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Entry
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- *120140 - COLLAGEN, TYPE II, ALPHA-1; COL2A1
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- OMIM
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</form>
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<div id="mimAlertBanner">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*120140</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/120140">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000139219;t=ENST00000380518" 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=1280" 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=120140" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000139219;t=ENST00000380518" 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_001844,NM_033150,XM_017018828,XM_017018829,XM_017018830,XM_017018831,XM_047428315" 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_001844" 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=120140" 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=00361&isoform_id=00361_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/COL2A1" 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/29516,30041,30097,180396,180809,180811,180884,450394,529398,553236,553237,557054,575947,575948,673390,825645,929621,929622,930050,1335018,1335019,1335020,1335021,1335022,1335023,1335024,3980113,4261939,4378975,12545391,13938253,30583249,57997203,60496333,95132445,111118974,111118976,119578370,119578371,119578372,119578373,119578374,124056489,583075126,583765364,1034578030,1034578032,1034578034,1034578036,2217287514,2462530061,2462530063,2462530065,2462530067,2462530069" 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/P02458" 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=1280" 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=ENSG00000139219;t=ENST00000380518" 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=COL2A1" 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=COL2A1" 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+1280" 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/COL2A1" 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:1280" 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/1280" 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=chr12&hgg_gene=ENST00000552958.5&hgg_start=47972967&hgg_end=48006212&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2200" 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/col2a1" 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=120140[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=120140[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/COL2A1/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/ENSG00000139219" 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=COL2A1" 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=COL2A1" 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=COL2A1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=COL2A1" 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=COL2A1&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/PA26715" 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:2200" 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:88452" 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/COL2A1#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:88452" 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/1280/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/OMIA001926/" 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=1280" 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-050302-9" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:120140" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1280" 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=COL2A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1010668008, 111255008, 205483007, 254061001, 254064009, 278713008, 53974002, 702339001, 702350003, 720826006, 773727009, 78675000<br />
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<strong>ICD10CM:</strong> M91.1, Q77.0, Q77.7<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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120140
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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 II, ALPHA-1; COL2A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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COLLAGEN, TYPE II<br />
|
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COLLAGEN OF CARTILAGE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
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CHONDROCALCIN, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=COL2A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL2A1</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/12/325?start=-3&limit=10&highlight=325">12q13.11</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:47972967-48006212&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'})">12:47,972,967-48,006,212</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>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=132450,619248,200610,608805,609162,156550,150600,604864,151210,183900,184250,616583,184253,271700,108300,609508" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="16">
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<span class="mim-font">
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<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
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12q13.11
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Epiphyseal dysplasia, multiple, with myopia and deafness
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/132450"> 132450 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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?Vitreoretinopathy with phalangeal epiphyseal dysplasia
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619248"> 619248 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Achondrogenesis, type II or hypochondrogenesis
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/200610"> 200610 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Avascular necrosis of the femoral head
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</span>
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/608805"> 608805 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Czech dysplasia
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609162"> 609162 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<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">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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Kniest dysplasia
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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">
|
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|
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<a href="/entry/156550"> 156550 </a>
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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">
|
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|
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<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">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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|
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</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Legg-Calve-Perthes disease
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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">
|
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|
|
<a href="/entry/150600"> 150600 </a>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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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|
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</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Osteoarthritis with mild chondrodysplasia
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/entry/604864"> 604864 </a>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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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|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Platyspondylic skeletal dysplasia, Torrance type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/151210"> 151210 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
SED congenita
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/183900"> 183900 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</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>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMED Strudwick type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/184250"> 184250 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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|
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</span>
|
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</td>
|
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</tr>
|
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|
|
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondyloepiphyseal dysplasia, Stanescu type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616583"> 616583 </a>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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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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|
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</span>
|
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</td>
|
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</tr>
|
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|
|
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondylometaphyseal dysplasia, Algerian type
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
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|
|
<a href="/entry/184253"> 184253 </a>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
|
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|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondyloperipheral dysplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/271700"> 271700 </a>
|
|
|
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</span>
|
|
</td>
|
|
<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">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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|
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</span>
|
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</td>
|
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</tr>
|
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|
|
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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
Stickler syndrome, type I
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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">
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|
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<a href="/entry/108300"> 108300 </a>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<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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|
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</span>
|
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</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Stickler syndrome, type I, nonsyndromic ocular
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/609508"> 609508 </a>
|
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|
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</span>
|
|
</td>
|
|
<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>
|
|
<td>
|
|
<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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|
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</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/120140" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120140" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
|
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|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
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|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
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|
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|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
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<p>Collagens are major structural components of the extracellular matrix. Type II collagen, also called cartilage collagen, is the major collagen synthesized by chondrocytes. The same type of collagen occurs in the vitreous. Type II collagen is composed of 3 alpha-1(II) chains. These are synthesized as larger procollagen chains, which contain N- and C-terminal amino acid sequences called propeptides. After secretion into the extracellular matrix, the propeptides are cleaved, forming the mature type II collagen molecule (summary by <a href="#92" class="mim-tip-reference" title="Strom, C. M., Upholt, W. B. <strong>Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.</strong> Nucleic Acids Res. 12: 1025-1038, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6320112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6320112</a>] [<a href="https://doi.org/10.1093/nar/12.2.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6320112">Strom and Upholt, 1984</a> and <a href="#18" class="mim-tip-reference" title="Cheah, K. S. E., Stoker, N. G., Griffin, J. R., Grosveld, F. G., Solomon, E. <strong>Identification and characterization of the human type II collagen gene (COL2A1).</strong> Proc. Nat. Acad. Sci. 82: 2555-2559, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3857598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3857598</a>] [<a href="https://doi.org/10.1073/pnas.82.9.2555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3857598">Cheah et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6320112+3857598" 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="#92" class="mim-tip-reference" title="Strom, C. M., Upholt, W. B. <strong>Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.</strong> Nucleic Acids Res. 12: 1025-1038, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6320112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6320112</a>] [<a href="https://doi.org/10.1093/nar/12.2.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6320112">Strom and Upholt (1984)</a> isolated overlapping genomic DNA clones containing most of the coding sequences for chicken type II procollagen. They found that the chicken type II gene is 2 to 3 times more compact than the chicken type I alpha-2 gene (COL1A2; <a href="/entry/120160">120160</a>) due to smaller introns. The coding sequence shows about 75% homology with type I alpha-1 (COL1A1; <a href="/entry/120150">120150</a>) and 63 to 67% homology with type I alpha-2 and type III (COL3A1; <a href="/entry/120180">120180</a>) sequences. Base composition and codon usage of type II are very similar to alpha-1(I) and different from alpha-2(I) and type III. The chicken type II gene appears to be present in single copy per haploid genome. Using probes corresponding to the chicken COL2A1 procollagen gene to screen a recombinant human DNA library, <a href="#92" class="mim-tip-reference" title="Strom, C. M., Upholt, W. B. <strong>Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.</strong> Nucleic Acids Res. 12: 1025-1038, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6320112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6320112</a>] [<a href="https://doi.org/10.1093/nar/12.2.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6320112">Strom and Upholt (1984)</a> isolated a portion of the human COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6320112" 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="#80" class="mim-tip-reference" title="Sangiorgi, F., Huerre-Jeanpierre, C., Weil, D., Grzeschik, K. H., Junien, C., Sobel, M., Ramirez, F. <strong>Chromosomal assignment of the human type II collagen gene. (Abstract)</strong> Am. J. Hum. Genet. 36: 208S only, 1984."None>Sangiorgi et al. (1984)</a> isolated from a cartilage cDNA library a bovine clone encoding the pro-alpha-1(II) collagen chain. Because of the close homology of bovine and human collagens, the bovine clone could be used to isolate the corresponding gene from a human genomic library.</p><p>By comparison of amino acid sequences, <a href="#107" class="mim-tip-reference" title="van der Rest, M., Rosenberg, L. C., Olsen, B. R., Poole, A. R. <strong>Chondrocalcin is identical with the C-propeptide of type II procollagen.</strong> Biochem. J. 237: 923-925, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3800925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3800925</a>] [<a href="https://doi.org/10.1042/bj2370923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3800925">van der Rest et al. (1986)</a> showed that chondrocalcin is the C-propeptide of type II procollagen. Chondrocalcin is a calcium-binding protein found in developing fetal cartilage matrix and in growth plate cartilage when and where mineralization occurs in the lower hypertrophic zone. It appears to play a role in enchondral ossification. The new evidence on its identity to C-propeptide indicates that it is also important in assembly of the triple helix of type II collagen. See <a href="/entry/156550">156550</a> for evidence of abnormal processing of the C-propeptide of type II collagen resulting in imperfect fibril assembly and the clinical disorder called Kniest dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3800925" 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>Studying the gerbil, <a href="#84" class="mim-tip-reference" title="Slepecky, N. B., Savage, J. E., Yoo, T. J. <strong>Localization of type II, IX and V collagen in the inner ear.</strong> Acta Otolaryng. 112: 611-617, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1442006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1442006</a>] [<a href="https://doi.org/10.3109/00016489209137449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1442006">Slepecky et al. (1992)</a> demonstrated that types II and IX (<a href="/entry/120210">120210</a>) collagen show colocalization in the inner ear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1442006" 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="#124" class="mim-tip-reference" title="Wu, J.-J., Eyre, D. R. <strong>Structural analysis of cross-linking domains in cartilage type XI collagen: insights on polymeric assembly.</strong> J. Biol. Chem. 270: 18865-18870, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7642541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7642541</a>] [<a href="https://doi.org/10.1074/jbc.270.32.18865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7642541">Wu and Eyre (1995)</a> provided evidence that what was formerly termed the alpha-3 chain of type XI collagen (COL11A3) is actually transcribed from the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7642541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of DNA from human-mouse cell hybrids, <a href="#80" class="mim-tip-reference" title="Sangiorgi, F., Huerre-Jeanpierre, C., Weil, D., Grzeschik, K. H., Junien, C., Sobel, M., Ramirez, F. <strong>Chromosomal assignment of the human type II collagen gene. (Abstract)</strong> Am. J. Hum. Genet. 36: 208S only, 1984."None>Sangiorgi et al. (1984)</a> localized the COL2A1 gene to chromosome 12. The results were confirmed by similar experiments with the bovine cDNA probe. Using a cloned gene as a probe on Southern blots of DNA from a panel of interspecies somatic cell hybrids, <a href="#87" class="mim-tip-reference" title="Solomon, E., Hiorns, L. R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B. L. M., Dalgleish, R. <strong>Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family.</strong> Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2987919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2987919</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2987919">Solomon et al. (1985)</a> also assigned the COL2A1 locus to chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2987919" 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 somatic cell hybrid studies and in situ hybridization, <a href="#41" class="mim-tip-reference" title="Huerre-Jeanpierre, C., Mattei, M.-G., Weil, D., Grzeschik, K. H., Chu, M.-L., Sangiorgi, F. O., Sobel, M. E., Ramirez, F., Junien, C. <strong>Further evidence for the dispersion of the human fibrillar collagen genes.</strong> Am. J. Hum. Genet. 38: 26-37, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004202</a>]" pmid="3004202">Huerre-Jeanpierre et al. (1986)</a> assigned COL2A1 to 12q13.1-q13.2 and COL3A1 to 2q31-q32.3. <a href="#53" class="mim-tip-reference" title="Law, M. L., Tung, L., Morse, H. G., Berger, R., Jones, C., Cheah, K. S. E., Solomon, E. <strong>The human type II collagen gene (COL2A1) assigned to 12q14.3.</strong> Ann. Hum. Genet. 50: 131-137, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3435042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3435042</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1986.tb01031.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3435042">Law et al. (1986)</a> used a cosmid clone of the entire COL2A1 gene in Southern analysis of DNA from somatic cell hybrids containing segments of chromosome 12. Two hybrids contained a similar terminal deletion of 12q14.3-qter but 1 was positive for the gene and 1 negative. This led <a href="#53" class="mim-tip-reference" title="Law, M. L., Tung, L., Morse, H. G., Berger, R., Jones, C., Cheah, K. S. E., Solomon, E. <strong>The human type II collagen gene (COL2A1) assigned to 12q14.3.</strong> Ann. Hum. Genet. 50: 131-137, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3435042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3435042</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1986.tb01031.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3435042">Law et al. (1986)</a> to conclude that the gene is located in 12q14.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3435042+3004202" 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="#98" class="mim-tip-reference" title="Takahashi, E., Hori, T., O'Connell, P., Leppert, M., White, R. <strong>R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1).</strong> Hum. Genet. 86: 14-16, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2253935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2253935</a>] [<a href="https://doi.org/10.1007/BF00205165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2253935">Takahashi et al. (1990)</a> described a 'new' nonisotopic method of in situ hybridization. It involved replication of R-bands by incorporation of bromodeoxyuridine (BrdU) into cells synchronized with thymidine. Fluorescent signals could be detected on R-banded prometaphases stained with propidium iodide. They illustrated the strength of the system by refining the localization of the COL2A1 gene to 12q13.11-q13.12. By nonisotopic in situ hybridization, <a href="#98" class="mim-tip-reference" title="Takahashi, E., Hori, T., O'Connell, P., Leppert, M., White, R. <strong>R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1).</strong> Hum. Genet. 86: 14-16, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2253935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2253935</a>] [<a href="https://doi.org/10.1007/BF00205165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2253935">Takahashi et al. (1990)</a> showed that the COL2A1 gene is immediately proximal to the fragile site fra(12)(q13.1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2253935" 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="#59" class="mim-tip-reference" title="Lovell-Badge, R. H., Bygrave, A., Bradley, A., Robertson, E., Tilly, R., Cheah, K. S. E. <strong>Tissue-specific expression of the human type II collagen gene in mice.</strong> Proc. Nat. Acad. Sci. 84: 2803-2807, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3033664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3033664</a>] [<a href="https://doi.org/10.1073/pnas.84.9.2803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3033664">Lovell-Badge et al. (1987)</a> introduced a cosmid containing the human type II collagen gene, including 4.5 kb of 5-prime and 2.2 kb of 3-prime flanking DNA, into mouse embryonic cells in vitro. Human type II collagen mRNA was found only in tissues that showed transcription from the endogenous (mouse) gene, and human type II collagen was found in cartilage. The findings indicated that the cis-acting requirements for correct temporal and spatial regulation of the gene were fulfilled by the introduced DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3033664" 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>Several skeletal and ocular disorders have been found to be caused by mutation in the COL2A1 gene. These are sometimes referred to as type II collagenopathies.</p>
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<p><a href="#10" class="mim-tip-reference" title="Barat-Houari, M., Sarrabay, G., Gatinois, V., Fabre, A., Dumont, B., Genevieve, D., Touitou, I. <strong>Mutation update for COL2A1 gene variants associated with type II collagenopathies.</strong> Hum. Mutat. 37: 7-15, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26443184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26443184</a>] [<a href="https://doi.org/10.1002/humu.22915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26443184">Barat-Houari et al. (2016)</a> provided a review of COL2A1 variants in type II collagenopathies, including 415 different mutations in 598 probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26443184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Spondyloepiphyseal Dysplasia Congenita</em></strong>
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<p>The first evidence for a defect in COL2A1 in SED congenita (SEDC; <a href="/entry/183900">183900</a>) and in Langer-Saldino achondrogenesis (ACG2; <a href="/entry/200610">200610</a>) was the finding of abnormal patterns of digestion of type II collagen by cyanogen bromide, as demonstrated by <a href="#39" class="mim-tip-reference" title="Horton, W. A. <strong>Personal Communication.</strong> Houston, Texas 1987."None>Horton (1987)</a>. Confirmation of the defect in SED congenita was provided by demonstration of mutation in COL2A1 (<a href="#0001">120140.0001</a> and <a href="#0002">120140.0002</a>).</p>
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<p><strong><em>Achondrogenesis Type II</em></strong>
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<p><a href="#31" class="mim-tip-reference" title="Godfrey, M., Hollister, D. W. <strong>Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.</strong> Am. J. Hum. Genet. 43: 904-913, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3195588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3195588</a>]" pmid="3195588">Godfrey and Hollister (1988)</a> presented evidence that the patient they studied with a lethal perinatal form of short-limbed dwarfism (ACG2; <a href="/entry/200610">200610</a>) was heterozygous for an abnormal pro-alpha-1(II) chain which impaired the assembly and/or folding of type II collagen. <a href="#111" class="mim-tip-reference" title="Vissing, H., D'Alessio, M., Lee, B., Ramirez, F., Godfrey, M., Hollister, D. W. <strong>Glycine to serine substitution in the triple helical domain of pro-alpha-1(II) collagen results in a lethal perinatal form of short-limbed dwarfism.</strong> J. Biol. Chem. 264: 18265-18267, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2572591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2572591</a>]" pmid="2572591">Vissing et al. (1989)</a> demonstrated that the mutation in the type II procollagen gene was a single base change that converted the codon for glycine (GGC) at amino acid 943 to a codon for serine (AGC) (<a href="#0002">120140.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2572591+3195588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Stickler Syndrome, Type I</em></strong>
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</p>
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<p>Francomano et al. (<a href="#25" class="mim-tip-reference" title="Francomano, C. A., Liberfarb, R. M., Hirose, T., Maumenee, I. H., Streeten, E. A., Meyers, D. A., Pyeritz, R. E. <strong>The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.</strong> Genomics 1: 293-296, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896625</a>] [<a href="https://doi.org/10.1016/0888-7543(87)90027-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896625">1987</a>, <a href="#26" class="mim-tip-reference" title="Francomano, C. A., Maumenee, I., Liberfarb, R., Pyeritz, R. E. <strong>Cosegregation of Stickler syndrome and type II collagen gene alleles. (Abstract)</strong> Cytogenet. Cell Genet. 46: 615 only, 1987."None>1987</a>) demonstrated absolute linkage of COL2A1 and Stickler syndrome (STL1; <a href="/entry/108300">108300</a>); a total lod score of 3.96 at theta = 0.0 was obtained. In a family with Stickler syndrome, Ahmad et al. (<a href="#2" class="mim-tip-reference" title="Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. <strong>A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A206 only, 1990."None>1990</a>, <a href="#1" class="mim-tip-reference" title="Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Jimenez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. <strong>Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).</strong> Proc. Nat. Acad. Sci. 88: 6624-6627, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677770</a>] [<a href="https://doi.org/10.1073/pnas.88.15.6624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677770">1991</a>) identified a mutation in the COL2A1 gene (<a href="#0005">120140.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1677770+2896625" 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>Mutation in the COL2A1 gene (<a href="#0014">120140.0014</a>) has also been found in a nonsyndromic ocular form of type I Stickler syndrome (<a href="/entry/609508">609508</a>).</p>
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<p>In a patient with Stickler syndrome type I, who had a clinical diagnosis of otospondylomegaepiphyseal dysplasia (OSMED; <a href="/entry/215150">215150</a>), <a href="#67" class="mim-tip-reference" title="Miyamoto, Y., Nakashima, E., Hiraoka, H., Ohashi, H., Ikegawa, S. <strong>A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.</strong> Hum. Genet. 118: 175-178, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16189708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16189708</a>] [<a href="https://doi.org/10.1007/s00439-005-0058-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16189708">Miyamoto et al. (2005)</a> identified a splice acceptor mutation in intron 10 (709-2A-G; <a href="#0048">120140.0048</a>) of the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16189708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Osteoarthritis Associated with Chondrodysplasia</em></strong>
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</p>
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<p><a href="#48" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P., Moskowitz, R. W., Weaver, E. J., Jimenez, S. A., Pathria, M. N., Malemud, C. J., Prockop, D. J. <strong>Genetic linkage of the type II procollagen gene to primary generalized osteoarthritis with chondrodysplasia. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1024 only, 1989."None>Knowlton et al. (1989)</a> found tight linkage (no recombination) of the COL2A1 gene with a precocious form of familial primary generalized osteoarthritis (OA) associated with chondrodysplasia (OSCDP; <a href="/entry/604864">604864</a>). In the full report of this family, <a href="#47" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> stated that a 16-year-old male had osteoarthritis of the middle metacarpophalangeal joints and hips as well as bilateral osteochondritis dissecans of the capitellum. A 38-year-old female also had osteoarthritis of the spine, wrists, proximal interphalangeal joints, and distal interphalangeal joints. Vertebral bodies were flattened with Schmorl nodes. Linkage analysis suggested that the mutation is in the COL2A1 locus with a maximum lod score of 2.39 in multipoint analysis. Morphometrics demonstrated a short trunk producing abnormally low upper segment to lower segment ratio. A mutation in the COL2A1 gene (<a href="#0003">120140.0003</a>) in affected members of the kindred described by <a href="#47" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> was identified by <a href="#5" class="mim-tip-reference" title="Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J. <strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong> Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975693</a>] [<a href="https://doi.org/10.1073/pnas.87.17.6565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975693">Ala-Kokko et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2300123+1975693" 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="#69" class="mim-tip-reference" title="Nelson, F., Dahlberg, L., Laverty, S., Reiner, A., Pidoux, I., Ionescu, M., Fraser, G. L., Brooks, E., Tanzer, M., Rosenberg, L. C., Dieppe, P., Poole, A. R. <strong>Evidence for altered synthesis of type II collagen in patients with osteoarthritis.</strong> J. Clin. Invest. 102: 2115-2125, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9854047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9854047</a>] [<a href="https://doi.org/10.1172/JCI4853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9854047">Nelson et al. (1998)</a> presented further evidence that the synthesis of type II collagen is increased in osteoarthritis. Using an immunoassay, they showed that the content of the C-propeptide of type II procollagen, released extracellularly from the newly synthesized molecule, is directly related to the synthesis of this molecule in healthy and osteoarthritic articular cartilage. In OA cartilage, the content of the type II procollagen is often markedly elevated (mean 7.6-fold). The increase in type II procollagen in OA cartilage was not reflected in serum, where a significant reduction was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9854047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Kniest Dysplasia</em></strong>
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</p>
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<p><a href="#116" class="mim-tip-reference" title="Wilkin, D. J., Artz, A. S., South, S., Lachman, R. S., Rimoin, D. L., Wilcox, W. R., McKusick, V. A., Stratakis, C. A., Francomano, C. A., Cohn, D. H. <strong>Small deletions in the type II collagen triple helix produce Kniest dysplasia.</strong> Am. J. Med. Genet. 85: 105-112, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406661</a>]" pmid="10406661">Wilkin et al. (1999)</a> noted that 10 of 12 previously described dominant mutations in the COL2A1 gene in patients with Kniest dysplasia caused small deletions in the type II collagen molecule. They added 4 new mutations, bringing the total to 16. All 4 new mutations were also small deletions; a fifth patient was found to have a previously reported 28-bp deletion (<a href="#0012">120140.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406661" 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>COL2A1 has 10 in-frame CGA codons that can mutate to TGA stop codons by a methylation-deamination mechanism. <a href="#118" class="mim-tip-reference" title="Wilkin, D. J., Liberfarb, R., Davis, J., Levy, H. P., Cole, W. G., Francomano, C. A., Cohn, D. H. <strong>Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.</strong> Am. J. Med. Genet. 94: 141-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982970</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982970">Wilkin et al. (2000)</a> analyzed these 10 codons using restriction endonuclease analysis or allele-specific amplification. Mutations at 5 COL2A1 CGA codons were identified in 8 of 40 patients with Stickler syndrome, suggesting that these are common sites of mutation in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982970" 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="#49" class="mim-tip-reference" title="Korkko, J., Cohn, D. H., Ala-Kokko, L., Krakow, D., Prockop, D. J. <strong>Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.</strong> Am. J. Med. Genet. 92: 95-100, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10797431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10797431</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10797431">Korkko et al. (2000)</a> performed COL2A1 mutation analysis on 12 patients with achondrogenesis type II/hypochondrogenesis, using conformation sensitive gel electrophoresis, followed by sequencing. Mutations were identified in all patients. Ten had single base substitutions, 1 had a change in a consensus RNA splice site, and 1 was an 18-bp deletion of coding sequences. Mutations were widely distributed across the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10797431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 sporadic cases of the Torrance type of platyspondylic skeletal dysplasia (<a href="/entry/151210">151210</a>), <a href="#71" class="mim-tip-reference" title="Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S. <strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong> J. Med. Genet. 41: 75-79, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>] [<a href="https://doi.org/10.1136/jmg.2003.013722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14729840">Nishimura et al. (2004)</a> identified de novo mutations in the COL2A1 gene (<a href="#0039">120140.0039</a>-<a href="#0040">120140.0040</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14729840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Avascular Necrosis of the Femoral Head and Legg-Calve-Perthes Disease</em></strong>
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</p>
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<p>Avascular necrosis of the femoral head (see ANFH1, <a href="/entry/608805">608805</a>) causes disability that often requires surgical intervention. Most cases of ANFH are sporadic, but <a href="#58" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> identified 3 families in which there was autosomal dominant inheritance of the disease with mapping of the phenotype to 12q13. <a href="#58" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> carried out haplotype analysis in the families, selected candidate genes from the critical interval for an ANFH on 12q13, and sequenced the promoter and exonic regions of the COL2A1 gene from persons with inherited and sporadic forms of ANFH. In 2 of the families they identified the same gly1170-to-ser mutation (<a href="#0043">120140.0043</a>), on different haplotype backgrounds. The gly717-to-ser mutation was detected in the third family (<a href="#0044">120140.0044</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930420" 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="#66" class="mim-tip-reference" title="Miyamoto, Y., Matsuda, T., Kitoh, H., Haga, N., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.</strong> Hum. Genet. 121: 625-629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394019</a>] [<a href="https://doi.org/10.1007/s00439-007-0354-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17394019">Miyamoto et al. (2007)</a> identified the gly1170-to-ser mutation (<a href="#0043">120140.0043</a>) in affected members of a Japanese family with an autosomal dominant disorder manifesting as Legg-Calve-Perthes disease (LCPD; <a href="/entry/150600">150600</a>), a form of ANFH in growing children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 40-year-old man who was diagnosed with avascular necrosis of the femoral head at 18 years of age and underwent bilateral hip replacement at 33 years of age, <a href="#44" class="mim-tip-reference" title="Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L. <strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong> Am. J. Med. Genet. 155A: 1759-1762, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>] [<a href="https://doi.org/10.1002/ajmg.a.34056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21671384">Kannu et al. (2011)</a> identified a heterozygous missense mutation in the C-propeptide region of the COL2A1 gene (<a href="#0054">120140.0054</a>). The authors noted that mutations in the C-propeptide region typically cause significant skeletal findings unlike those found in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Other Disorders Caused by COL2A1 Mutations</em></strong>
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<div class="mim-changed mim-change"><p>Other disorders caused by mutation in the COL2A1 gene include spondylometaphyseal dysplasia (SMD; <a href="/entry/184252">184252</a>; see <a href="#0013">120140.0013</a>); Strudwick type of spondyloepimetaphyseal dysplasia (<a href="/entry/184250">184250</a>; see <a href="#0017">120140.0017</a>); multiple epiphyseal dysplasia with myopia and conductive deafness (<a href="/entry/132450">132450</a>; see <a href="#0029">120140.0029</a>); spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>; see <a href="#0030">120140.0030</a>); platyspondylic skeletal dysplasia, Torrance type (<a href="/entry/151210">151210</a>; see <a href="#0039">120140.0039</a>); Czech dysplasia (<a href="/entry/609162">609162</a>; see <a href="#0018">120140.0018</a>); rhegmatogenous retinal detachment (see <a href="/entry/609508">609508</a>; see <a href="#0045">120140.0045</a>); vitreoretinopathy with phalangeal epiphyseal dysplasia (<a href="#0037">120140.0037</a>); Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; <a href="/entry/616583">616583</a>; see <a href="#0055">120140.0055</a>); and Algerian type of spondylometaphyseal dysplasia (SMDALG; <a href="/entry/184253">184253</a>; see <a href="#0057">120140.0057</a>).</p></div>
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<p><a href="#60" class="mim-tip-reference" title="Machol, K., Jain, M., Almannai, M., Orand, T., Lu, J. T., Tran, A., Chen, Y., Schlesinger, A., Gibbs, R., Bonafe, L., Campos-Xavier, A. B., Unger, S., Superti-Furga, A., Lee, B. H., Campeau, P. M., Burrage, L. C. <strong>Corner fracture type spondylometaphyseal dysplasia: overlap with type II collagenopathies.</strong> Am. J. Med. Genet. 173A: 733-739, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27888646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27888646</a>] [<a href="https://doi.org/10.1002/ajmg.a.38059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27888646">Machol et al. (2017)</a> reported 2 unrelated patients diagnosed with the corner fracture type of spondylometaphyseal dysplasia (see SMDCF, <a href="/entry/184255">184255</a>) in whom heterozygous mutations in the COL2A1 gene were reported, G345D and G945S, respectively. The G345D mutation had previously been detected in a patient diagnosed with the Strudwick type of spondyloepimetaphyseal dysplasia (SEMDSTWK, <a href="/entry/184250">184250</a>) by <a href="#9" class="mim-tip-reference" title="Barat-Houari, M., Dumont, B., Fabre, A., Them, F. T. M., Alembik, Y., Alessandri, J.-L., Amiel, J., Audebert, S., Baumann-Morel, C., Blanchet, P., Bieth, E., Brechard, M., and 43 others. <strong>The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype.</strong> Europ. J. Hum. Genet. 24: 992-1000, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626311</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26626311[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26626311">Barat-Houari et al. (2016)</a>, and the G945S mutation had previously been reported by <a href="#101" class="mim-tip-reference" title="Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., and 44 others. <strong>A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.</strong> Am. J. Med. Genet. 167A: 461-475, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25604898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25604898</a>] [<a href="https://doi.org/10.1002/ajmg.a.36922" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25604898">Terhal et al. (2015)</a> in 5 affected members of a Dutch family diagnosed with mild spondyloepiphyseal dysplasia congenita resembling multiple epiphyseal dysplasia (see EDM1, <a href="/entry/132400">132400</a>). Noting that <a href="#113" class="mim-tip-reference" title="Walter, K., Tansek, M., Tobias, E. S., Ikegawa, S., Coucke, P., Hyland, J., Mortier, G., Iwaya, T., Nishimura, G., Superti-Furga, A., Unger, S. <strong>COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.</strong> Am. J. Med. Genet. 143A: 161-167, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17163530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17163530</a>] [<a href="https://doi.org/10.1002/ajmg.a.31516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17163530">Walter et al. (2007)</a> also described a COL2A1-mutated patient with primarily metaphyseal involvement and apparent 'corner fractures,' <a href="#60" class="mim-tip-reference" title="Machol, K., Jain, M., Almannai, M., Orand, T., Lu, J. T., Tran, A., Chen, Y., Schlesinger, A., Gibbs, R., Bonafe, L., Campos-Xavier, A. B., Unger, S., Superti-Furga, A., Lee, B. H., Campeau, P. M., Burrage, L. C. <strong>Corner fracture type spondylometaphyseal dysplasia: overlap with type II collagenopathies.</strong> Am. J. Med. Genet. 173A: 733-739, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27888646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27888646</a>] [<a href="https://doi.org/10.1002/ajmg.a.38059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27888646">Machol et al. (2017)</a> suggested that SMDCF may be a heterogeneous disorder with a subset of patients showing overlap with type II collagenopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27888646+17163530+25604898+26626311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Somatic Mutation in Chondrosarcoma</em></strong>
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<p><a href="#100" class="mim-tip-reference" title="Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others. <strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong> Nature Genet. 45: 923-926, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23770606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23770606</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23770606[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23770606">Tarpey et al. (2013)</a> reported comprehensive genomic analyses of 49 individuals with chondrosarcoma (<a href="/entry/215300">215300</a>) and identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions, and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, <a href="#100" class="mim-tip-reference" title="Tarpey, P. S., Behjati, S., Cooke, S. L., Van Loo, P., Wedge, D. C., Pillay, N., Marshall, J., O'Meara, S., Davies, H., Nik-Zainal, S., Beare, D., Butler, A., and 22 others. <strong>Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.</strong> Nature Genet. 45: 923-926, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23770606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23770606</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23770606[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23770606">Tarpey et al. (2013)</a> identified mutations in IDH1 (<a href="/entry/147700">147700</a>) or IDH2 (<a href="/entry/147650">147650</a>) (59%), TP53 (<a href="/entry/191170">191170</a>) (20%), the RB1 pathway (see <a href="/entry/614041">614041</a>) (33%), and Sonic hedgehog signaling (<a href="/entry/600725">600725</a>) (18%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23770606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Associations Pending Confirmation</em></strong>
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<p><a href="#34" class="mim-tip-reference" title="Helfgott, S. M., Mosciscki, R. A., San Martin, J., Lorenzo, C., Kieval, R., McKenna, M., Nadol, J., Trentham, D. E. <strong>Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss.</strong> Lancet 337: 387-389, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1671423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1671423</a>] [<a href="https://doi.org/10.1016/0140-6736(91)91165-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1671423">Helfgott et al. (1991)</a> suggested that collagen type II may not only be involved in the sensorineural deafness that accompanies hereditary disorders such as spondyloepiphyseal dysplasia congenita and Stickler syndrome but may also be the target of an autoimmune process in some cases of acquired bilateral progressive sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1671423" 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="#57" class="mim-tip-reference" title="Liberfarb, R. M., Levy, H. P., Peter, S. R., Wilkin, D. J., Davis, J., Balog, J. Z., Griffith, A. J., Szymko-Bennett, Y. M., Johnston, J. J., Rubin, B. I., Francomano, C. A. <strong>The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from 7 mutations in the type II collagen gene locus COL2A1.</strong> Genet. Med. 5: 21-27, 2003. Note: Erratum: Genet. Med. 5: 478 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12544472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12544472</a>] [<a href="https://doi.org/10.1097/00125817-200301000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12544472">Liberfarb et al. (2003)</a> performed genotype/phenotype correlations in 47 affected members from 10 families with 7 defined mutations in the COL2A1 gene based on review of medical records and clinical evaluation of 25 additional family members from 6 of the 10 families. The ages ranged from 2 to 73 years with a mean age of 34.7 years. The classic Stickler phenotype was expressed clinically in all 10 Stickler families with COL2A1 mutations and all had evidence of vitreous degeneration type 1. Myopia was present in 41 of 47 family members. There was considerable interfamilial and intrafamilial variability in clinical expression. The prevalence of certain clinical features was a function of age. <a href="#57" class="mim-tip-reference" title="Liberfarb, R. M., Levy, H. P., Peter, S. R., Wilkin, D. J., Davis, J., Balog, J. Z., Griffith, A. J., Szymko-Bennett, Y. M., Johnston, J. J., Rubin, B. I., Francomano, C. A. <strong>The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from 7 mutations in the type II collagen gene locus COL2A1.</strong> Genet. Med. 5: 21-27, 2003. Note: Erratum: Genet. Med. 5: 478 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12544472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12544472</a>] [<a href="https://doi.org/10.1097/00125817-200301000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12544472">Liberfarb et al. (2003)</a> concluded that it is difficult to predict the severity of the phenotype based on the genotype of COL2A1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12544472" 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="#70" class="mim-tip-reference" title="Nishimura, G., Haga, N., Kitoh, H., Tanaka, Y., Sonoda, T., Kitamura, M., Shirahama, S., Itoh, T., Nakashima, E., Ohashi, H., Ikegawa, S. <strong>The phenotypic spectrum of COL2A1 mutations.</strong> Hum. Mutat. 26: 36-43, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15895462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15895462</a>] [<a href="https://doi.org/10.1002/humu.20179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15895462">Nishimura et al. (2005)</a> searched for COL2A1 mutations in 56 families suspected of having type II collagenopathies and found 38 mutations in 41 families. There were no radiologic differences between the cases with and those without mutations. Phenotypes for all 22 missense mutations and 1 in-frame deletion in the triple-helical region fell along the SED spectrum. Glycine-to-serine substitutions resulted in alternating zones that produced more severe and milder phenotypes; glycine-to-nonserine residue substitutions exclusively created more severe phenotypes. The gradient of the SED spectrum did not necessarily correlate with the occurrence of extraskeletal manifestations. All 9 truncation or splice site mutations in the triple-helical or N-propeptide region caused either Stickler syndrome type I or Kniest dysplasia (<a href="/entry/156550">156550</a>), and extraskeletal changes were consistently present in both phenotypes. All 6 C-propeptide mutations produced a range of atypical skeletal phenotypes and created ocular, but not otolaryngologic, changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15895462" 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="#36" class="mim-tip-reference" title="Hoornaert, K. P., Dewinter, C., Vereecke, I., Beemer, F. A., Courtens, W., Fryer, A., Fryssira, H., Lees, M., Mullner-Eidenbock, A., Rimoin, D. L., Siderius, L., Superti-Furga, A., Temple, K., Willems, P. J., Zankl, A., Zweier, C., De Paepe, A., Coucke, P., Mortier, G. R. <strong>The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.</strong> J. Med. Genet. 43: 406-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16155195[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/10.1136/jmg.2005.035717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155195">Hoornaert et al. (2006)</a> noted that the majority of COL2A1 mutations are substitutions of obligatory glycine residues in the triple-helical domain; of the few nonglycine missense mutations that have been reported, arginine-to-cysteine substitutions predominate. <a href="#36" class="mim-tip-reference" title="Hoornaert, K. P., Dewinter, C., Vereecke, I., Beemer, F. A., Courtens, W., Fryer, A., Fryssira, H., Lees, M., Mullner-Eidenbock, A., Rimoin, D. L., Siderius, L., Superti-Furga, A., Temple, K., Willems, P. J., Zankl, A., Zweier, C., De Paepe, A., Coucke, P., Mortier, G. R. <strong>The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.</strong> J. Med. Genet. 43: 406-413, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16155195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16155195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16155195[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/10.1136/jmg.2005.035717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16155195">Hoornaert et al. (2006)</a> investigated the clinical and radiologic phenotype in 11 patients in whom they had identified arg-to-cys mutations in the COL2A1 gene. Each mutation resulted in a rather constant and site-specific phenotype, but a perinatally lethal disorder was never observed. Spondyloarthropathy with normal stature and no ocular involvement were features of patients with the R75C (<a href="#0018">120140.0018</a>), R519C (<a href="#0003">120140.0003</a>), or R1076C mutation. Short third and fourth toes were a distinguishing feature of the R75C mutation, and brachydactyly with enlarged finger joints was a key feature of the R1076C substitution. Stickler dysplasia with brachydactyly was observed in patients with the R704C (<a href="#0029">120140.0029</a>) mutation. The R365C (<a href="#0033">120140.0033</a>) and R789C (<a href="#0016">120140.0016</a>) mutations resulted in classic Stickler dysplasia and spondyloepiphyseal dysplasia congenita, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16155195" 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="Barat-Houari, M., Dumont, B., Fabre, A., Them, F. T. M., Alembik, Y., Alessandri, J.-L., Amiel, J., Audebert, S., Baumann-Morel, C., Blanchet, P., Bieth, E., Brechard, M., and 43 others. <strong>The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype.</strong> Europ. J. Hum. Genet. 24: 992-1000, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626311</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26626311[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26626311">Barat-Houari et al. (2016)</a> screened the COL2A1 gene in a cohort of 136 probands with clinical and/or radiographic suspicion of a type II collagen disorder. The authors identified 66 different mutations, spread throughout the COL2A1 gene, in 71 probands. They noted that the molecular spectrum was different across various diseases, e.g., all variant types were seen in Stickler syndrome, whereas only missense variants were seen in SEDC. <a href="#9" class="mim-tip-reference" title="Barat-Houari, M., Dumont, B., Fabre, A., Them, F. T. M., Alembik, Y., Alessandri, J.-L., Amiel, J., Audebert, S., Baumann-Morel, C., Blanchet, P., Bieth, E., Brechard, M., and 43 others. <strong>The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype.</strong> Europ. J. Hum. Genet. 24: 992-1000, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626311</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26626311[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2015.250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26626311">Barat-Houari et al. (2016)</a> stated that their results demonstrated the limits of focusing on a single gene for genetic diagnosis, given the lack of clear phenotype-to-genotype correlation, and suggested that a targeted next-generation sequencing approach should be used to screen patients with skeletal dysplasias for other candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26626311" 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>Reviews</em></strong></p><p>
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<a href="#52" class="mim-tip-reference" title="Kuivaniemi, H., Tromp, G., Prockop, D. J. <strong>Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.</strong> Hum. Mutat. 9: 300-315, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101290</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9101290">Kuivaniemi et al. (1997)</a> tabulated all reported disease-producing mutations in the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9101290" 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="#108" class="mim-tip-reference" title="Vandenberg, P., Khillan, J. S., Prockop, D. J., Helminen, H., Kontusaari, S., Ala-Kokko, L. <strong>Expression of a partially deleted gene of a human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.</strong> Proc. Nat. Acad. Sci. 88: 7640-7644, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1881905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1881905</a>] [<a href="https://doi.org/10.1073/pnas.88.17.7640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1881905">Vandenberg et al. (1991)</a> found that transgenic mice carrying a partially deleted human COL2A1 gene developed the phenotype of a chondrodysplasia with dwarfism, short and thick limbs, short snout, cranial bulge, cleft palate, and delayed mineralization of bone. In cultured chondrocytes from transgenic mice, the minigene was expressed as shortened pro-alpha-1(II) chains that were disulfide-linked to normal mouse type II collagen chains. Therefore, the phenotype was probably explained by depletion of endogenous mouse type II procollagen through the phenomenon of procollagen suicide. <a href="#29" class="mim-tip-reference" title="Garofalo, S., Vuorio, E., Metsaranta, M., Rosati, R., Toman, D., Vaughan, J., Lozano, G., Mayne, R., Ellard, J., Horton, W., de Crombrugghe, B. <strong>Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha-1-chain gene.</strong> Proc. Nat. Acad. Sci. 88: 9648-9652, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946380</a>] [<a href="https://doi.org/10.1073/pnas.88.21.9648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1946380">Garofalo et al. (1991)</a> generated transgenic mice harboring a glycine-to-cysteine mutation at residue 85 of the triple-helical domain of mouse type II collagen. Offspring displayed severe chondrodysplasia with short limbs and trunk, craniofacial deformities, and cleft palate. Affected pups died of acute respiratory distress caused by inability to inflate the lungs at birth. Electron microscopic analysis showed a pronounced decrease in the number of typical thin cartilage collagen fibrils, distention of the rough endoplasmic reticulum of chondrocytes, and the presence of abnormally large banded collagen fibril bundles. <a href="#29" class="mim-tip-reference" title="Garofalo, S., Vuorio, E., Metsaranta, M., Rosati, R., Toman, D., Vaughan, J., Lozano, G., Mayne, R., Ellard, J., Horton, W., de Crombrugghe, B. <strong>Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha-1-chain gene.</strong> Proc. Nat. Acad. Sci. 88: 9648-9652, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946380</a>] [<a href="https://doi.org/10.1073/pnas.88.21.9648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1946380">Garofalo et al. (1991)</a> postulated that the abnormally thick collagen bundles were related to a defect in crosslinking. They pointed out similarities to the chondrodysplasias of the spondyloepiphyseal dysplasia group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1881905+1946380" 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="#56" class="mim-tip-reference" title="Li, S. W., Prockop, D. J., Helminen, H., Fassler, R., Lapvetelainen, T., Kiraly, K., Peltarri, A., Arokoski, J., Lui, H., Arita, M., Khillan, J. S. <strong>Transgenic mice with targeted inactivation of the Col2a1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone.</strong> Genes Dev. 9: 2821-2830, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590256</a>] [<a href="https://doi.org/10.1101/gad.9.22.2821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590256">Li et al. (1995)</a> used homologous recombination in embryonic stem cells to prepare transgenic mice with an inactivated COL2A1 gene. Heterozygous mice had minimal phenotypic changes. Homozygous mice were delivered vaginally but died either just before or shortly after birth. In these mice the cartilage consisted of highly disorganized chondrocytes with a complete lack of extracellular fibrils discernible by electron microscopy. There was no endochondral bone or epiphyseal growth plate in long bones; however, many skeletal structures such as the cranium and ribs were normally developed and mineralized. <a href="#56" class="mim-tip-reference" title="Li, S. W., Prockop, D. J., Helminen, H., Fassler, R., Lapvetelainen, T., Kiraly, K., Peltarri, A., Arokoski, J., Lui, H., Arita, M., Khillan, J. S. <strong>Transgenic mice with targeted inactivation of the Col2a1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone.</strong> Genes Dev. 9: 2821-2830, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590256</a>] [<a href="https://doi.org/10.1101/gad.9.22.2821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590256">Li et al. (1995)</a> concluded that a well-organized cartilage matrix is required as a primary tissue for development of some components of the skeleton but is not essential for others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590256" 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="#28" class="mim-tip-reference" title="Gaiser, K. G., Maddox, B. K., Bann, J. G., Boswell, B. A., Keene, D. R., Garofalo, S., Horton, W. A. <strong>Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.</strong> J. Bone Miner. Res. 17: 39-47, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11771668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11771668</a>] [<a href="https://doi.org/10.1359/jbmr.2002.17.1.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11771668">Gaiser et al. (2002)</a> constructed a transgenic mouse model of SED congenita using a type II collagen transgene with an arg789-to-cys change (R789C; <a href="#0016">120140.0016</a>) in combination with a murine Col2a1 promoter directing the gene expression to cartilage. Mice carrying the transgene were shorter overall, had shorter limbs with disorganized growth plates, a short nose, cleft palate, and died at birth. Using cell culture experiments and molecular modeling, <a href="#28" class="mim-tip-reference" title="Gaiser, K. G., Maddox, B. K., Bann, J. G., Boswell, B. A., Keene, D. R., Garofalo, S., Horton, W. A. <strong>Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.</strong> J. Bone Miner. Res. 17: 39-47, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11771668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11771668</a>] [<a href="https://doi.org/10.1359/jbmr.2002.17.1.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11771668">Gaiser et al. (2002)</a> suggested that this Y-position mutation acts in a dominant-negative way, resulting in destabilization of collagen molecules during assembly, reduction in the number of fibrils formed, and abnormal cartilage template function. <a href="#20" class="mim-tip-reference" title="Donahue, L. R., Chang, B., Mohan, S., Miyakoshi, N., Wergedal, J. E., Baylink, D. J., Hawes, N. L., Rosen, C. J., Ward-Bailey, P., Zheng, Q. Y., Bronson, R. T., Johnson, K. R., Davisson, M. T. <strong>A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.</strong> J. Bone Miner. Res. 18: 1612-1621, 2003. Note: Erratum: J. Bone Miner. Res. 22: 2011 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12968670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12968670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12968670[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/10.1359/jbmr.2003.18.9.1612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12968670">Donahue et al. (2003)</a> identified a naturally occurring arg1147-to-cys mutation in the Col2a1 gene in the mouse which resulted in recessive SED congenita with a less severe phenotype, as indicated by the fact that the mice survived to adulthood and reproduced normally. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12968670+11771668" 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>The following is an account of a temporarily confusing aspect of the collagen II gene. <a href="#115" class="mim-tip-reference" title="Weiss, E. H., Cheah, S. E., Grosveld, F. G., Dahl, H. H. M., Solomon, E., Flavell, R. A. <strong>Isolation and characterization of a human collagen alpha1(I)-like gene from a cosmid library.</strong> Nucleic Acids Res. 10: 1981-1992, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6281728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6281728</a>] [<a href="https://doi.org/10.1093/nar/10.6.1981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6281728">Weiss et al. (1982)</a> described a collagen gene isolated in a 40-kb cosmid clone, cosHco11, which has some sequence homology to the alpha-1(I) gene, but which is clearly a different gene. Using this collagen alpha-1(I)-like probe on Southern blots of DNA from somatic cell hybrids, <a href="#86" class="mim-tip-reference" title="Solomon, E., Hiorns, L. R., Cheah, K. S. E., Parkar, M., Weiss, E., Flavell, R. A. <strong>Assignment of a human alpha-1(I)-like collagen gene to chromosome 12, by molecular hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 37: 588-589, 1984."None>Solomon et al. (1984)</a> found that the gene segregated with chromosome 12 and is not syntenic with the alpha-2(I) gene assigned to chromosome 7 (<a href="/entry/120160">120160</a>) or the alpha-1(I) gene assigned to chromosome 17 (<a href="/entry/120150">120150</a>). This gene contains an RFLP with HindIII. A 300-basepair deletion in the alpha-1(I)-like gene mapped by <a href="#86" class="mim-tip-reference" title="Solomon, E., Hiorns, L. R., Cheah, K. S. E., Parkar, M., Weiss, E., Flavell, R. A. <strong>Assignment of a human alpha-1(I)-like collagen gene to chromosome 12, by molecular hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 37: 588-589, 1984."None>Solomon et al. (1984)</a> was demonstrated by <a href="#73" class="mim-tip-reference" title="Pope, F. M., Cheah, K. S. E., Nicholls, A. C., Price, A. B., Grosveld, F. G. <strong>Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for alpha-1-like collagen.</strong> Brit. Med. J. 288: 431-434, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6419953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6419953</a>] [<a href="https://doi.org/10.1136/bmj.288.6415.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6419953">Pope et al. (1984)</a> in a father and son with one form of Ehlers-Danlos syndrome II (EDS II; <a href="/entry/130010">130010</a>). The deletion was found at or near the 3-prime end of the gene and was not identified in other cases of EDS II or in 400 normal controls. It was found, however, in 4 babies with lethal osteogenesis imperfecta congenita. The father and son with EDS II and the deletion showed altered collagen fibril size and shape. Subsequently, the 'alpha-1(I)-like' gene was shown to encode the alpha subunit of cartilage collagen and it was further shown that there is a polymorphism in this gene that is frequent in Asiatic Indians (<a href="#97" class="mim-tip-reference" title="Sykes, B., Smith, R., Vipond, S., Paterson, C., Cheah, K., Solomon, E. <strong>Exclusion of the alpha-1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.</strong> J. Med. Genet. 22: 187-191, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2989526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2989526</a>] [<a href="https://doi.org/10.1136/jmg.22.3.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2989526">Sykes et al., 1985</a>). Of the 4 cases of <a href="#73" class="mim-tip-reference" title="Pope, F. M., Cheah, K. S. E., Nicholls, A. C., Price, A. B., Grosveld, F. G. <strong>Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for alpha-1-like collagen.</strong> Brit. Med. J. 288: 431-434, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6419953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6419953</a>] [<a href="https://doi.org/10.1136/bmj.288.6415.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6419953">Pope et al. (1984)</a>, 3 originated from India or Sri Lanka. This experience illustrates the hazards of confusing polymorphism with pathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6419953+6281728+2989526" 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="#65" class="mim-tip-reference" title="Meulenbelt, I., Williams, C. J., te Koppele, J. M., van de Giessen, G. C., Slagboom, P. E. <strong>Population haplotype analysis and evolutionary relations of the COL2A1 gene.</strong> Ann. Hum. Genet. 60: 189-199, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8800435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8800435</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1996.tb00422.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8800435">Meulenbelt et al. (1996)</a> determined the allele frequencies and pairwise linkage disequilibria of RFLPs distributed over the COL2A1 gene in a population of unrelated Dutch Caucasians. Their data indicated that disease-related population studies should include a minimum of 4 RFLPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8800435" 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="#93" class="mim-tip-reference" title="Strom, C. M. <strong>Achondroplasia due to DNA insertion into the type II collagen gene. (Abstract)</strong> Pediat. Res. 18: 226A only, 1984."None>Strom (1984)</a> purported to find abnormality of the type II collagen gene in achondroplasia. If such a defect were present, one would expect ocular abnormality in achondroplasia inasmuch as type II collagen is present in vitreous. SED congenita is a more plausible candidate for a structural defect of type II collagen because it is a dominant disorder that combines skeletal dysplasia with vitreous degeneration and deafness (experimental studies with antibodies to type II collagen indicate that this collagen type is represented in the inner ear; <a href="#125" class="mim-tip-reference" title="Yoo, T. J., Tomoda, K., Stuart, J. M., Cremer, M. A., Townes, A. S., Kang, A. H. <strong>Type II collagen-induced autoimmune sensorineural hearing loss and vestibular dysfunction in rats.</strong> Ann. Otol. Rhinol. Laryng. 92: 267-271, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602578</a>] [<a href="https://doi.org/10.1177/000348948309200310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6602578">Yoo et al., 1983</a>). The work of <a href="#93" class="mim-tip-reference" title="Strom, C. M. <strong>Achondroplasia due to DNA insertion into the type II collagen gene. (Abstract)</strong> Pediat. Res. 18: 226A only, 1984."None>Strom (1984)</a> may be technically flawed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6602578" 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>.0001 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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">rs1555164872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555164872;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=rs1555164872" 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=rs1555164872" 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=RCV000018894" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018894" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018894</a>
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<p>In a patient with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; <a href="/entry/183900">183900</a>), <a href="#55" class="mim-tip-reference" title="Lee, B., Vissing, H., Ramirez, F., Rogers, D., Rimoin, D. <strong>Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.</strong> Science 244: 978-980, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2543071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2543071</a>] [<a href="https://doi.org/10.1126/science.2543071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2543071">Lee et al. (1989)</a> demonstrated a heterozygous in-frame deletion of exon 48 of the COL2A1 gene, which encodes amino acid residues 964-999 of the triple-helical of domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2543071" 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">rs121912864 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912864;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=rs121912864" 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=rs121912864" 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=RCV000018895" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018895" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018895</a>
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<p>In a patient described by <a href="#31" class="mim-tip-reference" title="Godfrey, M., Hollister, D. W. <strong>Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.</strong> Am. J. Hum. Genet. 43: 904-913, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3195588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3195588</a>]" pmid="3195588">Godfrey and Hollister (1988)</a> with 'a relatively mild case of type II achondrogenesis-hypochondrogenesis' (see <a href="/entry/200610">200610</a>), <a href="#111" class="mim-tip-reference" title="Vissing, H., D'Alessio, M., Lee, B., Ramirez, F., Godfrey, M., Hollister, D. W. <strong>Glycine to serine substitution in the triple helical domain of pro-alpha-1(II) collagen results in a lethal perinatal form of short-limbed dwarfism.</strong> J. Biol. Chem. 264: 18265-18267, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2572591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2572591</a>]" pmid="2572591">Vissing et al. (1989)</a> demonstrated heterozygosity for a G-to-A transition in exon 46 of the COL2A1 gene that converted glycine-943 to serine (G943S). The substitution disrupted the invariant Gly-X-Y structural motif necessary for perfect helix formation and led to an excessive overmodification, intracellular retention, and reduced secretion of type II collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2572591+3195588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA</strong>
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COL2A1, ARG519CYS
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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> rs121912865 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912865;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/rs121912865?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=rs121912865" 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=rs121912865" 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=RCV000018896 OR RCV001390123" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018896, RCV001390123" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018896...</a>
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<p>In the kindred described by <a href="#47" class="mim-tip-reference" title="Knowlton, R. G., Katzenstein, P. L., Moskowitz, R. W., Weaver, E. J., Malemud, C. J., Pathria, M. N., Jimenez, S. A., Prockop, D. J. <strong>Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.</strong> New Eng. J. Med. 322: 526-530, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300123</a>] [<a href="https://doi.org/10.1056/NEJM199002223220807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300123">Knowlton et al. (1990)</a> with osteoarthritis associated with mild chondrodysplasia (OSCDP; <a href="/entry/604864">604864</a>), <a href="#5" class="mim-tip-reference" title="Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J. <strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong> Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975693</a>] [<a href="https://doi.org/10.1073/pnas.87.17.6565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975693">Ala-Kokko et al. (1990)</a> found a heterozygous change from arginine to cysteine at position 519 of the alpha-1(II) chain. In an affected family member who underwent hip surgery, <a href="#22" class="mim-tip-reference" title="Eyre, D. R., Weis, M. A., Moskowitz, R. W. <strong>Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.</strong> J. Clin. Invest. 87: 357-361, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985108</a>] [<a href="https://doi.org/10.1172/JCI114994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1985108">Eyre et al. (1991)</a> demonstrated that approximately one-fourth of the alpha-1(II) chains present in the polymeric extracellular collagen of the patient's cartilage contained the arg519-to-cys substitution. The protein exhibited other abnormal properties including disulfide-bonded alpha-1(II) dimers and signs of posttranslational overmodification. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2300123+1975693+1985108" 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="#35" class="mim-tip-reference" title="Holderbaum, D., Malemud, C. J., Moskowitz, R. W., Haqqi, T. M. <strong>Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.</strong> Biochem. Biophys. Res. Commun. 192: 1169-1174, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507190</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8507190">Holderbaum et al. (1993)</a> referred to 2 additional families with precocious-onset osteoarthritis and mild chondrodysplasia caused by the arg519-to-cys mutation. They reported studies suggesting that the mutation arose independently in at least 2 of the 3 known affected families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8507190" 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="#121" class="mim-tip-reference" title="Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., Ganguly, A. <strong>Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis.</strong> Hum. Molec. Genet. 4: 309-312, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757086</a>] [<a href="https://doi.org/10.1093/hmg/4.2.309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757086">Williams et al. (1995)</a> found the arg519-to-cys mutation in a fourth family with early-onset osteoarthritis and late-onset spondyloepiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Bleasel, J. F., Holderbaum, D., Brancolini, V., Moskowitz, R. W., Considine, E. L., Prockop, D. J., Devoto, M., Williams, C. J. <strong>Five families with arginine-519-to-cysteine mutation in COL2A1: evidence for three distinct founders.</strong> Hum. Mutat. 12: 172-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9711874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9711874</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9711874">Bleasel et al. (1998)</a> reported that the arg519-to-cys mutation in COL2A1 had been identified in 5 families with mild spondyloepiphyseal dysplasia and precocious osteoarthritis. Haplotype analysis identified 3 distinct mutation-bearing haplotypes, with 3 families sharing a common haplotype. For the 3 distinct haplotypes to have derived from a single founder, 3 independent recombination events were required. Thus, the arg519 codon appears to represent a possible site of recurrent mutations in COL2A1, an uncommon phenomenon in collagen genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9711874" 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">rs2136514302 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136514302;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=rs2136514302" 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=rs2136514302" 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=RCV000018898 OR RCV005089276" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018898, RCV005089276" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018898...</a>
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<p>In a sporadic case of spondyloepiphyseal dysplasia (SEDC; <a href="/entry/183900">183900</a>), <a href="#104" class="mim-tip-reference" title="Tiller, G. E., Rimoin, D. L., Murray, L. W., Cohn, D. H. <strong>Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.</strong> Proc. Nat. Acad. Sci. 87: 3889-3893, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2339128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2339128</a>] [<a href="https://doi.org/10.1073/pnas.87.10.3889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2339128">Tiller et al. (1990)</a> found an internal tandem duplication of 45 basepairs within exon 48 of COL2A1, resulting in the addition of 15 amino acids to the triple-helical domain of the protein. The abnormal molecule showed excessive posttranslational modification. The mutation was not carried by either parent, indicating a new dominant mutation. DNA sequence homology in the area of the duplication suggested that the mutation may have arisen by unequal crossover between related sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339128" 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">rs121912866 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912866;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=rs121912866" 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=rs121912866" 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=RCV000018899 OR RCV000726311" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018899, RCV000726311" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018899...</a>
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<p>In a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), Ahmad et al. (<a href="#2" class="mim-tip-reference" title="Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. <strong>A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A206 only, 1990."None>1990</a>, <a href="#1" class="mim-tip-reference" title="Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Jimenez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. <strong>Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).</strong> Proc. Nat. Acad. Sci. 88: 6624-6627, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677770</a>] [<a href="https://doi.org/10.1073/pnas.88.15.6624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677770">1991</a>) found a single base mutation altering the arginine at amino acid 732 of the triple-helical domain of COL2A1 to a stop codon. The mutation altered a CG dinucleotide and converted the codon CGA to TGA. This mutation was located in exon 40. <a href="#1" class="mim-tip-reference" title="Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Jimenez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. <strong>Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).</strong> Proc. Nat. Acad. Sci. 88: 6624-6627, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1677770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1677770</a>] [<a href="https://doi.org/10.1073/pnas.88.15.6624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1677770">Ahmad et al. (1991)</a> noted that the mutation produced marked changes in the eye, which contains only small amounts of type II collagen, but had relatively mild effects on the many cartilaginous structures of the body that are rich in the same protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677770" 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">rs121912867 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912867;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=rs121912867" 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=rs121912867" 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=RCV000018901" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018901" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018901</a>
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<p>In a case of hypochondrogenesis (see <a href="/entry/200610">200610</a>), <a href="#38" class="mim-tip-reference" title="Horton, W. A., Machado, M. A., Ellard, J., Campbell, D., Bartley, J., Ramirez, F., Vitale, E., Lee, B. <strong>Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.</strong> Proc. Nat. Acad. Sci. 89: 4583-4587, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1374906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1374906</a>] [<a href="https://doi.org/10.1073/pnas.89.10.4583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1374906">Horton et al. (1992)</a> detected a subtle mutation in the COL2A1 gene by use of a chondrocyte culture system and PCR-cDNA scanning analysis. Chondrocytes obtained from cartilage biopsies were dedifferentiated and expanded in monolayer culture and then redifferentiated by culture over agarose. Single-strand conformation polymorphism and direct sequencing analysis identified a G-to-A transition, resulting in substitution of glycine by serine at amino acid 574 in the triple-helical domain of type II procollagen. The morphologic assessment of cartilage-like structures produced in culture and electrophoretic analysis of collagens synthesized by the cultured chondrocytes suggested that the glycine substitution interfered with conversion of type II procollagen to collagen, impaired intracellular transport and secretion of the molecule, and disrupted collagen fibril assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1374906" 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">rs2136528572 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136528572;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=rs2136528572" 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=rs2136528572" 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=RCV000018902 OR RCV002513111" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018902, RCV002513111" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018902...</a>
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<p>In a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), <a href="#13" class="mim-tip-reference" title="Brown, D. M., Nichols, B. E., Weingeist, T. A., Sheffield, V. C., Kimura, A. E., Stone, E. M. <strong>Procollagen II gene mutation in Stickler syndrome.</strong> Arch. Ophthal. 110: 1589-1593, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1444917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1444917</a>] [<a href="https://doi.org/10.1001/archopht.1992.01080230089027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1444917">Brown et al. (1992)</a> found that 4 affected members had deletion of a single basepair resulting in a translational frameshift in exon 40 of the COL2A1 gene. The mutation was not found in any of 5 clinically unaffected family members or in any of 15 unrelated control patients. All affected members had abnormal vitreous syneresis and all had retinal perivascular pigmentation. Retinal detachments occurred in 3 of the 4 affected patients. Three of the 4 had peripheral cortical 'wedge' cataracts, and the fourth had extensive nuclear sclerosis. In all 4 affected patients, there were abnormalities of the palate: bilateral torus palatini, linea alba with submucous cleft palate, bifid uvula, and 'notched' hard palate. All patients reported severe joint pains, and radiologic changes suggesting epiphyseal dysplasia were found in all 4. One patient had had left total hip replacement at a relatively young age. Palatal and ocular changes were illustrated by photographs, and radiographs of the skeletal changes were presented. The deletion was reported to involve a thymidine nucleotide at position 18 of exon 40. This resulted in a translational frameshift, with formation of a nonsense codon, TGA, downstream in exon 42, leading to premature termination of translation at that point. The deletion also created a new MspI restriction site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1444917" 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">rs121912868 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912868;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=rs121912868" 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=rs121912868" 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=RCV000018903" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018903" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018903</a>
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<p>In an infant with a severe form of skeletal dysplasia who required continuous respiratory support until his death at 3 months of age, <a href="#12" class="mim-tip-reference" title="Bogaert, R., Tiller, G. E., Weis, M. A., Gruber, H. E., Rimoin, D. L., Cohn, D. H., Eyre, D. R. <strong>An amino acid substitution (gly853-to-glu) in the collagen alpha-1(II) chain produces hypochondrogenesis.</strong> J. Biol. Chem. 267: 22522-22526, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1429602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1429602</a>]" pmid="1429602">Bogaert et al. (1992)</a> demonstrated a gly853-to-glu mutation resulting from a GGA-to-GAA transition in the COL2A1 gene. The patient was heterozygous. The radiologic features were thought to be those of hypochondrogenesis (see <a href="/entry/200610">200610</a>). Unilateral polydactyly had been noted at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1429602" 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>.0010 STICKLER SYNDROME, TYPE I</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">rs121912869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912869;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=rs121912869" 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=rs121912869" 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=RCV000018904 OR RCV000579130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018904, RCV000579130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018904...</a>
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<p>In a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), <a href="#4" class="mim-tip-reference" title="Ahmad, N. N., McDonald-McGinn, D. M., Zackai, E. H., Knowlton, R. G., LaRossa, D., DiMascio, J., Prockop, D. J. <strong>A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.</strong> Am. J. Hum. Genet. 52: 39-45, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434604</a>]" pmid="8434604">Ahmad et al. (1993)</a> found a single-base mutation that converted codon 9 of the COL2A1 gene. (The amino acids of the alpha-1 chain were numbered with the standard convention in which the first amino acid in the triple-helical domain is numbered as +1 (<a href="#7" class="mim-tip-reference" title="Baldwin, C. T., Reginato, A. M., Smith, C., Jimenez, S. A., Prockop, D. J. <strong>Structure of cDNA clones coding for human type II procollagen: the alpha-1(II) chain is more similar to the alpha-1(I) chain than two other alpha chains of fibrillar collagens.</strong> Biochem. J. 262: 521-528, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2803268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2803268</a>] [<a href="https://doi.org/10.1042/bj2620521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2803268">Baldwin et al., 1989</a>).) The mutation changed a CGA codon (arginine) to TGA (stop) codon. This mutation was located in exon 7. The PCR products contained both C and T, indicating that the patient was heterozygous for the mutation. The proband had been identified in a cleft palate clinic at the age of 1 year. He had severe myopia and was at the eighth percentile for height. Pelvic x-rays demonstrated small femoral heads with dumbbell-shaped enlargements of both ends of the femurs. Members in 3 generations and 4 sibships had severe myopia, often with other ocular manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8434604+2803268" 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 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</strong>
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COL2A1, GLY997SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912870;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=rs121912870" 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=rs121912870" 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=RCV000018905 OR RCV000484896 OR RCV001729352 OR RCV002247358 OR RCV002272023 OR RCV002276564 OR RCV003152666 OR RCV003320353" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018905, RCV000484896, RCV001729352, RCV002247358, RCV002272023, RCV002276564, RCV003152666, RCV003320353" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018905...</a>
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<p><a href="#19" class="mim-tip-reference" title="Cole, W. G., Hall, R. K., Rogers, J. G. <strong>The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha-1(II) chain of type II collagen.</strong> J. Med. Genet. 30: 27-35, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8423604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8423604</a>] [<a href="https://doi.org/10.1136/jmg.30.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8423604">Cole et al. (1993)</a> found that a child with SED congenita (SEDC; <a href="/entry/183900">183900</a>) was heterozygous for a G-to-A transition in exon 48 of the COL2A1 gene that resulted in the substitution of glycine-997 by serine in the triple helical domain of the type II collagen chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8423604" 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="0012" class="mim-anchor"></a>
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<strong>.0012 KNIEST DYSPLASIA</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">rs2136609285 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136609285;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=rs2136609285" 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=rs2136609285" 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=RCV000018906 OR RCV003330396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018906, RCV003330396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018906...</a>
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<p><a href="#122" class="mim-tip-reference" title="Winterpacht, A., Hilbert, M., Schwarze, U., Mundlos, S., Spranger, J., Zabel, B. U. <strong>Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.</strong> Nature Genet. 3: 323-326, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981752</a>] [<a href="https://doi.org/10.1038/ng0493-323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981752">Winterpacht et al. (1993)</a> demonstrated a 28-bp deletion spanning the 3-prime exon/intron boundary of exon 12 in a 2-year-old girl with Kniest dysplasia (<a href="/entry/156550">156550</a>). The mother presented with a milder phenotype consistent with the Stickler syndrome. She was shown to have mosaicism for the same deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981752" 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="#116" class="mim-tip-reference" title="Wilkin, D. J., Artz, A. S., South, S., Lachman, R. S., Rimoin, D. L., Wilcox, W. R., McKusick, V. A., Stratakis, C. A., Francomano, C. A., Cohn, D. H. <strong>Small deletions in the type II collagen triple helix produce Kniest dysplasia.</strong> Am. J. Med. Genet. 85: 105-112, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406661</a>]" pmid="10406661">Wilkin et al. (1999)</a> found this same mutation occurring at the junction between exon 12 and intron 12 of the COL2A1 gene in a patient with Kniest syndrome. The mutation deleted the splice donor site and was predicted to result in exon skipping in the mRNA encoded from the mutant allele. The female patient reported by <a href="#116" class="mim-tip-reference" title="Wilkin, D. J., Artz, A. S., South, S., Lachman, R. S., Rimoin, D. L., Wilcox, W. R., McKusick, V. A., Stratakis, C. A., Francomano, C. A., Cohn, D. H. <strong>Small deletions in the type II collagen triple helix produce Kniest dysplasia.</strong> Am. J. Med. Genet. 85: 105-112, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406661</a>]" pmid="10406661">Wilkin et al. (1999)</a>, their patient 4, had previously been reported by <a href="#83" class="mim-tip-reference" title="Siggers, D. C. <strong>Kniest disease. In: Bergsma, D. (ed.): Skeletal Dysplasias.</strong> New York: American Elsevier 1974. Pp. 432-442."None>Siggers (1974)</a> and <a href="#82" class="mim-tip-reference" title="Siggers, D. C., Rimoin, D. L., Dorst, J. P., Doty, S. B., Williams, B. R., Hollister, D. W., Silberberg, R., Granley, R. E., Kaufman, R. L., McKusick, V. A. <strong>The Kniest syndrome.</strong> Birth Defects Orig. Art. Ser. 10(9): 193-208, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4214536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4214536</a>]" pmid="4214536">Siggers et al. (1974)</a>, and by <a href="#63" class="mim-tip-reference" title="Maumenee, I. H., Traboulsi, E. I. <strong>The ocular findings in Kniest dysplasia.</strong> Am. J. Ophthal. 100: 155-160, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4014370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4014370</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)74998-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4014370">Maumenee and Traboulsi (1985)</a>. The diagnosis of Kniest dysplasia had been made at the age of 10.5 years. At that time, her height was 110.5 cm (height age 4 10/12 years). She had a flat and round face, prominent eyes with high myopia, flat bridge of the nose, with broad and prominent forehead, and a cleft uvula. Radiographs demonstrated severe platyspondyly, with greatest involvement of the dorsal spine. The superior and inferior endplates of the vertebral bodies were quite irregular, with spotted mineralization. There was considerable middorsal kyphosis and lumbar lordosis, as well as moderate scoliosis. The anterior-posterior diameters of the vertebral bodies appeared relatively wide, as did the interpedicular spaces. The limbs and hands had short bones, with shafts of normal to slightly diminished diameter, and greatly flared metaphyses and epiphyses. Ossification of the epiphyses was irregular and spotty, with some of the cartilaginous epiphyseal plates relatively wide, particularly at the distal radius and ulna. <a href="#116" class="mim-tip-reference" title="Wilkin, D. J., Artz, A. S., South, S., Lachman, R. S., Rimoin, D. L., Wilcox, W. R., McKusick, V. A., Stratakis, C. A., Francomano, C. A., Cohn, D. H. <strong>Small deletions in the type II collagen triple helix produce Kniest dysplasia.</strong> Am. J. Med. Genet. 85: 105-112, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406661</a>]" pmid="10406661">Wilkin et al. (1999)</a> pointed out that the deletion in this case began with 7 nucleotides in exon 12 that duplicated 7 nucleotides (+3 through +9) of intron 12, creating the basis for homologous recombination with unequal crossing-over leading to deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10406661+4014370+4214536" 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>.0013 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
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COL2A1, GLY154ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912871;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=rs121912871" 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=rs121912871" 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=RCV002280862" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002280862" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002280862</a>
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<p>In a 16-year-old Finnish boy with spondyloepimetaphyseal dysplasia (<a href="/entry/184250">184250</a>), <a href="#110" class="mim-tip-reference" title="Vikkula, M., Ritvaniemi, P., Vuorio, A. F., Kaitila, I., Ala-Kokko, L., Peltonen, L. <strong>A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.</strong> Genomics 16: 282-285, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486375</a>] [<a href="https://doi.org/10.1006/geno.1993.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486375">Vikkula et al. (1993)</a> demonstrated a 1063G-A transition in exon 14 of the COL1A2 gene, which resulted in the conversion of gly154 to arg (G154R). This was a heterozygous de novo mutation which was not found in any other skeletal dysplasia patient studied in Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486375" 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="#43" class="mim-tip-reference" title="Kaitila, I., Korkko, J., Marttinen, E., Ala-Kokko, L. <strong>Phenotypic expressions of a gly154-to-arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).</strong> Am. J. Med. Genet. 63: 111-122, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723096</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<111::AID-AJMG21>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723096">Kaitila et al. (1996)</a> found the same de novo heterozygous G154R mutation in an unrelated 26-year-old Finnish woman with spondyloepimetaphyseal dysplasia and provided follow-up on the patient reported by <a href="#110" class="mim-tip-reference" title="Vikkula, M., Ritvaniemi, P., Vuorio, A. F., Kaitila, I., Ala-Kokko, L., Peltonen, L. <strong>A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.</strong> Genomics 16: 282-285, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486375</a>] [<a href="https://doi.org/10.1006/geno.1993.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486375">Vikkula et al. (1993)</a>. Both patients had been followed since the newborn period at Helsinki University Children's Hospital. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip 'dysplasia.' The metaphyseal abnormalities disappeared by adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8486375+8723096" 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 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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">rs121912872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912872;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=rs121912872" 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=rs121912872" 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=RCV000018908" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018908" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018908</a>
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<p><a href="#50" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> identified a substitution of aspartate for glycine at position 67 in the alpha-1 chain of type II collagen in a family in which affected members had early-onset cataracts, lattice degeneration of the retina, and retinal detachment without involvement of nonocular tissues. Comparison with previously reported mutations suggested to <a href="#50" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> that premature termination codons in the COL2A1 gene are a frequent cause of Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for a bulkier amino acid can produce a broad spectrum of disorders ranging from lethal chondrodysplasia to a syndrome involving only ocular tissues. <a href="#50" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> noted phenotypic similarity to the family described by <a href="#112" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbeknantes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton, Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-857, 1938."None>Wagner (1938)</a> (see <a href="/entry/143200">143200</a>). <a href="#76" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> suggested that the disorder in this family was more likely to be a predominantly ocular form of Stickler syndrome type I (see <a href="/entry/609508">609508</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752401+8317498" 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">rs121912873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912873;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=rs121912873" 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=rs121912873" 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=RCV000018909 OR RCV000725373" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018909, RCV000725373" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018909...</a>
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<p>In a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>) in members of 4 successive generations, <a href="#79" class="mim-tip-reference" title="Ritvaniemi, P., Hyland, J., Ignatius, J., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.</strong> Genomics 17: 218-221, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406454</a>] [<a href="https://doi.org/10.1006/geno.1993.1306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406454">Ritvaniemi et al. (1993)</a> found a deletion of a T in the third base position of the codon CCT for proline at position 846 of the collagen II alpha-1 chain. The deletion of the T shifted the reading frame and generated premature termination. <a href="#79" class="mim-tip-reference" title="Ritvaniemi, P., Hyland, J., Ignatius, J., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.</strong> Genomics 17: 218-221, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406454</a>] [<a href="https://doi.org/10.1006/geno.1993.1306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406454">Ritvaniemi et al. (1993)</a> stated that this was the fourth example of a premature termination codon causing Stickler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406454" 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>.0016 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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">rs121912874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912874;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=rs121912874" 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=rs121912874" 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=RCV000018910 OR RCV000478360 OR RCV000762895 OR RCV000995718" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018910, RCV000478360, RCV000762895, RCV000995718" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018910...</a>
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<p>In a 4-year-old girl with clinical and radiographic features typical of SED congenita (SEDC; <a href="/entry/183900">183900</a>), <a href="#17" class="mim-tip-reference" title="Chan, D., Taylor, T. K. F., Cole, W. G. <strong>Characterization of an arginine 789 to cysteine substitution in alpha-1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.</strong> J. Biol. Chem. 268: 15238-15245, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325895</a>]" pmid="8325895">Chan et al. (1993)</a> found heterozygosity for a 2913C-T transition in exon 14, resulting in an arg789-to-cys (R789C) substitution. The mutation resulted in the loss of an MaeII cleavage site that was used to confirm the fact that the proband was heterozygous and that neither parent had the mutation. Type II collagen extracted from cartilage and from cultured chondrocytes was approximately one-third of the mutant type and secretion of molecules containing mutant chains was impaired. The thermal stability of the collagen extracted from cartilage was normal, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with SED congenita, <a href="#16" class="mim-tip-reference" title="Chan, D., Rogers, J. F., Bateman, J. F., Cole, W. G. <strong>Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.</strong> J. Rheum. Suppl. 43: 37-38, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7752132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7752132</a>]" pmid="7752132">Chan et al. (1995)</a> identified the R789C mutation. The substitution of a cysteine for an arginine in the Y position of the gly-X-Y triplet is noteworthy because cysteine is not normally found in the triple-helical domain of type II collagen in any species (<a href="#52" class="mim-tip-reference" title="Kuivaniemi, H., Tromp, G., Prockop, D. J. <strong>Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.</strong> Hum. Mutat. 9: 300-315, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101290</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9101290">Kuivaniemi et al., 1997</a>). A cysteine at this position provides the opportunity for disulfide bonds to form, thus disrupting the formation of collagen fibrils. Two other arg-to-cys mutations have been described in the COL2A1 gene: R519C (<a href="#0003">120140.0003</a>), resulting in osteoarthritis with mild chondrodysplasia (<a href="/entry/604864">604864</a>), and R75C (<a href="#0018">120140.0018</a>), resulting in spondyloepiphyseal dysplasia with precocious osteoarthritis (<a href="/entry/609162">609162</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9101290+7752132" 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>.0017 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</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">rs121912875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912875;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=rs121912875" 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=rs121912875" 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=RCV002509163" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002509163" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002509163</a>
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<p>Tiller et al. (<a href="#105" class="mim-tip-reference" title="Tiller, G. E., Weis, M. A., Lachman, R. S., Cohn, D. H., Rimoin, D. L., Eyre, D. R. <strong>A dominant mutation in the type II collagen gene (COL2A1) produces spondyloepimetaphyseal dysplasia (SEMD), Strudwick type. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A209 only, 1993."None>1993</a>, <a href="#103" class="mim-tip-reference" title="Tiller, G. E., Polumbo, P. A., Weis, M. A., Bogaert, R., Lachman, R. S., Cohn, D. H., Rimoin, D. L., Eyre, D. R. <strong>Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.</strong> Nature Genet. 11: 87-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550321</a>] [<a href="https://doi.org/10.1038/ng0995-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550321">1995</a>) demonstrated that cartilage from 3 patients with SEMD Strudwick (<a href="/entry/184250">184250</a>) contained both normal alpha-1(II) collagen chains and chains that were posttranslationally overmodified. Cyanogen bromide peptide analysis and protein microsequencing of type II collagen from 1 patient demonstrated an amino acid substitution, gly709-to-cys, in the abnormal alpha chains. Direct DNA sequencing showed heterozygosity for a GGC-to-TGC transversion at the last glycine codon of exon 39. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550321" 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">rs121912876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912876;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=rs121912876" 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=rs121912876" 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=RCV000018912 OR RCV000988828 OR RCV001385337 OR RCV003228897 OR RCV003323361" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018912, RCV000988828, RCV001385337, RCV003228897, RCV003323361" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018912...</a>
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<p>This mutation has also been designated arg275-to-cys (R275C) based on a different numbering system.</p><p>In a family living in the Chiloe Islands, Chile, <a href="#119" class="mim-tip-reference" title="Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., Prockop, D. J. <strong>Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an arg75-to-cys mutation in the procollagen type II gene (COL2A1).</strong> Hum. Genet. 92: 499-505, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244341</a>] [<a href="https://doi.org/10.1007/BF00216458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244341">Williams et al. (1993)</a> demonstrated a heterozygous arg75-to-cys (R75C) mutation in the COL2A1 gene as the basis of spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits. Seven individuals were involved in 3 generations of the family. Complete physical examination, anthropometric measurements, and radiographic studies of the spine and peripheral joints in 16 family members revealed that 7 had spondyloepiphyseal dysplasia tarda, brachydactyly, precocious osteoarthritis, and periarticular calcification, while 2 others had the same syndrome without brachydactyly (<a href="#74" class="mim-tip-reference" title="Reginato, A. J., Passano, G. M., Neumann, G., Falasca, G. F., Diaz-Valdez, M., Jimenez, S. A., Williams, C. J. <strong>Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine75-to-cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.</strong> Arthritis Rheum. 37: 1078-1086, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8024616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8024616</a>] [<a href="https://doi.org/10.1002/art.1780370714" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8024616">Reginato et al., 1994</a>). The relationship of this type of SEDT to familial calcium pyrophosphate dihydrate deposition disease (<a href="/entry/118600">118600</a>) and idiopathic hip dysplasia, both endemic in Chiloe Islanders, required further investigation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244341+8024616" 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="#37" class="mim-tip-reference" title="Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R. <strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong> Europ. J. Hum. Genet. 15: 1269-1275, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726487">Hoornaert et al. (2007)</a> performed targeted sequencing of exon 13 of the COL2A1 gene in patients with Czech dysplasia (<a href="/entry/609162">609162</a>) because of phenotypic similarities between individuals with this dysplasia and patients with the R75C mutation. They identified heterozygosity for the R75C mutation in 5 patients with Czech dysplasia, including 2 of the 4 original patients described with this disorder. All affected individuals had normal height, spondyloarthropathy, and short postaxial toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726487" 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 affected father, daughter, and son from a Japanese family with Czech dysplasia, <a href="#62" class="mim-tip-reference" title="Matsui, Y., Michigami, T., Tachikawa, K., Yamazaki, M., Kawabata, H., Nishimura, G. <strong>Czech dysplasia occurring in a Japanese family.</strong> Am. J. Med. Genet. 149A: 2285-2289, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764028</a>] [<a href="https://doi.org/10.1002/ajmg.a.33010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764028">Matsui et al. (2009)</a> identified heterozygosity for the R275C mutation in the COL2A1 gene. The mutation was not found in the unaffected mother. The authors stated that this was the first reported family with Czech dysplasia that was not of European ancestry, and family history was consistent with de novo occurrence of the disease in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764028" 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">rs794727377 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794727377;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=rs794727377" 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=rs794727377" 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=RCV000018913 OR RCV002247359 OR RCV002513112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018913, RCV002247359, RCV002513112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018913...</a>
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<p><a href="#123" class="mim-tip-reference" title="Winterpacht, A., Schwarze, U., Mundlos, S., Menger, H., Spranger, J., Zabel, B. <strong>Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.</strong> Hum. Molec. Genet. 3: 1891-1893, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849719</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849719">Winterpacht et al. (1994)</a> investigated the molecular defect in a girl with Kniest dysplasia (<a href="/entry/156550">156550</a>) whose father had a very mild form of spondyloepiphyseal dysplasia congenita (SEDC) with premature osteoarthrosis. The father was found to be a mosaic for a mutation that was present in nonmosaic state in the child: an A-to-G transition at the 3-prime end of intron 20 affecting the highly conserved AG dinucleotide of the acceptor splice site. The result was the utilization of a cryptic AG splice site located 18-bp downstream and a resulting in-frame deletion of 18 bp from the mRNA. This situation has similarities to that described in <a href="#0012">120140.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849719" 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">rs121912877 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912877;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=rs121912877" 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=rs121912877" 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=RCV000018914 OR RCV000724305" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018914, RCV000724305" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018914...</a>
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<p><a href="#117" class="mim-tip-reference" title="Wilkin, D. J., Bogaert, R., Lachman, R. S., Rimoin, D. L., Eyre, D. R., Cohn, D. H. <strong>A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.</strong> Hum. Molec. Genet. 3: 1999-2003, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874117</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874117">Wilkin et al. (1994)</a> used SSCP to analyze an amplified genomic DNA fragment containing exon 12, under suspicion because of its deletion in a previously reported patient (<a href="#0012">120140.0012</a>), from 7 individuals with Kniest dysplasia (<a href="/entry/156550">156550</a>). An abnormality was identified in 1 patient who was found on DNA sequence analysis to be heterozygous for a G-to-A transition that implied substitution of glycine-103 of the triple helical domain by aspartate. The mutation was not observed in DNA from either of the clinically unaffected parents. Protein microsequencing demonstrated expression of the abnormal allele in cartilage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874117" 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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COL2A1, GLY769SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912878 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912878;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=rs121912878" 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=rs121912878" 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=RCV000018915" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018915" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018915</a>
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<p>In a fetus with type II achondrogenesis (ACG2; <a href="/entry/200610">200610</a>), <a href="#15" class="mim-tip-reference" title="Chan, D., Cole, W. G., Chow, C. W., Mundlos, S., Bateman, J. F. <strong>A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.</strong> J. Biol. Chem. 270: 1747-1753, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829510</a>]" pmid="7829510">Chan et al. (1995)</a> described heterozygosity for a G-to-A transition at nucleotide 2853 in exon 441 of the COL2A1 gene, resulting in a gly769-to-ser substitution within the triple helical domain of the type II collagen chain. The result was complete absence of type II collagen in cartilage, which had a gelatinous composition. Types I and III collagens were the main species found in cartilage and synthesized by cultured chondrocytes along with cartilage type XI collagen (<a href="/entry/120280">120280</a>). Cultured chondrocytes produced a trace amount of type II collagen that was retained within the cells and not secreted. In situ hybridization of cartilage sections showed that the chondrocytes produced both type I and type II collagen mRNA. <a href="#15" class="mim-tip-reference" title="Chan, D., Cole, W. G., Chow, C. W., Mundlos, S., Bateman, J. F. <strong>A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.</strong> J. Biol. Chem. 270: 1747-1753, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829510</a>]" pmid="7829510">Chan et al. (1995)</a> noted that the gly769 substitution is situated close to the mammalian collagenase cleavage site at gly775/leu776. The abnormality was detected by ultrasonography at 19 weeks of gestation when severe shortening of the limbs and trunk and marked edema around the neck was noted. The pregnancy was terminated at 20 weeks of gestation. External examination showed very short limbs, large head, short trunk, bulging abdomen, and edema of the head and neck. Radiographs, which were presented by <a href="#15" class="mim-tip-reference" title="Chan, D., Cole, W. G., Chow, C. W., Mundlos, S., Bateman, J. F. <strong>A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.</strong> J. Biol. Chem. 270: 1747-1753, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829510</a>]" pmid="7829510">Chan et al. (1995)</a>, showed very short tubular bones with metaphyseal expansion and cupping, absent ossification of the vertebrae and sacrum, small iliac wings with absent ossification of the pubis and ischium, and short ribs, but relatively normal ossification of the calvarium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7829510" 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>.0022 ACHONDROGENESIS, TYPE II</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">rs121912879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912879;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=rs121912879" 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=rs121912879" 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=RCV000022480" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022480" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022480</a>
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<p><a href="#68" class="mim-tip-reference" title="Mortier, G. R., Wilkin, D. J., Wilcox, W. R., Rimoin, D. L., Lachman, R. S., Eyre, D. R., Cohn, D. H. <strong>A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (gly691-to-arg) in the type II collagen trimer.</strong> Hum. Molec. Genet. 4: 285-288, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757081</a>] [<a href="https://doi.org/10.1093/hmg/4.2.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757081">Mortier et al. (1995)</a> examined a male fetus by ultrasound during the third trimester and observed polyhydramnios and severe short-limb dwarfism. The parents elected to induce delivery at 31 weeks of gestation and the neonate, who had achondrogenesis type II (ACG2; <a href="/entry/200610">200610</a>), died soon after birth. There was severe shortening of the limbs and chest with distention of the abdomen. The head was relatively large and the neck appeared short. Radiographs showed absence of ossification of all the vertebral bodies. The chest appeared bell-shaped with mild shortening of the ribs. Anterior and posterior ends of the ribs were flared and cupped. The width of the iliac wings was increased and the greater sciatic notch was wide. The ischium and pubis were not ossified. All the long bones were markedly shortened with flared and cupped metaphyses. Electron microscopy showed inclusion bodies of dilated rough endoplasmic reticulum in chondrocytes and the presence of sparse collagen fibers in the cartilage matrix. Protein analysis of collagen from cartilage indicated posttranslational overmodification of the major cyanogen bromide peptides and suggested a mutation near the carboxyl terminus of the type II collagen molecule. <a href="#68" class="mim-tip-reference" title="Mortier, G. R., Wilkin, D. J., Wilcox, W. R., Rimoin, D. L., Lachman, R. S., Eyre, D. R., Cohn, D. H. <strong>A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (gly691-to-arg) in the type II collagen trimer.</strong> Hum. Molec. Genet. 4: 285-288, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757081</a>] [<a href="https://doi.org/10.1093/hmg/4.2.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757081">Mortier et al. (1995)</a> referred to reports of 3 other dominant mutations in the COL2A1 gene resulting in substitutions for triple helical glycine residues near the carboxy-terminal end of the alpha-1(II) chain and causing hypochondrogenesis. <a href="#68" class="mim-tip-reference" title="Mortier, G. R., Wilkin, D. J., Wilcox, W. R., Rimoin, D. L., Lachman, R. S., Eyre, D. R., Cohn, D. H. <strong>A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (gly691-to-arg) in the type II collagen trimer.</strong> Hum. Molec. Genet. 4: 285-288, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757081</a>] [<a href="https://doi.org/10.1093/hmg/4.2.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757081">Mortier et al. (1995)</a> demonstrated a single base change (G-to-C) that resulted in the substitution of glycine-691 by arginine in the type II collagen triple helical domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757081" 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">rs2136508504 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136508504;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=rs2136508504" 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=rs2136508504" 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=RCV000018916 OR RCV001851924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018916, RCV001851924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018916...</a>
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<p>By direct sequencing of the COL2A1 gene, <a href="#3" class="mim-tip-reference" title="Ahmad, N. N., Dimascio, J., Knowlton, R. G., Tasman, W. S. <strong>Stickler syndrome: a mutation in the nonhelical 3-prime end of type II procollagen gene.</strong> Arch. Ophthal. 113: 1454-1457, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487609</a>] [<a href="https://doi.org/10.1001/archopht.1995.01100110114034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7487609">Ahmad et al. (1995)</a> demonstrated that affected members of a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>) had a single base deletion in exon 50, resulting in a premature stop codon in exon 51 in the globular C-propeptide of the COL2A1 gene. The deletion involved a cytosine at position 92 in exon 50. Three generations were affected in the family. The proband was referred for cataract and total retinal detachment in 1 eye at the age of 3 years. Marked genu valgum, hyperextensibility of joints, cleft palate, and flattened facies were noted. Mild hearing loss was also documented. The father's left eye had been blind since the age of 8 years secondary to a detached retina. Retinal detachment on the right occurred at the age of 39 years. He also showed hyperextensibility of joints and some spinal changes. The proband's paternal uncle suffered detached left retina after diving into a swimming pool at age 15 years. Hyperextensibility of joints and loss of hearing in the left ear were noted at the age of 35 years. Hyperextensible joints were present in other relatives and Pierre Robin syndrome was noted in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487609" 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">rs2136577259 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136577259;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=rs2136577259" 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=rs2136577259" 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=RCV000018917 OR RCV002513113" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018917, RCV002513113" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018917...</a>
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<p>In the original Minnesota kindred on the basis of which <a href="#89" class="mim-tip-reference" title="Stickler, G. B., Belau, P. G., Farrell, F. J., Jones, J. D., Pugh, D. G., Steinberg, A. G., Ward, L. E. <strong>Hereditary progressive arthro-ophthalmopathy.</strong> Mayo Clin. Proc. 40: 433-455, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14299791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14299791</a>]" pmid="14299791">Stickler et al. (1965)</a> defined the Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), <a href="#120" class="mim-tip-reference" title="Williams, C. J., Ganguly, A., Considine, E., McCarron, S., Prockop, D. J., Walsh-Vockley, C., Michels, V. V. <strong>A(-2)-to-G transition at the 3-prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.</strong> Am. J. Med. Genet. 63: 461-467, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737653</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737653">Williams et al. (1996)</a> identified a splice site mutation in the COL2A1 gene. They used conformational sensitive gel electrophoresis (SSGE) to screen for mutations in the entire gene. They noted a prominent heteroduplex in the PCR product from a region of the gene including exons 17 to 20. Direct sequencing of PCR-amplified genomic DNA identified an A-to-G transition at the -2 position at the 3-prime acceptor splice site of IVS17. Sequencing of DNA from affected and unaffected family members confirmed that the mutation segregated with the disease phenotype. RT-PCR analysis of poly(A)+ RNA demonstrated that the mutant allele utilized a cryptic splice site in exon 18 of the gene, eliminating 16 bp at the start of exon 18. This frameshift eventually resulted in a premature termination codon. <a href="#120" class="mim-tip-reference" title="Williams, C. J., Ganguly, A., Considine, E., McCarron, S., Prockop, D. J., Walsh-Vockley, C., Michels, V. V. <strong>A(-2)-to-G transition at the 3-prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.</strong> Am. J. Med. Genet. 63: 461-467, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737653</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8737653">Williams et al. (1996)</a> stated that this was the first report of a splice site mutation in classical Stickler syndrome. They provided a satisfying historical context in which to view COL2A1 mutations in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8737653+14299791" 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">rs587776847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776847;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=rs587776847" 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=rs587776847" 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=RCV000018918" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018918" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018918</a>
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<p><a href="#88" class="mim-tip-reference" title="Spranger, J., Winterpacht, A., Zabel, B. <strong>Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.</strong> Am. J. Med. Genet. 69: 79-84, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066888</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066888">Spranger et al. (1997)</a> demonstrated that the original patient reported by <a href="#46" class="mim-tip-reference" title="Kniest, W. <strong>Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie.</strong> Z. Kinderheilkd. 70: 633-640, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12995812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12995812</a>]" pmid="12995812">Kniest (1952)</a> had a single base (G) deletion involving the GT dinucleotide of the start of intron 18 of the COL2A1 gene. From a review of the molecular defect found in other cases of this disorder, <a href="#88" class="mim-tip-reference" title="Spranger, J., Winterpacht, A., Zabel, B. <strong>Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.</strong> Am. J. Med. Genet. 69: 79-84, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066888</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066888">Spranger et al. (1997)</a> concluded that the condition is caused by small in-frame deletions often due to exon skipping as a result of COL2A1 splice site mutations. <a href="#88" class="mim-tip-reference" title="Spranger, J., Winterpacht, A., Zabel, B. <strong>Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.</strong> Am. J. Med. Genet. 69: 79-84, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066888</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066888">Spranger et al. (1997)</a> provided a useful follow-up on the original patient, then 50 years of age. She was severely handicapped with short stature, restricted joint mobility, and blindness, but was mentally alert and led an active life. Radiologic findings at the age of 4.5 years and 29 years were presented. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9066888+12995812" 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> rs1408154129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1408154129;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/rs1408154129?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=rs1408154129" 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=rs1408154129" 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=RCV000018919 OR RCV005089277" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018919, RCV005089277" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018919...</a>
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<p>In a neonatal lethal form of Kniest dysplasia (<a href="/entry/156500">156500</a>), <a href="#114" class="mim-tip-reference" title="Weis, M. A., Wilkin, D. J., Kim, H. J., Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Cohn, D. H., Eyre, D. R. <strong>Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.</strong> J. Biol. Chem. 273: 4761-4768, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9468540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9468540</a>] [<a href="https://doi.org/10.1074/jbc.273.8.4761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9468540">Weis et al. (1998)</a> found deletion of 18 residues corresponding to exon 24 of the COL2A1 sequence. Sequence analysis of an amplified genomic DNA fragment identified a G-to-A transition in the +5 position of the splice donor consensus sequence of intron 24 in 1 allele. Cartilage matrix analysis showed that the abnormally short alpha-1(II) chain was present in collagen molecules that had become cross-linked into fibrils. It appeared that the normal and the short alpha-chains had combined to form heterotrimeric molecules in which the chains were in register in both directions from the deletion site, accommodated effectively by a loop out of the normal chain exon 24 domain. Such an accommodation, with potential overall shortening of the helical domain and hence misalignment of intermolecular relationships within fibrils, offers a common molecular mechanism by which a group of different mutations might act to produce the Kniest phenotype. The patient, an infant girl, was the product of a 37-week gestation and died of respiratory distress at 10 days of age. She had short limbs, clubfeet, cleft palate, midface hypoplasia, and narrow chest. X-rays showed flattened vertebral bodies with coronal clefts, slight shortening of the ribs, and dumbbell-shaped femurs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9468540" 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>.0027 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</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> rs121912880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912880;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/rs121912880?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=rs121912880" 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=rs121912880" 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=RCV000380315 OR RCV002509164" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000380315, RCV002509164" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000380315...</a>
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<p>See <a href="#0017">120140.0017</a>. In 2 unrelated patients with SEMD Strudwick (<a href="/entry/184250">184250</a>), <a href="#103" class="mim-tip-reference" title="Tiller, G. E., Polumbo, P. A., Weis, M. A., Bogaert, R., Lachman, R. S., Cohn, D. H., Rimoin, D. L., Eyre, D. R. <strong>Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.</strong> Nature Genet. 11: 87-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550321</a>] [<a href="https://doi.org/10.1038/ng0995-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550321">Tiller et al. (1995)</a> found a gly304-to-cys mutation and a gly292-to-val mutation in the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550321" 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>.0028 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</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">rs121912881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912881;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=rs121912881" 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=rs121912881" 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=RCV002509165" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002509165" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002509165</a>
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<p>See <a href="#0027">120140.0027</a> and <a href="#103" class="mim-tip-reference" title="Tiller, G. E., Polumbo, P. A., Weis, M. A., Bogaert, R., Lachman, R. S., Cohn, D. H., Rimoin, D. L., Eyre, D. R. <strong>Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.</strong> Nature Genet. 11: 87-89, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550321</a>] [<a href="https://doi.org/10.1038/ng0995-87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550321">Tiller et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550321" 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>.0029 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (1 family)</strong>
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COL2A1, ARG704CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912882 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912882;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=rs121912882" 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=rs121912882" 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=RCV000018922 OR RCV000414959 OR RCV000513905 OR RCV004595885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018922, RCV000414959, RCV000513905, RCV004595885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018922...</a>
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<p>In an Afrikaner South African family with multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMCD; <a href="/entry/132450">132450</a>), <a href="#8" class="mim-tip-reference" title="Ballo, R., Beighton, P. H., Ramesar, R. S. <strong>Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.</strong> Am. J. Med. Genet. 80: 6-11, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800905</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9800905">Ballo et al. (1998)</a> detected a heterozygous C-to-T transversion at nucleotide 2503 in exon 39 of the COL2A1 gene. This resulted in an arg-to-cys substitution at residue number 704, occurring at the X position of the Gly-X-Y motif of the collagen triple helix. Myopia and deafness characteristic of Stickler syndrome (<a href="/entry/108300">108300</a>) were present, with radiologic findings consistent with multiple epiphyseal dysplasia (MED). COL2A1 mutations causing Stickler syndrome have resulted in premature termination codons, while mutations causing spondyloepiphyseal dysplasia were glycine alterations or arg-to-cys substitutions at the Y position of the Gly-X-Y unit. <a href="#8" class="mim-tip-reference" title="Ballo, R., Beighton, P. H., Ramesar, R. S. <strong>Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.</strong> Am. J. Med. Genet. 80: 6-11, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800905</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9800905">Ballo et al. (1998)</a> stated that this mutation could represent the first report of a nontermination COL2A1 mutation in Stickler syndrome type 1, or the first report of a COL2A1 defect in an MED phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9800905" 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>.0030 SPONDYLOPERIPHERAL DYSPLASIA</strong>
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COL2A1, 5-BP DUP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2136504869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136504869;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=rs2136504869" 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=rs2136504869" 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=RCV000018923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018923</a>
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<p><a href="#128" class="mim-tip-reference" title="Zabel, B., Hilbert, K., Stoss, H., Superti-Furga, A., Spranger, J., Winterpacht, A. <strong>A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.</strong> Am. J. Med. Genet. 63: 123-128, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723097</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723097">Zabel et al. (1996)</a> described a 5-bp duplication in exon 51 of the COL2A1 gene, leading to a stop codon, in a patient with a distinct phenotype labeled spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>). The mutation was present in heterozygous state and the patient was sporadic (new mutation). The patient, a girl, was born to healthy, nonconsanguineous parents and was 45 cm at birth. A skeletal dysplasia was suspected because of rhizomelic shortening of the arms and legs. X-ray findings at 7 months of age suggested SED congenita. At the age of 14 years the patient was 127.4 cm tall with short, broad fingers and very short toes II-V. Additional findings were a slightly hypoplastic midface with depressed nasal bridge, severe myopia, short neck and trunk, accentuated lumbar lordosis, and limited extension of the elbow joints. Short metacarpals were impressive in the hand x-rays, and very short toes II-V were impressive in the photograph of the feet. The 5-bp duplication was the first to be located at the C-terminal outside the helical domain of COL2A1. It seemed to affect helix formation and produced changes of chondrocyte morphology, collagen type II fibril structure, and cartilage matrix composition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723097" 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>.0031 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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">rs121912883 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912883;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=rs121912883" 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=rs121912883" 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=RCV000018924" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018924" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018924</a>
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<p><a href="#85" class="mim-tip-reference" title="Sobetzko, D., Eich, G., Kalff-Suske, M., Grzeschik, K.-H., Superti-Furga, A. <strong>Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.</strong> Am. J. Med. Genet. 90: 239-242, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678662</a>]" pmid="10678662">Sobetzko et al. (2000)</a> described a newborn infant with an unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia. A history of digital anomalies in the father and grandfather led to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS; <a href="/entry/175700">175700</a>). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital SED (SEDC; <a href="/entry/183900">183900</a>). Molecular analysis confirmed the presence of 2 dominant mutations in the infant: a GLI3 mutation (E543X; <a href="/entry/165240#0010">165240.0010</a>), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to an gly973-to-arg amino acid substitution. Thus, this boy combined the Greig syndrome with a severe form of SED. The diagnostic difficulties posed by the combination of 2 genetic disorders and the usefulness of molecular diagnostics were well illustrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678662" 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">rs1057524696 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057524696;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=rs1057524696" 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=rs1057524696" 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=RCV000018925 OR RCV001851925" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018925, RCV001851925" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018925...</a>
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<p><a href="#27" class="mim-tip-reference" title="Freddi, S., Savarirayan, R., Bateman, J. F. <strong>Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.</strong> Am. J. Med. Genet. 90: 398-406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706362</a>]" pmid="10706362">Freddi et al. (2000)</a> described a novel strategy for screening families with type I Stickler syndrome (STL1; <a href="/entry/108300">108300</a>) due to nonsense mutations in the COL2A1 gene, using a modified RNA-based protein truncation test. To overcome the problem of the unavailability of collagen II-producing cartilage cells, they performed RT-PCR on the illegitimate transcripts of accessible cells (lymphoblasts and fibroblasts), which were preincubated with cycloheximide to prevent nonsense mutation-induced mRNA decay. The 5 overlapping RT-PCR fragments covering the COL2A1 coding region were then transcribed and translated in vitro to identify smaller truncated protein products resulting from a premature stop codon. Using this method, <a href="#27" class="mim-tip-reference" title="Freddi, S., Savarirayan, R., Bateman, J. F. <strong>Molecular diagnosis of Stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.</strong> Am. J. Med. Genet. 90: 398-406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706362</a>]" pmid="10706362">Freddi et al. (2000)</a> screened a 4-generation family with Stickler syndrome and identified a protein-truncating mutation that was present in all affected individuals. Targeted sequencing identified the mutation as a G-to-A transition at the +1 position of the 5-prime splice donor site of intron 25. The mutation led to the activation of a cryptic splice site 8 bp upstream, causing aberrant mRNA splicing and a translational frameshift that introduced a premature stop codon. Mutant mRNA was undetectable without cycloheximide protection, demonstrating that the mutant mRNA was subjected to nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706362" 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>.0033 STICKLER SYNDROME, TYPE I</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">rs121912884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912884;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=rs121912884" 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=rs121912884" 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=RCV000018926 OR RCV000413561 OR RCV001074673 OR RCV001197973 OR RCV001807733 OR RCV004528123" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018926, RCV000413561, RCV001074673, RCV001197973, RCV001807733, RCV004528123" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018926...</a>
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<p><a href="#75" class="mim-tip-reference" title="Richards, A. J., Baguley, D. M., Yates, J. R. W., Lane, C., Nicol, M., Harper, P. S., Scott, J. D., Snead, M. P. <strong>Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen gly-X-Y triple helix.</strong> Am. J. Hum. Genet. 67: 1083-1094, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007540</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007540[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62938-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007540">Richards et al. (2000)</a> observed a recurrent arg365-to-cys (R365C) mutation of the COL2A1 gene in 2 unrelated sporadic cases of Stickler syndrome (STL1; <a href="/entry/108300">108300</a>). The mutation was located in the X position of the Gly-X-Y triple helical region and resulted in the membranous vitreous anomaly associated with haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11007540" 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>.0034 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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> rs121912885 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912885;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/rs121912885?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=rs121912885" 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=rs121912885" 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=RCV000018927 OR RCV000144727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018927, RCV000144727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018927...</a>
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<p><a href="#75" class="mim-tip-reference" title="Richards, A. J., Baguley, D. M., Yates, J. R. W., Lane, C., Nicol, M., Harper, P. S., Scott, J. D., Snead, M. P. <strong>Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen gly-X-Y triple helix.</strong> Am. J. Hum. Genet. 67: 1083-1094, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007540</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007540[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62938-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007540">Richards et al. (2000)</a> observed a leu467-to-phe (L467F) mutation of the COL2A1 gene in a family with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>) which produced an unusual 'afibrillar' vitreous gel devoid of all normal lamellar structure. Systemic involvement was mild, with many family members lacking joint laxity or radiologic abnormality, hearing loss, midface hypoplasia, abnormal nasal development, and midline clefting. <a href="#77" class="mim-tip-reference" title="Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P. <strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>] [<a href="https://doi.org/10.1167/iovs.04-1017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671297">Richards et al. (2005)</a> referred to the phenotype in this family as an atypical form of Stickler syndrome/dominant rhegmatogenous retinal detachment (<a href="/entry/609508">609508</a>). They noted that the amino acid substitution arose from a 20996C-T transition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11007540+15671297" 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> rs121912886 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912886;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/rs121912886?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=rs121912886" 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=rs121912886" 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=RCV000018928 OR RCV000190574 OR RCV001299254 OR RCV004734525" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018928, RCV000190574, RCV001299254, RCV004734525" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018928...</a>
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<p><a href="#106" class="mim-tip-reference" title="Unger, S., Korkko, J., Krakow, D., Lachman, R. S., Rimoin, D. L., Cohn, D. H. <strong>Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.</strong> Am. J. Med. Genet. 104: 140-146, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746045</a>] [<a href="https://doi.org/10.1002/ajmg.10062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11746045">Unger et al. (2001)</a> reported a child with double heterozygosity for pseudoachondroplasia (<a href="/entry/177170">177170</a>), resulting from a mutation in the COMP gene (<a href="/entry/600310#0014">600310.0014</a>) and spondyloepiphyseal dysplasia congenita (SEDC; <a href="/entry/183900">183900</a>), resulting from a thr1370-to-met mutation in the COL2A1 gene. The child inherited pseudoachondroplasia from his mother and spondyloepiphyseal dysplasia congenita from his father. He had clinical and radiographic findings that were more severe than those in either disorder alone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746045" 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>.0036 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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">rs2136637244 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136637244;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=rs2136637244" 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=rs2136637244" 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=RCV000018929 OR RCV003556044" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018929, RCV003556044" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018929...</a>
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<p><a href="#32" class="mim-tip-reference" title="Gupta, S. K., Leonard, B. C., Damji, K. F., Bulman, D. E. <strong>A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.</strong> Am. J. Ophthal. 133: 203-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812423</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01339-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812423">Gupta et al. (2002)</a> examined a large French Canadian kindred originally described by <a href="#6" class="mim-tip-reference" title="Alexander, R. L., Shea, M. <strong>Wagner's disease.</strong> Arch. Ophthal. 74: 310-318, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14338642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14338642</a>] [<a href="https://doi.org/10.1001/archopht.1965.00970040312005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14338642">Alexander and Shea (1965)</a> as representing Wagner disease (<a href="/entry/143200">143200</a>). In affected individuals, they found a novel frameshift mutation (4274del2bp) in exon 2 leading to early truncation of the COL2A1 protein (cys57 to stop; C57X). The mutation arose in an exon that is selectively present in vitreous collagen mRNAs, but absent in cartilage mRNAs through tissue-specific alternate splicing. The authors concluded that the selective absence of exon 2 in cartilage explained why this family did not manifest the progressive spondyloarthropathy of Stickler syndrome (<a href="/entry/108300">108300</a>) that is a more common result of mutations in COL2A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11812423+14338642" 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="#76" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> suggested that the disorder in this family was more likely to be a predominantly ocular form of Stickler syndrome type I (see <a href="/entry/609508">609508</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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> rs121912887 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912887;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/rs121912887?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=rs121912887" 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=rs121912887" 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=RCV000018930 OR RCV005089278" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018930, RCV005089278" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018930...</a>
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<p><a href="#78" class="mim-tip-reference" title="Richards, A. J., Morgan, J., Bearcroft, P. W. P., Pickering, E., Owen, M. J., Holmans, P., Williams, N., Tysoe, C., Pope, F. M., Snead, M. P., Hughes, H. <strong>Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.</strong> J. Med. Genet. 39: 661-665, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205109</a>] [<a href="https://doi.org/10.1136/jmg.39.9.661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12205109">Richards et al. (2002)</a> described a large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and phalangeal epiphyseal dysplasia resulting in brachydactyly (VPED; <a href="/entry/619248">619248</a>). Linkage to the COL2A1 gene was demonstrated, and mutation analysis identified a change at codon 1105 in exon 52 from GGC (gly) to GAC (asp) (G1105D) in the C-propeptide region of the molecule. The gly-to-asp change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype did not fit easily with preexisting subgroups of the type II collagenopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12205109" 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">rs121912888 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912888;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=rs121912888" 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=rs121912888" 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=RCV000022481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022481</a>
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<p>In 2 successive pregnancies of a healthy, nonconsanguineous young couple, <a href="#23" class="mim-tip-reference" title="Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G. <strong>Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.</strong> Am. J. Med. Genet. 126A: 308-312, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054848</a>] [<a href="https://doi.org/10.1002/ajmg.a.20597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054848">Faivre et al. (2004)</a> observed lethal achondrogenesis type II (ACG2; <a href="/entry/200610">200610</a>). Heterozygosity for a 1340G-A transition in exon 22 of the COL2A1 gene resulting in a gly316-to-asp (G316D) amino acid substitution was identified in the second fetus. The mutation was not found in the parents. <a href="#23" class="mim-tip-reference" title="Faivre, L., Le Merrer, M., Douvier, S., Laurent, N., Thauvin-Robinet, C., Rousseau, T., Vereecke, I., Sagot, P., Delezoide, A.-L., Coucke, P., Mortier, G. <strong>Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.</strong> Am. J. Med. Genet. 126A: 308-312, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054848</a>] [<a href="https://doi.org/10.1002/ajmg.a.20597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054848">Faivre et al. (2004)</a> hypothesized germline mosaicism in 1 of the parents as the explanation for the recurrence of this autosomal dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054848" 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>.0039 PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE</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">rs121912889 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912889;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=rs121912889" 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=rs121912889" 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=RCV000018931 OR RCV000022482 OR RCV001377068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018931, RCV000022482, RCV001377068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018931...</a>
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<p>In a sporadic case of the Torrance type of platyspondylic skeletal dysplasia (<a href="/entry/151210">151210</a>) delivered stillborn at 34 weeks' gestation, <a href="#71" class="mim-tip-reference" title="Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S. <strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong> J. Med. Genet. 41: 75-79, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>] [<a href="https://doi.org/10.1136/jmg.2003.013722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14729840">Nishimura et al. (2004)</a> identified a de novo heterozygous 4172A-G transition in exon 53 of the COL2A1 gene, resulting in a tyr1391-to-cys (Y1391C) mutation affecting the C-propeptide region of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14729840" 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="#37" class="mim-tip-reference" title="Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R. <strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong> Europ. J. Hum. Genet. 15: 1269-1275, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726487">Hoornaert et al. (2007)</a> identified a heterozygous 4172A-G transition of the COL2A1 gene in a girl originally diagnosed with Czech dysplasia (case III of <a href="#51" class="mim-tip-reference" title="Kozlowski, K., Marik, I., Marikova, O., Zemkova, D., Kuklik, M. <strong>Czech dysplasia metatarsal type.</strong> Am. J. Med. Genet. 129A: 87-91, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266623</a>] [<a href="https://doi.org/10.1002/ajmg.a.30132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266623">Kozlowski et al., 2004</a>). The patient had significant disproportionate short stature (-4.55 standard deviation at age 14) and short toes. <a href="#37" class="mim-tip-reference" title="Hoornaert, K. P., Marik, I., Kozlowski, K., Cole, T., Le Merrer, M., Leroy, J. G., Coucke, P. J., Sillence, D., Mortier, G. R. <strong>Czech dysplasia metatarsal type: another type II collagen disorder.</strong> Europ. J. Hum. Genet. 15: 1269-1275, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17726487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17726487</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17726487">Hoornaert et al. (2007)</a> suggested that this patient has spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17726487+15266623" 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">rs1592192920 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1592192920;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=rs1592192920" 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=rs1592192920" 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=RCV000018932" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018932" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018932</a>
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<p>In a sporadic case of the Torrance type of platyspondylic skeletal dysplasia (<a href="/entry/151210">151210</a>), <a href="#71" class="mim-tip-reference" title="Nishimura, G., Nakashima, E., Mabuchi, A., Shimamoto, K., Shimamoto, T., Shimao, Y., Nagai, T., Yamaguchi, T., Kosaki, R., Ohashi, H., Makita, Y., Ikegawa, S. <strong>Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.</strong> J. Med. Genet. 41: 75-79, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14729840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14729840</a>] [<a href="https://doi.org/10.1136/jmg.2003.013722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14729840">Nishimura et al. (2004)</a> identified a de novo 4-bp deletion in exon 54 of the COL2A1 gene, 4413delAGGG, resulting in a frameshift with a premature stop at codon 1480. The phenotype, as indicated by radiologic manifestations during the neonatal period, evolved into that of Kniest-like dysplasia (see <a href="/entry/156550">156550</a>) in childhood; the patient, 5 years of age at the time of report, survived respiratory problems in infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14729840" 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>.0041 SPONDYLOPERIPHERAL DYSPLASIA</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">rs1565664375 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565664375;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=rs1565664375" 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=rs1565664375" 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=RCV000018933 OR RCV003338384" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018933, RCV003338384" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018933...</a>
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<p>In 2 patients with spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>), <a href="#129" class="mim-tip-reference" title="Zankl, A., Zabel, B., Hilbert, K., Wildhardt, G., Cuenot, S., Xavier, B., Ha-Vinh, R., Bonafe, L., Spranger, J., Superti-Furga, A. <strong>Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.</strong> Am. J. Med. Genet. 129A: 144-148, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316962</a>] [<a href="https://doi.org/10.1002/ajmg.a.30222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316962">Zankl et al. (2004)</a> identified mutations in the COL2A1 gene. The first patient had a heterozygous 1-bp deletion at nucleotide 4337 in exon 52, resulting in a frameshift at codon 1446 and a premature stop codon 25 amino acids downstream. The second patient had a truncating mutation in exon 51 (see <a href="#0042">120140.0042</a>). Neither mutation was present in the patients' parents or in 100 control chromosomes. Both patients had clubfeet, midface hypoplasia, early-onset high grade myopia, platyspondyly, epiphyseal dysplasia, and brachydactyly E-like changes developing in childhood. The authors noted that the phenotype was remarkably similar to that described by <a href="#128" class="mim-tip-reference" title="Zabel, B., Hilbert, K., Stoss, H., Superti-Furga, A., Spranger, J., Winterpacht, A. <strong>A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.</strong> Am. J. Med. Genet. 63: 123-128, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723097</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723097">Zabel et al. (1996)</a> (see <a href="#0030">120140.0030</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8723097+15316962" 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>.0042 SPONDYLOPERIPHERAL DYSPLASIA</strong>
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COL2A1, CYS1438TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912890 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912890;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=rs121912890" 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=rs121912890" 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=RCV000018934" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018934" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018934</a>
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<p>In a patient with spondyloperipheral dysplasia (<a href="/entry/271700">271700</a>), <a href="#129" class="mim-tip-reference" title="Zankl, A., Zabel, B., Hilbert, K., Wildhardt, G., Cuenot, S., Xavier, B., Ha-Vinh, R., Bonafe, L., Spranger, J., Superti-Furga, A. <strong>Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.</strong> Am. J. Med. Genet. 129A: 144-148, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316962</a>] [<a href="https://doi.org/10.1002/ajmg.a.30222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316962">Zankl et al. (2004)</a> identified a heterozygous 4314C-A transversion in exon 51 of the COL2A1 gene, resulting in a cys1438-to-ter (C1438X) substitution. See <a href="#0041">120140.0041</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316962" 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="0043" class="mim-anchor"></a>
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<strong>.0043 AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1</strong>
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LEGG-CALVE-PERTHES DISEASE, INCLUDED
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COL2A1, GLY1170SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912891;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=rs121912891" 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=rs121912891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018935 OR RCV000018936 OR RCV001382419 OR RCV005007871" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018935, RCV000018936, RCV001382419, RCV005007871" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018935...</a>
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<p>In 2 families with autosomal dominant avascular necrosis of the femoral head (ANFH1; <a href="/entry/608805">608805</a>), <a href="#58" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> identified a G-to-A transition in exon 50 of the COL2A1 gene, predicted to lead to the replacement of glycine with serine at codon 1170 (G1170S) in a Gly-X-Y repeat of type II collagen. The mutant allele occurred on a different haplotype background in each of the 2 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930420" 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="#66" class="mim-tip-reference" title="Miyamoto, Y., Matsuda, T., Kitoh, H., Haga, N., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.</strong> Hum. Genet. 121: 625-629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394019</a>] [<a href="https://doi.org/10.1007/s00439-007-0354-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17394019">Miyamoto et al. (2007)</a> identified the same heterozygous 3508G-A mutation in affected members of a Japanese family with an autosomal dominant disorder manifesting as Legg-Calve-Perthes disease (LCPD; <a href="/entry/150600">150600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394019" 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>.0044 AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1</strong>
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COL2A1, GLY717SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906558 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906558;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=rs387906558" 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=rs387906558" 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=RCV000018937" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018937" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018937</a>
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<p>In a family with autosomal dominant avascular necrosis of the femoral head (ANFH1; <a href="/entry/608805">608805</a>), <a href="#58" class="mim-tip-reference" title="Liu, Y.-F., Chen, W.-M., Lin, Y.-F., Yang, R.-C., Lin, M.-W., Li, L.-H., Chang, Y.-H., Jou, Y.-S., Lin, P.-Y., Su, J.-S., Huang, S.-F., Hsaio, K.-J., Fann, C. S. J., Hwang, H.-W., Chen, Y.-T., Tsai, S.-F. <strong>Type II collagen variants and inherited osteonecrosis of the femoral head.</strong> New Eng. J. Med. 352: 2294-2301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930420</a>] [<a href="https://doi.org/10.1056/NEJMoa042480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930420">Liu et al. (2005)</a> identified a G-to-A transition in exon 33 of the COL2A1 gene, causing a glycine-to-serine change at codon 717 (G717S). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930420" 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="0045" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0045 STICKLER SYNDROME, TYPE I</strong>
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RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
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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> rs121912893 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912893;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/rs121912893?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=rs121912893" 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=rs121912893" 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=RCV000018938 OR RCV000018939 OR RCV000481275 OR RCV000762896 OR RCV004689424 OR RCV004975261" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018938, RCV000018939, RCV000481275, RCV000762896, RCV004689424, RCV004975261" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018938...</a>
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<p>In a patient with sporadic Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), <a href="#118" class="mim-tip-reference" title="Wilkin, D. J., Liberfarb, R., Davis, J., Levy, H. P., Cole, W. G., Francomano, C. A., Cohn, D. H. <strong>Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.</strong> Am. J. Med. Genet. 94: 141-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982970</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982970">Wilkin et al. (2000)</a> identified a C-to-T transition in the COL2A1 gene, resulting in an arg453-to-ter (R453X) substitution. The patient had cleft palate, sensorineural hearing loss, joint laxity, high myopia, vitreoretinal degeneration, and retinal breaks and detachments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10982970" 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 no systemic characteristics of Stickler syndrome but dominantly inherited rhegmatogenous retinal detachment or retinal tears (<a href="/entry/609508">609508</a>), <a href="#30" class="mim-tip-reference" title="Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B. <strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong> Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939326</a>] [<a href="https://doi.org/10.1167/iovs.02-0736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12939326">Go et al. (2003)</a> identified the R453X mutation, which they noted was in exon 30 (<a href="#118" class="mim-tip-reference" title="Wilkin, D. J., Liberfarb, R., Davis, J., Levy, H. P., Cole, W. G., Francomano, C. A., Cohn, D. H. <strong>Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.</strong> Am. J. Med. Genet. 94: 141-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982970</a>] [<a href="https://doi.org/10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982970">Wilkin et al. (2000)</a> had placed the mutation in exon 28). They noted that previously reported predominantly ocular Stickler syndrome cases had been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10982970+12939326" 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>.0046 RHEGMATOGENOUS RETINAL DETACHMENT, 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">rs121912894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912894;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=rs121912894" 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=rs121912894" 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=RCV000018940 OR RCV001851926" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018940, RCV001851926" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018940...</a>
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<p>In affected members of a family with dominantly inherited rhegmatogenous retinal detachment (<a href="/entry/609508">609508</a>) and no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome (<a href="/entry/108300">108300</a>), <a href="#77" class="mim-tip-reference" title="Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P. <strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>] [<a href="https://doi.org/10.1167/iovs.04-1017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671297">Richards et al. (2005)</a> identified a 10838G-A transition in exon 15 of the COL2A1 gene, resulting in a gly118-to-arg (G118R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671297" 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>.0047 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
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COL2A1, ARG792GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912895 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912895;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=rs121912895" 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=rs121912895" 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=RCV001851927 OR RCV002509166" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001851927, RCV002509166" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001851927...</a>
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<p>In monozygotic twin girls with SEMD Strudwick (<a href="/entry/184250">184250</a>), <a href="#94" class="mim-tip-reference" title="Sulko, J., Czarny-Ratajczak, M., Wozniak, A., Latos-Bielenska, A., Kozlowski, K. <strong>Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.</strong> Am. J. Med. Genet. 137A: 292-297, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088915</a>] [<a href="https://doi.org/10.1002/ajmg.a.30881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088915">Sulko et al. (2005)</a> identified heterozygosity for a 79A-G transition in exon 41 of the COL2A1 gene, resulting in an arg792-to-gly (R792G) substitution. The mutation was not detected in the unaffected parents or in 90 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088915" 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>.0048 STICKLER SYNDROME, TYPE I</strong>
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COL2A1, IVS10AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1592232116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1592232116;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=rs1592232116" 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=rs1592232116" 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=RCV000018942" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018942" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018942</a>
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<p>In a 22-year-old Japanese female with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>), who had a clinical diagnosis of otospondylomegaepiphyseal dysplasia (see <a href="/entry/215150">215150</a>), <a href="#67" class="mim-tip-reference" title="Miyamoto, Y., Nakashima, E., Hiraoka, H., Ohashi, H., Ikegawa, S. <strong>A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.</strong> Hum. Genet. 118: 175-178, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16189708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16189708</a>] [<a href="https://doi.org/10.1007/s00439-005-0058-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16189708">Miyamoto et al. (2005)</a> identified a splice acceptor site mutation within intron 10 (709-2A-G) of the COL2A1 gene. The mutation was predicted to cause skipping of exon 11, which was presumed to cause an in-frame deletion of the triple helical region of the COL2A1 product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16189708" 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>.0049 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</strong>
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COL2A1, IVS51DS, T-C, +2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1592196064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1592196064;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=rs1592196064" 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=rs1592196064" 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=RCV000018943" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018943" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018943</a>
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<p>In a family with the predominantly ocular form of type I Stickler syndrome (<a href="/entry/609508">609508</a>), <a href="#76" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> found that the donor splice site of intron 51 showed a change from GT to GC. Using splicing reporter constructs, they demonstrated that normal transcripts could be produced from this mutant allele. Some GC donor splice sites exist naturally in the human genome (<a href="#102" class="mim-tip-reference" title="Thanaraj, T. A., Clark, F. <strong>Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions.</strong> Nucleic Acids Res. 29: 2581-2593, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11410667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11410667</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11410667[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/10.1093/nar/29.12.2581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11410667">Thanaraj and Clark, 2001</a>). Whether there is a difference in the efficiency of normal splicing from the mutant GC allele between cartilage and ocular tissue was unknown. However, <a href="#76" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> observed that not all cells transfected with the mutant minigene were capable of normal processing of the mutant mRNA, so tissue-specific missplicing may be one explanation for the predominantly ocular phenotype in this family. An alternative explanation is that vitreous development (which is rapid, with the secondary vitreous complete by 12 weeks' gestation) is more susceptible to a reduction in the level of type II collagen than is cartilage development, in which the extracellular matrix has longer to develop. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752401+11410667" 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">rs121912896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912896;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=rs121912896" 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=rs121912896" 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=RCV000018944" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018944" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018944</a>
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<p>In a family with the predominantly ocular form of Stickler syndrome type I (<a href="/entry/609508">609508</a>), <a href="#76" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> found a nonsense mutation, trp47 to ter (W47X), resulting from a 141G-A transition in exon 2 of the COL2A1 gene. They observed 2 other examples of predominantly ocular Stickler syndrome due to mutations in the alternatively spliced exon 2. One other mutation causing this phenotype was located at the donor splice site of IVS51 (<a href="#0049">120140.0049</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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> rs121912897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912897;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/rs121912897?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=rs121912897" 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=rs121912897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated patients with nonsyndromic ocular Stickler syndrome (<a href="/entry/609508">609508</a>), <a href="#64" class="mim-tip-reference" title="McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M. <strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong> Hum. Mutat. 29: 83-90, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>] [<a href="https://doi.org/10.1002/humu.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721977">McAlinden et al. (2008)</a> identified a heterozygous 192C-A transversion in exon 2 of the COL2A1 gene, resulting in a cys64-to-ter (C64X) substitution. In vitro studies using a minigene construct indicated that the C64X, C57Y (<a href="#0052">120140.0052</a>), and W47X (<a href="#0050">120140.0050</a>) mutations resulted in a splicing pattern change and a decreased ratio of IIA:IIB mRNA. The findings suggested that the mutations were present in functional cis regulatory elements in exon 2 that are important in regulating the mechanism of alternative splicing of this exon. <a href="#64" class="mim-tip-reference" title="McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M. <strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong> Hum. Mutat. 29: 83-90, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>] [<a href="https://doi.org/10.1002/humu.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721977">McAlinden et al. (2008)</a> postulated that the mutations did not result in nonsense-mediated decay and haploinsufficiency, but rather an altered mRNA splice ratio with effects limited to the eye. Absence of an extraocular phenotype in Stickler syndrome patients with mutations in exon 2 of COL2A1 may be due to sufficient production of isoform IIB by nonsense-mediated altered splicing. Since isoform IIA is expressed in adult ocular vitreous, the ocular phenotype may be due to inadequate amounts of isoform IIA in the mature eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721977" 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">rs121912898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912898;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=rs121912898" 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=rs121912898" 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=RCV000018946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018946</a>
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<p>In a patient with nonsyndromic ocular Stickler syndrome (<a href="/entry/609508">609508</a>), <a href="#64" class="mim-tip-reference" title="McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M. <strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong> Hum. Mutat. 29: 83-90, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>] [<a href="https://doi.org/10.1002/humu.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721977">McAlinden et al. (2008)</a> identified a heterozygous 170G-A transition in exon 2 of the COL2A1 gene, resulting in a cys57-to-tyr (C57Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721977" 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">rs121912899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912899;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=rs121912899" 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=rs121912899" 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=RCV000022483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022483</a>
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<p>In 3 fetuses with lethal achondrogenesis type II (ACG2; <a href="/entry/200610">200610</a>), conceived of a healthy, nonconsanguineous young couple, <a href="#24" class="mim-tip-reference" title="Forzano, F., Lituania, M., Viassolo, V., Superti-Furga, A., Wildhardt, G., Zabel, B., Faravelli, F. <strong>A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.</strong> Am. J. Med. Genet. 143A: 2815-2820, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994563</a>] [<a href="https://doi.org/10.1002/ajmg.a.32047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994563">Forzano et al. (2007)</a> identified heterozygosity for a 1037G-T transversion in exon 3 of the COL2A1 gene resulting in a gly346-to-val (G346V) substitution. An earlier born fetus had also had achondrogenesis type II. The father's blood DNA harbored a low mutation signal consistent with mosaicism. Additional DNA analyses of the father's fibroblasts, hair roots, buccal smear, and urine revealed weak mosaicism in all tissues. <a href="#24" class="mim-tip-reference" title="Forzano, F., Lituania, M., Viassolo, V., Superti-Furga, A., Wildhardt, G., Zabel, B., Faravelli, F. <strong>A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.</strong> Am. J. Med. Genet. 143A: 2815-2820, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994563</a>] [<a href="https://doi.org/10.1002/ajmg.a.32047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17994563">Forzano et al. (2007)</a> stated that this was the first case of proven somatic mosaicism for a COL2A1 mutation that led to a lethal skeletal dysplasia in 4 offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994563" 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> rs138498898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138498898;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/rs138498898?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=rs138498898" 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=rs138498898" 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=RCV000022484 OR RCV000523016 OR RCV004532397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022484, RCV000523016, RCV004532397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022484...</a>
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<p>In a 40-year-old man who was diagnosed with avascular necrosis of the femoral head (ANFH1; <a href="/entry/608805">608805</a>) at 18 years of age, <a href="#44" class="mim-tip-reference" title="Kannu, P., O'Rielly, D. D., Hyland, J. C., Ala Kokko, L. <strong>Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.</strong> Am. J. Med. Genet. 155A: 1759-1762, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21671384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21671384</a>] [<a href="https://doi.org/10.1002/ajmg.a.34056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21671384">Kannu et al. (2011)</a> identified heterozygosity for a 4148C-T transition in exon 51 of the COL2A1 gene, resulting in a thr1383-to-met (T1383M) substitution within the highly conserved C-propeptide region. The mutation was not found in unaffected family members or 150 age-, sex-, and ethnicity-matched controls. The patient had a normal skeletal survey, other than bilateral hip degeneration; he had no facial dysmorphism, and ophthalmologic and audiologic examinations were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671384" 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>.0055 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE</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">rs869312907 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312907;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=rs869312907" 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=rs869312907" 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=RCV000210454 OR RCV001385339" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210454, RCV001385339" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210454...</a>
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<p>In a mother and daughter and an unrelated Korean boy with the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; <a href="/entry/616583">616583</a>), <a href="#42" class="mim-tip-reference" title="Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M.-W., Park, S. S., Kim, O. H., Cho, T.-J., Pauli, R. M. <strong>Novel COL2A1 variant (c.619G-A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.</strong> Hum. Mutat. 36: 1004-1008, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26183434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26183434</a>] [<a href="https://doi.org/10.1002/humu.22839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26183434">Jurgens et al. (2015)</a> identified heterozygosity for a c.619G-A transition (c.619G-A, NM_001844.4) in the COL2A1 gene, resulting in a gly207-to-arg (G207R) substitution at a conserved residue. The mutation was not present in the unaffected maternal grandmother from the first family; DNA from the maternal grandfather was unavailable. In the Korean family, the mutation was not present in either of the unaffected parents, indicating de novo occurrence in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26183434" 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>.0056 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE</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> rs760093841 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760093841;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/rs760093841?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=rs760093841" 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=rs760093841" 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=RCV000515452 OR RCV001269915" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515452, RCV001269915" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515452...</a>
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<p>In 6 affected members of a 3-generation family with the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; <a href="/entry/616583">616583</a>), <a href="#33" class="mim-tip-reference" title="Hammarsjo, A., Nordgren, A., Lagerstedt-Robinson, K., Malmgren, H., Nilsson, D., Wedren, S., Nordenskjold, M., Nishimura, G., Grigelioniene, G. <strong>Pathogenenic (sic) variant in the CL2A1 gene is associated with spondyloepiphyseal dysplasia type Stanescu.</strong> Am. J. Med. Genet. 170A: 266-269, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26420734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26420734</a>] [<a href="https://doi.org/10.1002/ajmg.a.37387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26420734">Hammarsjo et al. (2015)</a> identified heterozygosity for a c.3655G-C transversion (c.3655G-C, NM_001844.4) in exon 51 of the COL2A1 gene, resulting in an asp1219-to-his (D1219H) substitution at a highly conserved residue within the carboxy-propeptide of the alpha I (II) procollagen chain. The mutation segregated with disease in the family and was not found in 249 exomes from a local ethnically mixed population or in the ExAC, 1000 Genomes Project, dbSNP (build 137), ESP6500, or Leiden Open Variation databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26420734" 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><div class="mim-changed mim-change">.0057 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE</div></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV005052125" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV005052125" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV005052125</a>
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<div class="mim-changed mim-change"><p>In an 8-year-old Japanese boy with the Algerian type of spondylometaphyseal dysplasia (SMDALG; <a href="/entry/184253">184253</a>), <a href="#61" class="mim-tip-reference" title="Matsubayashi, S., Ikema, M., Ninomiya, Y., Yamaguchi, K., Ikegawa, S., Nishimura, G. <strong>COL2A1 mutation in spondylometaphyseal dysplasia Algerian type.</strong> Molec. Syndromol. 4: 148-151, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23653587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23653587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23653587[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/10.1159/000346644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23653587">Matsubayashi et al. (2013)</a> identified heterozygosity for a c.2582G-T transversion in exon 39 of the COL2A1 gene, predicted to result in a gly861-to-val (G861V) substitution within the triple-helical domain. The mutation was not found in 50 Japanese controls or in the HGMC or SNP databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23653587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong><div class="mim-changed mim-change">.0058 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE</div></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">rs794727684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794727684;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=rs794727684" 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=rs794727684" 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=RCV000178624 OR RCV005055085" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000178624, RCV005055085" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000178624...</a>
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<div class="mim-changed mim-change"><p>In a 5-year-old Venezuelan boy with the Algerian type of spondylometaphyseal dysplasia (SMDALG; <a href="/entry/184253">184253</a>), <a href="#14" class="mim-tip-reference" title="Cammarata-Scalisi, F., Matysiak, U., Willoughby, C. E., Ruzaike, G., Cardenas Tadich, A., Araya Castillo, M., Zara-Chirinos, C., Bracho, A., Avendano, A., Jilani, H., Callea, M. <strong>A severe case of spondylometaphyseal dysplasia Algerian type with two mutations in COL2A1.</strong> J. Pediat. Genet. 12: 339-341, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38162154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38162154</a>] [<a href="https://doi.org/10.1055/s-0041-1732474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38162154">Cammarata-Scalisi et al. (2023)</a> identified heterozygosity for a c.3275G-A transition in exon 47 of the COL2A1 gene, resulting in a gly1092-to-asp (G1092D) substitution within the triple-helical domain. The authors noted that the proband also carried an intronic variant of unclear significance (c.1366-13C-A; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200984998;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs200984998</a>) in the COL2A1 gene. DNA was unavailable from his unaffected nonconsanguineous parents for segregation analysis. The authors noted that the intronic variant was present in the 1000 Genomes Project Phase 3 database in heterozygous state in the Colombian population with a minor allele frequency of 0.011, and that the paternal grandparents of the proband were from Colombia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38162154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong>REFERENCES</strong>
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</h4>
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[<a href="https://doi.org/10.1073/pnas.88.15.6624" target="_blank">Full Text</a>]
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<a id="Ahmad1990" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1001/archopht.1995.01100110114034" target="_blank">Full Text</a>]
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Ahmad, N. N., McDonald-McGinn, D. M., Zackai, E. H., Knowlton, R. G., LaRossa, D., DiMascio, J., Prockop, D. J.
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<strong>A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.</strong>
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Am. J. Hum. Genet. 52: 39-45, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434604" 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="Ala-Kokko1990" class="mim-anchor"></a>
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<strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong>
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Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.17.6565" target="_blank">Full Text</a>]
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<a id="Alexander1965" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1001/archopht.1965.00970040312005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1042/bj2620521" target="_blank">Full Text</a>]
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<a id="Ballo1998" class="mim-anchor"></a>
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Ballo, R., Beighton, P. H., Ramesar, R. S.
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<strong>Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.</strong>
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Am. J. Med. Genet. 80: 6-11, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9800905" 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)80:1<6::aid-ajmg2>3.0.co;2-0" target="_blank">Full Text</a>]
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<a id="Barat-Houari2016" class="mim-anchor"></a>
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Barat-Houari, M., Dumont, B., Fabre, A., Them, F. T. M., Alembik, Y., Alessandri, J.-L., Amiel, J., Audebert, S., Baumann-Morel, C., Blanchet, P., Bieth, E., Brechard, M., and 43 others.
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<strong>The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626311</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26626311[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=26626311" 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/ejhg.2015.250" target="_blank">Full Text</a>]
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<a id="Barat-Houari2016" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/humu.22915" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J" target="_blank">Full Text</a>]
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Brown, D. M., Nichols, B. E., Weingeist, T. A., Sheffield, V. C., Kimura, A. E., Stone, E. M.
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[<a href="https://doi.org/10.1001/archopht.1992.01080230089027" target="_blank">Full Text</a>]
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<a id="Cammarata-Scalisi2023" class="mim-anchor"></a>
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Cammarata-Scalisi, F., Matysiak, U., Willoughby, C. E., Ruzaike, G., Cardenas Tadich, A., Araya Castillo, M., Zara-Chirinos, C., Bracho, A., Avendano, A., Jilani, H., Callea, M.
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[<a href="https://doi.org/10.1007/BF01535232" target="_blank">Full Text</a>]
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Williams, C. J., Ganguly, A., Considine, E., McCarron, S., Prockop, D. J., Walsh-Vockley, C., Michels, V. V.
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<strong>A(-2)-to-G transition at the 3-prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.</strong>
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Am. J. Med. Genet. 63: 461-467, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737653" 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(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U" target="_blank">Full Text</a>]
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Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., Ganguly, A.
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<strong>Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis.</strong>
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Hum. Molec. Genet. 4: 309-312, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757086" 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/4.2.309" target="_blank">Full Text</a>]
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<a id="Winterpacht1993" class="mim-anchor"></a>
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Winterpacht, A., Hilbert, M., Schwarze, U., Mundlos, S., Spranger, J., Zabel, B. U.
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<strong>Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.</strong>
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Nature Genet. 3: 323-326, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981752" 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/ng0493-323" target="_blank">Full Text</a>]
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<a id="Winterpacht1994" class="mim-anchor"></a>
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Winterpacht, A., Schwarze, U., Mundlos, S., Menger, H., Spranger, J., Zabel, B.
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<strong>Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.</strong>
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Hum. Molec. Genet. 3: 1891-1893, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849719" 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/3.10.1891" target="_blank">Full Text</a>]
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<a id="Wu1995" class="mim-anchor"></a>
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Wu, J.-J., Eyre, D. R.
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<strong>Structural analysis of cross-linking domains in cartilage type XI collagen: insights on polymeric assembly.</strong>
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J. Biol. Chem. 270: 18865-18870, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7642541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7642541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7642541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.270.32.18865" target="_blank">Full Text</a>]
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<a id="Yoo1983" class="mim-anchor"></a>
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Yoo, T. J., Tomoda, K., Stuart, J. M., Cremer, M. A., Townes, A. S., Kang, A. H.
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<strong>Type II collagen-induced autoimmune sensorineural hearing loss and vestibular dysfunction in rats.</strong>
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Ann. Otol. Rhinol. Laryng. 92: 267-271, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6602578" 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/10.1177/000348948309200310" target="_blank">Full Text</a>]
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Yoo, T. J., Tomoda, K., Stuart, J. M., Kang, A. H., Townes, A. S.
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<strong>Type II collagen-induced autoimmune otospongiosis: a preliminary report.</strong>
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Ann. Otol. Rhinol. Laryng. 92: 103-108, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6340584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6340584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6340584" 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/10.1177/000348948309200201" target="_blank">Full Text</a>]
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<a id="Young1984" class="mim-anchor"></a>
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Young, M. F., Vogeli, G., Nunez, A. M., Fernandez, M. P., Sullivan, M., Sobel, M. E.
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<strong>Isolation of cDNA and genomic DNA clones encoding type II collagen.</strong>
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Nucleic Acids Res. 12: 4207-4228, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6203098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6203098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6203098" 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/nar/12.10.4207" target="_blank">Full Text</a>]
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Zabel, B., Hilbert, K., Stoss, H., Superti-Furga, A., Spranger, J., Winterpacht, A.
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<strong>A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.</strong>
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Am. J. Med. Genet. 63: 123-128, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723097" 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(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P" target="_blank">Full Text</a>]
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Zankl, A., Zabel, B., Hilbert, K., Wildhardt, G., Cuenot, S., Xavier, B., Ha-Vinh, R., Bonafe, L., Spranger, J., Superti-Furga, A.
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<strong>Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.</strong>
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Am. J. Med. Genet. 129A: 144-148, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316962" 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.30222" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 01/24/2025
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Carol A. Bocchini - updated : 11/02/2022<br>Marla J. F. O'Neill - updated : 01/03/2018<br>Marla J. F. O'Neill - updated : 11/08/2017<br>Marla J. F. O'Neill - updated : 10/01/2015<br>Ada Hamosh - updated : 1/24/2014<br>Marla J. F. O'Neill - updated : 10/17/2011<br>Marla J. F. O'Neill - updated : 6/15/2011<br>Marla J. F. O'Neill - updated : 3/15/2011<br>Kelly A. Przylepa - updated : 4/17/2008<br>Kelly A. Przylepa - updated : 4/11/2008<br>Cassandra L. Kniffin - updated : 3/4/2008<br>Victor A. McKusick - updated : 6/13/2007<br>Victor A. McKusick - updated : 9/29/2006<br>Marla J. F. O'Neill - updated : 6/20/2006<br>Victor A. McKusick - updated : 2/14/2006<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Marla J. F. O'Neill - updated : 9/20/2005<br>Victor A. McKusick - updated : 6/17/2005<br>Marla J. F. O'Neill - updated : 10/7/2004<br>Victor A. McKusick - updated : 5/3/2004<br>Victor A. McKusick - updated : 4/14/2004<br>Victor A. McKusick - updated : 12/22/2003<br>Ada Hamosh - updated : 3/4/2003<br>Jane Kelly - updated : 9/10/2002<br>Sonja A. Rasmussen - updated : 7/10/2002<br>Victor A. McKusick - updated : 11/21/2000<br>Sonja A. Rasmussen - updated : 10/11/2000<br>Carol A. Bocchini - updated : 9/25/2000<br>Victor A. McKusick - updated : 3/17/2000<br>Victor A. McKusick - updated : 2/23/2000<br>Victor A. McKusick - updated : 7/20/1999<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/5/1999<br>Ada Hamosh - updated : 11/17/1998<br>Victor A. McKusick - updated : 8/13/1998<br>Victor A. McKusick - updated : 3/3/1998<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/13/1997<br>Victor A. McKusick - updated : 5/12/1997<br>Cynthia K. Ewing - updated : 10/14/1996<br>Lori M. Kelman - updated : 10/6/1996
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Victor A. McKusick : 6/4/1986
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carol : 01/24/2025
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carol : 05/09/2024<br>carol : 11/02/2022<br>carol : 09/28/2022<br>carol : 05/06/2022<br>alopez : 04/04/2022<br>carol : 03/25/2021<br>carol : 08/07/2020<br>carol : 01/10/2020<br>carol : 08/15/2018<br>carol : 01/03/2018<br>carol : 11/08/2017<br>carol : 07/13/2017<br>carol : 05/16/2017<br>carol : 03/02/2017<br>carol : 10/01/2015<br>carol : 9/29/2015<br>carol : 9/15/2015<br>carol : 6/23/2015<br>alopez : 1/24/2014<br>carol : 2/5/2013<br>joanna : 2/1/2013<br>joanna : 2/1/2013<br>terry : 10/3/2012<br>carol : 9/24/2012<br>carol : 9/6/2012<br>terry : 8/22/2012<br>carol : 8/9/2012<br>carol : 10/18/2011<br>terry : 10/17/2011<br>carol : 9/14/2011<br>carol : 8/22/2011<br>carol : 8/5/2011<br>terry : 7/21/2011<br>carol : 7/20/2011<br>wwang : 6/16/2011<br>terry : 6/15/2011<br>terry : 3/16/2011<br>terry : 3/16/2011<br>carol : 3/15/2011<br>terry : 3/15/2011<br>terry : 3/10/2011<br>terry : 3/10/2011<br>terry : 3/9/2011<br>terry : 3/9/2011<br>carol : 3/7/2011<br>carol : 3/4/2011<br>terry : 11/16/2010<br>terry : 4/17/2008<br>carol : 4/11/2008<br>wwang : 3/19/2008<br>carol : 3/7/2008<br>ckniffin : 3/4/2008<br>carol : 6/15/2007<br>terry : 6/13/2007<br>alopez : 10/16/2006<br>alopez : 10/16/2006<br>terry : 9/29/2006<br>wwang : 9/7/2006<br>wwang : 6/21/2006<br>terry : 6/20/2006<br>terry : 3/23/2006<br>alopez : 2/27/2006<br>terry : 2/14/2006<br>wwang : 10/11/2005<br>terry : 10/3/2005<br>wwang : 9/26/2005<br>terry : 9/20/2005<br>alopez : 7/29/2005<br>alopez : 6/22/2005<br>terry : 6/17/2005<br>carol : 11/18/2004<br>carol : 10/11/2004<br>carol : 10/8/2004<br>terry : 10/7/2004<br>tkritzer : 6/23/2004<br>terry : 5/3/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>carol : 3/17/2004<br>tkritzer : 12/23/2003<br>terry : 12/22/2003<br>tkritzer : 12/18/2003<br>tkritzer : 12/18/2003<br>cwells : 3/4/2003<br>carol : 11/15/2002<br>alopez : 9/10/2002<br>carol : 7/10/2002<br>carol : 2/6/2002<br>alopez : 6/13/2001<br>terry : 3/21/2001<br>carol : 12/21/2000<br>carol : 12/13/2000<br>terry : 11/21/2000<br>mcapotos : 10/13/2000<br>mcapotos : 10/11/2000<br>carol : 9/25/2000<br>carol : 6/16/2000<br>carol : 4/21/2000<br>carol : 4/21/2000<br>alopez : 4/12/2000<br>mgross : 3/17/2000<br>alopez : 2/25/2000<br>alopez : 2/25/2000<br>terry : 2/23/2000<br>terry : 12/1/1999<br>jlewis : 8/2/1999<br>terry : 7/20/1999<br>terry : 7/20/1999<br>carol : 1/29/1999<br>carol : 1/29/1999<br>terry : 1/26/1999<br>terry : 1/26/1999<br>carol : 1/13/1999<br>terry : 1/5/1999<br>dkim : 12/9/1998<br>alopez : 11/18/1998<br>alopez : 11/17/1998<br>alopez : 11/17/1998<br>alopez : 9/29/1998<br>carol : 8/27/1998<br>carol : 8/14/1998<br>terry : 8/13/1998<br>terry : 6/18/1998<br>terry : 5/29/1998<br>alopez : 3/24/1998<br>alopez : 3/16/1998<br>terry : 3/3/1998<br>mark : 7/16/1997<br>mark : 7/15/1997<br>mark : 7/15/1997<br>terry : 6/23/1997<br>terry : 6/20/1997<br>mark : 5/13/1997<br>terry : 5/12/1997<br>terry : 1/17/1997<br>terry : 12/17/1996<br>jamie : 11/13/1996<br>jamie : 10/23/1996<br>jamie : 10/16/1996<br>jamie : 10/14/1996<br>mark : 10/6/1996<br>mark : 6/25/1996<br>terry : 6/14/1996<br>mark : 3/15/1996<br>mark : 3/15/1996<br>mark : 3/3/1996<br>mark : 3/3/1996<br>terry : 2/23/1996<br>mark : 3/31/1995<br>davew : 6/27/1994<br>jason : 6/24/1994<br>terry : 5/13/1994<br>mimadm : 4/13/1994<br>warfield : 4/7/1994
|
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 120140
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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 II, ALPHA-1; COL2A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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COLLAGEN, TYPE II<br />
|
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COLLAGEN OF CARTILAGE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
|
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CHONDROCALCIN, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: COL2A1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1010668008, 111255008, 205483007, 254061001, 254064009, 278713008, 53974002, 702339001, 702350003, 720826006, 773727009, 78675000;
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<strong>ICD10CM:</strong> M91.1, Q77.0, Q77.7;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: 12q13.11
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:47,972,967-48,006,212 </span>
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
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|
</span>
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</p>
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</div>
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<div>
|
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<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
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|
</th>
|
|
<th>
|
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Phenotype
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|
</th>
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|
<th>
|
|
Phenotype <br /> MIM number
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|
</th>
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<th>
|
|
Inheritance
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
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<tbody>
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|
|
<tr>
|
|
<td rowspan="16">
|
|
<span class="mim-font">
|
|
12q13.11
|
|
</span>
|
|
</td>
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|
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<td>
|
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<span class="mim-font">
|
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?Epiphyseal dysplasia, multiple, with myopia and deafness
|
|
</span>
|
|
</td>
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|
<td>
|
|
<span class="mim-font">
|
|
132450
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
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|
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|
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|
|
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|
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|
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</tr>
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|
|
|
|
|
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|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Vitreoretinopathy with phalangeal epiphyseal dysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619248
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Achondrogenesis, type II or hypochondrogenesis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
200610
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Avascular necrosis of the femoral head
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608805
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Czech dysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609162
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Kniest dysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
156550
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Legg-Calve-Perthes disease
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
150600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Osteoarthritis with mild chondrodysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604864
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Platyspondylic skeletal dysplasia, Torrance type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
151210
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
SED congenita
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
183900
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMED Strudwick type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
184250
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondyloepiphyseal dysplasia, Stanescu type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616583
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondylometaphyseal dysplasia, Algerian type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
184253
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spondyloperipheral dysplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
271700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Stickler syndrome, type I
|
|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
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108300
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<span class="mim-font">
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Autosomal dominant
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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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Stickler syndrome, type I, nonsyndromic ocular
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<span class="mim-font">
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609508
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Collagens are major structural components of the extracellular matrix. Type II collagen, also called cartilage collagen, is the major collagen synthesized by chondrocytes. The same type of collagen occurs in the vitreous. Type II collagen is composed of 3 alpha-1(II) chains. These are synthesized as larger procollagen chains, which contain N- and C-terminal amino acid sequences called propeptides. After secretion into the extracellular matrix, the propeptides are cleaved, forming the mature type II collagen molecule (summary by Strom and Upholt, 1984 and Cheah et al., 1985). </p>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>Strom and Upholt (1984) isolated overlapping genomic DNA clones containing most of the coding sequences for chicken type II procollagen. They found that the chicken type II gene is 2 to 3 times more compact than the chicken type I alpha-2 gene (COL1A2; 120160) due to smaller introns. The coding sequence shows about 75% homology with type I alpha-1 (COL1A1; 120150) and 63 to 67% homology with type I alpha-2 and type III (COL3A1; 120180) sequences. Base composition and codon usage of type II are very similar to alpha-1(I) and different from alpha-2(I) and type III. The chicken type II gene appears to be present in single copy per haploid genome. Using probes corresponding to the chicken COL2A1 procollagen gene to screen a recombinant human DNA library, Strom and Upholt (1984) isolated a portion of the human COL2A1 gene. </p><p>Sangiorgi et al. (1984) isolated from a cartilage cDNA library a bovine clone encoding the pro-alpha-1(II) collagen chain. Because of the close homology of bovine and human collagens, the bovine clone could be used to isolate the corresponding gene from a human genomic library.</p><p>By comparison of amino acid sequences, van der Rest et al. (1986) showed that chondrocalcin is the C-propeptide of type II procollagen. Chondrocalcin is a calcium-binding protein found in developing fetal cartilage matrix and in growth plate cartilage when and where mineralization occurs in the lower hypertrophic zone. It appears to play a role in enchondral ossification. The new evidence on its identity to C-propeptide indicates that it is also important in assembly of the triple helix of type II collagen. See 156550 for evidence of abnormal processing of the C-propeptide of type II collagen resulting in imperfect fibril assembly and the clinical disorder called Kniest dysplasia. </p><p>Studying the gerbil, Slepecky et al. (1992) demonstrated that types II and IX (120210) collagen show colocalization in the inner ear. </p><p>Wu and Eyre (1995) provided evidence that what was formerly termed the alpha-3 chain of type XI collagen (COL11A3) is actually transcribed from the COL2A1 gene. </p>
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</span>
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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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<span class="mim-text-font">
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<p>By analysis of DNA from human-mouse cell hybrids, Sangiorgi et al. (1984) localized the COL2A1 gene to chromosome 12. The results were confirmed by similar experiments with the bovine cDNA probe. Using a cloned gene as a probe on Southern blots of DNA from a panel of interspecies somatic cell hybrids, Solomon et al. (1985) also assigned the COL2A1 locus to chromosome 12. </p><p>By somatic cell hybrid studies and in situ hybridization, Huerre-Jeanpierre et al. (1986) assigned COL2A1 to 12q13.1-q13.2 and COL3A1 to 2q31-q32.3. Law et al. (1986) used a cosmid clone of the entire COL2A1 gene in Southern analysis of DNA from somatic cell hybrids containing segments of chromosome 12. Two hybrids contained a similar terminal deletion of 12q14.3-qter but 1 was positive for the gene and 1 negative. This led Law et al. (1986) to conclude that the gene is located in 12q14.3. </p><p>Takahashi et al. (1990) described a 'new' nonisotopic method of in situ hybridization. It involved replication of R-bands by incorporation of bromodeoxyuridine (BrdU) into cells synchronized with thymidine. Fluorescent signals could be detected on R-banded prometaphases stained with propidium iodide. They illustrated the strength of the system by refining the localization of the COL2A1 gene to 12q13.11-q13.12. By nonisotopic in situ hybridization, Takahashi et al. (1990) showed that the COL2A1 gene is immediately proximal to the fragile site fra(12)(q13.1). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Lovell-Badge et al. (1987) introduced a cosmid containing the human type II collagen gene, including 4.5 kb of 5-prime and 2.2 kb of 3-prime flanking DNA, into mouse embryonic cells in vitro. Human type II collagen mRNA was found only in tissues that showed transcription from the endogenous (mouse) gene, and human type II collagen was found in cartilage. The findings indicated that the cis-acting requirements for correct temporal and spatial regulation of the gene were fulfilled by the introduced DNA. </p>
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</span>
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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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<span class="mim-text-font">
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<p>Several skeletal and ocular disorders have been found to be caused by mutation in the COL2A1 gene. These are sometimes referred to as type II collagenopathies.</p><p>Barat-Houari et al. (2016) provided a review of COL2A1 variants in type II collagenopathies, including 415 different mutations in 598 probands. </p><p><strong><em>Spondyloepiphyseal Dysplasia Congenita</em></strong></p><p>
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The first evidence for a defect in COL2A1 in SED congenita (SEDC; 183900) and in Langer-Saldino achondrogenesis (ACG2; 200610) was the finding of abnormal patterns of digestion of type II collagen by cyanogen bromide, as demonstrated by Horton (1987). Confirmation of the defect in SED congenita was provided by demonstration of mutation in COL2A1 (120140.0001 and 120140.0002).</p><p><strong><em>Achondrogenesis Type II</em></strong></p><p>
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Godfrey and Hollister (1988) presented evidence that the patient they studied with a lethal perinatal form of short-limbed dwarfism (ACG2; 200610) was heterozygous for an abnormal pro-alpha-1(II) chain which impaired the assembly and/or folding of type II collagen. Vissing et al. (1989) demonstrated that the mutation in the type II procollagen gene was a single base change that converted the codon for glycine (GGC) at amino acid 943 to a codon for serine (AGC) (120140.0002). </p><p><strong><em>Stickler Syndrome, Type I</em></strong></p><p>
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Francomano et al. (1987, 1987) demonstrated absolute linkage of COL2A1 and Stickler syndrome (STL1; 108300); a total lod score of 3.96 at theta = 0.0 was obtained. In a family with Stickler syndrome, Ahmad et al. (1990, 1991) identified a mutation in the COL2A1 gene (120140.0005). </p><p>Mutation in the COL2A1 gene (120140.0014) has also been found in a nonsyndromic ocular form of type I Stickler syndrome (609508).</p><p>In a patient with Stickler syndrome type I, who had a clinical diagnosis of otospondylomegaepiphyseal dysplasia (OSMED; 215150), Miyamoto et al. (2005) identified a splice acceptor mutation in intron 10 (709-2A-G; 120140.0048) of the COL2A1 gene. </p><p><strong><em>Osteoarthritis Associated with Chondrodysplasia</em></strong></p><p>
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Knowlton et al. (1989) found tight linkage (no recombination) of the COL2A1 gene with a precocious form of familial primary generalized osteoarthritis (OA) associated with chondrodysplasia (OSCDP; 604864). In the full report of this family, Knowlton et al. (1990) stated that a 16-year-old male had osteoarthritis of the middle metacarpophalangeal joints and hips as well as bilateral osteochondritis dissecans of the capitellum. A 38-year-old female also had osteoarthritis of the spine, wrists, proximal interphalangeal joints, and distal interphalangeal joints. Vertebral bodies were flattened with Schmorl nodes. Linkage analysis suggested that the mutation is in the COL2A1 locus with a maximum lod score of 2.39 in multipoint analysis. Morphometrics demonstrated a short trunk producing abnormally low upper segment to lower segment ratio. A mutation in the COL2A1 gene (120140.0003) in affected members of the kindred described by Knowlton et al. (1990) was identified by Ala-Kokko et al. (1990). </p><p>Nelson et al. (1998) presented further evidence that the synthesis of type II collagen is increased in osteoarthritis. Using an immunoassay, they showed that the content of the C-propeptide of type II procollagen, released extracellularly from the newly synthesized molecule, is directly related to the synthesis of this molecule in healthy and osteoarthritic articular cartilage. In OA cartilage, the content of the type II procollagen is often markedly elevated (mean 7.6-fold). The increase in type II procollagen in OA cartilage was not reflected in serum, where a significant reduction was observed. </p><p><strong><em>Kniest Dysplasia</em></strong></p><p>
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Wilkin et al. (1999) noted that 10 of 12 previously described dominant mutations in the COL2A1 gene in patients with Kniest dysplasia caused small deletions in the type II collagen molecule. They added 4 new mutations, bringing the total to 16. All 4 new mutations were also small deletions; a fifth patient was found to have a previously reported 28-bp deletion (120140.0012). </p><p>COL2A1 has 10 in-frame CGA codons that can mutate to TGA stop codons by a methylation-deamination mechanism. Wilkin et al. (2000) analyzed these 10 codons using restriction endonuclease analysis or allele-specific amplification. Mutations at 5 COL2A1 CGA codons were identified in 8 of 40 patients with Stickler syndrome, suggesting that these are common sites of mutation in this disorder. </p><p>Korkko et al. (2000) performed COL2A1 mutation analysis on 12 patients with achondrogenesis type II/hypochondrogenesis, using conformation sensitive gel electrophoresis, followed by sequencing. Mutations were identified in all patients. Ten had single base substitutions, 1 had a change in a consensus RNA splice site, and 1 was an 18-bp deletion of coding sequences. Mutations were widely distributed across the gene. </p><p>In 2 sporadic cases of the Torrance type of platyspondylic skeletal dysplasia (151210), Nishimura et al. (2004) identified de novo mutations in the COL2A1 gene (120140.0039-120140.0040). </p><p><strong><em>Avascular Necrosis of the Femoral Head and Legg-Calve-Perthes Disease</em></strong></p><p>
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Avascular necrosis of the femoral head (see ANFH1, 608805) causes disability that often requires surgical intervention. Most cases of ANFH are sporadic, but Liu et al. (2005) identified 3 families in which there was autosomal dominant inheritance of the disease with mapping of the phenotype to 12q13. Liu et al. (2005) carried out haplotype analysis in the families, selected candidate genes from the critical interval for an ANFH on 12q13, and sequenced the promoter and exonic regions of the COL2A1 gene from persons with inherited and sporadic forms of ANFH. In 2 of the families they identified the same gly1170-to-ser mutation (120140.0043), on different haplotype backgrounds. The gly717-to-ser mutation was detected in the third family (120140.0044). </p><p>Miyamoto et al. (2007) identified the gly1170-to-ser mutation (120140.0043) in affected members of a Japanese family with an autosomal dominant disorder manifesting as Legg-Calve-Perthes disease (LCPD; 150600), a form of ANFH in growing children. </p><p>In a 40-year-old man who was diagnosed with avascular necrosis of the femoral head at 18 years of age and underwent bilateral hip replacement at 33 years of age, Kannu et al. (2011) identified a heterozygous missense mutation in the C-propeptide region of the COL2A1 gene (120140.0054). The authors noted that mutations in the C-propeptide region typically cause significant skeletal findings unlike those found in this patient. </p><p><strong><em>Other Disorders Caused by COL2A1 Mutations</em></strong></p><p>
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Other disorders caused by mutation in the COL2A1 gene include spondylometaphyseal dysplasia (SMD; 184252; see 120140.0013); Strudwick type of spondyloepimetaphyseal dysplasia (184250; see 120140.0017); multiple epiphyseal dysplasia with myopia and conductive deafness (132450; see 120140.0029); spondyloperipheral dysplasia (271700; see 120140.0030); platyspondylic skeletal dysplasia, Torrance type (151210; see 120140.0039); Czech dysplasia (609162; see 120140.0018); rhegmatogenous retinal detachment (see 609508; see 120140.0045); vitreoretinopathy with phalangeal epiphyseal dysplasia (120140.0037); Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; 616583; see 120140.0055); and Algerian type of spondylometaphyseal dysplasia (SMDALG; 184253; see 120140.0057).</p><p>Machol et al. (2017) reported 2 unrelated patients diagnosed with the corner fracture type of spondylometaphyseal dysplasia (see SMDCF, 184255) in whom heterozygous mutations in the COL2A1 gene were reported, G345D and G945S, respectively. The G345D mutation had previously been detected in a patient diagnosed with the Strudwick type of spondyloepimetaphyseal dysplasia (SEMDSTWK, 184250) by Barat-Houari et al. (2016), and the G945S mutation had previously been reported by Terhal et al. (2015) in 5 affected members of a Dutch family diagnosed with mild spondyloepiphyseal dysplasia congenita resembling multiple epiphyseal dysplasia (see EDM1, 132400). Noting that Walter et al. (2007) also described a COL2A1-mutated patient with primarily metaphyseal involvement and apparent 'corner fractures,' Machol et al. (2017) suggested that SMDCF may be a heterogeneous disorder with a subset of patients showing overlap with type II collagenopathies. </p><p><strong><em>Somatic Mutation in Chondrosarcoma</em></strong></p><p>
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Tarpey et al. (2013) reported comprehensive genomic analyses of 49 individuals with chondrosarcoma (215300) and identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions, and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, Tarpey et al. (2013) identified mutations in IDH1 (147700) or IDH2 (147650) (59%), TP53 (191170) (20%), the RB1 pathway (see 614041) (33%), and Sonic hedgehog signaling (600725) (18%). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Helfgott et al. (1991) suggested that collagen type II may not only be involved in the sensorineural deafness that accompanies hereditary disorders such as spondyloepiphyseal dysplasia congenita and Stickler syndrome but may also be the target of an autoimmune process in some cases of acquired bilateral progressive sensorineural hearing loss. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Liberfarb et al. (2003) performed genotype/phenotype correlations in 47 affected members from 10 families with 7 defined mutations in the COL2A1 gene based on review of medical records and clinical evaluation of 25 additional family members from 6 of the 10 families. The ages ranged from 2 to 73 years with a mean age of 34.7 years. The classic Stickler phenotype was expressed clinically in all 10 Stickler families with COL2A1 mutations and all had evidence of vitreous degeneration type 1. Myopia was present in 41 of 47 family members. There was considerable interfamilial and intrafamilial variability in clinical expression. The prevalence of certain clinical features was a function of age. Liberfarb et al. (2003) concluded that it is difficult to predict the severity of the phenotype based on the genotype of COL2A1 mutation. </p><p>Nishimura et al. (2005) searched for COL2A1 mutations in 56 families suspected of having type II collagenopathies and found 38 mutations in 41 families. There were no radiologic differences between the cases with and those without mutations. Phenotypes for all 22 missense mutations and 1 in-frame deletion in the triple-helical region fell along the SED spectrum. Glycine-to-serine substitutions resulted in alternating zones that produced more severe and milder phenotypes; glycine-to-nonserine residue substitutions exclusively created more severe phenotypes. The gradient of the SED spectrum did not necessarily correlate with the occurrence of extraskeletal manifestations. All 9 truncation or splice site mutations in the triple-helical or N-propeptide region caused either Stickler syndrome type I or Kniest dysplasia (156550), and extraskeletal changes were consistently present in both phenotypes. All 6 C-propeptide mutations produced a range of atypical skeletal phenotypes and created ocular, but not otolaryngologic, changes. </p><p>Hoornaert et al. (2006) noted that the majority of COL2A1 mutations are substitutions of obligatory glycine residues in the triple-helical domain; of the few nonglycine missense mutations that have been reported, arginine-to-cysteine substitutions predominate. Hoornaert et al. (2006) investigated the clinical and radiologic phenotype in 11 patients in whom they had identified arg-to-cys mutations in the COL2A1 gene. Each mutation resulted in a rather constant and site-specific phenotype, but a perinatally lethal disorder was never observed. Spondyloarthropathy with normal stature and no ocular involvement were features of patients with the R75C (120140.0018), R519C (120140.0003), or R1076C mutation. Short third and fourth toes were a distinguishing feature of the R75C mutation, and brachydactyly with enlarged finger joints was a key feature of the R1076C substitution. Stickler dysplasia with brachydactyly was observed in patients with the R704C (120140.0029) mutation. The R365C (120140.0033) and R789C (120140.0016) mutations resulted in classic Stickler dysplasia and spondyloepiphyseal dysplasia congenita, respectively. </p><p>Barat-Houari et al. (2016) screened the COL2A1 gene in a cohort of 136 probands with clinical and/or radiographic suspicion of a type II collagen disorder. The authors identified 66 different mutations, spread throughout the COL2A1 gene, in 71 probands. They noted that the molecular spectrum was different across various diseases, e.g., all variant types were seen in Stickler syndrome, whereas only missense variants were seen in SEDC. Barat-Houari et al. (2016) stated that their results demonstrated the limits of focusing on a single gene for genetic diagnosis, given the lack of clear phenotype-to-genotype correlation, and suggested that a targeted next-generation sequencing approach should be used to screen patients with skeletal dysplasias for other candidate genes. </p><p><strong><em>Reviews</em></strong></p><p>
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Kuivaniemi et al. (1997) tabulated all reported disease-producing mutations in the COL2A1 gene. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Vandenberg et al. (1991) found that transgenic mice carrying a partially deleted human COL2A1 gene developed the phenotype of a chondrodysplasia with dwarfism, short and thick limbs, short snout, cranial bulge, cleft palate, and delayed mineralization of bone. In cultured chondrocytes from transgenic mice, the minigene was expressed as shortened pro-alpha-1(II) chains that were disulfide-linked to normal mouse type II collagen chains. Therefore, the phenotype was probably explained by depletion of endogenous mouse type II procollagen through the phenomenon of procollagen suicide. Garofalo et al. (1991) generated transgenic mice harboring a glycine-to-cysteine mutation at residue 85 of the triple-helical domain of mouse type II collagen. Offspring displayed severe chondrodysplasia with short limbs and trunk, craniofacial deformities, and cleft palate. Affected pups died of acute respiratory distress caused by inability to inflate the lungs at birth. Electron microscopic analysis showed a pronounced decrease in the number of typical thin cartilage collagen fibrils, distention of the rough endoplasmic reticulum of chondrocytes, and the presence of abnormally large banded collagen fibril bundles. Garofalo et al. (1991) postulated that the abnormally thick collagen bundles were related to a defect in crosslinking. They pointed out similarities to the chondrodysplasias of the spondyloepiphyseal dysplasia group. </p><p>Li et al. (1995) used homologous recombination in embryonic stem cells to prepare transgenic mice with an inactivated COL2A1 gene. Heterozygous mice had minimal phenotypic changes. Homozygous mice were delivered vaginally but died either just before or shortly after birth. In these mice the cartilage consisted of highly disorganized chondrocytes with a complete lack of extracellular fibrils discernible by electron microscopy. There was no endochondral bone or epiphyseal growth plate in long bones; however, many skeletal structures such as the cranium and ribs were normally developed and mineralized. Li et al. (1995) concluded that a well-organized cartilage matrix is required as a primary tissue for development of some components of the skeleton but is not essential for others. </p><p>Gaiser et al. (2002) constructed a transgenic mouse model of SED congenita using a type II collagen transgene with an arg789-to-cys change (R789C; 120140.0016) in combination with a murine Col2a1 promoter directing the gene expression to cartilage. Mice carrying the transgene were shorter overall, had shorter limbs with disorganized growth plates, a short nose, cleft palate, and died at birth. Using cell culture experiments and molecular modeling, Gaiser et al. (2002) suggested that this Y-position mutation acts in a dominant-negative way, resulting in destabilization of collagen molecules during assembly, reduction in the number of fibrils formed, and abnormal cartilage template function. Donahue et al. (2003) identified a naturally occurring arg1147-to-cys mutation in the Col2a1 gene in the mouse which resulted in recessive SED congenita with a less severe phenotype, as indicated by the fact that the mice survived to adulthood and reproduced normally. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>The following is an account of a temporarily confusing aspect of the collagen II gene. Weiss et al. (1982) described a collagen gene isolated in a 40-kb cosmid clone, cosHco11, which has some sequence homology to the alpha-1(I) gene, but which is clearly a different gene. Using this collagen alpha-1(I)-like probe on Southern blots of DNA from somatic cell hybrids, Solomon et al. (1984) found that the gene segregated with chromosome 12 and is not syntenic with the alpha-2(I) gene assigned to chromosome 7 (120160) or the alpha-1(I) gene assigned to chromosome 17 (120150). This gene contains an RFLP with HindIII. A 300-basepair deletion in the alpha-1(I)-like gene mapped by Solomon et al. (1984) was demonstrated by Pope et al. (1984) in a father and son with one form of Ehlers-Danlos syndrome II (EDS II; 130010). The deletion was found at or near the 3-prime end of the gene and was not identified in other cases of EDS II or in 400 normal controls. It was found, however, in 4 babies with lethal osteogenesis imperfecta congenita. The father and son with EDS II and the deletion showed altered collagen fibril size and shape. Subsequently, the 'alpha-1(I)-like' gene was shown to encode the alpha subunit of cartilage collagen and it was further shown that there is a polymorphism in this gene that is frequent in Asiatic Indians (Sykes et al., 1985). Of the 4 cases of Pope et al. (1984), 3 originated from India or Sri Lanka. This experience illustrates the hazards of confusing polymorphism with pathology. </p><p>Meulenbelt et al. (1996) determined the allele frequencies and pairwise linkage disequilibria of RFLPs distributed over the COL2A1 gene in a population of unrelated Dutch Caucasians. Their data indicated that disease-related population studies should include a minimum of 4 RFLPs. </p><p>Strom (1984) purported to find abnormality of the type II collagen gene in achondroplasia. If such a defect were present, one would expect ocular abnormality in achondroplasia inasmuch as type II collagen is present in vitreous. SED congenita is a more plausible candidate for a structural defect of type II collagen because it is a dominant disorder that combines skeletal dysplasia with vitreous degeneration and deafness (experimental studies with antibodies to type II collagen indicate that this collagen type is represented in the inner ear; Yoo et al., 1983). The work of Strom (1984) may be technically flawed. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>58 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 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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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COL2A1, 390-BP DEL
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<br />
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SNP: rs1555164872,
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ClinVar: RCV000018894
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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 patient with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; 183900), Lee et al. (1989) demonstrated a heterozygous in-frame deletion of exon 48 of the COL2A1 gene, which encodes amino acid residues 964-999 of the triple-helical of domain of the protein. </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 HYPOCHONDROGENESIS</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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COL2A1, GLY943SER
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<br />
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SNP: rs121912864,
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ClinVar: RCV000018895
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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 patient described by Godfrey and Hollister (1988) with 'a relatively mild case of type II achondrogenesis-hypochondrogenesis' (see 200610), Vissing et al. (1989) demonstrated heterozygosity for a G-to-A transition in exon 46 of the COL2A1 gene that converted glycine-943 to serine (G943S). The substitution disrupted the invariant Gly-X-Y structural motif necessary for perfect helix formation and led to an excessive overmodification, intracellular retention, and reduced secretion of type II collagen. </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>.0003 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA</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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COL2A1, ARG519CYS
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<br />
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SNP: rs121912865,
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gnomAD: rs121912865,
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ClinVar: RCV000018896, RCV001390123
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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 kindred described by Knowlton et al. (1990) with osteoarthritis associated with mild chondrodysplasia (OSCDP; 604864), Ala-Kokko et al. (1990) found a heterozygous change from arginine to cysteine at position 519 of the alpha-1(II) chain. In an affected family member who underwent hip surgery, Eyre et al. (1991) demonstrated that approximately one-fourth of the alpha-1(II) chains present in the polymeric extracellular collagen of the patient's cartilage contained the arg519-to-cys substitution. The protein exhibited other abnormal properties including disulfide-bonded alpha-1(II) dimers and signs of posttranslational overmodification. </p><p>Holderbaum et al. (1993) referred to 2 additional families with precocious-onset osteoarthritis and mild chondrodysplasia caused by the arg519-to-cys mutation. They reported studies suggesting that the mutation arose independently in at least 2 of the 3 known affected families. </p><p>Williams et al. (1995) found the arg519-to-cys mutation in a fourth family with early-onset osteoarthritis and late-onset spondyloepiphyseal dysplasia. </p><p>Bleasel et al. (1998) reported that the arg519-to-cys mutation in COL2A1 had been identified in 5 families with mild spondyloepiphyseal dysplasia and precocious osteoarthritis. Haplotype analysis identified 3 distinct mutation-bearing haplotypes, with 3 families sharing a common haplotype. For the 3 distinct haplotypes to have derived from a single founder, 3 independent recombination events were required. Thus, the arg519 codon appears to represent a possible site of recurrent mutations in COL2A1, an uncommon phenomenon in collagen genes. </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>.0004 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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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COL2A1, 45-BP DUP, EX48
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<br />
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SNP: rs2136514302,
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ClinVar: RCV000018898, RCV005089276
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of spondyloepiphyseal dysplasia (SEDC; 183900), Tiller et al. (1990) found an internal tandem duplication of 45 basepairs within exon 48 of COL2A1, resulting in the addition of 15 amino acids to the triple-helical domain of the protein. The abnormal molecule showed excessive posttranslational modification. The mutation was not carried by either parent, indicating a new dominant mutation. DNA sequence homology in the area of the duplication suggested that the mutation may have arisen by unequal crossover between related sequences. </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>.0005 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG732TER
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|
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|
|
<br />
|
|
|
|
SNP: rs121912866,
|
|
|
|
|
|
|
|
ClinVar: RCV000018899, RCV000726311
|
|
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|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1990, 1991) found a single base mutation altering the arginine at amino acid 732 of the triple-helical domain of COL2A1 to a stop codon. The mutation altered a CG dinucleotide and converted the codon CGA to TGA. This mutation was located in exon 40. Ahmad et al. (1991) noted that the mutation produced marked changes in the eye, which contains only small amounts of type II collagen, but had relatively mild effects on the many cartilaginous structures of the body that are rich in the same protein. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0006 MOVED TO 604864</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPOCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY574SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912867,
|
|
|
|
|
|
|
|
ClinVar: RCV000018901
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a case of hypochondrogenesis (see 200610), Horton et al. (1992) detected a subtle mutation in the COL2A1 gene by use of a chondrocyte culture system and PCR-cDNA scanning analysis. Chondrocytes obtained from cartilage biopsies were dedifferentiated and expanded in monolayer culture and then redifferentiated by culture over agarose. Single-strand conformation polymorphism and direct sequencing analysis identified a G-to-A transition, resulting in substitution of glycine by serine at amino acid 574 in the triple-helical domain of type II procollagen. The morphologic assessment of cartilage-like structures produced in culture and electrophoretic analysis of collagens synthesized by the cultured chondrocytes suggested that the glycine substitution interfered with conversion of type II procollagen to collagen, impaired intracellular transport and secretion of the molecule, and disrupted collagen fibril assembly. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 1-BP DEL, EX40
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2136528572,
|
|
|
|
|
|
|
|
ClinVar: RCV000018902, RCV002513111
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with Stickler syndrome (STL1; 108300), Brown et al. (1992) found that 4 affected members had deletion of a single basepair resulting in a translational frameshift in exon 40 of the COL2A1 gene. The mutation was not found in any of 5 clinically unaffected family members or in any of 15 unrelated control patients. All affected members had abnormal vitreous syneresis and all had retinal perivascular pigmentation. Retinal detachments occurred in 3 of the 4 affected patients. Three of the 4 had peripheral cortical 'wedge' cataracts, and the fourth had extensive nuclear sclerosis. In all 4 affected patients, there were abnormalities of the palate: bilateral torus palatini, linea alba with submucous cleft palate, bifid uvula, and 'notched' hard palate. All patients reported severe joint pains, and radiologic changes suggesting epiphyseal dysplasia were found in all 4. One patient had had left total hip replacement at a relatively young age. Palatal and ocular changes were illustrated by photographs, and radiographs of the skeletal changes were presented. The deletion was reported to involve a thymidine nucleotide at position 18 of exon 40. This resulted in a translational frameshift, with formation of a nonsense codon, TGA, downstream in exon 42, leading to premature termination of translation at that point. The deletion also created a new MspI restriction site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 HYPOCHONDROGENESIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY853GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912868,
|
|
|
|
|
|
|
|
ClinVar: RCV000018903
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with a severe form of skeletal dysplasia who required continuous respiratory support until his death at 3 months of age, Bogaert et al. (1992) demonstrated a gly853-to-glu mutation resulting from a GGA-to-GAA transition in the COL2A1 gene. The patient was heterozygous. The radiologic features were thought to be those of hypochondrogenesis (see 200610). Unilateral polydactyly had been noted at birth. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG9TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912869,
|
|
|
|
|
|
|
|
ClinVar: RCV000018904, RCV000579130
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1993) found a single-base mutation that converted codon 9 of the COL2A1 gene. (The amino acids of the alpha-1 chain were numbered with the standard convention in which the first amino acid in the triple-helical domain is numbered as +1 (Baldwin et al., 1989).) The mutation changed a CGA codon (arginine) to TGA (stop) codon. This mutation was located in exon 7. The PCR products contained both C and T, indicating that the patient was heterozygous for the mutation. The proband had been identified in a cleft palate clinic at the age of 1 year. He had severe myopia and was at the eighth percentile for height. Pelvic x-rays demonstrated small femoral heads with dumbbell-shaped enlargements of both ends of the femurs. Members in 3 generations and 4 sibships had severe myopia, often with other ocular manifestations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY997SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912870,
|
|
|
|
|
|
|
|
ClinVar: RCV000018905, RCV000484896, RCV001729352, RCV002247358, RCV002272023, RCV002276564, RCV003152666, RCV003320353
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Cole et al. (1993) found that a child with SED congenita (SEDC; 183900) was heterozygous for a G-to-A transition in exon 48 of the COL2A1 gene that resulted in the substitution of glycine-997 by serine in the triple helical domain of the type II collagen chain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 KNIEST DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 28-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2136609285,
|
|
|
|
|
|
|
|
ClinVar: RCV000018906, RCV003330396
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Winterpacht et al. (1993) demonstrated a 28-bp deletion spanning the 3-prime exon/intron boundary of exon 12 in a 2-year-old girl with Kniest dysplasia (156550). The mother presented with a milder phenotype consistent with the Stickler syndrome. She was shown to have mosaicism for the same deletion. </p><p>Wilkin et al. (1999) found this same mutation occurring at the junction between exon 12 and intron 12 of the COL2A1 gene in a patient with Kniest syndrome. The mutation deleted the splice donor site and was predicted to result in exon skipping in the mRNA encoded from the mutant allele. The female patient reported by Wilkin et al. (1999), their patient 4, had previously been reported by Siggers (1974) and Siggers et al. (1974), and by Maumenee and Traboulsi (1985). The diagnosis of Kniest dysplasia had been made at the age of 10.5 years. At that time, her height was 110.5 cm (height age 4 10/12 years). She had a flat and round face, prominent eyes with high myopia, flat bridge of the nose, with broad and prominent forehead, and a cleft uvula. Radiographs demonstrated severe platyspondyly, with greatest involvement of the dorsal spine. The superior and inferior endplates of the vertebral bodies were quite irregular, with spotted mineralization. There was considerable middorsal kyphosis and lumbar lordosis, as well as moderate scoliosis. The anterior-posterior diameters of the vertebral bodies appeared relatively wide, as did the interpedicular spaces. The limbs and hands had short bones, with shafts of normal to slightly diminished diameter, and greatly flared metaphyses and epiphyses. Ossification of the epiphyses was irregular and spotty, with some of the cartilaginous epiphyseal plates relatively wide, particularly at the distal radius and ulna. Wilkin et al. (1999) pointed out that the deletion in this case began with 7 nucleotides in exon 12 that duplicated 7 nucleotides (+3 through +9) of intron 12, creating the basis for homologous recombination with unequal crossing-over leading to deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY154ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912871,
|
|
|
|
|
|
|
|
ClinVar: RCV002280862
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old Finnish boy with spondyloepimetaphyseal dysplasia (184250), Vikkula et al. (1993) demonstrated a 1063G-A transition in exon 14 of the COL1A2 gene, which resulted in the conversion of gly154 to arg (G154R). This was a heterozygous de novo mutation which was not found in any other skeletal dysplasia patient studied in Finland. </p><p>Kaitila et al. (1996) found the same de novo heterozygous G154R mutation in an unrelated 26-year-old Finnish woman with spondyloepimetaphyseal dysplasia and provided follow-up on the patient reported by Vikkula et al. (1993). Both patients had been followed since the newborn period at Helsinki University Children's Hospital. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip 'dysplasia.' The metaphyseal abnormalities disappeared by 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>
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<span class="mim-font">
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<strong>.0014 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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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COL2A1, GLY67ASP
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<br />
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SNP: rs121912872,
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ClinVar: RCV000018908
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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>Korkko et al. (1993) identified a substitution of aspartate for glycine at position 67 in the alpha-1 chain of type II collagen in a family in which affected members had early-onset cataracts, lattice degeneration of the retina, and retinal detachment without involvement of nonocular tissues. Comparison with previously reported mutations suggested to Korkko et al. (1993) that premature termination codons in the COL2A1 gene are a frequent cause of Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for a bulkier amino acid can produce a broad spectrum of disorders ranging from lethal chondrodysplasia to a syndrome involving only ocular tissues. Korkko et al. (1993) noted phenotypic similarity to the family described by Wagner (1938) (see 143200). Richards et al. (2006) suggested that the disorder in this family was more likely to be a predominantly ocular form of Stickler syndrome type I (see 609508). </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>.0015 STICKLER SYNDROME, TYPE I</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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COL2A1, PRO846TER
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<br />
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SNP: rs121912873,
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ClinVar: RCV000018909, RCV000725373
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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 Stickler syndrome (STL1; 108300) in members of 4 successive generations, Ritvaniemi et al. (1993) found a deletion of a T in the third base position of the codon CCT for proline at position 846 of the collagen II alpha-1 chain. The deletion of the T shifted the reading frame and generated premature termination. Ritvaniemi et al. (1993) stated that this was the fourth example of a premature termination codon causing Stickler syndrome. </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>.0016 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</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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COL2A1, ARG789CYS
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<br />
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SNP: rs121912874,
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ClinVar: RCV000018910, RCV000478360, RCV000762895, RCV000995718
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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 4-year-old girl with clinical and radiographic features typical of SED congenita (SEDC; 183900), Chan et al. (1993) found heterozygosity for a 2913C-T transition in exon 14, resulting in an arg789-to-cys (R789C) substitution. The mutation resulted in the loss of an MaeII cleavage site that was used to confirm the fact that the proband was heterozygous and that neither parent had the mutation. Type II collagen extracted from cartilage and from cultured chondrocytes was approximately one-third of the mutant type and secretion of molecules containing mutant chains was impaired. The thermal stability of the collagen extracted from cartilage was normal, however. </p><p>In a patient with SED congenita, Chan et al. (1995) identified the R789C mutation. The substitution of a cysteine for an arginine in the Y position of the gly-X-Y triplet is noteworthy because cysteine is not normally found in the triple-helical domain of type II collagen in any species (Kuivaniemi et al., 1997). A cysteine at this position provides the opportunity for disulfide bonds to form, thus disrupting the formation of collagen fibrils. Two other arg-to-cys mutations have been described in the COL2A1 gene: R519C (120140.0003), resulting in osteoarthritis with mild chondrodysplasia (604864), and R75C (120140.0018), resulting in spondyloepiphyseal dysplasia with precocious osteoarthritis (609162). </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>.0017 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</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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COL2A1, GLY709CYS
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<br />
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SNP: rs121912875,
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ClinVar: RCV002509163
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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>Tiller et al. (1993, 1995) demonstrated that cartilage from 3 patients with SEMD Strudwick (184250) contained both normal alpha-1(II) collagen chains and chains that were posttranslationally overmodified. Cyanogen bromide peptide analysis and protein microsequencing of type II collagen from 1 patient demonstrated an amino acid substitution, gly709-to-cys, in the abnormal alpha chains. Direct DNA sequencing showed heterozygosity for a GGC-to-TGC transversion at the last glycine codon of exon 39. </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>.0018 CZECH DYSPLASIA</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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COL2A1, ARG75CYS
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<br />
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SNP: rs121912876,
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ClinVar: RCV000018912, RCV000988828, RCV001385337, RCV003228897, RCV003323361
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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>This mutation has also been designated arg275-to-cys (R275C) based on a different numbering system.</p><p>In a family living in the Chiloe Islands, Chile, Williams et al. (1993) demonstrated a heterozygous arg75-to-cys (R75C) mutation in the COL2A1 gene as the basis of spondyloepiphyseal dysplasia with shortened metacarpals and metatarsals, precocious osteoarthritis, and periarticular apatite-like calcific deposits. Seven individuals were involved in 3 generations of the family. Complete physical examination, anthropometric measurements, and radiographic studies of the spine and peripheral joints in 16 family members revealed that 7 had spondyloepiphyseal dysplasia tarda, brachydactyly, precocious osteoarthritis, and periarticular calcification, while 2 others had the same syndrome without brachydactyly (Reginato et al., 1994). The relationship of this type of SEDT to familial calcium pyrophosphate dihydrate deposition disease (118600) and idiopathic hip dysplasia, both endemic in Chiloe Islanders, required further investigation. </p><p>Hoornaert et al. (2007) performed targeted sequencing of exon 13 of the COL2A1 gene in patients with Czech dysplasia (609162) because of phenotypic similarities between individuals with this dysplasia and patients with the R75C mutation. They identified heterozygosity for the R75C mutation in 5 patients with Czech dysplasia, including 2 of the 4 original patients described with this disorder. All affected individuals had normal height, spondyloarthropathy, and short postaxial toes. </p><p>In an affected father, daughter, and son from a Japanese family with Czech dysplasia, Matsui et al. (2009) identified heterozygosity for the R275C mutation in the COL2A1 gene. The mutation was not found in the unaffected mother. The authors stated that this was the first reported family with Czech dysplasia that was not of European ancestry, and family history was consistent with de novo occurrence of the disease in the father. </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>.0019 KNIEST DYSPLASIA</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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|
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COL2A1, IVS20, A-G, -2
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|
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<br />
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|
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SNP: rs794727377,
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|
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ClinVar: RCV000018913, RCV002247359, RCV002513112
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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>Winterpacht et al. (1994) investigated the molecular defect in a girl with Kniest dysplasia (156550) whose father had a very mild form of spondyloepiphyseal dysplasia congenita (SEDC) with premature osteoarthrosis. The father was found to be a mosaic for a mutation that was present in nonmosaic state in the child: an A-to-G transition at the 3-prime end of intron 20 affecting the highly conserved AG dinucleotide of the acceptor splice site. The result was the utilization of a cryptic AG splice site located 18-bp downstream and a resulting in-frame deletion of 18 bp from the mRNA. This situation has similarities to that described in 120140.0012. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0020 KNIEST DYSPLASIA</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">
|
|
|
|
COL2A1, GLY103ASP
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<br />
|
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|
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SNP: rs121912877,
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|
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|
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|
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ClinVar: RCV000018914, RCV000724305
|
|
|
|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Wilkin et al. (1994) used SSCP to analyze an amplified genomic DNA fragment containing exon 12, under suspicion because of its deletion in a previously reported patient (120140.0012), from 7 individuals with Kniest dysplasia (156550). An abnormality was identified in 1 patient who was found on DNA sequence analysis to be heterozygous for a G-to-A transition that implied substitution of glycine-103 of the triple helical domain by aspartate. The mutation was not observed in DNA from either of the clinically unaffected parents. Protein microsequencing demonstrated expression of the abnormal allele in cartilage. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ACHONDROGENESIS, TYPE II</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY769SER
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|
|
|
<br />
|
|
|
|
SNP: rs121912878,
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|
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|
|
|
|
|
ClinVar: RCV000018915
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a fetus with type II achondrogenesis (ACG2; 200610), Chan et al. (1995) described heterozygosity for a G-to-A transition at nucleotide 2853 in exon 441 of the COL2A1 gene, resulting in a gly769-to-ser substitution within the triple helical domain of the type II collagen chain. The result was complete absence of type II collagen in cartilage, which had a gelatinous composition. Types I and III collagens were the main species found in cartilage and synthesized by cultured chondrocytes along with cartilage type XI collagen (120280). Cultured chondrocytes produced a trace amount of type II collagen that was retained within the cells and not secreted. In situ hybridization of cartilage sections showed that the chondrocytes produced both type I and type II collagen mRNA. Chan et al. (1995) noted that the gly769 substitution is situated close to the mammalian collagenase cleavage site at gly775/leu776. The abnormality was detected by ultrasonography at 19 weeks of gestation when severe shortening of the limbs and trunk and marked edema around the neck was noted. The pregnancy was terminated at 20 weeks of gestation. External examination showed very short limbs, large head, short trunk, bulging abdomen, and edema of the head and neck. Radiographs, which were presented by Chan et al. (1995), showed very short tubular bones with metaphyseal expansion and cupping, absent ossification of the vertebrae and sacrum, small iliac wings with absent ossification of the pubis and ischium, and short ribs, but relatively normal ossification of the calvarium. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
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</div>
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|
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 ACHONDROGENESIS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY691ARG
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|
|
|
<br />
|
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|
|
SNP: rs121912879,
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|
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|
|
|
|
|
ClinVar: RCV000022480
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|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Mortier et al. (1995) examined a male fetus by ultrasound during the third trimester and observed polyhydramnios and severe short-limb dwarfism. The parents elected to induce delivery at 31 weeks of gestation and the neonate, who had achondrogenesis type II (ACG2; 200610), died soon after birth. There was severe shortening of the limbs and chest with distention of the abdomen. The head was relatively large and the neck appeared short. Radiographs showed absence of ossification of all the vertebral bodies. The chest appeared bell-shaped with mild shortening of the ribs. Anterior and posterior ends of the ribs were flared and cupped. The width of the iliac wings was increased and the greater sciatic notch was wide. The ischium and pubis were not ossified. All the long bones were markedly shortened with flared and cupped metaphyses. Electron microscopy showed inclusion bodies of dilated rough endoplasmic reticulum in chondrocytes and the presence of sparse collagen fibers in the cartilage matrix. Protein analysis of collagen from cartilage indicated posttranslational overmodification of the major cyanogen bromide peptides and suggested a mutation near the carboxyl terminus of the type II collagen molecule. Mortier et al. (1995) referred to reports of 3 other dominant mutations in the COL2A1 gene resulting in substitutions for triple helical glycine residues near the carboxy-terminal end of the alpha-1(II) chain and causing hypochondrogenesis. Mortier et al. (1995) demonstrated a single base change (G-to-C) that resulted in the substitution of glycine-691 by arginine in the type II collagen triple helical domain. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
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COL2A1, 1-BP DEL, EX50
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<br />
|
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|
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SNP: rs2136508504,
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|
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|
|
|
|
|
ClinVar: RCV000018916, RCV001851924
|
|
|
|
|
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</span>
|
|
</div>
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|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>By direct sequencing of the COL2A1 gene, Ahmad et al. (1995) demonstrated that affected members of a family with Stickler syndrome (STL1; 108300) had a single base deletion in exon 50, resulting in a premature stop codon in exon 51 in the globular C-propeptide of the COL2A1 gene. The deletion involved a cytosine at position 92 in exon 50. Three generations were affected in the family. The proband was referred for cataract and total retinal detachment in 1 eye at the age of 3 years. Marked genu valgum, hyperextensibility of joints, cleft palate, and flattened facies were noted. Mild hearing loss was also documented. The father's left eye had been blind since the age of 8 years secondary to a detached retina. Retinal detachment on the right occurred at the age of 39 years. He also showed hyperextensibility of joints and some spinal changes. The proband's paternal uncle suffered detached left retina after diving into a swimming pool at age 15 years. Hyperextensibility of joints and loss of hearing in the left ear were noted at the age of 35 years. Hyperextensible joints were present in other relatives and Pierre Robin syndrome was noted in some. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, IVS17, A-G, -2
|
|
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|
|
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<br />
|
|
|
|
SNP: rs2136577259,
|
|
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|
|
|
|
|
ClinVar: RCV000018917, RCV002513113
|
|
|
|
|
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</span>
|
|
</div>
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In the original Minnesota kindred on the basis of which Stickler et al. (1965) defined the Stickler syndrome (STL1; 108300), Williams et al. (1996) identified a splice site mutation in the COL2A1 gene. They used conformational sensitive gel electrophoresis (SSGE) to screen for mutations in the entire gene. They noted a prominent heteroduplex in the PCR product from a region of the gene including exons 17 to 20. Direct sequencing of PCR-amplified genomic DNA identified an A-to-G transition at the -2 position at the 3-prime acceptor splice site of IVS17. Sequencing of DNA from affected and unaffected family members confirmed that the mutation segregated with the disease phenotype. RT-PCR analysis of poly(A)+ RNA demonstrated that the mutant allele utilized a cryptic splice site in exon 18 of the gene, eliminating 16 bp at the start of exon 18. This frameshift eventually resulted in a premature termination codon. Williams et al. (1996) stated that this was the first report of a splice site mutation in classical Stickler syndrome. They provided a satisfying historical context in which to view COL2A1 mutations in this disorder. </p>
|
|
</span>
|
|
</div>
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|
<div>
|
|
<br />
|
|
</div>
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|
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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>.0025 KNIEST DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
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|
COL2A1, 1-BP DEL, IVS18, G, +1
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs587776847,
|
|
|
|
|
|
|
|
ClinVar: RCV000018918
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>Spranger et al. (1997) demonstrated that the original patient reported by Kniest (1952) had a single base (G) deletion involving the GT dinucleotide of the start of intron 18 of the COL2A1 gene. From a review of the molecular defect found in other cases of this disorder, Spranger et al. (1997) concluded that the condition is caused by small in-frame deletions often due to exon skipping as a result of COL2A1 splice site mutations. Spranger et al. (1997) provided a useful follow-up on the original patient, then 50 years of age. She was severely handicapped with short stature, restricted joint mobility, and blindness, but was mentally alert and led an active life. Radiologic findings at the age of 4.5 years and 29 years were presented. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 KNIEST DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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|
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|
COL2A1, IVS24, G-A, +5
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs1408154129,
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|
|
|
|
|
gnomAD: rs1408154129,
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|
|
|
|
|
ClinVar: RCV000018919, RCV005089277
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
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<span class="mim-text-font">
|
|
<p>In a neonatal lethal form of Kniest dysplasia (156500), Weis et al. (1998) found deletion of 18 residues corresponding to exon 24 of the COL2A1 sequence. Sequence analysis of an amplified genomic DNA fragment identified a G-to-A transition in the +5 position of the splice donor consensus sequence of intron 24 in 1 allele. Cartilage matrix analysis showed that the abnormally short alpha-1(II) chain was present in collagen molecules that had become cross-linked into fibrils. It appeared that the normal and the short alpha-chains had combined to form heterotrimeric molecules in which the chains were in register in both directions from the deletion site, accommodated effectively by a loop out of the normal chain exon 24 domain. Such an accommodation, with potential overall shortening of the helical domain and hence misalignment of intermolecular relationships within fibrils, offers a common molecular mechanism by which a group of different mutations might act to produce the Kniest phenotype. The patient, an infant girl, was the product of a 37-week gestation and died of respiratory distress at 10 days of age. She had short limbs, clubfeet, cleft palate, midface hypoplasia, and narrow chest. X-rays showed flattened vertebral bodies with coronal clefts, slight shortening of the ribs, and dumbbell-shaped femurs. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY304CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912880,
|
|
|
|
|
|
gnomAD: rs121912880,
|
|
|
|
|
|
ClinVar: RCV000380315, RCV002509164
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 120140.0017. In 2 unrelated patients with SEMD Strudwick (184250), Tiller et al. (1995) found a gly304-to-cys mutation and a gly292-to-val mutation in the COL2A1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY292VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912881,
|
|
|
|
|
|
|
|
ClinVar: RCV002509165
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 120140.0027 and Tiller et al. (1995). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG704CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912882,
|
|
|
|
|
|
|
|
ClinVar: RCV000018922, RCV000414959, RCV000513905, RCV004595885
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Afrikaner South African family with multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMCD; 132450), Ballo et al. (1998) detected a heterozygous C-to-T transversion at nucleotide 2503 in exon 39 of the COL2A1 gene. This resulted in an arg-to-cys substitution at residue number 704, occurring at the X position of the Gly-X-Y motif of the collagen triple helix. Myopia and deafness characteristic of Stickler syndrome (108300) were present, with radiologic findings consistent with multiple epiphyseal dysplasia (MED). COL2A1 mutations causing Stickler syndrome have resulted in premature termination codons, while mutations causing spondyloepiphyseal dysplasia were glycine alterations or arg-to-cys substitutions at the Y position of the Gly-X-Y unit. Ballo et al. (1998) stated that this mutation could represent the first report of a nontermination COL2A1 mutation in Stickler syndrome type 1, or the first report of a COL2A1 defect in an MED phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 SPONDYLOPERIPHERAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 5-BP DUP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2136504869,
|
|
|
|
|
|
|
|
ClinVar: RCV000018923
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zabel et al. (1996) described a 5-bp duplication in exon 51 of the COL2A1 gene, leading to a stop codon, in a patient with a distinct phenotype labeled spondyloperipheral dysplasia (271700). The mutation was present in heterozygous state and the patient was sporadic (new mutation). The patient, a girl, was born to healthy, nonconsanguineous parents and was 45 cm at birth. A skeletal dysplasia was suspected because of rhizomelic shortening of the arms and legs. X-ray findings at 7 months of age suggested SED congenita. At the age of 14 years the patient was 127.4 cm tall with short, broad fingers and very short toes II-V. Additional findings were a slightly hypoplastic midface with depressed nasal bridge, severe myopia, short neck and trunk, accentuated lumbar lordosis, and limited extension of the elbow joints. Short metacarpals were impressive in the hand x-rays, and very short toes II-V were impressive in the photograph of the feet. The 5-bp duplication was the first to be located at the C-terminal outside the helical domain of COL2A1. It seemed to affect helix formation and produced changes of chondrocyte morphology, collagen type II fibril structure, and cartilage matrix composition. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY973ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912883,
|
|
|
|
|
|
|
|
ClinVar: RCV000018924
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Sobetzko et al. (2000) described a newborn infant with an unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia. A history of digital anomalies in the father and grandfather led to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS; 175700). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital SED (SEDC; 183900). Molecular analysis confirmed the presence of 2 dominant mutations in the infant: a GLI3 mutation (E543X; 165240.0010), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to an gly973-to-arg amino acid substitution. Thus, this boy combined the Greig syndrome with a severe form of SED. The diagnostic difficulties posed by the combination of 2 genetic disorders and the usefulness of molecular diagnostics were well illustrated. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, IVS25DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057524696,
|
|
|
|
|
|
|
|
ClinVar: RCV000018925, RCV001851925
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Freddi et al. (2000) described a novel strategy for screening families with type I Stickler syndrome (STL1; 108300) due to nonsense mutations in the COL2A1 gene, using a modified RNA-based protein truncation test. To overcome the problem of the unavailability of collagen II-producing cartilage cells, they performed RT-PCR on the illegitimate transcripts of accessible cells (lymphoblasts and fibroblasts), which were preincubated with cycloheximide to prevent nonsense mutation-induced mRNA decay. The 5 overlapping RT-PCR fragments covering the COL2A1 coding region were then transcribed and translated in vitro to identify smaller truncated protein products resulting from a premature stop codon. Using this method, Freddi et al. (2000) screened a 4-generation family with Stickler syndrome and identified a protein-truncating mutation that was present in all affected individuals. Targeted sequencing identified the mutation as a G-to-A transition at the +1 position of the 5-prime splice donor site of intron 25. The mutation led to the activation of a cryptic splice site 8 bp upstream, causing aberrant mRNA splicing and a translational frameshift that introduced a premature stop codon. Mutant mRNA was undetectable without cycloheximide protection, demonstrating that the mutant mRNA was subjected to nonsense-mediated mRNA decay. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG365CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912884,
|
|
|
|
|
|
|
|
ClinVar: RCV000018926, RCV000413561, RCV001074673, RCV001197973, RCV001807733, RCV004528123
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Richards et al. (2000) observed a recurrent arg365-to-cys (R365C) mutation of the COL2A1 gene in 2 unrelated sporadic cases of Stickler syndrome (STL1; 108300). The mutation was located in the X position of the Gly-X-Y triple helical region and resulted in the membranous vitreous anomaly associated with haploinsufficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, LEU467PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912885,
|
|
|
|
|
|
gnomAD: rs121912885,
|
|
|
|
|
|
ClinVar: RCV000018927, RCV000144727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Richards et al. (2000) observed a leu467-to-phe (L467F) mutation of the COL2A1 gene in a family with Stickler syndrome (STL1; 108300) which produced an unusual 'afibrillar' vitreous gel devoid of all normal lamellar structure. Systemic involvement was mild, with many family members lacking joint laxity or radiologic abnormality, hearing loss, midface hypoplasia, abnormal nasal development, and midline clefting. Richards et al. (2005) referred to the phenotype in this family as an atypical form of Stickler syndrome/dominant rhegmatogenous retinal detachment (609508). They noted that the amino acid substitution arose from a 20996C-T transition. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, THR1370MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912886,
|
|
|
|
|
|
gnomAD: rs121912886,
|
|
|
|
|
|
ClinVar: RCV000018928, RCV000190574, RCV001299254, RCV004734525
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Unger et al. (2001) reported a child with double heterozygosity for pseudoachondroplasia (177170), resulting from a mutation in the COMP gene (600310.0014) and spondyloepiphyseal dysplasia congenita (SEDC; 183900), resulting from a thr1370-to-met mutation in the COL2A1 gene. The child inherited pseudoachondroplasia from his mother and spondyloepiphyseal dysplasia congenita from his father. He had clinical and radiographic findings that were more severe than those in either disorder alone. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 2-BP DEL, 4274GT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2136637244,
|
|
|
|
|
|
|
|
ClinVar: RCV000018929, RCV003556044
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gupta et al. (2002) examined a large French Canadian kindred originally described by Alexander and Shea (1965) as representing Wagner disease (143200). In affected individuals, they found a novel frameshift mutation (4274del2bp) in exon 2 leading to early truncation of the COL2A1 protein (cys57 to stop; C57X). The mutation arose in an exon that is selectively present in vitreous collagen mRNAs, but absent in cartilage mRNAs through tissue-specific alternate splicing. The authors concluded that the selective absence of exon 2 in cartilage explained why this family did not manifest the progressive spondyloarthropathy of Stickler syndrome (108300) that is a more common result of mutations in COL2A1. </p><p>Richards et al. (2006) suggested that the disorder in this family was more likely to be a predominantly ocular form of Stickler syndrome type I (see 609508). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL2A1, GLY1105ASP
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|
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|
<br />
|
|
|
|
SNP: rs121912887,
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|
|
|
|
|
gnomAD: rs121912887,
|
|
|
|
|
|
ClinVar: RCV000018930, RCV005089278
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Richards et al. (2002) described a large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and phalangeal epiphyseal dysplasia resulting in brachydactyly (VPED; 619248). Linkage to the COL2A1 gene was demonstrated, and mutation analysis identified a change at codon 1105 in exon 52 from GGC (gly) to GAC (asp) (G1105D) in the C-propeptide region of the molecule. The gly-to-asp change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype did not fit easily with preexisting subgroups of the type II collagenopathies. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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|
<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 ACHONDROGENESIS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
COL2A1, GLY316ASP
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|
<br />
|
|
|
|
SNP: rs121912888,
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|
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|
ClinVar: RCV000022481
|
|
|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 successive pregnancies of a healthy, nonconsanguineous young couple, Faivre et al. (2004) observed lethal achondrogenesis type II (ACG2; 200610). Heterozygosity for a 1340G-A transition in exon 22 of the COL2A1 gene resulting in a gly316-to-asp (G316D) amino acid substitution was identified in the second fetus. The mutation was not found in the parents. Faivre et al. (2004) hypothesized germline mosaicism in 1 of the parents as the explanation for the recurrence of this autosomal dominant disorder. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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|
<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
SPONDYLOPERIPHERAL DYSPLASIA, INCLUDED
|
|
</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
COL2A1, TYR1391CYS
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|
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|
<br />
|
|
|
|
SNP: rs121912889,
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|
|
|
|
|
|
|
ClinVar: RCV000018931, RCV000022482, RCV001377068
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of the Torrance type of platyspondylic skeletal dysplasia (151210) delivered stillborn at 34 weeks' gestation, Nishimura et al. (2004) identified a de novo heterozygous 4172A-G transition in exon 53 of the COL2A1 gene, resulting in a tyr1391-to-cys (Y1391C) mutation affecting the C-propeptide region of the protein. </p><p>Hoornaert et al. (2007) identified a heterozygous 4172A-G transition of the COL2A1 gene in a girl originally diagnosed with Czech dysplasia (case III of Kozlowski et al., 2004). The patient had significant disproportionate short stature (-4.55 standard deviation at age 14) and short toes. Hoornaert et al. (2007) suggested that this patient has spondyloperipheral dysplasia (271700). </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>.0040 PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 4-BP DEL, 4413AGGG
|
|
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|
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|
<br />
|
|
|
|
SNP: rs1592192920,
|
|
|
|
|
|
|
|
ClinVar: RCV000018932
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of the Torrance type of platyspondylic skeletal dysplasia (151210), Nishimura et al. (2004) identified a de novo 4-bp deletion in exon 54 of the COL2A1 gene, 4413delAGGG, resulting in a frameshift with a premature stop at codon 1480. The phenotype, as indicated by radiologic manifestations during the neonatal period, evolved into that of Kniest-like dysplasia (see 156550) in childhood; the patient, 5 years of age at the time of report, survived respiratory problems in infancy. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 SPONDYLOPERIPHERAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, 1-BP DEL, 4337G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1565664375,
|
|
|
|
|
|
|
|
ClinVar: RCV000018933, RCV003338384
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with spondyloperipheral dysplasia (271700), Zankl et al. (2004) identified mutations in the COL2A1 gene. The first patient had a heterozygous 1-bp deletion at nucleotide 4337 in exon 52, resulting in a frameshift at codon 1446 and a premature stop codon 25 amino acids downstream. The second patient had a truncating mutation in exon 51 (see 120140.0042). Neither mutation was present in the patients' parents or in 100 control chromosomes. Both patients had clubfeet, midface hypoplasia, early-onset high grade myopia, platyspondyly, epiphyseal dysplasia, and brachydactyly E-like changes developing in childhood. The authors noted that the phenotype was remarkably similar to that described by Zabel et al. (1996) (see 120140.0030). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 SPONDYLOPERIPHERAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, CYS1438TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912890,
|
|
|
|
|
|
|
|
ClinVar: RCV000018934
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with spondyloperipheral dysplasia (271700), Zankl et al. (2004) identified a heterozygous 4314C-A transversion in exon 51 of the COL2A1 gene, resulting in a cys1438-to-ter (C1438X) substitution. See 120140.0041. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
LEGG-CALVE-PERTHES DISEASE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY1170SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912891,
|
|
|
|
|
|
|
|
ClinVar: RCV000018935, RCV000018936, RCV001382419, RCV005007871
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 families with autosomal dominant avascular necrosis of the femoral head (ANFH1; 608805), Liu et al. (2005) identified a G-to-A transition in exon 50 of the COL2A1 gene, predicted to lead to the replacement of glycine with serine at codon 1170 (G1170S) in a Gly-X-Y repeat of type II collagen. The mutant allele occurred on a different haplotype background in each of the 2 families. </p><p>Miyamoto et al. (2007) identified the same heterozygous 3508G-A mutation in affected members of a Japanese family with an autosomal dominant disorder manifesting as Legg-Calve-Perthes disease (LCPD; 150600). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0044 AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY717SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906558,
|
|
|
|
|
|
|
|
ClinVar: RCV000018937
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with autosomal dominant avascular necrosis of the femoral head (ANFH1; 608805), Liu et al. (2005) identified a G-to-A transition in exon 33 of the COL2A1 gene, causing a glycine-to-serine change at codon 717 (G717S). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG453TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912893,
|
|
|
|
|
|
gnomAD: rs121912893,
|
|
|
|
|
|
ClinVar: RCV000018938, RCV000018939, RCV000481275, RCV000762896, RCV004689424, RCV004975261
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic Stickler syndrome (STL1; 108300), Wilkin et al. (2000) identified a C-to-T transition in the COL2A1 gene, resulting in an arg453-to-ter (R453X) substitution. The patient had cleft palate, sensorineural hearing loss, joint laxity, high myopia, vitreoretinal degeneration, and retinal breaks and detachments. </p><p>In affected members of a family with no systemic characteristics of Stickler syndrome but dominantly inherited rhegmatogenous retinal detachment or retinal tears (609508), Go et al. (2003) identified the R453X mutation, which they noted was in exon 30 (Wilkin et al. (2000) had placed the mutation in exon 28). They noted that previously reported predominantly ocular Stickler syndrome cases had been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY118ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912894,
|
|
|
|
|
|
|
|
ClinVar: RCV000018940, RCV001851926
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with dominantly inherited rhegmatogenous retinal detachment (609508) and no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome (108300), Richards et al. (2005) identified a 10838G-A transition in exon 15 of the COL2A1 gene, resulting in a gly118-to-arg (G118R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ARG792GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912895,
|
|
|
|
|
|
|
|
ClinVar: RCV001851927, RCV002509166
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In monozygotic twin girls with SEMD Strudwick (184250), Sulko et al. (2005) identified heterozygosity for a 79A-G transition in exon 41 of the COL2A1 gene, resulting in an arg792-to-gly (R792G) substitution. The mutation was not detected in the unaffected parents or in 90 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 STICKLER SYNDROME, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, IVS10AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1592232116,
|
|
|
|
|
|
|
|
ClinVar: RCV000018942
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old Japanese female with Stickler syndrome (STL1; 108300), who had a clinical diagnosis of otospondylomegaepiphyseal dysplasia (see 215150), Miyamoto et al. (2005) identified a splice acceptor site mutation within intron 10 (709-2A-G) of the COL2A1 gene. The mutation was predicted to cause skipping of exon 11, which was presumed to cause an in-frame deletion of the triple helical region of the COL2A1 product. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, IVS51DS, T-C, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1592196064,
|
|
|
|
|
|
|
|
ClinVar: RCV000018943
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with the predominantly ocular form of type I Stickler syndrome (609508), Richards et al. (2006) found that the donor splice site of intron 51 showed a change from GT to GC. Using splicing reporter constructs, they demonstrated that normal transcripts could be produced from this mutant allele. Some GC donor splice sites exist naturally in the human genome (Thanaraj and Clark, 2001). Whether there is a difference in the efficiency of normal splicing from the mutant GC allele between cartilage and ocular tissue was unknown. However, Richards et al. (2006) observed that not all cells transfected with the mutant minigene were capable of normal processing of the mutant mRNA, so tissue-specific missplicing may be one explanation for the predominantly ocular phenotype in this family. An alternative explanation is that vitreous development (which is rapid, with the secondary vitreous complete by 12 weeks' gestation) is more susceptible to a reduction in the level of type II collagen than is cartilage development, in which the extracellular matrix has longer to develop. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0050 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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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COL2A1, TRP47TER
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<br />
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SNP: rs121912896,
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ClinVar: RCV000018944
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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 with the predominantly ocular form of Stickler syndrome type I (609508), Richards et al. (2006) found a nonsense mutation, trp47 to ter (W47X), resulting from a 141G-A transition in exon 2 of the COL2A1 gene. They observed 2 other examples of predominantly ocular Stickler syndrome due to mutations in the alternatively spliced exon 2. One other mutation causing this phenotype was located at the donor splice site of IVS51 (120140.0049). </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>.0051 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</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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COL2A1, CYS64TER
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<br />
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SNP: rs121912897,
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gnomAD: rs121912897,
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ClinVar: RCV000018945, RCV000657640, RCV002470714, RCV004532390
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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 2 unrelated patients with nonsyndromic ocular Stickler syndrome (609508), McAlinden et al. (2008) identified a heterozygous 192C-A transversion in exon 2 of the COL2A1 gene, resulting in a cys64-to-ter (C64X) substitution. In vitro studies using a minigene construct indicated that the C64X, C57Y (120140.0052), and W47X (120140.0050) mutations resulted in a splicing pattern change and a decreased ratio of IIA:IIB mRNA. The findings suggested that the mutations were present in functional cis regulatory elements in exon 2 that are important in regulating the mechanism of alternative splicing of this exon. McAlinden et al. (2008) postulated that the mutations did not result in nonsense-mediated decay and haploinsufficiency, but rather an altered mRNA splice ratio with effects limited to the eye. Absence of an extraocular phenotype in Stickler syndrome patients with mutations in exon 2 of COL2A1 may be due to sufficient production of isoform IIB by nonsense-mediated altered splicing. Since isoform IIA is expressed in adult ocular vitreous, the ocular phenotype may be due to inadequate amounts of isoform IIA in the mature eye. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0052 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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COL2A1, CYS57TYR
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<br />
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|
|
SNP: rs121912898,
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|
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|
|
|
ClinVar: RCV000018946
|
|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with nonsyndromic ocular Stickler syndrome (609508), McAlinden et al. (2008) identified a heterozygous 170G-A transition in exon 2 of the COL2A1 gene, resulting in a cys57-to-tyr (C57Y) substitution. </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>.0053 ACHONDROGENESIS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
COL2A1, GLY346VAL
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|
|
|
<br />
|
|
|
|
SNP: rs121912899,
|
|
|
|
|
|
|
|
ClinVar: RCV000022483
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 fetuses with lethal achondrogenesis type II (ACG2; 200610), conceived of a healthy, nonconsanguineous young couple, Forzano et al. (2007) identified heterozygosity for a 1037G-T transversion in exon 3 of the COL2A1 gene resulting in a gly346-to-val (G346V) substitution. An earlier born fetus had also had achondrogenesis type II. The father's blood DNA harbored a low mutation signal consistent with mosaicism. Additional DNA analyses of the father's fibroblasts, hair roots, buccal smear, and urine revealed weak mosaicism in all tissues. Forzano et al. (2007) stated that this was the first case of proven somatic mosaicism for a COL2A1 mutation that led to a lethal skeletal dysplasia in 4 offspring. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0054 AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, THR1383MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs138498898,
|
|
|
|
|
|
gnomAD: rs138498898,
|
|
|
|
|
|
ClinVar: RCV000022484, RCV000523016, RCV004532397
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 40-year-old man who was diagnosed with avascular necrosis of the femoral head (ANFH1; 608805) at 18 years of age, Kannu et al. (2011) identified heterozygosity for a 4148C-T transition in exon 51 of the COL2A1 gene, resulting in a thr1383-to-met (T1383M) substitution within the highly conserved C-propeptide region. The mutation was not found in unaffected family members or 150 age-, sex-, and ethnicity-matched controls. The patient had a normal skeletal survey, other than bilateral hip degeneration; he had no facial dysmorphism, and ophthalmologic and audiologic examinations were normal. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0055 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY207ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869312907,
|
|
|
|
|
|
|
|
ClinVar: RCV000210454, RCV001385339
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and daughter and an unrelated Korean boy with the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; 616583), Jurgens et al. (2015) identified heterozygosity for a c.619G-A transition (c.619G-A, NM_001844.4) in the COL2A1 gene, resulting in a gly207-to-arg (G207R) substitution at a conserved residue. The mutation was not present in the unaffected maternal grandmother from the first family; DNA from the maternal grandfather was unavailable. In the Korean family, the mutation was not present in either of the unaffected parents, indicating de novo occurrence in the proband. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0056 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, ASP1219HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs760093841,
|
|
|
|
|
|
gnomAD: rs760093841,
|
|
|
|
|
|
ClinVar: RCV000515452, RCV001269915
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 affected members of a 3-generation family with the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN; 616583), Hammarsjo et al. (2015) identified heterozygosity for a c.3655G-C transversion (c.3655G-C, NM_001844.4) in exon 51 of the COL2A1 gene, resulting in an asp1219-to-his (D1219H) substitution at a highly conserved residue within the carboxy-propeptide of the alpha I (II) procollagen chain. The mutation segregated with disease in the family and was not found in 249 exomes from a local ethnically mixed population or in the ExAC, 1000 Genomes Project, dbSNP (build 137), ESP6500, or Leiden Open Variation databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0057 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY861VAL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV005052125
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In an 8-year-old Japanese boy with the Algerian type of spondylometaphyseal dysplasia (SMDALG; 184253), Matsubayashi et al. (2013) identified heterozygosity for a c.2582G-T transversion in exon 39 of the COL2A1 gene, predicted to result in a gly861-to-val (G861V) substitution within the triple-helical domain. The mutation was not found in 50 Japanese controls or in the HGMC or SNP databases. </p></div>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0058 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL2A1, GLY1092ASP ({dbSNP rs794727684})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs794727684,
|
|
|
|
|
|
|
|
ClinVar: RCV000178624, RCV005055085
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In a 5-year-old Venezuelan boy with the Algerian type of spondylometaphyseal dysplasia (SMDALG; 184253), Cammarata-Scalisi et al. (2023) identified heterozygosity for a c.3275G-A transition in exon 47 of the COL2A1 gene, resulting in a gly1092-to-asp (G1092D) substitution within the triple-helical domain. The authors noted that the proband also carried an intronic variant of unclear significance (c.1366-13C-A; rs200984998) in the COL2A1 gene. DNA was unavailable from his unaffected nonconsanguineous parents for segregation analysis. The authors noted that the intronic variant was present in the 1000 Genomes Project Phase 3 database in heterozygous state in the Colombian population with a minor allele frequency of 0.011, and that the paternal grandparents of the proband were from Colombia. </p></div>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Eng and Strom (1985); Huerre-Jeanpierre et al. (1985); Kelly et al.
|
|
(1977); Law et al. (1985); Nunez et al. (1985); Sangiorgi et al.
|
|
(1985); Stoker et al. (1985); Strom et al. (1984); Sybert et al.
|
|
(1979); Sykes et al. (1985); Takahashi et al. (1990); Vanek (1983);
|
|
Yoo et al. (1983); Young et al. (1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Jimenez, S. A., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J.
|
|
<strong>Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).</strong>
|
|
Proc. Nat. Acad. Sci. 88: 6624-6627, 1991.
|
|
|
|
|
|
[PubMed: 1677770]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.88.15.6624]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J.
|
|
<strong>A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 47 (suppl.): A206 only, 1990.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ahmad, N. N., Dimascio, J., Knowlton, R. G., Tasman, W. S.
|
|
<strong>Stickler syndrome: a mutation in the nonhelical 3-prime end of type II procollagen gene.</strong>
|
|
Arch. Ophthal. 113: 1454-1457, 1995.
|
|
|
|
|
|
[PubMed: 7487609]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1995.01100110114034]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ahmad, N. N., McDonald-McGinn, D. M., Zackai, E. H., Knowlton, R. G., LaRossa, D., DiMascio, J., Prockop, D. J.
|
|
<strong>A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.</strong>
|
|
Am. J. Hum. Genet. 52: 39-45, 1993.
|
|
|
|
|
|
[PubMed: 8434604]
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., Prockop, D. J.
|
|
<strong>Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 6565-6568, 1990.
|
|
|
|
|
|
[PubMed: 1975693]
|
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.87.17.6565]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alexander, R. L., Shea, M.
|
|
<strong>Wagner's disease.</strong>
|
|
Arch. Ophthal. 74: 310-318, 1965.
|
|
|
|
|
|
[PubMed: 14338642]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1965.00970040312005]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baldwin, C. T., Reginato, A. M., Smith, C., Jimenez, S. A., Prockop, D. J.
|
|
<strong>Structure of cDNA clones coding for human type II procollagen: the alpha-1(II) chain is more similar to the alpha-1(I) chain than two other alpha chains of fibrillar collagens.</strong>
|
|
Biochem. J. 262: 521-528, 1989.
|
|
|
|
|
|
[PubMed: 2803268]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj2620521]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ballo, R., Beighton, P. H., Ramesar, R. S.
|
|
<strong>Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.</strong>
|
|
Am. J. Med. Genet. 80: 6-11, 1998.
|
|
|
|
|
|
[PubMed: 9800905]
|
|
|
|
|
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Zankl, A., Zabel, B., Hilbert, K., Wildhardt, G., Cuenot, S., Xavier, B., Ha-Vinh, R., Bonafe, L., Spranger, J., Superti-Furga, A.
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<strong>Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.</strong>
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<span class="text-nowrap mim-text-font">
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Contributors:
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/24/2025<br>Carol A. Bocchini - updated : 11/02/2022<br>Marla J. F. O'Neill - updated : 01/03/2018<br>Marla J. F. O'Neill - updated : 11/08/2017<br>Marla J. F. O'Neill - updated : 10/01/2015<br>Ada Hamosh - updated : 1/24/2014<br>Marla J. F. O'Neill - updated : 10/17/2011<br>Marla J. F. O'Neill - updated : 6/15/2011<br>Marla J. F. O'Neill - updated : 3/15/2011<br>Kelly A. Przylepa - updated : 4/17/2008<br>Kelly A. Przylepa - updated : 4/11/2008<br>Cassandra L. Kniffin - updated : 3/4/2008<br>Victor A. McKusick - updated : 6/13/2007<br>Victor A. McKusick - updated : 9/29/2006<br>Marla J. F. O'Neill - updated : 6/20/2006<br>Victor A. McKusick - updated : 2/14/2006<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Marla J. F. O'Neill - updated : 9/20/2005<br>Victor A. McKusick - updated : 6/17/2005<br>Marla J. F. O'Neill - updated : 10/7/2004<br>Victor A. McKusick - updated : 5/3/2004<br>Victor A. McKusick - updated : 4/14/2004<br>Victor A. McKusick - updated : 12/22/2003<br>Ada Hamosh - updated : 3/4/2003<br>Jane Kelly - updated : 9/10/2002<br>Sonja A. Rasmussen - updated : 7/10/2002<br>Victor A. McKusick - updated : 11/21/2000<br>Sonja A. Rasmussen - updated : 10/11/2000<br>Carol A. Bocchini - updated : 9/25/2000<br>Victor A. McKusick - updated : 3/17/2000<br>Victor A. McKusick - updated : 2/23/2000<br>Victor A. McKusick - updated : 7/20/1999<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/5/1999<br>Ada Hamosh - updated : 11/17/1998<br>Victor A. McKusick - updated : 8/13/1998<br>Victor A. McKusick - updated : 3/3/1998<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/13/1997<br>Victor A. McKusick - updated : 5/12/1997<br>Cynthia K. Ewing - updated : 10/14/1996<br>Lori M. Kelman - updated : 10/6/1996
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 01/24/2025<br>carol : 05/09/2024<br>carol : 11/02/2022<br>carol : 09/28/2022<br>carol : 05/06/2022<br>alopez : 04/04/2022<br>carol : 03/25/2021<br>carol : 08/07/2020<br>carol : 01/10/2020<br>carol : 08/15/2018<br>carol : 01/03/2018<br>carol : 11/08/2017<br>carol : 07/13/2017<br>carol : 05/16/2017<br>carol : 03/02/2017<br>carol : 10/01/2015<br>carol : 9/29/2015<br>carol : 9/15/2015<br>carol : 6/23/2015<br>alopez : 1/24/2014<br>carol : 2/5/2013<br>joanna : 2/1/2013<br>joanna : 2/1/2013<br>terry : 10/3/2012<br>carol : 9/24/2012<br>carol : 9/6/2012<br>terry : 8/22/2012<br>carol : 8/9/2012<br>carol : 10/18/2011<br>terry : 10/17/2011<br>carol : 9/14/2011<br>carol : 8/22/2011<br>carol : 8/5/2011<br>terry : 7/21/2011<br>carol : 7/20/2011<br>wwang : 6/16/2011<br>terry : 6/15/2011<br>terry : 3/16/2011<br>terry : 3/16/2011<br>carol : 3/15/2011<br>terry : 3/15/2011<br>terry : 3/10/2011<br>terry : 3/10/2011<br>terry : 3/9/2011<br>terry : 3/9/2011<br>carol : 3/7/2011<br>carol : 3/4/2011<br>terry : 11/16/2010<br>terry : 4/17/2008<br>carol : 4/11/2008<br>wwang : 3/19/2008<br>carol : 3/7/2008<br>ckniffin : 3/4/2008<br>carol : 6/15/2007<br>terry : 6/13/2007<br>alopez : 10/16/2006<br>alopez : 10/16/2006<br>terry : 9/29/2006<br>wwang : 9/7/2006<br>wwang : 6/21/2006<br>terry : 6/20/2006<br>terry : 3/23/2006<br>alopez : 2/27/2006<br>terry : 2/14/2006<br>wwang : 10/11/2005<br>terry : 10/3/2005<br>wwang : 9/26/2005<br>terry : 9/20/2005<br>alopez : 7/29/2005<br>alopez : 6/22/2005<br>terry : 6/17/2005<br>carol : 11/18/2004<br>carol : 10/11/2004<br>carol : 10/8/2004<br>terry : 10/7/2004<br>tkritzer : 6/23/2004<br>terry : 5/3/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>carol : 3/17/2004<br>tkritzer : 12/23/2003<br>terry : 12/22/2003<br>tkritzer : 12/18/2003<br>tkritzer : 12/18/2003<br>cwells : 3/4/2003<br>carol : 11/15/2002<br>alopez : 9/10/2002<br>carol : 7/10/2002<br>carol : 2/6/2002<br>alopez : 6/13/2001<br>terry : 3/21/2001<br>carol : 12/21/2000<br>carol : 12/13/2000<br>terry : 11/21/2000<br>mcapotos : 10/13/2000<br>mcapotos : 10/11/2000<br>carol : 9/25/2000<br>carol : 6/16/2000<br>carol : 4/21/2000<br>carol : 4/21/2000<br>alopez : 4/12/2000<br>mgross : 3/17/2000<br>alopez : 2/25/2000<br>alopez : 2/25/2000<br>terry : 2/23/2000<br>terry : 12/1/1999<br>jlewis : 8/2/1999<br>terry : 7/20/1999<br>terry : 7/20/1999<br>carol : 1/29/1999<br>carol : 1/29/1999<br>terry : 1/26/1999<br>terry : 1/26/1999<br>carol : 1/13/1999<br>terry : 1/5/1999<br>dkim : 12/9/1998<br>alopez : 11/18/1998<br>alopez : 11/17/1998<br>alopez : 11/17/1998<br>alopez : 9/29/1998<br>carol : 8/27/1998<br>carol : 8/14/1998<br>terry : 8/13/1998<br>terry : 6/18/1998<br>terry : 5/29/1998<br>alopez : 3/24/1998<br>alopez : 3/16/1998<br>terry : 3/3/1998<br>mark : 7/16/1997<br>mark : 7/15/1997<br>mark : 7/15/1997<br>terry : 6/23/1997<br>terry : 6/20/1997<br>mark : 5/13/1997<br>terry : 5/12/1997<br>terry : 1/17/1997<br>terry : 12/17/1996<br>jamie : 11/13/1996<br>jamie : 10/23/1996<br>jamie : 10/16/1996<br>jamie : 10/14/1996<br>mark : 10/6/1996<br>mark : 6/25/1996<br>terry : 6/14/1996<br>mark : 3/15/1996<br>mark : 3/15/1996<br>mark : 3/3/1996<br>mark : 3/3/1996<br>terry : 2/23/1996<br>mark : 3/31/1995<br>davew : 6/27/1994<br>jason : 6/24/1994<br>terry : 5/13/1994<br>mimadm : 4/13/1994<br>warfield : 4/7/1994
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