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Entry
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- *120290 - COLLAGEN, TYPE XI, ALPHA-2; COL11A2
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- OMIM
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<p>
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<span class="h4">*120290</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120290">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000204248;t=ENST00000341947" 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=1302" 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=120290" 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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<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=ENSG00000204248;t=ENST00000341947" 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_001163771,NM_001424108,NM_001424109,NM_001424110,NM_001424111,NM_001424112,NM_080679,NM_080680,NM_080681,NR_187605,XM_011514299,XM_011514300,XM_011514302,XM_017010250,XM_017010251,XM_047418183" 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_080680" 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=120290" 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=00376&isoform_id=00376_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/COL11A2" 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/180715,306440,1000745,1000746,1000747,1724041,1724042,3820987,31753096,34528175,66347235,66347236,111118968,111118970,111118972,119624081,119624082,119624083,254939712,374095517,767939247,767939249,767939253,1034648426,1034648431,1159610503,1159610505,1159610507,1159610509,1159610511,1159610513,1159610515,1159610517,1159610519,1159610521,1159610523,1159610525,1159610527,1159610529,1159610531,1159610533,1159610535,2217359580,2462492250,2462493205,2462493209,2462493215,2462493217,2462493219,2462493835,2462493837,2462493839,2462493841,2462493843,2462493845,2462493847,2462493849,2462494336,2462494338,2462494340,2462494344,2462494346,2462494348,2462494350,2462494352,2462494825,2462494827,2462494829,2462494831,2462494833,2462494835,2462494837,2462494839,2462605963,2462605965,2462605967,2462605971,2462605973,2462605975,2462605977,2462605979,2572895184,2572895188,2572895192,2572895194,2572895208" 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/P13942" 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=1302" 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=ENSG00000204248;t=ENST00000341947" 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=COL11A2" 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=COL11A2" 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+1302" 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/COL11A2" 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:1302" 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/1302" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000341947.7&hgg_start=33162694&hgg_end=33193519&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/genes/HGNC:2187" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/col11a2" 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=120290[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=120290[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/COL11A2/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/ENSG00000204248" 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=COL11A2" 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=COL11A2" 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=COL11A2" 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="http://webh01.ua.ac.be/hhh/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=COL11A2&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/PA26703" 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:2187" 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:88447" 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/COL11A2#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:88447" 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/1302/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/OMIA001772/" 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=1302" 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-000208-23" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1302" 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=COL11A2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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120290
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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-2; COL11A2
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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=COL11A2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL11A2</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/6/383?start=-3&limit=10&highlight=383">6p21.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:33162694-33193519&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:33,162,694-33,193,519</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=601868,609706,614524,184840,215150" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/383?start=-3&limit=10&highlight=383">
|
|
6p21.32
|
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</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal dominant 13
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601868"> 601868 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 53
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/609706"> 609706 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Fibrochondrogenesis 2
|
|
|
|
</span>
|
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</td>
|
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<td>
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<p>Type XI collagen, a fibril-forming collagen found mainly in the cartilage extracellular matrix, is important for the integrity and development of the skeleton (summary by <a href="#12" class="mim-tip-reference" title="Lui, V. C. H., Ng, L. J., Sat, E. W. Y., Cheah, K. S. E. <strong>The human alpha-2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.</strong> Genomics 32: 401-412, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8838804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8838804</a>] [<a href="https://doi.org/10.1006/geno.1996.0135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8838804">Lui et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8838804" 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="Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M.-G., van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., Olsen, B. R. <strong>The human alpha-2(XI) collagen (COL11A2) chain: molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.</strong> J. Biol. Chem. 264: 13910-13916, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760050</a>]" pmid="2760050">Kimura et al. (1989)</a> cloned human COL11A2, which encodes a deduced protein with high sequence similarity to COL11A1 (<a href="/entry/120280">120280</a>). By Northern blot analysis, <a href="#9" class="mim-tip-reference" title="Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M.-G., van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., Olsen, B. R. <strong>The human alpha-2(XI) collagen (COL11A2) chain: molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.</strong> J. Biol. Chem. 264: 13910-13916, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760050</a>]" pmid="2760050">Kimura et al. (1989)</a> showed that COL11A2 is expressed in cartilage but not in adult liver, skin, and tendon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2760050" 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>Law et al. (<a href="#10" class="mim-tip-reference" title="Law, M. L., Chan, S. D. H., Berger, R., Jones, C. A., Kao, F. T., Solomon, E., Cheah, K. S. E. <strong>The gene for the alpha2 chain of the human fibrillar collagen, type XI (COL11A2) is on the short arm of chromosome 6. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1029-1030, 1989."None>1989</a>, <a href="#11" class="mim-tip-reference" title="Law, M. L., Chan, S. D. H., Berger, R., Jones, C., Kao, F. T., Solomon, E., Cheah, K. S. E. <strong>The gene for the alpha-2 chain of the human fibrillar collagen type XI (COL11A2) assigned to the short arm of chromosome 6.</strong> Ann. Hum. Genet. 54: 23-29, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2321911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2321911</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1990.tb00357.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2321911">1990</a>) used a cosmid clone containing the COL11A2 gene as a probe in the Southern blot analysis of DNA from a panel of human/hamster somatic cell hybrids containing different numbers and combinations of human chromosomes. They concluded that the gene is located on chromosome 6, and study of a cell hybrid containing only 6q indicated that the COL11A2 gene is on 6p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2321911" 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 a combination of somatic cell hybrid mapping and in situ hybridization, Hanson et al. (<a href="#4" class="mim-tip-reference" title="Hanson, I. M., Cheah, K. S. E., Gorman, P. A., Solomon, E., Trowsdale, J. <strong>The pro-alpha2(XI) collagen gene, COL11A2, maps to the centromeric border of the major histocompatibility complex. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1010-1011, 1989."None>1989</a>, <a href="#5" class="mim-tip-reference" title="Hanson, I. M., Gorman, P., Lui, V. C. H., Cheah, K. S. E., Solomon, E., Trowsdale, J. <strong>The human alpha-2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.</strong> Genomics 5: 925-931, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2591970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2591970</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90135-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2591970">1989</a>) localized the COL11A2 gene to 6p21.3. By physical mapping of the class II HLA region using pulsed field gel electrophoresis, <a href="#6" class="mim-tip-reference" title="Hanson, I. M., Poustka, A., Trowsdale, J. <strong>New genes in the class II region of the human major histocompatibility complex.</strong> Genomics 10: 417-424, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1906426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1906426</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90327-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1906426">Hanson et al. (1991)</a> demonstrated that the COL11A2 gene is about 45 kb centromeric to HLA-DPA1 (<a href="/entry/142880">142880</a>) and is transcribed in the opposite (i.e., telomeric) direction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1906426+2591970" 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="#9" class="mim-tip-reference" title="Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M.-G., van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., Olsen, B. R. <strong>The human alpha-2(XI) collagen (COL11A2) chain: molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.</strong> J. Biol. Chem. 264: 13910-13916, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760050</a>]" pmid="2760050">Kimura et al. (1989)</a> assigned the COL11A2 gene to 6p21.2 by in situ hybridization. The nucleotide sequence showed that although type XI collagen belongs to the fibril-forming class of collagens, there are substantial differences in exon sizes at the 3-prime end of the gene when comparing the COL11A2 gene with the genes for types I, II, and III collagens. It is thought that the alpha-3 chain of type XI collagen is a posttranslational variant of the type II, or cartilage, collagen subunit, i.e., is encoded by the COL2A1 gene (<a href="/entry/120140">120140</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2760050" 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="#20" class="mim-tip-reference" title="Stubbs, L., Lui, V. C. H., Ng, L. J., Cheah, K. S. E. <strong>The alpha-2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex.</strong> Mammalian Genome 4: 95-103, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431643</a>] [<a href="https://doi.org/10.1007/BF00290433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8431643">Stubbs et al. (1993)</a> showed that the homologous gene in the mouse is also 'embedded' within the major histocompatibility complex on chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8431643" 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="#26" class="mim-tip-reference" title="Vuoristo, M. M., Pihlajamaa, T., Vandenberg, P., Prockop, D. J., Ala-Kokko, L. <strong>The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.</strong> J. Biol. Chem. 270: 22873-22881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7559422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7559422</a>] [<a href="https://doi.org/10.1074/jbc.270.39.22873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7559422">Vuoristo et al. (1995)</a> analyzed the COL11A2 gene from 2 overlapping cosmid clones that had previously been isolated in the course of searching the human major histocompatibility region. Nucleotide sequence defined over 28,000 bp of the gene. It was shown to contain 66 exons. As with most genes for fibrillar collagens, the first intron was among the largest, and the introns at the 5-prime end of the gene were in general larger than the introns at the 3-prime end. Analysis of the exons coding for the major triple helical domain indicated that the gene structure had not evolved with the genes for the major fibrillar collagen and that there were marked differences in the number of exons, the exon sizes, and codon usage. The gene was located close to the gene for the retinoid X receptor beta (<a href="/entry/180246">180246</a>) in a head-to-tail arrangement similar to that previously seen with the 2 mouse genes. Also, there was marked interspecies homology in the intergenic sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7559422" 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="#12" class="mim-tip-reference" title="Lui, V. C. H., Ng, L. J., Sat, E. W. Y., Cheah, K. S. E. <strong>The human alpha-2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.</strong> Genomics 32: 401-412, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8838804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8838804</a>] [<a href="https://doi.org/10.1006/geno.1996.0135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8838804">Lui et al. (1996)</a> showed that COL11A2 contains at least 62 exons spanning 30.5 kb. The gene differs from other collagens in that the amino propeptide is encoded by 14 exons rather than the usual 5 to 8. The promoter is GC-rich and lacks a TATA box. The authors believed that the gene is likely to undergo alternative splicing. The gene lies within the MHC region and is only 1.1-kb from the retinoid X receptor-beta (<a href="/entry/180246">180246</a>) and about 40 kb from DPB2 (<a href="/entry/142880">142880</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8838804" 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="#16" class="mim-tip-reference" title="Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L. <strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong> Am. J. Hum. Genet. 66: 368-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10677296[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/10.1086/302750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677296">Melkoniemi et al. (2000)</a> stated that in spite of partial overlap between the Stickler (see <a href="/entry/108300">108300</a>), Marshall (<a href="/entry/154780">154780</a>), Weissenbacher-Zweymuller (OSMEDA; <a href="/entry/184840">184840</a>), and otospondylomegaepiphyseal dysplasia (OSMEDB; <a href="/entry/215150">215150</a>) phenotypes caused by mutations in the COL2A1 (<a href="/entry/120140">120140</a>), COL11A1 (<a href="/entry/120280">120280</a>), and COL11A2 genes, absence of eye involvement in patients carrying COL11A2 mutations is noteworthy. This was best explained by the finding that the COL11A2 gene is not expressed in the vitreous body and that the COL5A2 (<a href="/entry/120190">120190</a>) chain replaces the COL11A2 chain in the ocular vitreous (<a href="#14" class="mim-tip-reference" title="Mayne, R., Brewton, R. G., Mayne, P. M., Baker, J. R. <strong>Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous.</strong> J. Biol. Chem. 268: 9381-9386, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486632</a>]" pmid="8486632">Mayne et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8486632+10677296" 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>Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L. <strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong> Am. J. Med. Genet. 80: 115-120, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805126">Pihlajamaa et al. (1998)</a> demonstrated that the original patient with Weissenbacher-Zweymuller syndrome (WZS) (<a href="#27" class="mim-tip-reference" title="Weissenbacher, G., Zweymuller, E. <strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong> Mschr. Kinderheilk. 112: 315-317, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>]" pmid="14234962">Weissenbacher and Zweymuller, 1964</a>) had a heterozygous mutation in the COL11A2 gene (<a href="#0004">120290.0004</a>). They noted phenotypic overlap between WZS and a disorder called 'nonocular Stickler syndrome,' which was also found to be caused by heterozygous mutation in the COL11A2 gene. <a href="#17" class="mim-tip-reference" title="Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L. <strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong> Am. J. Med. Genet. 80: 115-120, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805126">Pihlajamaa et al. (1998)</a> and <a href="#19" class="mim-tip-reference" title="Spranger, J. <strong>The type XI collagenopathies.</strong> Pediat. Radiol. 28: 745-750, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799295</a>] [<a href="https://doi.org/10.1007/s002470050459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9799295">Spranger (1998)</a> concluded that the disorders are identical and proposed the designation autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; <a href="/entry/184840">184840</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9799295+14234962+9805126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of the large Dutch family who had skeletal and otologic features of Stickler syndrome but no eye abnormalities, previously reported by <a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a>, <a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> identified a heterozygous mutation in the COL11A2 gene (<a href="#0001">120290.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7859284+7833911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with a Stickler syndrome phenotype without eye involvement, <a href="#18" class="mim-tip-reference" title="Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H. <strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong> J. Pediat. 132: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70466-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9506662">Sirko-Osadsa et al. (1998)</a> identified heterozygosity for a 27-bp deletion in the COL11A2 gene (<a href="#0003">120290.0003</a>). The affected family members had sensorineural hearing loss, cleft palate/uvula, micrognathia, malar flattening, joint pains, and multiple hereditary exostoses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" 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>Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> studied a Dutch kindred in which 3 sibs of a consanguineous mating had a severe degenerative joint disease resembling osteoarthritis that presented in early adulthood and affected predominantly the hips, knees, elbows, and shoulders (OSMEDB; <a href="/entry/215150">215150</a>). <a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> found that the mutation in these sibs was a homozygous gly175-to-arg mutation of the COL11A2 gene (<a href="#0002">120290.0002</a>). <a href="#23" class="mim-tip-reference" title="van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 70: 315-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188673</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9188673">van Steensel et al. (1997)</a> described the clinical and radiographic features of otospondylomegaepiphyseal dysplasia in these sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9188673+7859284" 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="#16" class="mim-tip-reference" title="Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L. <strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong> Am. J. Hum. Genet. 66: 368-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10677296[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/10.1086/302750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677296">Melkoniemi et al. (2000)</a> reported 7 families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, very flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. A different mutation of the COL11A2 gene was identified in each family. In 4 families, including 3 with consanguineous parents, the mutations were homozygous. Individuals in 3 other families, in which parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 were predicted to cause premature termination of translation, and 1 was predicted to cause an in-frame deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10677296" 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 an Egyptian brother and sister with OSMED, <a href="#21" class="mim-tip-reference" title="Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 140A: 1189-1195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>] [<a href="https://doi.org/10.1002/ajmg.a.31205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16637051">Temtamy et al. (2006)</a> identified homozygosity for a 1-bp deletion in the COL11A2 gene (<a href="#0011">120290.0011</a>). The first-cousin parents were heterozygous for the deletion; a younger brother was unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" 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>Deafness, Autosomal Dominant 13</em></strong></p><p>
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In 2 families, 1 American and 1 Dutch, with autosomal dominant, nonsyndromic hearing loss (DFNA13; <a href="/entry/601868">601868</a>) previously been mapped to 6p, <a href="#15" class="mim-tip-reference" title="McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. <strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong> Nature Genet. 23: 413-419, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581026</a>] [<a href="https://doi.org/10.1038/70516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581026">McGuirt et al. (1999)</a> identified heterozygous mutations in the COL11A2 gene (<a href="#0005">120290.0005</a>-<a href="#0006">120290.0006</a>) that were predicted to affect the triple-helix domain of the collagen protein. <a href="#15" class="mim-tip-reference" title="McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. <strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong> Nature Genet. 23: 413-419, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581026</a>] [<a href="https://doi.org/10.1038/70516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581026">McGuirt et al. (1999)</a> found that mice with a targeted disruption of Col11a2 also showed hearing loss. Electron microscopy of the tectorial membrane of these mice revealed loss of organization of the collagen fibrils. The findings revealed a unique ultrastructural malformation of the inner ear architecture associated with nonsyndromic hearing loss, and suggested that tectorial membrane abnormalities may be one etiology of sensorineural hearing loss primarily affecting the mid-frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581026" 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>Deafness, Autosomal Recessive 53</em></strong></p><p>
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In 5 affected members of 2 sibships of a consanguineous Iranian family (family L622) with nonsyndromic hearing loss (DFNB53; <a href="/entry/609706">609706</a>), <a href="#3" class="mim-tip-reference" title="Chen, W., Kahrizi, K., Meyer, N. C., Riazalhosseini, Y., Van Camp, G., Najmabadi, H., Smith, R. J. H. <strong>Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.</strong> J. Med. Genet. 42: e61, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16033917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16033917</a>] [<a href="https://doi.org/10.1136/jmg.2005.032615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16033917">Chen et al. (2005)</a> identified homozygosity for a missense mutation in the COL11A2 gene (P621T; <a href="#0010">120290.0010</a>). The mutation segregated with deafness in both sibships. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16033917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Tunisian family and a Turkish family with nonsyndromic hearing loss, <a href="#2" class="mim-tip-reference" title="Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., II, Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S., Liu, X. Z. <strong>Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.</strong> Molec. Genet. Genomics 290: 1327-1334, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633957</a>] [<a href="https://doi.org/10.1007/s00438-015-0995-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25633957">Chakchouk et al. (2015)</a> identified homozygosity for 2 different missense mutations in the COL11A2 gene (<a href="#0014">120290.0014</a>; <a href="#0015">120290.0015</a>) that segregated with disease in the respective families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633957" 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 2</em></strong></p><p>
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In a deceased infant with fibrochondrogenesis (FBCG2; <a href="/entry/614524">614524</a>), born of consanguineous parents, <a href="#22" class="mim-tip-reference" title="Tompson, S. W., Faqeih, E. A., Ala-Kokko, L., Hecht, J. T., Miki, R., Funari, T., Funari, V. A., Nevarez, L., Krakow, D., Cohn, D. H. <strong>Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.</strong> Am. J. Med. Genet. 158A: 309-314, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246659[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.34406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246659">Tompson et al. (2012)</a> identified homozygosity for a splice site mutation in the COL11A2 gene (<a href="#0012">120290.0012</a>). In another deceased infant with fibrochondrogenesis, who was born of healthy nonconsanguineous parents, they identified heterozygosity for a 9-bp deletion (<a href="#0013">120290.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Among Japanese, ossification of the posterior longitudinal ligament of the spine (OPLL; <a href="/entry/602475">602475</a>) is a leading cause of myelopathy, showing ectopic bone formation in the paravertebral ligament. <a href="#13" class="mim-tip-reference" title="Maeda, S., Koga, H., Matsunaga, S., Numasawa, T., Ikari, K., Furushima, K., Harata, S., Takeda, J., Sakou, T., Komiya, S., Inoue, I. <strong>Gender-specific haplotype association of collagen alpha-2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.</strong> J. Hum. Genet. 46: 1-4, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11289713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11289713</a>] [<a href="https://doi.org/10.1007/s100380170117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11289713">Maeda et al. (2001)</a> provided genetic evidence that the COL11A2 locus constitutes susceptibility for OPLL. Five distinct SNPs identified in COL11A2 were combined to construct haplotypes. A male-specific association with a COL11A2 haplotype was found with OPLL. In a case-control study of 711 Japanese individuals with OPLL and 896 controls, <a href="#8" class="mim-tip-reference" title="Horikoshi, T., Maeda, K., Kawaguchi, Y., Chiba, K., Mori, K., Koshizuka, Y., Hirabayashi, S., Sugimori, K., Matsumoto, M., Kawaguchi, H., Takahashi, M., Inoue, H., Kimura, T., Matsusue, Y., Inoue, I., Baba, H., Nakamura, K., Ikegawa, S. <strong>A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.</strong> Hum. Genet. 119: 611-616, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16609882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16609882</a>] [<a href="https://doi.org/10.1007/s00439-006-0170-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16609882">Horikoshi et al. (2006)</a> found no association between 2 SNPs in the COL11A2 gene and OPLL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16609882+11289713" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>15 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120290[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs750995470 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750995470;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/rs750995470?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=rs750995470" 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=rs750995470" 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 large Dutch kindred with a phenotype resembling Stickler syndrome but without eye abnormalities (OSMEDA; <a href="/entry/184840">184840</a>), which was found by <a href="#1" class="mim-tip-reference" title="Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M. <strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong> Hum. Molec. Genet. 3: 1561-1564, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833911">Brunner et al. (1994)</a> to map to the same region of 6p as the COL11A2 gene, <a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> found heterozygosity for a 1-bp change at the exon-intron boundary such that the intronic donor-site sequence, GTGAG, was replaced by ATGAG. This change created a novel NlaIII restriction site in the genomic sequence. The G-to-A transition resulted in a 54-bp in-frame deletion, which represented deletion of the exon 5-prime of the mutation. This exon sequence was located 108 nucleotides upstream of the junction between sequences encoding the triple-helical and C-propeptide domains of the alpha-2(XI) chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7859284+7833911" 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> rs121912945 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912945;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/rs121912945?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=rs121912945" 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=rs121912945" 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=RCV000018658 OR RCV001851920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018658, RCV001851920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018658...</a>
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<p><a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> studied a Dutch kindred in which 3 sibs had a severe degenerative joint disease resembling osteoarthritis that presented in early adulthood and affected predominantly the hips, knees, elbows, and shoulders (OSMEDB; <a href="/entry/215150">215150</a>). The spine was less severely affected, and adult height was only slightly below that of the unaffected sibs. There was increased lumbar lordosis and prominent interphalangeal joints. Short fifth metacarpals were found in all 3 sibs. The patients had distinctive facial features with midface hypoplasia with a short upturned nose, prominent eyes, depressed nasal bridge, and prominent supraorbital ridges. Sensorineural hearing loss was present from birth and required the use of hearing aids in all 3 affected sibs. None of the 3 had myopia or vitreoretinal degeneration. The parents were fourth cousins. The affected sibs were found to be homozygous for an extended haplotype of 7 CA dinucleotide repeat polymorphisms from 6p21 near the COL11A2 locus. Using conservative estimates of 0.002 for the frequency of the abnormal allele and 0.005 for the frequency of the marker haplotype, <a href="#24" class="mim-tip-reference" title="Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G. <strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong> Cell 80: 431-437, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90493-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7859284">Vikkula et al. (1995)</a> obtained a lod score of 3.09 at theta = 0.0 for linkage of the disease phenotype to 6p21. To find the mutation causing the autosomal recessive disorder, they used RT-PCR with total RNA extracted from EBV-transformed lymphoblasts, and the complete coding sequence of the COL11A2 gene was determined for 1 individual. This identified a G-to-A transition, converting a glycyl to an arginyl codon, within the triple-helical domain of the alpha-2(XI) chain. The change in sequence eliminated an MspI restriction site. Affected children were homozygous for the arginyl codon, while unaffected children were homozygous for the glycyl codon; both parents were heterozygous for the sequence change. The mutation occurred in a Gly-X-Y triplet. The clinical findings in the 3 sibs with the gly175-to-arg missense mutation were described by <a href="#23" class="mim-tip-reference" title="van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 70: 315-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188673</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9188673">van Steensel et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9188673+7859284" 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">rs864309477 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309477;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=rs864309477" 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=rs864309477" 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 family with a syndrome resembling Stickler syndrome but without eye anomalies (OSMEDA; <a href="/entry/184840">184840</a>), <a href="#18" class="mim-tip-reference" title="Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H. <strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong> J. Pediat. 132: 368-371, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70466-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9506662">Sirko-Osadsa et al. (1998)</a> identified a heterozygous 27-bp deletion within exon 39 of the COL11A2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</strong>
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COL11A2, GLY955GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912946 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912946;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=rs121912946" 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=rs121912946" 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=RCV000018660" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018660" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018660</a>
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<p>In the original patient with Weissenbacher-Zweymuller syndrome (WZS; <a href="#27" class="mim-tip-reference" title="Weissenbacher, G., Zweymuller, E. <strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong> Mschr. Kinderheilk. 112: 315-317, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>]" pmid="14234962">Weissenbacher and Zweymuller, 1964</a>), now designated autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; <a href="/entry/184840">184840</a>), <a href="#17" class="mim-tip-reference" title="Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L. <strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong> Am. J. Med. Genet. 80: 115-120, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9805126">Pihlajamaa et al. (1998)</a> identified heterozygosity for G-to-A transition in the COL11A2 gene that converted codon 955 from an obligate glycine (GGG) in the major triple helix of the protein to a codon for glutamate (GAG). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14234962+9805126" 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>.0005 DEAFNESS, AUTOSOMAL DOMINANT 13</strong>
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COL11A2, ARG549CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912947;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=rs121912947" 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=rs121912947" 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=RCV000018662 OR RCV000605765 OR RCV001091818 OR RCV003398542" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018662, RCV000605765, RCV001091818, RCV003398542" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018662...</a>
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<p>In affected members of an American family with autosomal dominant nonsyndromic sensorineural hearing loss (DFNA13; <a href="/entry/601868">601868</a>), <a href="#15" class="mim-tip-reference" title="McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. <strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong> Nature Genet. 23: 413-419, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581026</a>] [<a href="https://doi.org/10.1038/70516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581026">McGuirt et al. (1999)</a> identified a heterozygous C-to-T missense mutation in exon 42 that predicted an arg549-to-cys amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 DEAFNESS, AUTOSOMAL DOMINANT 13</strong>
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COL11A2, GLY323GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912948;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=rs121912948" 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=rs121912948" 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=RCV000018663" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018663" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018663</a>
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<p>In affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness (DFNA13; <a href="/entry/601868">601868</a>), <a href="#15" class="mim-tip-reference" title="McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H. <strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong> Nature Genet. 23: 413-419, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581026</a>] [<a href="https://doi.org/10.1038/70516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581026">McGuirt et al. (1999)</a> found a heterozygous G-to-A transition in exon 31 that predicted a gly323-to-glu amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581026" 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>.0007 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</strong>
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COL11A2, SER345TER
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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> rs121912949 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912949;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/rs121912949?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=rs121912949" 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=rs121912949" 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=RCV000018664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018664</a>
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<p>In a family from Morocco with consanguineous parents, <a href="#16" class="mim-tip-reference" title="Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L. <strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong> Am. J. Hum. Genet. 66: 368-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10677296[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/10.1086/302750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677296">Melkoniemi et al. (2000)</a> found that 3 children with otospondylomegaepiphyseal dysplasia (OSMEDB; <a href="/entry/215150">215150</a>) were homozygous for a C-to-A transversion at nucleotide 2492 in exon 33 of the COL11A2 gene, resulting in a ser345-to-ter substitution. One of the children was described as having normal body length at birth, but short limbs with enlarged joints and stiff interphalangeal joints were noted. The radiologic features included vertebral coronal clefts, square iliac wings and a thick ischium, large metaphyses of the long bones, and enlarged epiphyses of the elbows and knees. At age 7 years, she was of nearly normal height, but disproportionate, and her palate was extremely narrow, with a double row of teeth. Eye examination revealed slight myopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10677296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</strong>
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COL11A2, ARG893TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912950 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912950;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=rs121912950" 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=rs121912950" 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=RCV000018665 OR RCV000761299 OR RCV001268065 OR RCV004748528" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018665, RCV000761299, RCV001268065, RCV004748528" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018665...</a>
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<p>In affected members of a 3-generation family with a disorder resembling Stickler syndrome but without eye anomalies (OSMEDA; <a href="/entry/184840">184840</a>), <a href="#25" class="mim-tip-reference" title="Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L. <strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong> Am. J. Med. Genet. 130A: 160-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372529</a>] [<a href="https://doi.org/10.1002/ajmg.a.30111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15372529">Vuoristo et al. (2004)</a> identified a heterozygous C-to-T transition in exon 57 of the COL11A2 gene, resulting in an arg893-to-ter (R893X) substitution. The mutation induced skipping of exon 57 in 1 allele, resulting in an in-frame deletion of 18 amino acids. Sensorineural hearing loss was present in all 3 generations. The propositus was a 4-year-old boy who had Robin sequence at birth. Both the propositus and his father had a flat malar area and nasal bridge, and the nose was upturned. The father had symptoms and radiologic findings of osteoarthritis from the age of 29 years. At age 73 years, the affected grandmother showed extensive osteoarthritic changes in the spine. Her father had undergone hip replacement in mid-adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372529" 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>.0009 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912951 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912951;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/rs121912951?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=rs121912951" 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=rs121912951" 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=RCV000018666 OR RCV002496405 OR RCV002513107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018666, RCV002496405, RCV002513107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018666...</a>
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<p>In male twins with otospondylomegaepiphyseal dysplasia (OSMEDB; <a href="/entry/215150">215150</a>), who were born to nonconsanguineous parents of northern European descent, <a href="#16" class="mim-tip-reference" title="Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L. <strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong> Am. J. Hum. Genet. 66: 368-377, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10677296[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/10.1086/302750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677296">Melkoniemi et al. (2000)</a> identified compound heterozygous mutations in the COL11A2 gene: a 3991C-T transition, resulting in an arg845-to-ter (R845X) substitution, inherited from the father, and a splice site mutation (IVS53+5G-A) inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10677296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 individuals from a consanguineous Israeli Bedouin family with OSMED, who had a clinical diagnosis of autosomal recessive Weissenbacher-Zweymuller syndrome, <a href="#7" class="mim-tip-reference" title="Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S. <strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong> Am. J. Med. Genet. 132A: 33-35, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558753</a>] [<a href="https://doi.org/10.1002/ajmg.a.30371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558753">Harel et al. (2005)</a> identified homozygosity for the R845X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558753" 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> rs121912952 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912952;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/rs121912952?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=rs121912952" 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=rs121912952" 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=RCV000018667 OR RCV000217775 OR RCV000584845 OR RCV001375391 OR RCV004791228 OR RCV005042063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018667, RCV000217775, RCV000584845, RCV001375391, RCV004791228, RCV005042063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018667...</a>
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<p>In 5 affected members of 2 sibships of a consanguineous Iranian family (family L622) with nonsyndromic hearing loss (DFNB53; <a href="/entry/609706">609706</a>), <a href="#3" class="mim-tip-reference" title="Chen, W., Kahrizi, K., Meyer, N. C., Riazalhosseini, Y., Van Camp, G., Najmabadi, H., Smith, R. J. H. <strong>Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.</strong> J. Med. Genet. 42: e61, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16033917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16033917</a>] [<a href="https://doi.org/10.1136/jmg.2005.032615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16033917">Chen et al. (2005)</a> identified homozygosity for an 1861C-A transversion in exon 21 of the COL11A2 gene, resulting in a pro621-to-thr (P621T) substitution near the N terminus of the triple helical region. The mutation segregated with hearing loss in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16033917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</strong>
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COL11A2, 1-BP DEL, 3962G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1562315748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562315748;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=rs1562315748" 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=rs1562315748" 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=RCV000018668" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018668" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018668</a>
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<p>In an Egyptian brother and sister with otospondylomegaepiphyseal dysplasia B (OSMEDB; <a href="/entry/215150">215150</a>), <a href="#21" class="mim-tip-reference" title="Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H. <strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong> Am. J. Med. Genet. 140A: 1189-1195, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>] [<a href="https://doi.org/10.1002/ajmg.a.31205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16637051">Temtamy et al. (2006)</a> identified homozygosity for a 1-bp deletion (3962delG) in exon 55 of the COL11A2 gene, resulting in a termination codon in exon 56. The first-cousin parents were heterozygous for the deletion; a younger brother was unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" 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">rs2150577320 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2150577320;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=rs2150577320" 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=rs2150577320" 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=RCV000022498" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022498" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022498</a>
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<p>In a deceased infant with fibrochondrogenesis-2 (FBCG2; <a href="/entry/614524">614524</a>), born of consanguineous parents, <a href="#22" class="mim-tip-reference" title="Tompson, S. W., Faqeih, E. A., Ala-Kokko, L., Hecht, J. T., Miki, R., Funari, T., Funari, V. A., Nevarez, L., Krakow, D., Cohn, D. H. <strong>Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.</strong> Am. J. Med. Genet. 158A: 309-314, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246659[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.34406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246659">Tompson et al. (2012)</a> identified homozygosity for a 1-bp insertion in intron 18 (+3insG) of the COL11A2 gene, predicted to result in aberrant mRNA processing. The unaffected parents were heterozygous for the mutation, as was an unaffected sib. An exon trapping splicing assay in COS-7 cells demonstrated skipping of exon 18 in RNA from the mutant construct but not from the control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246659" 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">rs2150551158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2150551158;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=rs2150551158" 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=rs2150551158" 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=RCV000022499" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022499" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022499</a>
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<p>In a deceased infant with fibrochondrogenesis-2 (FBCG2; <a href="/entry/614524">614524</a>), born of healthy nonconsanguineous parents, <a href="#22" class="mim-tip-reference" title="Tompson, S. W., Faqeih, E. A., Ala-Kokko, L., Hecht, J. T., Miki, R., Funari, T., Funari, V. A., Nevarez, L., Krakow, D., Cohn, D. H. <strong>Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.</strong> Am. J. Med. Genet. 158A: 309-314, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246659[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.34406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246659">Tompson et al. (2012)</a> identified heterozygosity for a de novo 9-bp deletion (2899_2907del9), predicted to delete 3 amino acids within the triple helical domain. The mutation was not present in the unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246659" 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>.0014 DEAFNESS, AUTOSOMAL RECESSIVE 53</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs606231410 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231410;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/rs606231410?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=rs606231410" 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=rs606231410" 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=RCV000148342 OR RCV000202598 OR RCV003556192" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000148342, RCV000202598, RCV003556192" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000148342...</a>
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<p>In 4 affected members of a large consanguineous Tunisian family (family FT3) with prelingual profound sensorineural hearing loss (DFNB53; <a href="/entry/609706">609706</a>), <a href="#2" class="mim-tip-reference" title="Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., II, Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S., Liu, X. Z. <strong>Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.</strong> Molec. Genet. Genomics 290: 1327-1334, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633957</a>] [<a href="https://doi.org/10.1007/s00438-015-0995-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25633957">Chakchouk et al. (2015)</a> identified homozygosity for a c.109G-T transversion (c.109G-T, NM_080680.2) in the COL11A2 gene, resulting in an ala37-to-ser (A37S) substitution at a highly conserved residue within the alpha-2 helix in the NC4 domain. The mutation segregated fully with disease in the family and was not found in 113 Tunisian controls or in the Exome Variant Server or dbSNP databases. Family members who were heterozygous carriers of A37S exhibited apparently progressive sensorineural hearing loss after age 30 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633957" 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 RECESSIVE 53</strong>
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COL11A2, PRO888THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864309523 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309523;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=rs864309523" 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=rs864309523" 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=RCV000202578" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202578" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202578</a>
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<p>In 2 Turkish sisters (family 262) with prelingual profound sensorineural hearing loss (DFNB53; <a href="/entry/609706">609706</a>), <a href="#2" class="mim-tip-reference" title="Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., II, Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S., Liu, X. Z. <strong>Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.</strong> Molec. Genet. Genomics 290: 1327-1334, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633957</a>] [<a href="https://doi.org/10.1007/s00438-015-0995-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25633957">Chakchouk et al. (2015)</a> identified homozygosity for a c.2662C-A transversion (c.2662C-A, NM_080680.2) in the COL11A2 gene, resulting in a pro888-to-thr (P888T) substitution at a highly conserved residue in the triple helical region. The mutation was present in heterozygosity in their unaffected consanguineous parents and their unaffected sister, but was not found in 178 Turkish controls or in the Exome Variant Server or dbSNP databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633957" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Brunner1994" class="mim-anchor"></a>
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Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M.
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<strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong>
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Hum. Molec. Genet. 3: 1561-1564, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833911" 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/10.1093/hmg/3.9.1561" target="_blank">Full Text</a>]
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<a id="Chakchouk2015" class="mim-anchor"></a>
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Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., II, Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S., Liu, X. Z.
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<strong>Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.</strong>
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Molec. Genet. Genomics 290: 1327-1334, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00438-015-0995-9" target="_blank">Full Text</a>]
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<a id="Chen2005" class="mim-anchor"></a>
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Chen, W., Kahrizi, K., Meyer, N. C., Riazalhosseini, Y., Van Camp, G., Najmabadi, H., Smith, R. J. H.
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<strong>Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.</strong>
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J. Med. Genet. 42: e61, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16033917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16033917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16033917" 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/10.1136/jmg.2005.032615" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hanson1989" class="mim-anchor"></a>
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<div class="">
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Hanson, I. M., Cheah, K. S. E., Gorman, P. A., Solomon, E., Trowsdale, J.
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<strong>The pro-alpha2(XI) collagen gene, COL11A2, maps to the centromeric border of the major histocompatibility complex. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1010-1011, 1989.
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<a id="Hanson1989" class="mim-anchor"></a>
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Hanson, I. M., Gorman, P., Lui, V. C. H., Cheah, K. S. E., Solomon, E., Trowsdale, J.
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<strong>The human alpha-2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.</strong>
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Genomics 5: 925-931, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2591970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2591970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2591970" 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/10.1016/0888-7543(89)90135-3" target="_blank">Full Text</a>]
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<a id="Hanson1991" class="mim-anchor"></a>
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Hanson, I. M., Poustka, A., Trowsdale, J.
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<strong>New genes in the class II region of the human major histocompatibility complex.</strong>
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Genomics 10: 417-424, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1906426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1906426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1906426" 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/10.1016/0888-7543(91)90327-b" target="_blank">Full Text</a>]
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<a id="Harel2005" class="mim-anchor"></a>
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Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S.
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<strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong>
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Am. J. Med. Genet. 132A: 33-35, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558753" 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.30371" target="_blank">Full Text</a>]
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<a id="Horikoshi2006" class="mim-anchor"></a>
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Horikoshi, T., Maeda, K., Kawaguchi, Y., Chiba, K., Mori, K., Koshizuka, Y., Hirabayashi, S., Sugimori, K., Matsumoto, M., Kawaguchi, H., Takahashi, M., Inoue, H., Kimura, T., Matsusue, Y., Inoue, I., Baba, H., Nakamura, K., Ikegawa, S.
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<strong>A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.</strong>
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Hum. Genet. 119: 611-616, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16609882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16609882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16609882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-006-0170-9" target="_blank">Full Text</a>]
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<a id="Kimura1989" class="mim-anchor"></a>
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Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M.-G., van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., Olsen, B. R.
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<strong>The human alpha-2(XI) collagen (COL11A2) chain: molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.</strong>
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J. Biol. Chem. 264: 13910-13916, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2760050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Law1989" class="mim-anchor"></a>
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<p class="mim-text-font">
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Law, M. L., Chan, S. D. H., Berger, R., Jones, C. A., Kao, F. T., Solomon, E., Cheah, K. S. E.
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<strong>The gene for the alpha2 chain of the human fibrillar collagen, type XI (COL11A2) is on the short arm of chromosome 6. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1029-1030, 1989.
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<a id="11" class="mim-anchor"></a>
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<a id="Law1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Law, M. L., Chan, S. D. H., Berger, R., Jones, C., Kao, F. T., Solomon, E., Cheah, K. S. E.
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<strong>The gene for the alpha-2 chain of the human fibrillar collagen type XI (COL11A2) assigned to the short arm of chromosome 6.</strong>
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Ann. Hum. Genet. 54: 23-29, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2321911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2321911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2321911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1990.tb00357.x" target="_blank">Full Text</a>]
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<a id="Lui1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lui, V. C. H., Ng, L. J., Sat, E. W. Y., Cheah, K. S. E.
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<strong>The human alpha-2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.</strong>
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Genomics 32: 401-412, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8838804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8838804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8838804" 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.1996.0135" target="_blank">Full Text</a>]
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</p>
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<a id="Maeda2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maeda, S., Koga, H., Matsunaga, S., Numasawa, T., Ikari, K., Furushima, K., Harata, S., Takeda, J., Sakou, T., Komiya, S., Inoue, I.
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<strong>Gender-specific haplotype association of collagen alpha-2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.</strong>
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J. Hum. Genet. 46: 1-4, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11289713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11289713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11289713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100380170117" target="_blank">Full Text</a>]
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</p>
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<a id="14" class="mim-anchor"></a>
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<a id="Mayne1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mayne, R., Brewton, R. G., Mayne, P. M., Baker, J. R.
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<strong>Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous.</strong>
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J. Biol. Chem. 268: 9381-9386, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486632" 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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<a id="15" class="mim-anchor"></a>
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<a id="McGuirt1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H.
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<strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong>
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Nature Genet. 23: 413-419, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/70516" target="_blank">Full Text</a>]
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Melkoniemi2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L.
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<strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong>
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Am. J. Hum. Genet. 66: 368-377, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10677296[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=10677296" 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/10.1086/302750" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Pihlajamaa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L.
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<strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong>
|
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Am. J. Med. Genet. 80: 115-120, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9805126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9805126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9805126" 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(19981102)80:2<115::aid-ajmg5>3.0.co;2-o" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Sirko-Osadsa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H.
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<strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong>
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J. Pediat. 132: 368-371, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506662" 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/s0022-3476(98)70466-4" target="_blank">Full Text</a>]
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</p>
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<a id="19" class="mim-anchor"></a>
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<a id="Spranger1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Spranger, J.
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<strong>The type XI collagenopathies.</strong>
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Pediat. Radiol. 28: 745-750, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s002470050459" target="_blank">Full Text</a>]
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</p>
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<a id="20" class="mim-anchor"></a>
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<a id="Stubbs1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stubbs, L., Lui, V. C. H., Ng, L. J., Cheah, K. S. E.
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<strong>The alpha-2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex.</strong>
|
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Mammalian Genome 4: 95-103, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8431643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00290433" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Temtamy2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 140A: 1189-1195, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16637051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16637051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16637051" 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.31205" target="_blank">Full Text</a>]
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<a id="Tompson2012" class="mim-anchor"></a>
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<div class="">
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Tompson, S. W., Faqeih, E. A., Ala-Kokko, L., Hecht, J. T., Miki, R., Funari, T., Funari, V. A., Nevarez, L., Krakow, D., Cohn, D. H.
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<strong>Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246659[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=22246659" 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.34406" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="van Steensel1997" class="mim-anchor"></a>
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<div class="">
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9188673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9188673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9188673" 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(19970613)70:3<315::aid-ajmg19>3.3.co;2-y" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Vikkula1995" class="mim-anchor"></a>
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<div class="">
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Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G.
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<strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7859284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7859284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7859284" 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/10.1016/0092-8674(95)90493-x" target="_blank">Full Text</a>]
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<a id="Vuoristo2004" class="mim-anchor"></a>
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<div class="">
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Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L.
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<strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong>
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Am. J. Med. Genet. 130A: 160-164, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15372529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15372529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15372529" 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.30111" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Vuoristo1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vuoristo, M. M., Pihlajamaa, T., Vandenberg, P., Prockop, D. J., Ala-Kokko, L.
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<strong>The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.</strong>
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J. Biol. Chem. 270: 22873-22881, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7559422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7559422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7559422" 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.270.39.22873" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Weissenbacher1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weissenbacher, G., Zweymuller, E.
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<strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong>
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Mschr. Kinderheilk. 112: 315-317, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14234962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14234962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14234962" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 07/18/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/18/2015<br>Marla J. F. O'Neill - updated : 3/8/2012<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Cassandra L. Kniffin - updated : 8/28/2006<br>Marla J. F. O'Neill - updated : 11/10/2005<br>Victor A. McKusick - updated : 8/17/2005<br>Victor A. McKusick - updated : 11/23/2004<br>Victor A. McKusick - updated : 1/29/2001<br>Victor A. McKusick - updated : 3/31/2000<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 2/15/1999<br>Victor A. McKusick - updated : 12/3/1998<br>Victor A. McKusick - updated : 5/1/1998<br>Alan F. Scott - updated : 4/12/1996
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/06/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/05/2024<br>carol : 07/19/2017<br>carol : 07/18/2017<br>carol : 05/17/2017<br>carol : 12/18/2015<br>carol : 3/9/2012<br>terry : 3/8/2012<br>terry : 3/8/2012<br>carol : 8/4/2011<br>carol : 8/4/2011<br>terry : 12/2/2008<br>wwang : 12/1/2006<br>wwang : 10/12/2006<br>terry : 10/11/2006<br>wwang : 9/5/2006<br>ckniffin : 8/28/2006<br>wwang : 11/10/2005<br>wwang : 8/24/2005<br>terry : 8/17/2005<br>tkritzer : 11/30/2004<br>terry : 11/23/2004<br>mcapotos : 2/6/2001<br>terry : 1/29/2001<br>carol : 12/21/2000<br>carol : 6/16/2000<br>mgross : 4/11/2000<br>terry : 3/31/2000<br>alopez : 11/30/1999<br>terry : 11/30/1999<br>terry : 11/30/1999<br>carol : 2/16/1999<br>terry : 2/15/1999<br>carol : 12/10/1998<br>terry : 12/7/1998<br>terry : 12/3/1998<br>terry : 6/1/1998<br>carol : 5/9/1998<br>terry : 5/1/1998<br>mark : 10/18/1996<br>mark : 4/12/1996<br>terry : 4/11/1996<br>mark : 4/10/1996<br>joanna : 4/4/1996<br>mark : 2/19/1996<br>terry : 2/16/1996<br>carol : 2/24/1995<br>terry : 11/16/1994<br>carol : 2/25/1993<br>supermim : 3/16/1992<br>carol : 6/11/1991<br>carol : 5/22/1991
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<h3>
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<span class="mim-font">
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<strong>*</strong> 120290
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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COLLAGEN, TYPE XI, ALPHA-2; COL11A2
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</span>
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</h3>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: COL11A2</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 6p21.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:33,162,694-33,193,519 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="5">
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<span class="mim-font">
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6p21.32
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<td>
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<span class="mim-font">
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Deafness, autosomal dominant 13
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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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601868
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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 class="mim-font">
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Deafness, autosomal recessive 53
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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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609706
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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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<td>
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<span class="mim-font">
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Fibrochondrogenesis 2
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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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614524
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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; 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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<td>
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<span class="mim-font">
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Otospondylomegaepiphyseal dysplasia, 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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184840
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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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Otospondylomegaepiphyseal dysplasia, 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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215150
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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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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Type XI collagen, a fibril-forming collagen found mainly in the cartilage extracellular matrix, is important for the integrity and development of the skeleton (summary by Lui et al., 1996). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kimura et al. (1989) cloned human COL11A2, which encodes a deduced protein with high sequence similarity to COL11A1 (120280). By Northern blot analysis, Kimura et al. (1989) showed that COL11A2 is expressed in cartilage but not in adult liver, skin, and tendon. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Law et al. (1989, 1990) used a cosmid clone containing the COL11A2 gene as a probe in the Southern blot analysis of DNA from a panel of human/hamster somatic cell hybrids containing different numbers and combinations of human chromosomes. They concluded that the gene is located on chromosome 6, and study of a cell hybrid containing only 6q indicated that the COL11A2 gene is on 6p. </p><p>By a combination of somatic cell hybrid mapping and in situ hybridization, Hanson et al. (1989, 1989) localized the COL11A2 gene to 6p21.3. By physical mapping of the class II HLA region using pulsed field gel electrophoresis, Hanson et al. (1991) demonstrated that the COL11A2 gene is about 45 kb centromeric to HLA-DPA1 (142880) and is transcribed in the opposite (i.e., telomeric) direction. </p><p>Kimura et al. (1989) assigned the COL11A2 gene to 6p21.2 by in situ hybridization. The nucleotide sequence showed that although type XI collagen belongs to the fibril-forming class of collagens, there are substantial differences in exon sizes at the 3-prime end of the gene when comparing the COL11A2 gene with the genes for types I, II, and III collagens. It is thought that the alpha-3 chain of type XI collagen is a posttranslational variant of the type II, or cartilage, collagen subunit, i.e., is encoded by the COL2A1 gene (120140). </p><p>Stubbs et al. (1993) showed that the homologous gene in the mouse is also 'embedded' within the major histocompatibility complex on chromosome 17. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Vuoristo et al. (1995) analyzed the COL11A2 gene from 2 overlapping cosmid clones that had previously been isolated in the course of searching the human major histocompatibility region. Nucleotide sequence defined over 28,000 bp of the gene. It was shown to contain 66 exons. As with most genes for fibrillar collagens, the first intron was among the largest, and the introns at the 5-prime end of the gene were in general larger than the introns at the 3-prime end. Analysis of the exons coding for the major triple helical domain indicated that the gene structure had not evolved with the genes for the major fibrillar collagen and that there were marked differences in the number of exons, the exon sizes, and codon usage. The gene was located close to the gene for the retinoid X receptor beta (180246) in a head-to-tail arrangement similar to that previously seen with the 2 mouse genes. Also, there was marked interspecies homology in the intergenic sequences. </p><p>Lui et al. (1996) showed that COL11A2 contains at least 62 exons spanning 30.5 kb. The gene differs from other collagens in that the amino propeptide is encoded by 14 exons rather than the usual 5 to 8. The promoter is GC-rich and lacks a TATA box. The authors believed that the gene is likely to undergo alternative splicing. The gene lies within the MHC region and is only 1.1-kb from the retinoid X receptor-beta (180246) and about 40 kb from DPB2 (142880). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Melkoniemi et al. (2000) stated that in spite of partial overlap between the Stickler (see 108300), Marshall (154780), Weissenbacher-Zweymuller (OSMEDA; 184840), and otospondylomegaepiphyseal dysplasia (OSMEDB; 215150) phenotypes caused by mutations in the COL2A1 (120140), COL11A1 (120280), and COL11A2 genes, absence of eye involvement in patients carrying COL11A2 mutations is noteworthy. This was best explained by the finding that the COL11A2 gene is not expressed in the vitreous body and that the COL5A2 (120190) chain replaces the COL11A2 chain in the ocular vitreous (Mayne et al., 1993). </p><p><strong><em>Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant</em></strong></p><p>
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Pihlajamaa et al. (1998) demonstrated that the original patient with Weissenbacher-Zweymuller syndrome (WZS) (Weissenbacher and Zweymuller, 1964) had a heterozygous mutation in the COL11A2 gene (120290.0004). They noted phenotypic overlap between WZS and a disorder called 'nonocular Stickler syndrome,' which was also found to be caused by heterozygous mutation in the COL11A2 gene. Pihlajamaa et al. (1998) and Spranger (1998) concluded that the disorders are identical and proposed the designation autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; 184840). </p><p>In affected members of the large Dutch family who had skeletal and otologic features of Stickler syndrome but no eye abnormalities, previously reported by Brunner et al. (1994), Vikkula et al. (1995) identified a heterozygous mutation in the COL11A2 gene (120290.0001). </p><p>In affected members of a family with a Stickler syndrome phenotype without eye involvement, Sirko-Osadsa et al. (1998) identified heterozygosity for a 27-bp deletion in the COL11A2 gene (120290.0003). The affected family members had sensorineural hearing loss, cleft palate/uvula, micrognathia, malar flattening, joint pains, and multiple hereditary exostoses. </p><p><strong><em>Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive</em></strong></p><p>
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Vikkula et al. (1995) studied a Dutch kindred in which 3 sibs of a consanguineous mating had a severe degenerative joint disease resembling osteoarthritis that presented in early adulthood and affected predominantly the hips, knees, elbows, and shoulders (OSMEDB; 215150). Vikkula et al. (1995) found that the mutation in these sibs was a homozygous gly175-to-arg mutation of the COL11A2 gene (120290.0002). van Steensel et al. (1997) described the clinical and radiographic features of otospondylomegaepiphyseal dysplasia in these sibs. </p><p>Melkoniemi et al. (2000) reported 7 families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, very flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. A different mutation of the COL11A2 gene was identified in each family. In 4 families, including 3 with consanguineous parents, the mutations were homozygous. Individuals in 3 other families, in which parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 were predicted to cause premature termination of translation, and 1 was predicted to cause an in-frame deletion. </p><p>In an Egyptian brother and sister with OSMED, Temtamy et al. (2006) identified homozygosity for a 1-bp deletion in the COL11A2 gene (120290.0011). The first-cousin parents were heterozygous for the deletion; a younger brother was unaffected. </p><p><strong><em>Deafness, Autosomal Dominant 13</em></strong></p><p>
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In 2 families, 1 American and 1 Dutch, with autosomal dominant, nonsyndromic hearing loss (DFNA13; 601868) previously been mapped to 6p, McGuirt et al. (1999) identified heterozygous mutations in the COL11A2 gene (120290.0005-120290.0006) that were predicted to affect the triple-helix domain of the collagen protein. McGuirt et al. (1999) found that mice with a targeted disruption of Col11a2 also showed hearing loss. Electron microscopy of the tectorial membrane of these mice revealed loss of organization of the collagen fibrils. The findings revealed a unique ultrastructural malformation of the inner ear architecture associated with nonsyndromic hearing loss, and suggested that tectorial membrane abnormalities may be one etiology of sensorineural hearing loss primarily affecting the mid-frequencies. </p><p><strong><em>Deafness, Autosomal Recessive 53</em></strong></p><p>
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In 5 affected members of 2 sibships of a consanguineous Iranian family (family L622) with nonsyndromic hearing loss (DFNB53; 609706), Chen et al. (2005) identified homozygosity for a missense mutation in the COL11A2 gene (P621T; 120290.0010). The mutation segregated with deafness in both sibships. </p><p>In affected members of a Tunisian family and a Turkish family with nonsyndromic hearing loss, Chakchouk et al. (2015) identified homozygosity for 2 different missense mutations in the COL11A2 gene (120290.0014; 120290.0015) that segregated with disease in the respective families. </p><p><strong><em>Fibrochondrogenesis 2</em></strong></p><p>
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In a deceased infant with fibrochondrogenesis (FBCG2; 614524), born of consanguineous parents, Tompson et al. (2012) identified homozygosity for a splice site mutation in the COL11A2 gene (120290.0012). In another deceased infant with fibrochondrogenesis, who was born of healthy nonconsanguineous parents, they identified heterozygosity for a 9-bp deletion (120290.0013). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Among Japanese, ossification of the posterior longitudinal ligament of the spine (OPLL; 602475) is a leading cause of myelopathy, showing ectopic bone formation in the paravertebral ligament. Maeda et al. (2001) provided genetic evidence that the COL11A2 locus constitutes susceptibility for OPLL. Five distinct SNPs identified in COL11A2 were combined to construct haplotypes. A male-specific association with a COL11A2 haplotype was found with OPLL. In a case-control study of 711 Japanese individuals with OPLL and 896 controls, Horikoshi et al. (2006) found no association between 2 SNPs in the COL11A2 gene and OPLL. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>15 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</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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COL11A2, IVSDS, G-A, +1
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<br />
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SNP: rs750995470,
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gnomAD: rs750995470,
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ClinVar: RCV000018657, RCV001659702
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large Dutch kindred with a phenotype resembling Stickler syndrome but without eye abnormalities (OSMEDA; 184840), which was found by Brunner et al. (1994) to map to the same region of 6p as the COL11A2 gene, Vikkula et al. (1995) found heterozygosity for a 1-bp change at the exon-intron boundary such that the intronic donor-site sequence, GTGAG, was replaced by ATGAG. This change created a novel NlaIII restriction site in the genomic sequence. The G-to-A transition resulted in a 54-bp in-frame deletion, which represented deletion of the exon 5-prime of the mutation. This exon sequence was located 108 nucleotides upstream of the junction between sequences encoding the triple-helical and C-propeptide domains of the alpha-2(XI) chain. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</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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COL11A2, GLY175ARG
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<br />
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SNP: rs121912945,
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gnomAD: rs121912945,
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ClinVar: RCV000018658, RCV001851920
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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>Vikkula et al. (1995) studied a Dutch kindred in which 3 sibs had a severe degenerative joint disease resembling osteoarthritis that presented in early adulthood and affected predominantly the hips, knees, elbows, and shoulders (OSMEDB; 215150). The spine was less severely affected, and adult height was only slightly below that of the unaffected sibs. There was increased lumbar lordosis and prominent interphalangeal joints. Short fifth metacarpals were found in all 3 sibs. The patients had distinctive facial features with midface hypoplasia with a short upturned nose, prominent eyes, depressed nasal bridge, and prominent supraorbital ridges. Sensorineural hearing loss was present from birth and required the use of hearing aids in all 3 affected sibs. None of the 3 had myopia or vitreoretinal degeneration. The parents were fourth cousins. The affected sibs were found to be homozygous for an extended haplotype of 7 CA dinucleotide repeat polymorphisms from 6p21 near the COL11A2 locus. Using conservative estimates of 0.002 for the frequency of the abnormal allele and 0.005 for the frequency of the marker haplotype, Vikkula et al. (1995) obtained a lod score of 3.09 at theta = 0.0 for linkage of the disease phenotype to 6p21. To find the mutation causing the autosomal recessive disorder, they used RT-PCR with total RNA extracted from EBV-transformed lymphoblasts, and the complete coding sequence of the COL11A2 gene was determined for 1 individual. This identified a G-to-A transition, converting a glycyl to an arginyl codon, within the triple-helical domain of the alpha-2(XI) chain. The change in sequence eliminated an MspI restriction site. Affected children were homozygous for the arginyl codon, while unaffected children were homozygous for the glycyl codon; both parents were heterozygous for the sequence change. The mutation occurred in a Gly-X-Y triplet. The clinical findings in the 3 sibs with the gly175-to-arg missense mutation were described by van Steensel et al. (1997). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</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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COL11A2, 27-BP DEL
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<br />
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SNP: rs864309477,
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ClinVar: RCV000018659
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with a syndrome resembling Stickler syndrome but without eye anomalies (OSMEDA; 184840), Sirko-Osadsa et al. (1998) identified a heterozygous 27-bp deletion within exon 39 of the COL11A2 gene. </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 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</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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COL11A2, GLY955GLU
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<br />
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SNP: rs121912946,
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ClinVar: RCV000018660
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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 the original patient with Weissenbacher-Zweymuller syndrome (WZS; Weissenbacher and Zweymuller, 1964), now designated autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA; 184840), Pihlajamaa et al. (1998) identified heterozygosity for G-to-A transition in the COL11A2 gene that converted codon 955 from an obligate glycine (GGG) in the major triple helix of the protein to a codon for glutamate (GAG). </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>.0005 DEAFNESS, AUTOSOMAL DOMINANT 13</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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COL11A2, ARG549CYS
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<br />
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SNP: rs121912947,
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ClinVar: RCV000018662, RCV000605765, RCV001091818, RCV003398542
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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 affected members of an American family with autosomal dominant nonsyndromic sensorineural hearing loss (DFNA13; 601868), McGuirt et al. (1999) identified a heterozygous C-to-T missense mutation in exon 42 that predicted an arg549-to-cys amino acid substitution. </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>.0006 DEAFNESS, AUTOSOMAL DOMINANT 13</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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COL11A2, GLY323GLU
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<br />
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SNP: rs121912948,
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ClinVar: RCV000018663
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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 affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness (DFNA13; 601868), McGuirt et al. (1999) found a heterozygous G-to-A transition in exon 31 that predicted a gly323-to-glu amino acid substitution. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</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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COL11A2, SER345TER
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<br />
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SNP: rs121912949,
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gnomAD: rs121912949,
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ClinVar: RCV000018664
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a family from Morocco with consanguineous parents, Melkoniemi et al. (2000) found that 3 children with otospondylomegaepiphyseal dysplasia (OSMEDB; 215150) were homozygous for a C-to-A transversion at nucleotide 2492 in exon 33 of the COL11A2 gene, resulting in a ser345-to-ter substitution. One of the children was described as having normal body length at birth, but short limbs with enlarged joints and stiff interphalangeal joints were noted. The radiologic features included vertebral coronal clefts, square iliac wings and a thick ischium, large metaphyses of the long bones, and enlarged epiphyses of the elbows and knees. At age 7 years, she was of nearly normal height, but disproportionate, and her palate was extremely narrow, with a double row of teeth. Eye examination revealed slight myopia. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
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COL11A2, ARG893TER
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<br />
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|
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SNP: rs121912950,
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|
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ClinVar: RCV000018665, RCV000761299, RCV001268065, RCV004748528
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 3-generation family with a disorder resembling Stickler syndrome but without eye anomalies (OSMEDA; 184840), Vuoristo et al. (2004) identified a heterozygous C-to-T transition in exon 57 of the COL11A2 gene, resulting in an arg893-to-ter (R893X) substitution. The mutation induced skipping of exon 57 in 1 allele, resulting in an in-frame deletion of 18 amino acids. Sensorineural hearing loss was present in all 3 generations. The propositus was a 4-year-old boy who had Robin sequence at birth. Both the propositus and his father had a flat malar area and nasal bridge, and the nose was upturned. The father had symptoms and radiologic findings of osteoarthritis from the age of 29 years. At age 73 years, the affected grandmother showed extensive osteoarthritic changes in the spine. Her father had undergone hip replacement in mid-adulthood. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</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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COL11A2, ARG845TER
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<br />
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SNP: rs121912951,
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gnomAD: rs121912951,
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ClinVar: RCV000018666, RCV002496405, RCV002513107
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In male twins with otospondylomegaepiphyseal dysplasia (OSMEDB; 215150), who were born to nonconsanguineous parents of northern European descent, Melkoniemi et al. (2000) identified compound heterozygous mutations in the COL11A2 gene: a 3991C-T transition, resulting in an arg845-to-ter (R845X) substitution, inherited from the father, and a splice site mutation (IVS53+5G-A) inherited from the mother. </p><p>In 5 individuals from a consanguineous Israeli Bedouin family with OSMED, who had a clinical diagnosis of autosomal recessive Weissenbacher-Zweymuller syndrome, Harel et al. (2005) identified homozygosity for the R845X mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0010 DEAFNESS, AUTOSOMAL RECESSIVE 53</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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COL11A2, PRO621THR
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<br />
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SNP: rs121912952,
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gnomAD: rs121912952,
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ClinVar: RCV000018667, RCV000217775, RCV000584845, RCV001375391, RCV004791228, RCV005042063
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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 5 affected members of 2 sibships of a consanguineous Iranian family (family L622) with nonsyndromic hearing loss (DFNB53; 609706), Chen et al. (2005) identified homozygosity for an 1861C-A transversion in exon 21 of the COL11A2 gene, resulting in a pro621-to-thr (P621T) substitution near the N terminus of the triple helical region. The mutation segregated with hearing loss in the family. </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>.0011 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE</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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COL11A2, 1-BP DEL, 3962G
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<br />
|
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SNP: rs1562315748,
|
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ClinVar: RCV000018668
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In an Egyptian brother and sister with otospondylomegaepiphyseal dysplasia B (OSMEDB; 215150), Temtamy et al. (2006) identified homozygosity for a 1-bp deletion (3962delG) in exon 55 of the COL11A2 gene, resulting in a termination codon in exon 56. The first-cousin parents were heterozygous for the deletion; a younger brother was unaffected. </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>.0012 FIBROCHONDROGENESIS 2</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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COL11A2, IVS18, 1-BP INS, +3
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<br />
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SNP: rs2150577320,
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ClinVar: RCV000022498
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a deceased infant with fibrochondrogenesis-2 (FBCG2; 614524), born of consanguineous parents, Tompson et al. (2012) identified homozygosity for a 1-bp insertion in intron 18 (+3insG) of the COL11A2 gene, predicted to result in aberrant mRNA processing. The unaffected parents were heterozygous for the mutation, as was an unaffected sib. An exon trapping splicing assay in COS-7 cells demonstrated skipping of exon 18 in RNA from the mutant construct but not from the control. </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>.0013 FIBROCHONDROGENESIS 2</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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COL11A2, 9-BP DEL, NT2899
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<br />
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SNP: rs2150551158,
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ClinVar: RCV000022499
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a deceased infant with fibrochondrogenesis-2 (FBCG2; 614524), born of healthy nonconsanguineous parents, Tompson et al. (2012) identified heterozygosity for a de novo 9-bp deletion (2899_2907del9), predicted to delete 3 amino acids within the triple helical domain. The mutation was not present in the unaffected parents. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 DEAFNESS, AUTOSOMAL RECESSIVE 53</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
COL11A2, ALA37SER
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<br />
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|
|
SNP: rs606231410,
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|
|
gnomAD: rs606231410,
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|
|
|
ClinVar: RCV000148342, RCV000202598, RCV003556192
|
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|
|
|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 4 affected members of a large consanguineous Tunisian family (family FT3) with prelingual profound sensorineural hearing loss (DFNB53; 609706), Chakchouk et al. (2015) identified homozygosity for a c.109G-T transversion (c.109G-T, NM_080680.2) in the COL11A2 gene, resulting in an ala37-to-ser (A37S) substitution at a highly conserved residue within the alpha-2 helix in the NC4 domain. The mutation segregated fully with disease in the family and was not found in 113 Tunisian controls or in the Exome Variant Server or dbSNP databases. Family members who were heterozygous carriers of A37S exhibited apparently progressive sensorineural hearing loss after age 30 years. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 DEAFNESS, AUTOSOMAL RECESSIVE 53</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL11A2, PRO888THR
|
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<br />
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|
|
SNP: rs864309523,
|
|
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|
|
|
|
|
ClinVar: RCV000202578
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish sisters (family 262) with prelingual profound sensorineural hearing loss (DFNB53; 609706), Chakchouk et al. (2015) identified homozygosity for a c.2662C-A transversion (c.2662C-A, NM_080680.2) in the COL11A2 gene, resulting in a pro888-to-thr (P888T) substitution at a highly conserved residue in the triple helical region. The mutation was present in heterozygosity in their unaffected consanguineous parents and their unaffected sister, but was not found in 178 Turkish controls or in the Exome Variant Server or dbSNP databases. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brunner, H. G., van Beersum, S. E. C., Warman, M. L., Olsen, B. R., Ropers, H.-H., Mariman, E. C. M.
|
|
<strong>A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.</strong>
|
|
Hum. Molec. Genet. 3: 1561-1564, 1994.
|
|
|
|
|
|
[PubMed: 7833911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.9.1561]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., II, Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S., Liu, X. Z.
|
|
<strong>Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.</strong>
|
|
Molec. Genet. Genomics 290: 1327-1334, 2015.
|
|
|
|
|
|
[PubMed: 25633957]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00438-015-0995-9]
|
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, W., Kahrizi, K., Meyer, N. C., Riazalhosseini, Y., Van Camp, G., Najmabadi, H., Smith, R. J. H.
|
|
<strong>Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.</strong>
|
|
J. Med. Genet. 42: e61, 2005. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 16033917]
|
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|
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[Full Text: https://doi.org/10.1136/jmg.2005.032615]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hanson, I. M., Cheah, K. S. E., Gorman, P. A., Solomon, E., Trowsdale, J.
|
|
<strong>The pro-alpha2(XI) collagen gene, COL11A2, maps to the centromeric border of the major histocompatibility complex. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1010-1011, 1989.
|
|
|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hanson, I. M., Gorman, P., Lui, V. C. H., Cheah, K. S. E., Solomon, E., Trowsdale, J.
|
|
<strong>The human alpha-2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.</strong>
|
|
Genomics 5: 925-931, 1989.
|
|
|
|
|
|
[PubMed: 2591970]
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|
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|
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[Full Text: https://doi.org/10.1016/0888-7543(89)90135-3]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hanson, I. M., Poustka, A., Trowsdale, J.
|
|
<strong>New genes in the class II region of the human major histocompatibility complex.</strong>
|
|
Genomics 10: 417-424, 1991.
|
|
|
|
|
|
[PubMed: 1906426]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90327-b]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harel, T., Rabinowitz, R., Hendler, N., Galil, A., Flusser, H., Chemke, J., Gradstein, L., Lifshitz, T., Ofir, R., Elbedour, K., Birk, O. S.
|
|
<strong>COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).</strong>
|
|
Am. J. Med. Genet. 132A: 33-35, 2005.
|
|
|
|
|
|
[PubMed: 15558753]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30371]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Horikoshi, T., Maeda, K., Kawaguchi, Y., Chiba, K., Mori, K., Koshizuka, Y., Hirabayashi, S., Sugimori, K., Matsumoto, M., Kawaguchi, H., Takahashi, M., Inoue, H., Kimura, T., Matsusue, Y., Inoue, I., Baba, H., Nakamura, K., Ikegawa, S.
|
|
<strong>A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.</strong>
|
|
Hum. Genet. 119: 611-616, 2006.
|
|
|
|
|
|
[PubMed: 16609882]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-006-0170-9]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M.-G., van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., Olsen, B. R.
|
|
<strong>The human alpha-2(XI) collagen (COL11A2) chain: molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.</strong>
|
|
J. Biol. Chem. 264: 13910-13916, 1989.
|
|
|
|
|
|
[PubMed: 2760050]
|
|
|
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|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Law, M. L., Chan, S. D. H., Berger, R., Jones, C. A., Kao, F. T., Solomon, E., Cheah, K. S. E.
|
|
<strong>The gene for the alpha2 chain of the human fibrillar collagen, type XI (COL11A2) is on the short arm of chromosome 6. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1029-1030, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, M. L., Chan, S. D. H., Berger, R., Jones, C., Kao, F. T., Solomon, E., Cheah, K. S. E.
|
|
<strong>The gene for the alpha-2 chain of the human fibrillar collagen type XI (COL11A2) assigned to the short arm of chromosome 6.</strong>
|
|
Ann. Hum. Genet. 54: 23-29, 1990.
|
|
|
|
|
|
[PubMed: 2321911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1990.tb00357.x]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Lui, V. C. H., Ng, L. J., Sat, E. W. Y., Cheah, K. S. E.
|
|
<strong>The human alpha-2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.</strong>
|
|
Genomics 32: 401-412, 1996.
|
|
|
|
|
|
[PubMed: 8838804]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1996.0135]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maeda, S., Koga, H., Matsunaga, S., Numasawa, T., Ikari, K., Furushima, K., Harata, S., Takeda, J., Sakou, T., Komiya, S., Inoue, I.
|
|
<strong>Gender-specific haplotype association of collagen alpha-2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.</strong>
|
|
J. Hum. Genet. 46: 1-4, 2001.
|
|
|
|
|
|
[PubMed: 11289713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100380170117]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mayne, R., Brewton, R. G., Mayne, P. M., Baker, J. R.
|
|
<strong>Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous.</strong>
|
|
J. Biol. Chem. 268: 9381-9386, 1993.
|
|
|
|
|
|
[PubMed: 8486632]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGuirt, W. T., Prasad, S. D., Griffith, A. J., Kunst, H. P. M., Green, G. E., Shpargel, K. B., Runge, C., Huybrechts, C., Mueller, R. F., Lynch, E., King, M.-C., Brunner, H. G., Cremers, C. W. R. J., Takanosu, M., Li, S.-W., Arita, M., Mayne, R., Prockop, D. J., Van Camp, G., Smith, R. J. H.
|
|
<strong>Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).</strong>
|
|
Nature Genet. 23: 413-419, 1999.
|
|
|
|
|
|
[PubMed: 10581026]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/70516]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Melkoniemi, M., Brunner, H. G., Manouvrier, S., Hennekam, R., Superti-Furga, A., Kaariainen, H., Pauli, R. M., van Essen, T., Warman, M. L., Bonaventure, J., Miny, P., Ala-Kokko, L.
|
|
<strong>Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.</strong>
|
|
Am. J. Hum. Genet. 66: 368-377, 2000.
|
|
|
|
|
|
[PubMed: 10677296]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302750]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pihlajamaa, T., Prockop, D. J., Faber, J., Winterpacht, A., Zabel, B., Giedion, A., Wiesbauer, P., Spranger, J., Ala-Kokko, L.
|
|
<strong>Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).</strong>
|
|
Am. J. Med. Genet. 80: 115-120, 1998.
|
|
|
|
|
|
[PubMed: 9805126]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o]
|
|
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|
|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Sirko-Osadsa, D. A., Murray, M. A., Scott, J. A., Lavery, M. A., Warman, M. L., Robin, N. H.
|
|
<strong>Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.</strong>
|
|
J. Pediat. 132: 368-371, 1998.
|
|
|
|
|
|
[PubMed: 9506662]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(98)70466-4]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spranger, J.
|
|
<strong>The type XI collagenopathies.</strong>
|
|
Pediat. Radiol. 28: 745-750, 1998.
|
|
|
|
|
|
[PubMed: 9799295]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s002470050459]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Stubbs, L., Lui, V. C. H., Ng, L. J., Cheah, K. S. E.
|
|
<strong>The alpha-2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex.</strong>
|
|
Mammalian Genome 4: 95-103, 1993.
|
|
|
|
|
|
[PubMed: 8431643]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00290433]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
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Temtamy, S. A., Mannikko, M., Abdel-Salam, G. M. H., Hassan, N. A., Ala-Kokko, L., Afifi, H. H.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 140A: 1189-1195, 2006.
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[PubMed: 16637051]
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[Full Text: https://doi.org/10.1002/ajmg.a.31205]
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Tompson, S. W., Faqeih, E. A., Ala-Kokko, L., Hecht, J. T., Miki, R., Funari, T., Funari, V. A., Nevarez, L., Krakow, D., Cohn, D. H.
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<strong>Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.</strong>
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Am. J. Med. Genet. 158A: 309-314, 2012.
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[PubMed: 22246659]
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[Full Text: https://doi.org/10.1002/ajmg.a.34406]
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van Steensel, M. A. M., Buma, P., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Brunner, H. G.
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<strong>Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.</strong>
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Am. J. Med. Genet. 70: 315-323, 1997.
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[PubMed: 9188673]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y]
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Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogen, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., Brunner, H. G.
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<strong>Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.</strong>
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Cell 80: 431-437, 1995.
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[PubMed: 7859284]
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[Full Text: https://doi.org/10.1016/0092-8674(95)90493-x]
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Vuoristo, M. M., Pappas, J. G., Jansen, V., Ala-Kokko, L.
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<strong>A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.</strong>
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Am. J. Med. Genet. 130A: 160-164, 2004.
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[PubMed: 15372529]
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[Full Text: https://doi.org/10.1002/ajmg.a.30111]
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Vuoristo, M. M., Pihlajamaa, T., Vandenberg, P., Prockop, D. J., Ala-Kokko, L.
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<strong>The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.</strong>
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J. Biol. Chem. 270: 22873-22881, 1995.
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[PubMed: 7559422]
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[Full Text: https://doi.org/10.1074/jbc.270.39.22873]
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Weissenbacher, G., Zweymuller, E.
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<strong>Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.</strong>
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Mschr. Kinderheilk. 112: 315-317, 1964.
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[PubMed: 14234962]
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Carol A. Bocchini - updated : 07/18/2017<br>Marla J. F. O'Neill - updated : 12/18/2015<br>Marla J. F. O'Neill - updated : 3/8/2012<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Cassandra L. Kniffin - updated : 8/28/2006<br>Marla J. F. O'Neill - updated : 11/10/2005<br>Victor A. McKusick - updated : 8/17/2005<br>Victor A. McKusick - updated : 11/23/2004<br>Victor A. McKusick - updated : 1/29/2001<br>Victor A. McKusick - updated : 3/31/2000<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 2/15/1999<br>Victor A. McKusick - updated : 12/3/1998<br>Victor A. McKusick - updated : 5/1/1998<br>Alan F. Scott - updated : 4/12/1996
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Victor A. McKusick : 9/29/1987
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