in the loss of a 54-bp exon (<a href="#0002">120280.0002</a>). Nine out of 10 of these mutations affected the splicing of 54-bp exons in the region spanning exons 38 to 54 of the gene. Although more than one-third of the exons in this region are 90 or 108 bp in size, no splicing mutations were found in them. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10486316+9529347" 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="#13" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. <strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong> Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236192</a>] [<a href="https://doi.org/10.1002/ajmg.a.31586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236192">Majava et al. (2007)</a> analyzed 44 patients with a phenotype suggestive of Stickler syndrome or Marshall syndrome who were negative for mutations in the COL2A1 gene, and they identified mutations in COL11A1 in 10 patients (see, e.g., <a href="#0002">120280.0002</a> and <a href="#0006">120280.0006</a>). Four of the 10 mutation-positive patients were diagnosed with Marshall syndrome, but the remaining 6 showed an overlapping Marshall/Stickler phenotype. <a href="#13" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. <strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong> Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236192</a>] [<a href="https://doi.org/10.1002/ajmg.a.31586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236192">Majava et al. (2007)</a> concluded that heterozygous COL11A1 mutations can result in either Marshall syndrome or Stickler syndrome, and also in phenotypes that are difficult to classify with respect to the 2 disorders. A type I vitreous anomaly was diagnosed in a patient with a mutation in COL11A1 (<a href="#0006">120280.0006</a>), suggesting that the vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and son with Marshall syndrome, <a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Shanske, A. L. <strong>Mosaicism in Marshall syndrome. (Letter)</strong> Am. J. Med. Genet. 149A: 1327-1330, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449424</a>] [<a href="https://doi.org/10.1002/ajmg.a.32873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449424">Ala-Kokko and Shanske (2009)</a> identified heterozygosity for a splice site mutation in the COL11A1 gene (<a href="#0012">120280.0012</a>). The mother, who was more mildly affected, was mosaic for the mutation; the authors stated that this was the first report of mosaicism in Marshall syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449424" 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>Lumbar Disc Herniation, Susceptibility to</em></strong></p><p>
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Lumbar disc herniation (see <a href="/entry/603932">603932</a>), degeneration and herniation of the nucleus pulposus of the intervertebral disc of the lumbar spine, is one of the most common musculoskeletal disorders. Type XI collagen is important for cartilage collagen formation and for organization of the extracellular matrix. <a href="#16" class="mim-tip-reference" title="Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong> Am. J. Hum. Genet. 81: 1271-1277, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999364[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/10.1086/522377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17999364">Mio et al. (2007)</a> identified an association between polymorphism of the COL11A1 gene and lumbar disc herniation in Japanese populations. A single-nucleotide polymorphism (4603C-T; <a href="#0007">120280.0007</a>) had the most significant association with lumbar disc herniation, P = 3.3 x 10(-6). Normally, the COL11A1 gene is highly expressed in the intervertebral disc; its expression was decreased in the intervertebral disc in patients with lumbar disc herniation. The expression level was inversely correlated with the severity of disc degeneration. The transcript containing the disease-associated allele was decreased because of its decreased stability. These observations indicated that type XI collagen is critical for intervertebral disc metabolism and that its decrease is related to lumbar disc herniation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999364" 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>Fibrochondrogenesis 1</em></strong></p><p>
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<a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a> sequenced the COL11A1 gene in 2 unrelated patients with fibrochondrogenesis (FBCG1; <a href="/entry/228520">228520</a>) and demonstrated that each was a compound heterozygote for a loss-of-function mutation on one allele and a mutation predicting substitution for a conserved triple-helical glycine residue on the other (<a href="#0008">120280.0008</a>-<a href="#0011">120280.0011</a>). The parents who were carriers of a missense mutation had myopia. Early-onset hearing loss was noted in both parents who carried a loss-of-function allele. <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a> suggested that COL11A1 is a locus for mild, dominantly inherited hearing loss and that there might be phenotypic manifestations among carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21035103" 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>Autosomal Dominant Deafness 37</em></strong></p><p>
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In affected members of a large 4-generation family of European descent with autosomal dominant deafness-37 (DFNA37; <a href="/entry/618533">618533</a>), <a href="#4" class="mim-tip-reference" title="Booth, K. T., Askew, J. W., Talebizadeh, Z., Huygen, P. L. M., Eudy, J., Kenyon, J., Hoover, D., Hildebrand, M. S., Smith, K. R., Bahlo, M., kimberling, W. J., Smith, R. J. H., Azaiez, H., Smith, S. D. <strong>Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</strong> Genet. Med. 21: 948-954, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245514</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30245514[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-018-0285-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30245514">Booth et al. (2019)</a> identified a heterozygous splice site mutation in the COL11A gene (<a href="#0013">120280.0013</a>). The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Using a minigene construct to express the mutation in cell lines, the authors showed that the mutation resulted in the skipping of exon 5, causing an in-frame deletion and a peptide lacking residues 218 to 260 in the N-terminal propeptide. The mutation was predicted to affect all 5 transcripts of the gene, but possibly had a 'leaky' effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245514" 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 individuals from 2 unrelated German families segregating autosomal dominant nonsyndromic prelingual sensorineural hearing loss, <a href="#18" class="mim-tip-reference" title="Rad, A., Schade-Mann, T., Gamerdinger, P., Yanus, G. A., Schulte, B., Muller, M., Imyanitov, E. N., Biskup, S., Lowenheim, H., Tropitzsch, A., Vona, B. <strong>Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.</strong> Hum. Mutat. 42: 25-30, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33169910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33169910</a>] [<a href="https://doi.org/10.1002/humu.24136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33169910">Rad et al. (2021)</a> identified heterozygous splicing mutations in the COL11A1 gene (<a href="#0014">120280.0014</a> and <a href="#0015">120280.0015</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33169910" 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 individuals from a 4-generation Italian family with prelingual or postlingual sensorineural nonsyndromic hearing loss (NSHL) who were negative for mutation in the GJB2 (<a href="/entry/121011">121011</a>) and GJB6 (<a href="/entry/604418">604418</a>) genes as well as 96 other NSHL-associated genes, <a href="#5" class="mim-tip-reference" title="Ciorba, A., Corazzi, V., Melegatti, M., Morgan, A., Pelliccione, G., Girotto, G., Bigoni, S. <strong>Non-syndromic sensorineural prelingual and postlingual hearing loss due to COL11A1 gene mutation.</strong> J. Int. Adv. Otol. 17: 81-83, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605226</a>] [<a href="https://doi.org/10.5152/iao.2020.8179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605226">Ciorba et al. (2021)</a> identified heterozygosity for a missense mutation in the COL11A1 gene (H165L; <a href="#0016">120280.0016</a>) that segregated fully with disease and was not found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605226" 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>Implication of type XI collagen in human osteochondrodysplasias was supported by the fact that mice with chondrodysplasia (cho), an autosomal recessive disorder in which there is neonatal lethality, small mandible, cleft palate, small thorax, disproportionate limbs, and fragile cartilage (<a href="#20" class="mim-tip-reference" title="Seegmiller, R., Fraser, F. C., Sheldon, H. <strong>A new chondrodystrophic mutant in mice: electron microscopy of normal and abnormal chondrogenesis.</strong> J. Cell Biol. 48: 580-593, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4100752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4100752</a>] [<a href="https://doi.org/10.1083/jcb.48.3.580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4100752">Seegmiller et al., 1971</a>), were shown to have abnormality in the alpha-1 chain of type XI collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4100752" 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="#17" class="mim-tip-reference" title="Morris, N. P., Bachinger, H. P. <strong>Type XI collagen is a heterotrimer with the composition (1alpha,2alpha,3alpha) retaining non-triple-helical domains.</strong> J. Biol. Chem. 262: 11345-11350, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3112157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3112157</a>]" pmid="3112157">Morris and Bachinger (1987)</a> concluded that type XI collagen is a trimer consisting of 3 different polypeptides--alpha-1, alpha-2, and alpha-3. All 3 chains retain non-triple-helical domains. <a href="#27" class="mim-tip-reference" title="Wu, J.-J., Eyre, D. R. <strong>Structural analysis of cross-linking domains in cartilage type XI collagen: insights on polymeric assembly.</strong> J. Biol. Chem. 270: 18865-18870, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7642541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7642541</a>] [<a href="https://doi.org/10.1074/jbc.270.32.18865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7642541">Wu and Eyre (1995)</a>, however, provided evidence that what was formerly termed the alpha-3 chain of type XI collagen is actually transcribed from the COL2A1 gene (<a href="/entry/120140">120140</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7642541+3112157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 4-generation family with Stickler syndrome type II (STL2; <a href="/entry/604841">604841</a>), <a href="#19" class="mim-tip-reference" title="Richards, A. J., Yates, J. R. W., Williams, R., Payne, S. J., Pope, F. M., Scott, J. D., Snead, M. P. <strong>A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen.</strong> Hum. Molec. Genet. 5: 1339-1343, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872475</a>] [<a href="https://doi.org/10.1093/hmg/5.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872475">Richards et al. (1996)</a> found that affected individuals were heterozygous for a single-basepair change that led to a substitution of glycine-97 for valine (G97V) and disruption of the Gly-X-Y collagen sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8872475" 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">rs398122828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122828;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=rs398122828" 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=rs398122828" 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=RCV000032995 OR RCV000579344 OR RCV000623510 OR RCV002468558 OR RCV003313929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032995, RCV000579344, RCV000623510, RCV002468558, RCV003313929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032995...</a>
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<p>In a large 3-generation kindred with Marshall syndrome (MRSHS; <a href="/entry/154780">154780</a>), <a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al. (1998)</a> demonstrated a splice site mutation in the COL11A1 gene in affected individuals. A G-to-A transition at the 5-prime end of an intron caused in-frame skipping of the preceding 54-bp exon and deletion of amino acids 726 to 743 from the major triple helical domain of the alpha-1(XI) collagen polypeptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>Marshall syndrome and a defect at the COL11A1 locus. (Letter)</strong> Am. J. Hum. Genet. 63: 1558-1559, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792885</a>] [<a href="https://doi.org/10.1086/302110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792885">Shanske et al. (1998)</a> suggested that the family reported by <a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al. (1998)</a> suffered from Stickler syndrome (STL2; <a href="/entry/604841">604841</a>), not Marshall syndrome. <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> reported a family in which 6 members in 4 generations were affected with Marshall syndrome. From a review of the literature, they attempted to distinguish the Stickler and Marshall syndromes. In both disorders, ophthalmologic abnormalities including high myopia, as well as midfacial hypoplasia, micrognathia with or without palatal clefting, and nonspecific skeletal abnormalities have been reported. In spite of these overlaps, each of the disorders has distinctive features. Striking ocular hypertelorism and abnormalities of ectodermal derivatives had been reported only in Marshall syndrome. The phenotype described by <a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al. (1998)</a> included only 'mild' orbital hypertelorism and no evidence of ectodermal derivative abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9792885+9129742+9529347" 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="#26" class="mim-tip-reference" title="Warman, M. L., Tiller, G. E., Griffith, A. J. <strong>Reply to Shanske et al. (Letter)</strong> Am. J. Hum. Genet. 63: 1559-1561, 1998."None>Warman et al. (1998)</a> vigorously defended the diagnosis of Marshall syndrome in the family they reported (<a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al., 1998</a>). They argued that a comparison of the principal findings reported by <a href="#14" class="mim-tip-reference" title="Marshall, D. <strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong> Am. J. Ophthal. 45: 143-156, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13520885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13520885</a>]" pmid="13520885">Marshall (1958)</a> with the findings in their family revealed high concordance, whereas comparison with the patients reported by <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> showed low concordance. Marshall's patients and their patients all had congenital or juvenile cataracts and fluid vitreous; none of the patients described by <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> had these conditions. Marshall's patients and their patients all had significant hearing loss; none of the patients described by <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> had hearing loss. Marshall's patients had 'ample and normal hair,' as did their patients; the patients described by <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> all had 'sparse' hair or a 'paucity of hair.' Two of Marshall's patients were studied radiographically; each had nasal bones that were 'small, short, and far back of their normal position.' These patients also had 'prominence of the frontal bossae,' which served to 'accentuate the flatness or depression of the bridge of the nose,' and 'thickening of the outer table of the skull and absent frontal sinuses.' In their report (<a href="#7" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. <strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong> Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>] [<a href="https://doi.org/10.1086/301789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529347">Griffith et al., 1998</a>), a patient photograph and cranial CT scan were included that showed nearly identical features. In contrast, the patients described by <a href="#22" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. <strong>The Marshall syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9129742">Shanske et al. (1997)</a> had 'significant frontal recession' and normal skeletal surveys. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9129742+13520885+9529347" 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="#26" class="mim-tip-reference" title="Warman, M. L., Tiller, G. E., Griffith, A. J. <strong>Reply to Shanske et al. (Letter)</strong> Am. J. Hum. Genet. 63: 1559-1561, 1998."None>Warman et al. (1998)</a> pointed out that although the presence of ectodermal abnormalities in the patients of <a href="#14" class="mim-tip-reference" title="Marshall, D. <strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong> Am. J. Ophthal. 45: 143-156, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13520885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13520885</a>]" pmid="13520885">Marshall (1958)</a> had been emphasized, e.g., sparse hair, eyebrows, and eyelashes, the patients, in fact, did not have these; instead, <a href="#14" class="mim-tip-reference" title="Marshall, D. <strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong> Am. J. Ophthal. 45: 143-156, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13520885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13520885</a>]" pmid="13520885">Marshall (1958)</a> thought that his patients had an altered ability to sweat. When comparing his patients with a 32-year-old female control, <a href="#14" class="mim-tip-reference" title="Marshall, D. <strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong> Am. J. Ophthal. 45: 143-156, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13520885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13520885</a>]" pmid="13520885">Marshall (1958)</a> observed that sweat production was 'diminished, perhaps 25% below normal.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13520885" 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 3 unrelated patients with Marshall syndrome, <a href="#13" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. <strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong> Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236192</a>] [<a href="https://doi.org/10.1002/ajmg.a.31586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236192">Majava et al. (2007)</a> identified heterozygosity for the 54-bp deletion of exon 50. All 3 patients had severe midface hypoplasia with a short nose, anteverted nares, and bulging eyes; sensorineural hearing loss was confirmed in the 2 patients who were old enough to test. No signs of ectodermal dysplasia were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In their case 15, representing 'family B' reported by <a href="#30" class="mim-tip-reference" title="Zlotogora, J., Sagi, M., Schuper, A., Leiba, H., Merin, S. <strong>Variability of Stickler syndrome.</strong> Am. J. Med. Genet. 42: 337-339, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536174</a>] [<a href="https://doi.org/10.1002/ajmg.1320420316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1536174">Zlotogora et al. (1992)</a>, <a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a> found a gly988-to-val (G988V) missense mutation in the COL11A1 gene. Affected family members had hearing loss, vitreoretinal degeneration, cataract, high myopia, short nose, anteverted nares, micro/retrognathia, midfacial hypoplasia, flat nasal bridge, long philtrum, and palatal defect, but had no retinal detachment, and were of average stature. This family was one of a group that presented with phenotypes overlapping those of both Marshall (<a href="/entry/154780">154780</a>) and Stickler (<a href="/entry/604841">604841</a>) syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1536174+10486316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In their case 8, representing several affected family members, <a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a> found a 4-bp deletion involving the last 3 bp of exon 50 and the first bp of intron 50. Affected family members showed typical features of Marshall syndrome (MRSHS; <a href="/entry/154780">154780</a>), including hearing loss, retinal detachment, and midfacial hypoplasia, but no palatal defect. Other features included abnormal frontal sinuses, intracranial ossifications, and thick calvarium, which are frequent features of Marshall syndrome but not of Stickler syndrome (STL2; <a href="/entry/604841">604841</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10486316" 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">rs1057517989 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057517989;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=rs1057517989" 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=rs1057517989" 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=RCV000413570 OR RCV001174947 OR RCV001542539" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000413570, RCV001174947, RCV001542539" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000413570...</a>
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<p>In 2 families with Stickler syndrome and the type 2 (beaded) vitreous phenotype (STL2; <a href="/entry/604841">604841</a>), <a href="#15" class="mim-tip-reference" title="Martin, S., Richards, A. J., Yates, J. R. W., Scott, J. D., Pope, M., Snead, M. P. <strong>Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.</strong> Europ. J. Hum. Genet. 7: 807-814, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573014</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573014">Martin et al. (1999)</a> found the causative mutation to be the substitution of a glycine residue in the collagen helix, likely to have a dominant-negative effect. The quantitatively minor type V and XI collagens form heterotypic fibrils with a more abundant type II fibrillar collagen and help to regulate fibril assembly and diameter. Type XI collagen is more abundant in tissues expressing type II collagen so it is to be expected that mutations in either COL2A1 or COL11A1 can cause Stickler syndrome. However, COL11A2 is not expressed in the vitreous, which explains why mutations in this gene give rise to some manifestations of Stickler syndrome but without eye anomalies (e.g., <a href="/entry/120290#0001">120290.0001</a>). In 1 family, analysis of cDNA between bases 930-1892 detected a deletion. Cloning and sequencing showed a loss of 54 bp from the RT-PCR product. Amplification and sequencing of this region of the gene showed that the 54 bp corresponded to a complete exon (gly16-gln33), which was present in both alleles of an affected individual. The 5-prime donor splice sequence of the following intron was found to be normal in both alleles. However, one allele had a single base deletion which altered the 3-prime acceptor splice site of the preceding intron, from consensus ag to tg. This led to skipping of the 54-bp exon from the mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1469787406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1469787406;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1469787406?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1469787406" 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=rs1469787406" 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=RCV001334963 OR RCV001859329 OR RCV002260151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001334963, RCV001859329, RCV002260151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001334963...</a>
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<p>In a 28-year-old female clinically diagnosed with Marshall syndrome (MRSHS; <a href="/entry/154780">154780</a>), <a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. <strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong> Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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/10.1086/302585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10486316">Annunen et al. (1999)</a> identified heterozygosity for a 1-bp insertion at the splice donor site of intron 50 of the COL11A1 gene (IVS50DS+3insT). Neither parent had the insertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10486316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 36-year-old female diagnosed with MRSHS, <a href="#13" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. <strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong> Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236192</a>] [<a href="https://doi.org/10.1002/ajmg.a.31586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236192">Majava et al. (2007)</a> identified heterozygosity for the 1-bp insertion in IVS50 of the COL11A1 gene. The patient had severe midface hypoplasia with a short nose, anteverted nares, and bulging eyes; she also had sensorineural hearing loss, but no signs of ectodermal dysplasia. Type I vitreous anomaly was diagnosed in this patient by an experienced ophthalmologist, suggesting that vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndrome cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1676486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1676486;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1676486?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1676486" 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=rs1676486" 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=RCV000018675 OR RCV000252849 OR RCV000292881 OR RCV000332848 OR RCV001510951 OR RCV001582487 OR RCV001705594 OR RCV002276556" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018675, RCV000252849, RCV000292881, RCV000332848, RCV001510951, RCV001582487, RCV001705594, RCV002276556" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018675...</a>
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<p>In Japanese populations, <a href="#16" class="mim-tip-reference" title="Mio, F., Chiba, K., Hirose, Y., Kawaguchi, Y., Mikami, Y., Oya, T., Mori, M., Kamata, M., Matsumoto, M., Ozaki, K., Tanaka, T., Takahashi, A., Kubo, T., Kimura, T., Toyama, Y., Ikegawa, S. <strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong> Am. J. Hum. Genet. 81: 1271-1277, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999364[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/10.1086/522377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17999364">Mio et al. (2007)</a> found an association between a functional single-nucleotide polymorphism in the COL11A1 gene, 4603C-T (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1676486;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1676486</a>), and susceptibility to lumbar disc herniation (<a href="/entry/603932">603932</a>) (p = 3.3 x 10(-6)). The authors showed that levels of the transcript containing the disease-associated allele were lower because of its decreased stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999364" 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">rs730882190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882190;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=rs730882190" 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=rs730882190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient of European descent with fibrochondrogenesis (FBCG1; <a href="/entry/228520">228520</a>), <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a> identified compound heterozygosity for 2 mutations in the COL11A1 gene: a 1-bp duplication (1786dupG) in exon 18 that produced a frameshift and subsequent premature termination codon (Ala596GlyfsTer8), and a 3124G-A transition in exon 42 predicting a triple-helical gly1042-to-arg (G1042R) substitution (<a href="#0009">120280.0009</a>). By allele-specific expression based on the missense mutation, <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a> showed that the frameshift mutation causes nonsense-mediated decay. The mother had had myopia from about 10 years of age, was of average stature, had normal hearing, and was heterozygous for the missense mutation. The father reported that he had hearing loss at age 7 and wore glasses from 6 years of age, but his DNA was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514455 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514455;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514455?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514455" 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=rs397514455" 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=RCV001804154 OR RCV002513167" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001804154, RCV002513167" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001804154...</a>
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<p>For discussion of the gly1042-to-arg (G1042R) mutation in the COL11A1 gene that was found in compound heterozygous state in a patient with fibrochondrogenesis (FBCG1; <a href="/entry/228520">228520</a>) by <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a>, see <a href="#0008">120280.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21035103" 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">rs387906611 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906611;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=rs387906611" 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=rs387906611" 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=RCV001804155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001804155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001804155</a>
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<p>In a patient with a milder form of fibrochondrogenesis (FBCG1; <a href="/entry/228520">228520</a>), born to a father of European descent and an African American mother, <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a> identified compound heterozygosity for 2 mutations in the COL11A1 gene: a 2386G-C transversion in exon 30 that predicts a gly796-to-arg (G796R) substitution, and a 3943G-T transversion in exon 53 that predicts a gly1315-to-ter (G1315X) substitution (<a href="#0011">120280.0011</a>). The mother had mild myopia and was a carrier for the missense mutation. The father had mild hearing loss and was heterozygous for the null mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21035103" 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">rs1557812993 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1557812993;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=rs1557812993" 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=rs1557812993" 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=RCV001804156 OR RCV001857353" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001804156, RCV001857353" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001804156...</a>
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<p>For discussion of the gly1315-to-ter (G1315X) mutation in the COL11A1 gene that was found in compound heterozygous state in a patient with fibrochondrogenesis (FBCG1; <a href="/entry/228520">228520</a>) by <a href="#25" class="mim-tip-reference" title="Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H. <strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong> Am. J. Hum. Genet. 87: 708-712, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21035103">Tompson et al. (2010)</a>, see <a href="#0010">120280.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21035103" 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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COL11A1, IVS50, G-A, +1
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032995 OR RCV000579344 OR RCV000623510 OR RCV002468558 OR RCV003313929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032995, RCV000579344, RCV000623510, RCV002468558, RCV003313929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032995...</a>
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<p>In a 3-year-old boy with Marshall syndrome (MRSHS; <a href="/entry/154780">154780</a>), <a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Shanske, A. L. <strong>Mosaicism in Marshall syndrome. (Letter)</strong> Am. J. Med. Genet. 149A: 1327-1330, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449424</a>] [<a href="https://doi.org/10.1002/ajmg.a.32873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449424">Ala-Kokko and Shanske (2009)</a> identified heterozygosity for a G-A transition in intron 50 of the COL11A1 gene (IVS50+1G-A). The same mutation was present in his mildly affected mother; however, the amount of mutant allele was only about 20% of the wildtype allele in the mother's sample. Similar results were obtained with both lymphocytes and skin fibroblasts from the mother, strongly suggesting that the mutation was mosaic in the mother and that mosaicism was the reason for her less severe manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs747787770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747787770;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs747787770?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs747787770" 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=rs747787770" 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=RCV000824676" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000824676" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000824676</a>
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<p>In affected members of a large 4-generation family of European descent with autosomal dominant deafness-37 (DFNA37; <a href="/entry/618533">618533</a>), <a href="#4" class="mim-tip-reference" title="Booth, K. T., Askew, J. W., Talebizadeh, Z., Huygen, P. L. M., Eudy, J., Kenyon, J., Hoover, D., Hildebrand, M. S., Smith, K. R., Bahlo, M., kimberling, W. J., Smith, R. J. H., Azaiez, H., Smith, S. D. <strong>Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</strong> Genet. Med. 21: 948-954, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30245514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30245514</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30245514[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-018-0285-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30245514">Booth et al. (2019)</a> identified a heterozygous A-to-C transversion in intron 4 (c.652-2A-C, NM_080629.1) of the COL11A gene, resulting in a splice site alteration. The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project, Exome Variant Server, ExAC, or gnomAD databases. Using a minigene construct to express the mutation in cell lines, the authors showed that the mutation resulted in the skipping of exon 5, causing an in-frame deletion and a peptide lacking residues 218 to 260 in the N-terminal propeptide. The mutation was predicted to affect all 5 transcripts of the gene, but possibly had a 'leaky' effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30245514" 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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COL11A1, IVS4, G-C, -1 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064797115;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1064797115</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1064797115 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064797115;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=rs1064797115" 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=rs1064797115" 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=RCV000487702 OR RCV001375056 OR RCV001449577" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000487702, RCV001375056, RCV001449577" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000487702...</a>
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<p>In a German father and daughter (family 1) with nonsyndromic prelingual sensorineural hearing loss (DFNA37; <a href="/entry/618533">618533</a>), <a href="#18" class="mim-tip-reference" title="Rad, A., Schade-Mann, T., Gamerdinger, P., Yanus, G. A., Schulte, B., Muller, M., Imyanitov, E. N., Biskup, S., Lowenheim, H., Tropitzsch, A., Vona, B. <strong>Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.</strong> Hum. Mutat. 42: 25-30, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33169910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33169910</a>] [<a href="https://doi.org/10.1002/humu.24136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33169910">Rad et al. (2021)</a> identified heterozygosity for a splicing mutation (c.652-1G-C, NM_080629.2) in intron 4 of the COL11A1 gene. An in vitro splicing assay revealed that the c.652-1C variant impacts splicing through the loss of an acceptor site and activation of 2 cryptic splice acceptor sites in exon 5 that cause in-frame deletions. TA cloning analysis showed that 67% of amplicons used the first cryptic splice site (r.652_663del; Gly218_Gln221del) and 33% of amplicons used the second cryptic acceptor site (r.652_666del; Gly218_Gln222del). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33169910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 DEAFNESS, AUTOSOMAL DOMINANT 37</strong>
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COL11A1, IVS57, T-C, +2 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553196233;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1553196233</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553196233 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553196233;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=rs1553196233" 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=rs1553196233" 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=RCV000585624 OR RCV001375057 OR RCV001449578" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000585624, RCV001375057, RCV001449578" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000585624...</a>
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<p>In a German mother and son (family 2) with nonsyndromic prelingual sensorineural hearing loss (DFNA37; <a href="/entry/618533">618533</a>), <a href="#18" class="mim-tip-reference" title="Rad, A., Schade-Mann, T., Gamerdinger, P., Yanus, G. A., Schulte, B., Muller, M., Imyanitov, E. N., Biskup, S., Lowenheim, H., Tropitzsch, A., Vona, B. <strong>Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.</strong> Hum. Mutat. 42: 25-30, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33169910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33169910</a>] [<a href="https://doi.org/10.1002/humu.24136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33169910">Rad et al. (2021)</a> identified heterozygosity for a splicing mutation (c.4338+2T-C, NM_080629.2) in intron 57 of the COL11A1 gene. Neither of the mother's parents carried the mutation, suggesting that it arose de novo in the mother; paternity testing was not possible for confirmation. An in vitro splicing assay revealed that the c.4338+2C variant results in 3 abnormally spliced amplicons that include the activation of 2 cryptic splice donor sites in intron 57 and skipping of exon 57. In TA cloning analysis, 87% of amplicons showed evidence of skipping of exon 57, 6.5% used the first cryptic donor site (r.4338_4339ins4338+1_4338+4), and 6.5% used the second cryptic donor site (r.4338_4339ins4338+1_4338+30). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33169910" 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">rs2102282139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2102282139;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=rs2102282139" 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=rs2102282139" 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=RCV001449579 OR RCV004728726" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001449579, RCV004728726" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001449579...</a>
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<p>In 5 affected members of a 4-generation Italian family with nonsyndromic pre- and postlingual sensorineural hearing loss (DFNA37; <a href="/entry/618533">618533</a>), <a href="#5" class="mim-tip-reference" title="Ciorba, A., Corazzi, V., Melegatti, M., Morgan, A., Pelliccione, G., Girotto, G., Bigoni, S. <strong>Non-syndromic sensorineural prelingual and postlingual hearing loss due to COL11A1 gene mutation.</strong> J. Int. Adv. Otol. 17: 81-83, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33605226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33605226</a>] [<a href="https://doi.org/10.5152/iao.2020.8179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33605226">Ciorba et al. (2021)</a> identified heterozygosity for a c.494A-T transversion (c.494A-T, NM_001854.3) in the COL11A1 gene, resulting in a his165-to-leu (H165L) substitution within the laminin G domain. The mutation segregated fully with disease in the family and was not found in the dbSNP, 1000 Genomes Project, ExAC, or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33605226" 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="#Stickler1965" class="mim-tip-reference" title="Stickler, G. B., Belau, P. G., Farrell, F. J., Jones, J. D., Pugh, D. G., Steinberg, A. G., Ward, L. E. <strong>Hereditary progressive arthro-ophthalmopathy.</strong> Mayo Clin. Proc. 40: 433-455, 1965.">Stickler et al. (1965)</a>
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Ala-Kokko, L., Shanske, A. L.
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<strong>Mosaicism in Marshall syndrome. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1327-1330, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32873" target="_blank">Full Text</a>]
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Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others.
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<strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong>
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Am. J. Hum. Genet. 65: 974-983, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[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=10486316" 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/10.1086/302585" target="_blank">Full Text</a>]
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Bernard, M., Yoshioka, H., Rodriguez, E., van der Rest, M., Kimura, T., Ninomiya, Y., Olsen, B. R., Ramirez, F.
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<strong>Cloning and sequencing of pro-alpha1(XI) collagen cDNA demonstrated that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue.</strong>
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J. Biol. Chem. 263: 17159-17166, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3182841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
|
|
<strong>Marshall syndrome and a defect at the COL11A1 locus. (Letter)</strong>
|
|
Am. J. Hum. Genet. 63: 1558-1559, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792885" 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/10.1086/302110" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Shanske1997" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
|
|
<strong>The Marshall syndrome: report of a new family and review of the literature.</strong>
|
|
Am. J. Med. Genet. 70: 52-57, 1997.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9129742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Sirko-Osadsa1996" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sirko-Osadsa, D. A., Zlotogora, J., Tiller, G. E., Knowlton, R. G., Warman, M. L.
|
|
<strong>A third Stickler syndrome locus is linked to COL11A1, the gene encoding the alpha-1 subunit of collagen XI. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 59 (suppl.): A17, 1996.
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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|
<a id="Stickler1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stickler, G. B., Belau, P. G., Farrell, F. J., Jones, J. D., Pugh, D. G., Steinberg, A. G., Ward, L. E.
|
|
<strong>Hereditary progressive arthro-ophthalmopathy.</strong>
|
|
Mayo Clin. Proc. 40: 433-455, 1965.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14299791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14299791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14299791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Tompson2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H.
|
|
<strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong>
|
|
Am. J. Hum. Genet. 87: 708-712, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21035103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21035103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21035103[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=21035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.10.009" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Warman1998" 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., Griffith, A. J.
|
|
<strong>Reply to Shanske et al. (Letter)</strong>
|
|
Am. J. Hum. Genet. 63: 1559-1561, 1998.
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Wu1995" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wu, J.-J., Eyre, D. R.
|
|
<strong>Structural analysis of cross-linking domains in cartilage type XI collagen: insights on polymeric assembly.</strong>
|
|
J. Biol. Chem. 270: 18865-18870, 1995.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7642541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7642541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7642541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.270.32.18865" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Yoshioka1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshioka, H., Inoguchi, K., Khaleduzzaman, M., Ninomiya, Y., Andrikopoulos, K., Ramirez, F.
|
|
<strong>Coding sequence and alternative splicing of the mouse alpha-1(XI) collagen gene (Col11a1).</strong>
|
|
Genomics 28: 337-340, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1151" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Zhidkova1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Zhidkova, N. I., Justice, S. K., Mayne, R.
|
|
<strong>Alternative mRNA processing occurs in the variable region of the pro-alpha-1(XI) and pro-alpha-2(XI) collagen chains.</strong>
|
|
J. Biol. Chem. 270: 9486-9493, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7721876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7721876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.270.16.9486" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Zlotogora1992" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Zlotogora, J., Sagi, M., Schuper, A., Leiba, H., Merin, S.
|
|
<strong>Variability of Stickler syndrome.</strong>
|
|
Am. J. Med. Genet. 42: 337-339, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536174</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1536174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420316" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 05/24/2021
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</span>
|
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</div>
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</div>
|
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<div class="row collapse" id="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">
|
|
Cassandra L. Kniffin - updated : 08/11/2019<br>Marla J. F. O'Neill - updated : 11/9/2012<br>Nara Sobreira - updated : 2/23/2011<br>Victor A. McKusick - updated : 11/28/2007<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Jane Kelly - updated : 12/6/2002<br>Victor A. McKusick - updated : 11/24/1999<br>Victor A. McKusick - updated : 10/8/1999<br>Victor A. McKusick - updated : 12/14/1998<br>Victor A. McKusick - updated : 12/3/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Moyra Smith - updated : 10/18/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 9/29/1987
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 12/23/2024
|
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</span>
|
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</div>
|
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</div>
|
|
<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">
|
|
alopez : 05/24/2021<br>carol : 08/13/2019<br>carol : 08/12/2019<br>ckniffin : 08/11/2019<br>carol : 05/21/2015<br>mcolton : 5/20/2015<br>carol : 3/12/2015<br>carol : 3/3/2015<br>carol : 11/12/2012<br>terry : 11/9/2012<br>carol : 8/7/2012<br>carol : 8/4/2011<br>carol : 2/23/2011<br>carol : 2/23/2011<br>alopez : 11/30/2007<br>terry : 11/28/2007<br>wwang : 7/6/2007<br>terry : 7/2/2007<br>carol : 12/6/2002<br>terry : 3/21/2001<br>carol : 12/21/2000<br>carol : 6/16/2000<br>carol : 4/17/2000<br>carol : 4/17/2000<br>carol : 11/29/1999<br>terry : 11/24/1999<br>alopez : 11/16/1999<br>alopez : 10/19/1999<br>terry : 10/8/1999<br>mgross : 3/16/1999<br>carol : 12/14/1998<br>carol : 12/10/1998<br>terry : 12/3/1998<br>terry : 7/24/1998<br>terry : 5/29/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>terry : 7/7/1997<br>mark : 11/25/1996<br>mark : 11/24/1996<br>mark : 11/24/1996<br>mark : 10/18/1996<br>joanna : 4/18/1996<br>mark : 10/13/1995<br>carol : 2/24/1995<br>jason : 6/7/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 120280
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
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|
|
COLLAGEN, TYPE XI, ALPHA-1; COL11A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: COL11A1</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 1010664005, 17144009, 33410002;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: 1p21.1
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:102,876,473-103,108,522 </span>
|
|
</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
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<th>
|
|
Location
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
1p21.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Lumbar disc herniation, susceptibility to}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603932
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
Deafness, autosomal dominant 37
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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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618533
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Fibrochondrogenesis 1
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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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228520
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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 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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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Marshall syndrome
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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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154780
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Stickler syndrome, type II
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
604841
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
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</span>
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</td>
|
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<td>
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<span class="mim-font">
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|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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">
|
|
<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>Yoshioka et al. (1995) reported 93% sequence identity between the predicted amino acid sequence of mouse and human type XI collagen. Cloning experiments also revealed alternative splicing of the sequence coding for 85 residues located within the acidic region of the amino-globular domain of alpha-1 (XI). Analysis of RNA samples from different embryonic tissues suggested that alternative splicing may be confined to tissue destined to become bone. </p><p>Bernard et al. (1988) showed that the cDNA-derived amino acid sequence of type XI collagen shows a variety of structural features characteristic of fibril-forming collagens. In addition, nucleotide sequence analysis of a selected portion of the human gene showed the characteristic 54-bp exon motif. They concluded, therefore, that type XI collagen belongs to the group of fibrillar collagens. They also suggested that expression of this gene is not restricted to cartilage, as previously thought, since the cDNA libraries from which the clones were isolated originated from both cartilaginous and noncartilaginous tissues. </p><p>Booth et al. (2019) noted that the COL11A1 gene is expressed in the tectorial membrane of the inner ear. </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">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Jacenko et al. (1994) pointed out the usefulness of studies of the more than 40 well-characterized murine skeletal dysplasias as contributions to the understanding of human osteochondrodysplasias. As one example, they pointed to the work of Li et al. (1993), which demonstrated that the mutation in the mouse autosomal recessive disease chondrodysplasia (cho) maps to mouse chromosome 3 in the same region as the COL11A1 gene. Li et al. (1995) demonstrated deletion of a cytidine residue about 570 nucleotides downstream of the translation initiation codon in COL11A1 mRNA from cho homozygotes. The deletion caused a reading frame shift and introduced a premature stop codon. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. The findings demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes are critically dependent on the presence of type XI collagen in cartilage extracellular matrix. </p><p>By microarray analysis, Jun et al. (2001) demonstrated expression of the COL11A1 gene in human donor corneas. </p><p>Fichard et al. (1995) reviewed collagens V (120215) and XI and commented on their fundamental role in the control of fibrillogenesis, probably by forming a core within the fibrils. Another characteristic of these collagens is the partial retention of their N-propeptide extensions in tissue forms, which is unusual for known fibrillar collagens. The tissue locations of collagen V and XI are different, but their structural and biologic properties seem to be closely related. Their primary structures are highly conserved at both the gene and the protein level, and this conservation is the basis of their similar biologic properties. In particular, they are both resistant to mammalian collagenases, and surprisingly sensitive to trypsin. Although they have both cell adhesion and heparin binding sites that could be crucial in physiologic processes such as development and wound healing, the 2 collagens are usually buried within the major collagen fibrils. It had become evident that several collagen-type molecules are, in fact, heterotypic associations of chains from both collagens V and XI, demonstrating that these 2 collagens are not distinct types but a single type that can be called collagen V/XI. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Annunen et al. (1999) characterized the genomic structure of the COL11A1 gene. The gene spans over 150 kb and contains 68 exons. The exons were numbered 1 to 67, with numbers 6A and 6B used for the sixth and seventh exons (previously called IIA and IIB) because they are alternatively spliced and do not exist in the same mRNA (Zhidkova et al., 1995). Exons numbered 9-15 by Bernard et al. (1988) corresponded to exon 16-22 in the numbering of Annunen et al. (1999). No cysteinyl residue was found in the triple-helical region. The amino acid at position 690 was methionine instead of tryptophan, an amino acid rarely found in collagen triple helices. </p>
|
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</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>The gene for at least one subunit of type XI collagen was assigned to chromosome 1 by probing of DNA isolated from flow-sorted chromosomes (Henry et al., 1988); by in situ hybridization, the gene was regionalized to 1p21. </p><p>Sirko-Osadsa et al. (1996) presented evidence that a form of Stickler syndrome (STL2; 604841) is caused by a mutation in the COL11A1 gene. They identified and used intragenic and highly linked markers of COL11A1 to show that this locus was linked to Stickler syndrome in families in which linkage to COL11A2 and COL2A1 had been excluded.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Stickler Syndrome Type II and Marshall Syndrome</em></strong></p><p>
|
|
Richards et al. (1996) studied a 4-generation family in which 7 individuals were affected with Stickler syndrome type II (STL2; 604841) with vitreous and retinal abnormalities and 9 individuals were normal. The authors demonstrated linkage to the COL11A1 gene region. Mutation analysis of COL11A1 was performed on RT-PCR products using RNA extracted from cultured dermal fibroblasts. Sequence analysis revealed that affected individuals were heterozygous for a gly97-to-val substitution (120280.0001) that disrupts the Gly-X-Y collagen sequence. SSCP analysis of 100 chromosomes from 50 unrelated controls revealed only the pattern of bands seen in normal family members. Richards et al. (1996) concluded that collagen XI is an important structural component of human vitreous. </p><p>Martin et al. (1999) pointed out that Stickler syndrome patients with mutations in COL11A1 show a 'beaded' or type 2 vitreous phenotype. In 5 families with the type 2 vitreous phenotype, Martin et al. (1999) identified 2 families that were linked to COL11A1; sequencing identified mutations resulting in shortened collagen chains, one through exon skipping and the other through a multiexon deletion. </p><p>Annunen et al. (1999) identified 15 novel mutations in the COL11A1 gene and 8 in the COL2A1 gene in patients with Marshall syndrome (MRSHS; 154780), Stickler syndrome, or Stickler-like syndrome. Most of the mutations in the COL11A1 gene altered the splicing consensus sequences, but all of them affected the splicing-consensus sequences of 54-bp exons, as reported by Griffith et al. (1998). In addition, one patient had a genomic deletion resulting in the loss of a 54-bp exon (120280.0002). Nine out of 10 of these mutations affected the splicing of 54-bp exons in the region spanning exons 38 to 54 of the gene. Although more than one-third of the exons in this region are 90 or 108 bp in size, no splicing mutations were found in them. </p><p>Majava et al. (2007) analyzed 44 patients with a phenotype suggestive of Stickler syndrome or Marshall syndrome who were negative for mutations in the COL2A1 gene, and they identified mutations in COL11A1 in 10 patients (see, e.g., 120280.0002 and 120280.0006). Four of the 10 mutation-positive patients were diagnosed with Marshall syndrome, but the remaining 6 showed an overlapping Marshall/Stickler phenotype. Majava et al. (2007) concluded that heterozygous COL11A1 mutations can result in either Marshall syndrome or Stickler syndrome, and also in phenotypes that are difficult to classify with respect to the 2 disorders. A type I vitreous anomaly was diagnosed in a patient with a mutation in COL11A1 (120280.0006), suggesting that the vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndromes. </p><p>In a mother and son with Marshall syndrome, Ala-Kokko and Shanske (2009) identified heterozygosity for a splice site mutation in the COL11A1 gene (120280.0012). The mother, who was more mildly affected, was mosaic for the mutation; the authors stated that this was the first report of mosaicism in Marshall syndrome. </p><p><strong><em>Lumbar Disc Herniation, Susceptibility to</em></strong></p><p>
|
|
Lumbar disc herniation (see 603932), degeneration and herniation of the nucleus pulposus of the intervertebral disc of the lumbar spine, is one of the most common musculoskeletal disorders. Type XI collagen is important for cartilage collagen formation and for organization of the extracellular matrix. Mio et al. (2007) identified an association between polymorphism of the COL11A1 gene and lumbar disc herniation in Japanese populations. A single-nucleotide polymorphism (4603C-T; 120280.0007) had the most significant association with lumbar disc herniation, P = 3.3 x 10(-6). Normally, the COL11A1 gene is highly expressed in the intervertebral disc; its expression was decreased in the intervertebral disc in patients with lumbar disc herniation. The expression level was inversely correlated with the severity of disc degeneration. The transcript containing the disease-associated allele was decreased because of its decreased stability. These observations indicated that type XI collagen is critical for intervertebral disc metabolism and that its decrease is related to lumbar disc herniation. </p><p><strong><em>Fibrochondrogenesis 1</em></strong></p><p>
|
|
Tompson et al. (2010) sequenced the COL11A1 gene in 2 unrelated patients with fibrochondrogenesis (FBCG1; 228520) and demonstrated that each was a compound heterozygote for a loss-of-function mutation on one allele and a mutation predicting substitution for a conserved triple-helical glycine residue on the other (120280.0008-120280.0011). The parents who were carriers of a missense mutation had myopia. Early-onset hearing loss was noted in both parents who carried a loss-of-function allele. Tompson et al. (2010) suggested that COL11A1 is a locus for mild, dominantly inherited hearing loss and that there might be phenotypic manifestations among carriers. </p><p><strong><em>Autosomal Dominant Deafness 37</em></strong></p><p>
|
|
In affected members of a large 4-generation family of European descent with autosomal dominant deafness-37 (DFNA37; 618533), Booth et al. (2019) identified a heterozygous splice site mutation in the COL11A gene (120280.0013). The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Using a minigene construct to express the mutation in cell lines, the authors showed that the mutation resulted in the skipping of exon 5, causing an in-frame deletion and a peptide lacking residues 218 to 260 in the N-terminal propeptide. The mutation was predicted to affect all 5 transcripts of the gene, but possibly had a 'leaky' effect. </p><p>In affected individuals from 2 unrelated German families segregating autosomal dominant nonsyndromic prelingual sensorineural hearing loss, Rad et al. (2021) identified heterozygous splicing mutations in the COL11A1 gene (120280.0014 and 120280.0015, respectively). </p><p>In affected individuals from a 4-generation Italian family with prelingual or postlingual sensorineural nonsyndromic hearing loss (NSHL) who were negative for mutation in the GJB2 (121011) and GJB6 (604418) genes as well as 96 other NSHL-associated genes, Ciorba et al. (2021) identified heterozygosity for a missense mutation in the COL11A1 gene (H165L; 120280.0016) that segregated fully with disease and was not found in public variant databases. </p>
|
|
</span>
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<div>
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<br />
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|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Implication of type XI collagen in human osteochondrodysplasias was supported by the fact that mice with chondrodysplasia (cho), an autosomal recessive disorder in which there is neonatal lethality, small mandible, cleft palate, small thorax, disproportionate limbs, and fragile cartilage (Seegmiller et al., 1971), were shown to have abnormality in the alpha-1 chain of type XI collagen. </p>
|
|
</span>
|
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<div>
|
|
<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Morris and Bachinger (1987) concluded that type XI collagen is a trimer consisting of 3 different polypeptides--alpha-1, alpha-2, and alpha-3. All 3 chains retain non-triple-helical domains. Wu and Eyre (1995), however, provided evidence that what was formerly termed the alpha-3 chain of type XI collagen is actually transcribed from the COL2A1 gene (120140). </p>
|
|
</span>
|
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<div>
|
|
<br />
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>16 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 STICKLER SYNDROME, TYPE II</strong>
|
|
</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">
|
|
|
|
COL11A1, GLY97VAL
|
|
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|
|
|
<br />
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|
|
SNP: rs121912943,
|
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|
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|
|
ClinVar: RCV000018669
|
|
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</span>
|
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</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-generation family with Stickler syndrome type II (STL2; 604841), Richards et al. (1996) found that affected individuals were heterozygous for a single-basepair change that led to a substitution of glycine-97 for valine (G97V) and disruption of the Gly-X-Y collagen sequence. </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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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MARSHALL SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, 54-BP DEL
|
|
|
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|
|
<br />
|
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|
|
SNP: rs398122828,
|
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|
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|
|
ClinVar: RCV000032995, RCV000579344, RCV000623510, RCV002468558, RCV003313929
|
|
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large 3-generation kindred with Marshall syndrome (MRSHS; 154780), Griffith et al. (1998) demonstrated a splice site mutation in the COL11A1 gene in affected individuals. A G-to-A transition at the 5-prime end of an intron caused in-frame skipping of the preceding 54-bp exon and deletion of amino acids 726 to 743 from the major triple helical domain of the alpha-1(XI) collagen polypeptide. </p><p>Shanske et al. (1998) suggested that the family reported by Griffith et al. (1998) suffered from Stickler syndrome (STL2; 604841), not Marshall syndrome. Shanske et al. (1997) reported a family in which 6 members in 4 generations were affected with Marshall syndrome. From a review of the literature, they attempted to distinguish the Stickler and Marshall syndromes. In both disorders, ophthalmologic abnormalities including high myopia, as well as midfacial hypoplasia, micrognathia with or without palatal clefting, and nonspecific skeletal abnormalities have been reported. In spite of these overlaps, each of the disorders has distinctive features. Striking ocular hypertelorism and abnormalities of ectodermal derivatives had been reported only in Marshall syndrome. The phenotype described by Griffith et al. (1998) included only 'mild' orbital hypertelorism and no evidence of ectodermal derivative abnormalities. </p><p>Warman et al. (1998) vigorously defended the diagnosis of Marshall syndrome in the family they reported (Griffith et al., 1998). They argued that a comparison of the principal findings reported by Marshall (1958) with the findings in their family revealed high concordance, whereas comparison with the patients reported by Shanske et al. (1997) showed low concordance. Marshall's patients and their patients all had congenital or juvenile cataracts and fluid vitreous; none of the patients described by Shanske et al. (1997) had these conditions. Marshall's patients and their patients all had significant hearing loss; none of the patients described by Shanske et al. (1997) had hearing loss. Marshall's patients had 'ample and normal hair,' as did their patients; the patients described by Shanske et al. (1997) all had 'sparse' hair or a 'paucity of hair.' Two of Marshall's patients were studied radiographically; each had nasal bones that were 'small, short, and far back of their normal position.' These patients also had 'prominence of the frontal bossae,' which served to 'accentuate the flatness or depression of the bridge of the nose,' and 'thickening of the outer table of the skull and absent frontal sinuses.' In their report (Griffith et al., 1998), a patient photograph and cranial CT scan were included that showed nearly identical features. In contrast, the patients described by Shanske et al. (1997) had 'significant frontal recession' and normal skeletal surveys. </p><p>Warman et al. (1998) pointed out that although the presence of ectodermal abnormalities in the patients of Marshall (1958) had been emphasized, e.g., sparse hair, eyebrows, and eyelashes, the patients, in fact, did not have these; instead, Marshall (1958) thought that his patients had an altered ability to sweat. When comparing his patients with a 32-year-old female control, Marshall (1958) observed that sweat production was 'diminished, perhaps 25% below normal.' </p><p>In 3 unrelated patients with Marshall syndrome, Majava et al. (2007) identified heterozygosity for the 54-bp deletion of exon 50. All 3 patients had severe midface hypoplasia with a short nose, anteverted nares, and bulging eyes; sensorineural hearing loss was confirmed in the 2 patients who were old enough to test. No signs of ectodermal dysplasia were observed. </p>
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|
</span>
|
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</div>
|
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MARSHALL/STICKLER SYNDROME</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">
|
|
|
|
COL11A1, GLY988VAL
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|
|
|
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<br />
|
|
|
|
SNP: rs121912944,
|
|
|
|
|
|
|
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ClinVar: RCV000018671
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|
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In their case 15, representing 'family B' reported by Zlotogora et al. (1992), Annunen et al. (1999) found a gly988-to-val (G988V) missense mutation in the COL11A1 gene. Affected family members had hearing loss, vitreoretinal degeneration, cataract, high myopia, short nose, anteverted nares, micro/retrognathia, midfacial hypoplasia, flat nasal bridge, long philtrum, and palatal defect, but had no retinal detachment, and were of average stature. This family was one of a group that presented with phenotypes overlapping those of both Marshall (154780) and Stickler (604841) syndromes. </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 MARSHALL SYNDROME</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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COL11A1, 4-BP DEL, EX50/IVS50
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<br />
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SNP: rs2101038943,
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ClinVar: RCV000018672
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|
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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 their case 8, representing several affected family members, Annunen et al. (1999) found a 4-bp deletion involving the last 3 bp of exon 50 and the first bp of intron 50. Affected family members showed typical features of Marshall syndrome (MRSHS; 154780), including hearing loss, retinal detachment, and midfacial hypoplasia, but no palatal defect. Other features included abnormal frontal sinuses, intracranial ossifications, and thick calvarium, which are frequent features of Marshall syndrome but not of Stickler syndrome (STL2; 604841). </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 STICKLER SYNDROME, TYPE II</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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COL11A1, 54-BP EX DEL, AS, AG-TG
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<br />
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SNP: rs1057517989,
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ClinVar: RCV000413570, RCV001174947, RCV001542539
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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 families with Stickler syndrome and the type 2 (beaded) vitreous phenotype (STL2; 604841), Martin et al. (1999) found the causative mutation to be the substitution of a glycine residue in the collagen helix, likely to have a dominant-negative effect. The quantitatively minor type V and XI collagens form heterotypic fibrils with a more abundant type II fibrillar collagen and help to regulate fibril assembly and diameter. Type XI collagen is more abundant in tissues expressing type II collagen so it is to be expected that mutations in either COL2A1 or COL11A1 can cause Stickler syndrome. However, COL11A2 is not expressed in the vitreous, which explains why mutations in this gene give rise to some manifestations of Stickler syndrome but without eye anomalies (e.g., 120290.0001). In 1 family, analysis of cDNA between bases 930-1892 detected a deletion. Cloning and sequencing showed a loss of 54 bp from the RT-PCR product. Amplification and sequencing of this region of the gene showed that the 54 bp corresponded to a complete exon (gly16-gln33), which was present in both alleles of an affected individual. The 5-prime donor splice sequence of the following intron was found to be normal in both alleles. However, one allele had a single base deletion which altered the 3-prime acceptor splice site of the preceding intron, from consensus ag to tg. This led to skipping of the 54-bp exon from the mRNA. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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|
<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MARSHALL SYNDROME</strong>
|
|
</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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|
|
COL11A1, 1-BP INS, 3816T
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<br />
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SNP: rs1469787406,
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|
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|
|
gnomAD: rs1469787406,
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|
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ClinVar: RCV001334963, RCV001859329, RCV002260151
|
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|
|
|
|
</span>
|
|
</div>
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 28-year-old female clinically diagnosed with Marshall syndrome (MRSHS; 154780), Annunen et al. (1999) identified heterozygosity for a 1-bp insertion at the splice donor site of intron 50 of the COL11A1 gene (IVS50DS+3insT). Neither parent had the insertion. </p><p>In a 36-year-old female diagnosed with MRSHS, Majava et al. (2007) identified heterozygosity for the 1-bp insertion in IVS50 of the COL11A1 gene. The patient had severe midface hypoplasia with a short nose, anteverted nares, and bulging eyes; she also had sensorineural hearing loss, but no signs of ectodermal dysplasia. Type I vitreous anomaly was diagnosed in this patient by an experienced ophthalmologist, suggesting that vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndrome cases. </p>
|
|
</span>
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|
</div>
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<div>
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|
<br />
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</div>
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</div>
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|
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|
<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL11A1, 4603C-T ({dbSNP rs1676486})
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<br />
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|
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SNP: rs1676486,
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gnomAD: rs1676486,
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|
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ClinVar: RCV000018675, RCV000252849, RCV000292881, RCV000332848, RCV001510951, RCV001582487, RCV001705594, RCV002276556
|
|
|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In Japanese populations, Mio et al. (2007) found an association between a functional single-nucleotide polymorphism in the COL11A1 gene, 4603C-T (rs1676486), and susceptibility to lumbar disc herniation (603932) (p = 3.3 x 10(-6)). The authors showed that levels of the transcript containing the disease-associated allele were lower because of its decreased stability. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 FIBROCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, 1-BP DUP, 1786G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730882190,
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|
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|
|
|
|
|
ClinVar: RCV001804153
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of European descent with fibrochondrogenesis (FBCG1; 228520), Tompson et al. (2010) identified compound heterozygosity for 2 mutations in the COL11A1 gene: a 1-bp duplication (1786dupG) in exon 18 that produced a frameshift and subsequent premature termination codon (Ala596GlyfsTer8), and a 3124G-A transition in exon 42 predicting a triple-helical gly1042-to-arg (G1042R) substitution (120280.0009). By allele-specific expression based on the missense mutation, Tompson et al. (2010) showed that the frameshift mutation causes nonsense-mediated decay. The mother had had myopia from about 10 years of age, was of average stature, had normal hearing, and was heterozygous for the missense mutation. The father reported that he had hearing loss at age 7 and wore glasses from 6 years of age, but his DNA was not available for testing. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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|
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</div>
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|
|
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 FIBROCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, GLY1042ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514455,
|
|
|
|
|
|
gnomAD: rs397514455,
|
|
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|
|
|
ClinVar: RCV001804154, RCV002513167
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly1042-to-arg (G1042R) mutation in the COL11A1 gene that was found in compound heterozygous state in a patient with fibrochondrogenesis (FBCG1; 228520) by Tompson et al. (2010), see 120280.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 FIBROCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, GLY796ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906611,
|
|
|
|
|
|
|
|
ClinVar: RCV001804155
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a milder form of fibrochondrogenesis (FBCG1; 228520), born to a father of European descent and an African American mother, Tompson et al. (2010) identified compound heterozygosity for 2 mutations in the COL11A1 gene: a 2386G-C transversion in exon 30 that predicts a gly796-to-arg (G796R) substitution, and a 3943G-T transversion in exon 53 that predicts a gly1315-to-ter (G1315X) substitution (120280.0011). The mother had mild myopia and was a carrier for the missense mutation. The father had mild hearing loss and was heterozygous for the null mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 FIBROCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, GLY1315TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1557812993,
|
|
|
|
|
|
|
|
ClinVar: RCV001804156, RCV001857353
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly1315-to-ter (G1315X) mutation in the COL11A1 gene that was found in compound heterozygous state in a patient with fibrochondrogenesis (FBCG1; 228520) by Tompson et al. (2010), see 120280.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MARSHALL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, IVS50, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000032995, RCV000579344, RCV000623510, RCV002468558, RCV003313929
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old boy with Marshall syndrome (MRSHS; 154780), Ala-Kokko and Shanske (2009) identified heterozygosity for a G-A transition in intron 50 of the COL11A1 gene (IVS50+1G-A). The same mutation was present in his mildly affected mother; however, the amount of mutant allele was only about 20% of the wildtype allele in the mother's sample. Similar results were obtained with both lymphocytes and skin fibroblasts from the mother, strongly suggesting that the mutation was mosaic in the mother and that mosaicism was the reason for her less severe manifestations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 DEAFNESS, AUTOSOMAL DOMINANT 37</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A, IVS4AS, A-C, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs747787770,
|
|
|
|
|
|
gnomAD: rs747787770,
|
|
|
|
|
|
ClinVar: RCV000824676
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large 4-generation family of European descent with autosomal dominant deafness-37 (DFNA37; 618533), Booth et al. (2019) identified a heterozygous A-to-C transversion in intron 4 (c.652-2A-C, NM_080629.1) of the COL11A gene, resulting in a splice site alteration. The mutation, which was found by a combination of linkage analysis and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project, Exome Variant Server, ExAC, or gnomAD databases. Using a minigene construct to express the mutation in cell lines, the authors showed that the mutation resulted in the skipping of exon 5, causing an in-frame deletion and a peptide lacking residues 218 to 260 in the N-terminal propeptide. The mutation was predicted to affect all 5 transcripts of the gene, but possibly had a 'leaky' effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 DEAFNESS, AUTOSOMAL DOMINANT 37</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, IVS4, G-C, -1 ({dbSNP rs1064797115})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1064797115,
|
|
|
|
|
|
|
|
ClinVar: RCV000487702, RCV001375056, RCV001449577
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German father and daughter (family 1) with nonsyndromic prelingual sensorineural hearing loss (DFNA37; 618533), Rad et al. (2021) identified heterozygosity for a splicing mutation (c.652-1G-C, NM_080629.2) in intron 4 of the COL11A1 gene. An in vitro splicing assay revealed that the c.652-1C variant impacts splicing through the loss of an acceptor site and activation of 2 cryptic splice acceptor sites in exon 5 that cause in-frame deletions. TA cloning analysis showed that 67% of amplicons used the first cryptic splice site (r.652_663del; Gly218_Gln221del) and 33% of amplicons used the second cryptic acceptor site (r.652_666del; Gly218_Gln222del). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 DEAFNESS, AUTOSOMAL DOMINANT 37</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, IVS57, T-C, +2 ({dbSNP rs1553196233})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553196233,
|
|
|
|
|
|
|
|
ClinVar: RCV000585624, RCV001375057, RCV001449578
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German mother and son (family 2) with nonsyndromic prelingual sensorineural hearing loss (DFNA37; 618533), Rad et al. (2021) identified heterozygosity for a splicing mutation (c.4338+2T-C, NM_080629.2) in intron 57 of the COL11A1 gene. Neither of the mother's parents carried the mutation, suggesting that it arose de novo in the mother; paternity testing was not possible for confirmation. An in vitro splicing assay revealed that the c.4338+2C variant results in 3 abnormally spliced amplicons that include the activation of 2 cryptic splice donor sites in intron 57 and skipping of exon 57. In TA cloning analysis, 87% of amplicons showed evidence of skipping of exon 57, 6.5% used the first cryptic donor site (r.4338_4339ins4338+1_4338+4), and 6.5% used the second cryptic donor site (r.4338_4339ins4338+1_4338+30). </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 DEAFNESS, AUTOSOMAL DOMINANT 37</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL11A1, HIS165LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2102282139,
|
|
|
|
|
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ClinVar: RCV001449579, RCV004728726
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 affected members of a 4-generation Italian family with nonsyndromic pre- and postlingual sensorineural hearing loss (DFNA37; 618533), Ciorba et al. (2021) identified heterozygosity for a c.494A-T transversion (c.494A-T, NM_001854.3) in the COL11A1 gene, resulting in a his165-to-leu (H165L) substitution within the laminin G domain. The mutation segregated fully with disease in the family and was not found in the dbSNP, 1000 Genomes Project, ExAC, or gnomAD databases. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Stickler et al. (1965)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong>
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<strong>Cloning and sequencing of pro-alpha1(XI) collagen cDNA demonstrated that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue.</strong>
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<strong>Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.</strong>
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<strong>Marshall syndrome associated with a splicing defect at the COL11A1 gene.</strong>
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<strong>Mapping of a human fibrillar collagen gene, pro alpha-1(XI)(COL11A1), to the p21 region of chromosome 1.</strong>
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Li, Y., Lacerda, D. A., Warman, M. L., Beier, D. R., Yoshioka, H., Ninomiya, Y., Oxford, J. T., Morris, N. P., Andrikopoulos, K., Ramirez, F., Wardell, B. B., Lifferth, G. D., Teuscher, C., Woodward, S. R., Taylor, B. A., Seegmiller, R. E., Olsen, B. R.
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<strong>A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.</strong>
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Cell 80: 423-430, 1995.
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Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R.
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<strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong>
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Marshall, D.
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<strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong>
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Am. J. Ophthal. 45: 143-156, 1958.
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Martin, S., Richards, A. J., Yates, J. R. W., Scott, J. D., Pope, M., Snead, M. P.
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<strong>Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.</strong>
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<strong>A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.</strong>
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<strong>A third Stickler syndrome locus is linked to COL11A1, the gene encoding the alpha-1 subunit of collagen XI. (Abstract)</strong>
|
|
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</p>
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<p class="mim-text-font">
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Stickler, G. B., Belau, P. G., Farrell, F. J., Jones, J. D., Pugh, D. G., Steinberg, A. G., Ward, L. E.
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<strong>Hereditary progressive arthro-ophthalmopathy.</strong>
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<p class="mim-text-font">
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Tompson, S. W., Bacino, C. A., Safina, N. P., Bober, M. B., Proud, V. K., Funari, T., Wangler, M. F., Nevarez, L., Ala-Kokko, L., Wilcox, W. R., Eyre, D. R., Krakow, D., Cohn, D. H.
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<strong>Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.</strong>
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Warman, M. L., Tiller, G. E., Griffith, A. J.
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Zhidkova, N. I., Justice, S. K., Mayne, R.
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<strong>Alternative mRNA processing occurs in the variable region of the pro-alpha-1(XI) and pro-alpha-2(XI) collagen chains.</strong>
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<strong>Variability of Stickler syndrome.</strong>
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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">
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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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Marla J. F. O'Neill - updated : 05/24/2021<br>Cassandra L. Kniffin - updated : 08/11/2019<br>Marla J. F. O'Neill - updated : 11/9/2012<br>Nara Sobreira - updated : 2/23/2011<br>Victor A. McKusick - updated : 11/28/2007<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Jane Kelly - updated : 12/6/2002<br>Victor A. McKusick - updated : 11/24/1999<br>Victor A. McKusick - updated : 10/8/1999<br>Victor A. McKusick - updated : 12/14/1998<br>Victor A. McKusick - updated : 12/3/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Moyra Smith - updated : 10/18/1996
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Victor A. McKusick : 9/29/1987
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carol : 12/23/2024<br>alopez : 05/24/2021<br>carol : 08/13/2019<br>carol : 08/12/2019<br>ckniffin : 08/11/2019<br>carol : 05/21/2015<br>mcolton : 5/20/2015<br>carol : 3/12/2015<br>carol : 3/3/2015<br>carol : 11/12/2012<br>terry : 11/9/2012<br>carol : 8/7/2012<br>carol : 8/4/2011<br>carol : 2/23/2011<br>carol : 2/23/2011<br>alopez : 11/30/2007<br>terry : 11/28/2007<br>wwang : 7/6/2007<br>terry : 7/2/2007<br>carol : 12/6/2002<br>terry : 3/21/2001<br>carol : 12/21/2000<br>carol : 6/16/2000<br>carol : 4/17/2000<br>carol : 4/17/2000<br>carol : 11/29/1999<br>terry : 11/24/1999<br>alopez : 11/16/1999<br>alopez : 10/19/1999<br>terry : 10/8/1999<br>mgross : 3/16/1999<br>carol : 12/14/1998<br>carol : 12/10/1998<br>terry : 12/3/1998<br>terry : 7/24/1998<br>terry : 5/29/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>terry : 7/7/1997<br>mark : 11/25/1996<br>mark : 11/24/1996<br>mark : 11/24/1996<br>mark : 10/18/1996<br>joanna : 4/18/1996<br>mark : 10/13/1995<br>carol : 2/24/1995<br>jason : 6/7/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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