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Entry
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- *300485 - BCL6 COREPRESSOR; BCOR
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<p />
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300485</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<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="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/300485">Table View</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=ENSG00000183337;t=ENST00000378444" 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=54880" 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=300485" 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=ENSG00000183337;t=ENST00000378444" 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_001123383,NM_001123384,NM_001123385,NM_017745,XM_005272616,XM_005272618,XM_005272619,XM_005272620,XM_006724536,XM_011543929,XM_011543930,XM_011543931,XM_017029615,XM_017029616,XM_047442196,XM_047442197,XM_047442198,XM_047442199,XM_047442200,XM_047442201,XM_047442202,XM_047442203,XM_047442204,XM_047442205,XM_047442206,XM_047442207,XM_047442208,XM_047442209,XM_047442210,XM_047442211,XM_047442212,XM_047442213,XM_047442214,XM_047442215,XM_047442216,XM_047442217,XM_047442218,XM_047442219,XM_047442220,XM_047442221,XM_047442222,XM_047442223,XM_047442224,XM_047442225,XM_047442226,XM_047442227,XM_047442228" 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_001123385" 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=300485" 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=06458&isoform_id=06458_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/BCOR" 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/7020277,11907998,11908000,18676845,21071037,27529915,37231432,38018406,39645565,57012588,89130390,118763626,119579829,119579830,119579831,119579832,119579833,119579834,183396783,183396785,183396787,193787831,530421475,530421479,530421481,530421483,578838037,768033237,768033240,768033247,1034674612,1034674614,2217392846,2217392848,2217392851,2217392853,2217392855,2217392858,2217392860,2217392862,2217392864,2217392866,2217392868,2217392870,2217392872,2217392874,2217392876,2217392878,2217392880,2217392882,2217392884,2217392886,2217392888,2217392890,2217392892,2217392896,2217392898,2217392900,2217392902,2217392904,2217393009,2217393011,2217393013,2217393015,2217393017,2462629931,2462629933,2462629935,2462629937,2462629939,2462629941,2462629943,2462629945,2462629947,2462629949,2462629951,2462629953,2462629955,2462629957,2462629959,2462629961,2462629963,2462629965,2462629967,2462629969,2462629971,2462629973,2462629975,2462629977,2462629979,2462629981,2462629983,2462629985,2462629987,2462629989,2462629991,2462629993,2462629995,2462629997,2462629999,2462630001,2462630003,2462630005,2462630007,2462630009,2462630011,2462630013,2462630015" 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/Q6W2J9" 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=54880" 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=ENSG00000183337;t=ENST00000378444" 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=BCOR" 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=BCOR" 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+54880" 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/BCOR" 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:54880" 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/54880" 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=chrX&hgg_gene=ENST00000378444.9&hgg_start=40051246&hgg_end=40177329&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:20893" 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:20893" 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/bcor" 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=300485[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=300485[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/BCOR/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/ENSG00000183337" 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.gwascentral.org/search?q=BCOR" 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=BCOR" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/BCOR" 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=BCOR&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/PA134921737" 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:20893" 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://flybase.org/reports/FBgn0036814.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1918708" 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/BCOR#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:1918708" 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/54880/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=54880" 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-040408-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54880" 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=BCOR&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> 699300009<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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300485
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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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BCL6 COREPRESSOR; BCOR
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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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KIAA1575
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Other entities represented in this entry:
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<span class="h3 mim-font">
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BCOR/CCNB3 FUSION GENE, INCLUDED
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=BCOR" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BCOR</a></em></strong>
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Cytogenetic location: <a href="/geneMap/X/172?start=-3&limit=10&highlight=172">Xp11.4</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:40051246-40177329&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'})">X:40,051,246-40,177,329</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<a href="/geneMap/X/172?start=-3&limit=10&highlight=172">
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Xp11.4
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Microphthalmia, syndromic 2
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<span class="mim-font">
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<a href="/entry/300166"> 300166 </a>
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300485" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300485" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>The full-length BCOR protein functions as a corepressor for BCL6 (<a href="/entry/109565">109565</a>), a POZ/zinc finger transcriptional repressor that is required for germinal center formation and may influence apoptosis (<a href="#5" class="mim-tip-reference" title="Huynh, K. D., Fischle, W., Verdin, E., Bardwell, V. J. <strong>BCoR, a novel corepressor involved in BCL-6 repression.</strong> Genes Dev. 14: 1810-1823, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10898795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10898795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10898795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10898795">Huynh et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10898795" 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>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#8" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> cloned BCOR, which they designated KIAA1575. RT-PCR ELISA detected intermediate BCOR expression in adult liver, kidney, spinal cord, whole brain, and all specific brain regions examined, and in fetal liver. Expression was lower in adult heart, spleen, and ovary, and in fetal brain. Little to no expression was detected in testis, pancreas, lung, and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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>Using a yeast 2-hybrid screen to identify proteins that interact with the POZ domain of BCL6, <a href="#5" class="mim-tip-reference" title="Huynh, K. D., Fischle, W., Verdin, E., Bardwell, V. J. <strong>BCoR, a novel corepressor involved in BCL-6 repression.</strong> Genes Dev. 14: 1810-1823, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10898795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10898795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10898795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10898795">Huynh et al. (2000)</a> cloned BCOR from a mature B-cell line expression library. The deduced 1,721-amino acid protein contains 3 C-terminal tandem ankyrin repeats. An alternatively spliced variant, which they designated BCOR-S, encodes a deduced 1,004-amino acid protein that is identical to the longer variant up to amino acid 999, after which it has a unique 5-amino acid C terminus. BCOR-S does not contain the ankyrin repeats. Northern blot analysis using a probe unique to the longer BCOR variant detected transcripts of 6.5 and 7.0 kb in HeLa cells and the B-cell line, indicating the presence of a third variant. RNA dot blot analysis detected expression of BCOR in all tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10898795" 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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<br />
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Function</strong>
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<p><a href="#5" class="mim-tip-reference" title="Huynh, K. D., Fischle, W., Verdin, E., Bardwell, V. J. <strong>BCoR, a novel corepressor involved in BCL-6 repression.</strong> Genes Dev. 14: 1810-1823, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10898795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10898795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10898795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10898795">Huynh et al. (2000)</a> found that the full-length BCOR protein, but not BCOR-S, functioned as a corepressor when tethered to a promoter DNA element, and when overexpressed it potentiated BCL6 repression. Both BCOR variants associated with specific class I and II histone deacetylases (HDACs), suggesting that BCOR may functionally link these 2 classes of HDACs and that histone/protein deacetylation is a mechanism for BCOR-mediated repression. BCOR interacted selectively with the POZ domain of BCL6, but not with 8 other POZ proteins tested, including PLZF (<a href="/entry/176797">176797</a>). Interactions between the POZ domain of BCL6 and SMRT (<a href="/entry/600848">600848</a>), NCOR (<a href="/entry/600849">600849</a>), and BCOR were mutually exclusive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10898795" 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>Using a bacterial 2-hybrid system, <a href="#6" class="mim-tip-reference" title="Junco, S. E., Wang, R., Gaipa, J. C., Taylor, A. B., Schirf, V., Gearhart, M. D., Bardwell, V. J., Demeler, B., Hart, P. J., Kim, C. A. <strong>Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs.</strong> Structure 21: 665-671, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23523425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23523425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23523425[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.str.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23523425">Junco et al. (2013)</a> found that the C-terminal ubiquitin-like fold domains of PCGF1 (<a href="/entry/610231">610231</a>) and PCGF3 (<a href="/entry/617543">617543</a>) interacted with the C-terminal domains of BCOR and BCORL1 (<a href="/entry/300688">300688</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23523425" 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>Mapping</strong>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, <a href="#8" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> mapped the BCOR gene to the X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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="#1" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 6/21/2017."None>Gross (2017)</a> mapped the BCOR gene to chromosome Xp11.4 based on an alignment of the BCOR sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF317391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF317391</a>) with the genomic sequence (GRCh38).</p>
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<p><a href="#12" class="mim-tip-reference" title="Pierron, G., Tirode, F., Lucchesi, C., Reynaud, S., Ballet, S., Cohen-Gogo, S., Perrin, V., Coindre, J.-M., Delattre, O. <strong>A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.</strong> Nature Genet. 44: 461-466, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387997</a>] [<a href="https://doi.org/10.1038/ng.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387997">Pierron et al. (2012)</a> used high-throughput sequencing of cDNAs (RNA-seq) to investigate samples from individuals diagnosed with small round cell tumors of bone that lacked the canonical EWSR1/ETS translocation (<a href="/entry/133450">133450</a>). A new fusion was observed between BCOR and CCNB3 (<a href="/entry/300456">300456</a>) on the X chromosome. RNA-seq results were confirmed by RT-PCR and through cloning of the tumor-specific genomic translocation breakpoints. In total, 24 BCOR/CCNB3-positive tumors were identified among a series of 594 sarcoma cases. Gene profiling experiments indicated that BCOR/CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewing sarcoma. <a href="#12" class="mim-tip-reference" title="Pierron, G., Tirode, F., Lucchesi, C., Reynaud, S., Ballet, S., Cohen-Gogo, S., Perrin, V., Coindre, J.-M., Delattre, O. <strong>A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.</strong> Nature Genet. 44: 461-466, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387997</a>] [<a href="https://doi.org/10.1038/ng.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22387997">Pierron et al. (2012)</a> also showed that CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR/CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387997" 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 affected members of a family originally reported by <a href="#3" class="mim-tip-reference" title="Hoefnagel, D., Keenan, M. E., Allen, F. H. <strong>Heredofamilial bilateral anophthalmia.</strong> Arch. Ophthal. 69: 760-764, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13963827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13963827</a>] [<a href="https://doi.org/10.1001/archopht.1963.00960040766015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13963827">Hoefnagel et al. (1963)</a> and <a href="#11" class="mim-tip-reference" title="Ogunye, O. O., Murray, R. F., Jr., Osgood, T. <strong>Linkage studies in Lenz microphthalmia.</strong> Hum. Hered. 25: 493-500, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1225823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1225823</a>] [<a href="https://doi.org/10.1159/000152765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1225823">Ogunye et al. (1975)</a> with syndromic microphthalmia-2 (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a pro85-to-leu mutation in the BCOR gene (P85L; <a href="#0001">300485.0001</a>). Because of phenotypic overlap between the microphthalmia syndrome in this family and oculofaciocardiodental syndrome (OFCD; see <a href="/entry/300166">300166</a>), they sequenced BCOR in 10 affected females from 7 OFCD families and found different mutations in each of the 7 families (see <a href="#0002">300485.0002</a>-<a href="#0005">300485.0005</a>), all of which predicted premature stop codons. BCOR with either the P85L mutation or a mutation found in OFCD interacted with BCL6 and efficiently repressed transcription, indicating that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL6. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1225823+15004558+13963827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.-K., Korenke, G. C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. <strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong> Europ. J. Hum. Genet. 13: 563-569, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770227</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15770227">Horn et al. (2005)</a> identified deletions in the BCOR gene (<a href="#0006">300485.0006</a>-<a href="#0008">300485.0008</a>) in 3 unrelated patients with OFCD. However, they did not identify mutations in the BCOR gene in 3 patients with Lenz microphthalmia syndrome (<a href="/entry/309800">309800</a>) or in 5 patients with a phenotype similar to that disorder. The authors concluded that BCOR is the causative gene for OFCD, but is not the major gene involved in Lenz microphthalmia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770227" 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 34 female patients from 20 families with syndromic microphthalmia, <a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified heterozygous mutations in the BCOR gene (see, e.g., <a href="#0003">300485.0003</a>, and <a href="#0010">300485.0010</a>-<a href="#0012">300485.0012</a>). Three patients from 2 families were found to be mosaic; 1 of these patients was asymptomatic, whereas the other 2 exhibited a classic presentation. In addition, an unrelated boy with syndromic microphthalmia was hemizygous for the P85L mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 affected male individuals from a Japanese family with syndromic clinical anophthalmia, <a href="#13" class="mim-tip-reference" title="Suzumori, N., Kaname, T., Muramatsu, Y., Yanagi, K., Kumagai, K., Mizuno, S., Naritomi, K., Saitoh, S., Sugiura-Ogasawara, M. <strong>Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.</strong> J. Obstet. Gynaec. Res. 39: 1545-1547, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23815237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23815237</a>] [<a href="https://doi.org/10.1111/jog.12081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23815237">Suzumori et al. (2013)</a> identified hemizygosity for the P85L mutation in the BCOR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23815237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> cloned the zebrafish ortholog of BCOR and found that knockdown of the ortholog caused developmental perturbations of the eye, skeleton, and CNS consistent with the human disorders Lenz microphthalmia (<a href="/entry/309800">309800</a>) and OFCD syndrome, confirming that BCOR is a key transcriptional regulator during early embryogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" 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 6 affected males from a family with syndromic microphthalmia-2 (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a 254C-T transition in the BCOR gene, resulting in a pro85-to-leu (P85L) mutation. The mutation cosegregated with the disease in this family (lod = 2.46). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" 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 7-year-old boy with microphthalmia, narrow forehead, simple ears, atrial septal defect, multiple partial finger syndactyly, fifth-finger clinodactyly, radioulnar synostosis, mental retardation, and hypospadias, <a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified the P85L mutation in the BCOR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Japanese male half-sibs, with syndromic clinical anophthalmia, <a href="#13" class="mim-tip-reference" title="Suzumori, N., Kaname, T., Muramatsu, Y., Yanagi, K., Kumagai, K., Mizuno, S., Naritomi, K., Saitoh, S., Sugiura-Ogasawara, M. <strong>Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.</strong> J. Obstet. Gynaec. Res. 39: 1545-1547, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23815237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23815237</a>] [<a href="https://doi.org/10.1111/jog.12081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23815237">Suzumori et al. (2013)</a> identified the P85L mutation in the BCOR gene. The mother was a heterozygous carrier of P85L. The first boy died of cardiac defects at 6 months of age; in the second affected individual, underdevelopment of fetal eyes was evident on prenatal ultrasound, and analysis of cultured amniotic cells revealed the P85L mutation. The pregnancy was terminated at 19 weeks. Autopsy was declined, but examination confirmed clinical anophthalmia and showed depressed nasal bridge and simple ears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23815237" 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">rs1569146193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569146193;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=rs1569146193" 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=rs1569146193" 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=RCV000011659" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011659" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011659</a>
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<p>In a female from a family with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a G-to-T transition at position -1 of the splice acceptor site of intron 8 of the BCOR gene, which predicted a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" 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 MICROPHTHALMIA, SYNDROMIC 2</strong>
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BCOR, ARG976TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434619;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=rs121434619" 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=rs121434619" 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=RCV000011660" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011660" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011660</a>
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<p>In 3 affected females from a family with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a 2926C-T transition in the BCOR gene, resulting in an arg976-to-ter (R976X) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified this mutation in the mother and daughter reported by <a href="#7" class="mim-tip-reference" title="McGovern, E., Al-Mudaffer, M., McMahon, C., Brosnahan, D., Fleming, P., Reardon, W. <strong>Oculo-facio-cardio-dental syndrome in a mother and daughter.</strong> Int. J. Oral Maxillofac. Surg. 35: 1060-1062, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16829040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16829040</a>] [<a href="https://doi.org/10.1016/j.ijom.2006.05.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16829040">McGovern et al. (2006)</a> with oculofaciocardiodental syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19367324+16829040" 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="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 MICROPHTHALMIA, SYNDROMIC 2</strong>
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BCOR, 1-BP DEL, 3881A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1602124517 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602124517;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=rs1602124517" 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=rs1602124517" 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=RCV000011661" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011661" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011661</a>
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<span class="mim-text-font">
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<p>In 2 affected females from a family with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a 1-bp deletion in the BCOR gene, 3881delA, which predicted a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 MICROPHTHALMIA, SYNDROMIC 2</strong>
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</span>
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BCOR, EX9-15DEL
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011662" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011662" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011662</a>
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<p>In an affected female from a family with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#9" class="mim-tip-reference" title="Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G. <strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong> Nature Genet. 36: 411-416, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>] [<a href="https://doi.org/10.1038/ng1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004558">Ng et al. (2004)</a> identified a large deletion encompassing at least exons 9-15 of the BCOR gene, but not involving any other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4>
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<span class="mim-font">
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<strong>.0006 MICROPHTHALMIA, SYNDROMIC 2</strong>
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BCOR, 2-BP DEL, 2488AG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555918014 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555918014;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=rs1555918014" 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=rs1555918014" 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=RCV000011663 OR RCV000524073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011663, RCV000524073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011663...</a>
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<p>In a patient with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#4" class="mim-tip-reference" title="Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.-K., Korenke, G. C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. <strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong> Europ. J. Hum. Genet. 13: 563-569, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770227</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15770227">Horn et al. (2005)</a> identified a 2-bp deletion (2488_2489delAG) in exon 2 of the BCOR gene. The patient's mother did not carry the mutation, and the father was not available for testing. The deletion was not seen in 100 control X chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 MICROPHTHALMIA, SYNDROMIC 2</strong>
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BCOR, 1-BP DEL, 3286G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1602131169 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602131169;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=rs1602131169" 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=rs1602131169" 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=RCV000011664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011664</a>
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<p>In a patient with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#4" class="mim-tip-reference" title="Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.-K., Korenke, G. C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. <strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong> Europ. J. Hum. Genet. 13: 563-569, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770227</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15770227">Horn et al. (2005)</a> identified a 1-bp deletion (3286delG) in exon 7 of the BCOR gene. The parents were not available for testing, and the deletion was not identified in 100 control X chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770227" 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 patient with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#4" class="mim-tip-reference" title="Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.-K., Korenke, G. C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. <strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong> Europ. J. Hum. Genet. 13: 563-569, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770227</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15770227">Horn et al. (2005)</a> identified a partial, approximately 60-kb deletion in the paternally derived BCOR gene encompassing at least exons 2 to 15. The deletion was a de novo event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770227" 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> rs730880013 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880013;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/rs730880013?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=rs730880013" 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=rs730880013" 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=RCV000011666" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011666" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011666</a>
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<p>In a patient with oculofaciocardiodental syndrome (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#10" class="mim-tip-reference" title="Oberoi, S., Winder, A. E., Johnston, J., Vargervik, K., Slavotinek, A. M. <strong>Case reports of oculofaciocardiodental syndrome with unusual dental findings.</strong> Am. J. Med. Genet. 136A: 275-277, 2005. Note: Erratum: Am. J. Med. Genet: 139A: 54 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15957158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15957158</a>] [<a href="https://doi.org/10.1002/ajmg.a.30811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15957158">Oberoi et al. (2005)</a> described a 1-bp deletion (2613delC) in exon 4 of the BCOR gene, predicted to result in a frameshift with a premature protein termination (Phe871Leufs8Ter). (In the article by <a href="#10" class="mim-tip-reference" title="Oberoi, S., Winder, A. E., Johnston, J., Vargervik, K., Slavotinek, A. M. <strong>Case reports of oculofaciocardiodental syndrome with unusual dental findings.</strong> Am. J. Med. Genet. 136A: 275-277, 2005. Note: Erratum: Am. J. Med. Genet: 139A: 54 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15957158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15957158</a>] [<a href="https://doi.org/10.1002/ajmg.a.30811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15957158">Oberoi et al. (2005)</a>, this deletion is referred to as 2613delC in the abstract, discussion, and figure 4, but as 1315delC in the results.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15957158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000157080" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000157080" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000157080</a>
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<p>In twin sisters and the daughter of 1 of the twins, all with syndromic microphthalmia-2 (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified a large deletion in the BCOR gene, encompassing at least exons 4 through 15. The 27-year-old monozygotic twin sisters, who both presented a classic phenotype, were found to be somatic mosaic for the deletion; the deletion was non-mosaic in the 18-month-old daughter, who exhibited an overlapping array of features. Features common to all 3 included congenital cataract, microphthalmia, and syndactyly of the second and third toes. In addition, both twins had septate nasal cartilage, high nasal bridge, and a long, narrow face, whereas the daughter showed no facial dysmorphism. One of the twins had a ventricular septal defect, and the daughter had an atrial septal defect. The twins exhibited delayed dentition, persistent primary teeth, and root radiculomegaly; the daughter had delayed primary dentition. One of the twins also had scoliosis and radioulnar synostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000157081" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000157081" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000157081</a>
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<p>In a 14-month-old girl with classic features of syndromic microphthalmia-2 (MCOPS2; <a href="/entry/300166">300166</a>), <a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified a heterozygous deletion in the BCOR gene, encompassing exons 13 and 14. PCR amplification and sequencing refined the deletion to 1,410 bp (c.4742-141_4976+821del1410), spanning intron 12 to intron 14 and predicted to result in a premature termination codon (Asp1581GlyfsTer15). The proband's asymptomatic mother, who had a normal panoramic dental x-ray, was found to be mosaic for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367324" 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">rs730880034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880034;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=rs730880034" 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=rs730880034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a female patient with bilateral congenital cataract and unilateral microphthalmia, <a href="#2" class="mim-tip-reference" title="Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others. <strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong> Europ. J. Hum. Genet. 17: 1325-1335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19367324[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.2009.52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367324">Hilton et al. (2009)</a> identified heterozygosity for a 5-bp deletion in the BCOR gene (c.4303_4307delCCATG), causing a frameshift predicted to result in premature termination (Pro1435LeufsTer24). The proband's mother was reported to have a similar phenotype. Further investigation revealed that the proband had had numerous primary teeth removed in the teenage years and also exhibited syndactyly of the second and third toes, suggesting a mild oculofaciocardiodental phenotype (MCOPS2; <a href="/entry/300166">300166</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367324" 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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Gross, M. B.
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<strong>Personal Communication.</strong>
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[<a href="https://doi.org/10.1038/ejhg.2009.52" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1963.00960040766015" target="_blank">Full Text</a>]
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<strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong>
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[<a href="https://doi.org/10.1038/sj.ejhg.5201391" target="_blank">Full Text</a>]
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Junco, S. E., Wang, R., Gaipa, J. C., Taylor, A. B., Schirf, V., Gearhart, M. D., Bardwell, V. J., Demeler, B., Hart, P. J., Kim, C. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23523425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23523425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23523425[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=23523425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.str.2013.02.013" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ijom.2006.05.001" target="_blank">Full Text</a>]
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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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[<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank">Full Text</a>]
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Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G.
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<strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004558" 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/ng1321" target="_blank">Full Text</a>]
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Oberoi, S., Winder, A. E., Johnston, J., Vargervik, K., Slavotinek, A. M.
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<strong>Case reports of oculofaciocardiodental syndrome with unusual dental findings.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.30811" target="_blank">Full Text</a>]
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Ogunye, O. O., Murray, R. F., Jr., Osgood, T.
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<strong>Linkage studies in Lenz microphthalmia.</strong>
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[<a href="https://doi.org/10.1159/000152765" target="_blank">Full Text</a>]
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Pierron, G., Tirode, F., Lucchesi, C., Reynaud, S., Ballet, S., Cohen-Gogo, S., Perrin, V., Coindre, J.-M., Delattre, O.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22387997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22387997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22387997" 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/ng.1107" target="_blank">Full Text</a>]
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Suzumori, N., Kaname, T., Muramatsu, Y., Yanagi, K., Kumagai, K., Mizuno, S., Naritomi, K., Saitoh, S., Sugiura-Ogasawara, M.
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<strong>Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.</strong>
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J. Obstet. Gynaec. Res. 39: 1545-1547, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23815237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23815237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23815237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/jog.12081" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 06/21/2017
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Patricia A. Hartz - updated : 06/20/2017<br>Marla J. F. O'Neill - updated : 2/2/2015<br>Ada Hamosh - updated : 7/24/2012<br>Marla J. F. O'Neill - updated : 6/2/2006<br>Victor A. McKusick - updated : 9/21/2005<br>Cassandra L. Kniffin - updated : 5/18/2005<br>Marla J. F. O'Neill - updated : 3/22/2004
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Patricia A. Hartz : 3/15/2004
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mgross : 06/21/2017<br>carol : 06/20/2017<br>carol : 02/05/2015<br>alopez : 2/3/2015<br>mcolton : 2/2/2015<br>alopez : 8/1/2012<br>terry : 7/24/2012<br>carol : 5/10/2007<br>carol : 1/31/2007<br>carol : 6/2/2006<br>carol : 6/2/2006<br>carol : 6/1/2006<br>wwang : 11/22/2005<br>wwang : 10/21/2005<br>wwang : 10/12/2005<br>terry : 9/21/2005<br>wwang : 6/8/2005<br>wwang : 6/6/2005<br>ckniffin : 5/18/2005<br>alopez : 4/2/2004<br>tkritzer : 3/22/2004<br>tkritzer : 3/22/2004<br>mgross : 3/15/2004
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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> 300485
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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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BCL6 COREPRESSOR; BCOR
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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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KIAA1575
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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">
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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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BCOR/CCNB3 FUSION GENE, 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: BCOR</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> 699300009;
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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: Xp11.4
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Genomic coordinates <span class="small">(GRCh38)</span> : X:40,051,246-40,177,329 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xp11.4
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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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Microphthalmia, syndromic 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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300166
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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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X-linked dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The full-length BCOR protein functions as a corepressor for BCL6 (109565), a POZ/zinc finger transcriptional repressor that is required for germinal center formation and may influence apoptosis (Huynh et al., 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned BCOR, which they designated KIAA1575. RT-PCR ELISA detected intermediate BCOR expression in adult liver, kidney, spinal cord, whole brain, and all specific brain regions examined, and in fetal liver. Expression was lower in adult heart, spleen, and ovary, and in fetal brain. Little to no expression was detected in testis, pancreas, lung, and skeletal muscle. </p><p>Using a yeast 2-hybrid screen to identify proteins that interact with the POZ domain of BCL6, Huynh et al. (2000) cloned BCOR from a mature B-cell line expression library. The deduced 1,721-amino acid protein contains 3 C-terminal tandem ankyrin repeats. An alternatively spliced variant, which they designated BCOR-S, encodes a deduced 1,004-amino acid protein that is identical to the longer variant up to amino acid 999, after which it has a unique 5-amino acid C terminus. BCOR-S does not contain the ankyrin repeats. Northern blot analysis using a probe unique to the longer BCOR variant detected transcripts of 6.5 and 7.0 kb in HeLa cells and the B-cell line, indicating the presence of a third variant. RNA dot blot analysis detected expression of BCOR in all tissues examined. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Huynh et al. (2000) found that the full-length BCOR protein, but not BCOR-S, functioned as a corepressor when tethered to a promoter DNA element, and when overexpressed it potentiated BCL6 repression. Both BCOR variants associated with specific class I and II histone deacetylases (HDACs), suggesting that BCOR may functionally link these 2 classes of HDACs and that histone/protein deacetylation is a mechanism for BCOR-mediated repression. BCOR interacted selectively with the POZ domain of BCL6, but not with 8 other POZ proteins tested, including PLZF (176797). Interactions between the POZ domain of BCL6 and SMRT (600848), NCOR (600849), and BCOR were mutually exclusive. </p><p>Using a bacterial 2-hybrid system, Junco et al. (2013) found that the C-terminal ubiquitin-like fold domains of PCGF1 (610231) and PCGF3 (617543) interacted with the C-terminal domains of BCOR and BCORL1 (300688). </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>By radiation hybrid analysis, Nagase et al. (2000) mapped the BCOR gene to the X chromosome. </p><p>Gross (2017) mapped the BCOR gene to chromosome Xp11.4 based on an alignment of the BCOR sequence (GenBank AF317391) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<span class="mim-text-font">
|
|
<p>Pierron et al. (2012) used high-throughput sequencing of cDNAs (RNA-seq) to investigate samples from individuals diagnosed with small round cell tumors of bone that lacked the canonical EWSR1/ETS translocation (133450). A new fusion was observed between BCOR and CCNB3 (300456) on the X chromosome. RNA-seq results were confirmed by RT-PCR and through cloning of the tumor-specific genomic translocation breakpoints. In total, 24 BCOR/CCNB3-positive tumors were identified among a series of 594 sarcoma cases. Gene profiling experiments indicated that BCOR/CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewing sarcoma. Pierron et al. (2012) also showed that CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR/CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells. </p>
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|
</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family originally reported by Hoefnagel et al. (1963) and Ogunye et al. (1975) with syndromic microphthalmia-2 (MCOPS2; 300166), Ng et al. (2004) identified a pro85-to-leu mutation in the BCOR gene (P85L; 300485.0001). Because of phenotypic overlap between the microphthalmia syndrome in this family and oculofaciocardiodental syndrome (OFCD; see 300166), they sequenced BCOR in 10 affected females from 7 OFCD families and found different mutations in each of the 7 families (see 300485.0002-300485.0005), all of which predicted premature stop codons. BCOR with either the P85L mutation or a mutation found in OFCD interacted with BCL6 and efficiently repressed transcription, indicating that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL6. </p><p>Horn et al. (2005) identified deletions in the BCOR gene (300485.0006-300485.0008) in 3 unrelated patients with OFCD. However, they did not identify mutations in the BCOR gene in 3 patients with Lenz microphthalmia syndrome (309800) or in 5 patients with a phenotype similar to that disorder. The authors concluded that BCOR is the causative gene for OFCD, but is not the major gene involved in Lenz microphthalmia syndrome. </p><p>In 34 female patients from 20 families with syndromic microphthalmia, Hilton et al. (2009) identified heterozygous mutations in the BCOR gene (see, e.g., 300485.0003, and 300485.0010-300485.0012). Three patients from 2 families were found to be mosaic; 1 of these patients was asymptomatic, whereas the other 2 exhibited a classic presentation. In addition, an unrelated boy with syndromic microphthalmia was hemizygous for the P85L mutation. </p><p>In 2 affected male individuals from a Japanese family with syndromic clinical anophthalmia, Suzumori et al. (2013) identified hemizygosity for the P85L mutation in the BCOR gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ng et al. (2004) cloned the zebrafish ortholog of BCOR and found that knockdown of the ortholog caused developmental perturbations of the eye, skeleton, and CNS consistent with the human disorders Lenz microphthalmia (309800) and OFCD syndrome, confirming that BCOR is a key transcriptional regulator during early embryogenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BCOR, PRO85LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434618,
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|
|
|
|
gnomAD: rs121434618,
|
|
|
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|
|
ClinVar: RCV000011658, RCV001545250
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 affected males from a family with syndromic microphthalmia-2 (MCOPS2; 300166), Ng et al. (2004) identified a 254C-T transition in the BCOR gene, resulting in a pro85-to-leu (P85L) mutation. The mutation cosegregated with the disease in this family (lod = 2.46). </p><p>In a 7-year-old boy with microphthalmia, narrow forehead, simple ears, atrial septal defect, multiple partial finger syndactyly, fifth-finger clinodactyly, radioulnar synostosis, mental retardation, and hypospadias, Hilton et al. (2009) identified the P85L mutation in the BCOR gene. </p><p>In 2 Japanese male half-sibs, with syndromic clinical anophthalmia, Suzumori et al. (2013) identified the P85L mutation in the BCOR gene. The mother was a heterozygous carrier of P85L. The first boy died of cardiac defects at 6 months of age; in the second affected individual, underdevelopment of fetal eyes was evident on prenatal ultrasound, and analysis of cultured amniotic cells revealed the P85L mutation. The pregnancy was terminated at 19 weeks. Autopsy was declined, but examination confirmed clinical anophthalmia and showed depressed nasal bridge and simple ears. </p>
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|
</span>
|
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</div>
|
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|
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|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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BCOR, IVS8AS, G-T, -1
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<br />
|
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|
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SNP: rs1569146193,
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ClinVar: RCV000011659
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</span>
|
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</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female from a family with oculofaciocardiodental syndrome (MCOPS2; 300166), Ng et al. (2004) identified a G-to-T transition at position -1 of the splice acceptor site of intron 8 of the BCOR gene, which predicted a premature stop codon. </p>
|
|
</span>
|
|
</div>
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|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MICROPHTHALMIA, SYNDROMIC 2</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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BCOR, ARG976TER
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<br />
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|
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SNP: rs121434619,
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ClinVar: RCV000011660
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</span>
|
|
</div>
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected females from a family with oculofaciocardiodental syndrome (MCOPS2; 300166), Ng et al. (2004) identified a 2926C-T transition in the BCOR gene, resulting in an arg976-to-ter (R976X) mutation. </p><p>Hilton et al. (2009) identified this mutation in the mother and daughter reported by McGovern et al. (2006) with oculofaciocardiodental syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BCOR, 1-BP DEL, 3881A
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|
|
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<br />
|
|
|
|
SNP: rs1602124517,
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|
|
|
|
|
|
ClinVar: RCV000011661
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected females from a family with oculofaciocardiodental syndrome (MCOPS2; 300166), Ng et al. (2004) identified a 1-bp deletion in the BCOR gene, 3881delA, which predicted a premature stop codon. </p>
|
|
</span>
|
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</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>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MICROPHTHALMIA, SYNDROMIC 2</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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BCOR, EX9-15DEL
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<br />
|
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|
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ClinVar: RCV000011662
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</span>
|
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</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an affected female from a family with oculofaciocardiodental syndrome (MCOPS2; 300166), Ng et al. (2004) identified a large deletion encompassing at least exons 9-15 of the BCOR gene, but not involving any other genes. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 MICROPHTHALMIA, SYNDROMIC 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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BCOR, 2-BP DEL, 2488AG
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<br />
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SNP: rs1555918014,
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ClinVar: RCV000011663, RCV000524073
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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 oculofaciocardiodental syndrome (MCOPS2; 300166), Horn et al. (2005) identified a 2-bp deletion (2488_2489delAG) in exon 2 of the BCOR gene. The patient's mother did not carry the mutation, and the father was not available for testing. The deletion was not seen in 100 control X chromosomes. </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>.0007 MICROPHTHALMIA, SYNDROMIC 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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BCOR, 1-BP DEL, 3286G
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<br />
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SNP: rs1602131169,
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ClinVar: RCV000011664
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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 oculofaciocardiodental syndrome (MCOPS2; 300166), Horn et al. (2005) identified a 1-bp deletion (3286delG) in exon 7 of the BCOR gene. The parents were not available for testing, and the deletion was not identified in 100 control X chromosomes. </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>.0008 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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BCOR, 60-KB DEL
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<br />
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ClinVar: RCV000011665
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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 patient with oculofaciocardiodental syndrome (MCOPS2; 300166), Horn et al. (2005) identified a partial, approximately 60-kb deletion in the paternally derived BCOR gene encompassing at least exons 2 to 15. The deletion was a de novo event. </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>.0009 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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BCOR, 1-BP DEL, 2613C
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<br />
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SNP: rs730880013,
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gnomAD: rs730880013,
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ClinVar: RCV000011666
|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with oculofaciocardiodental syndrome (MCOPS2; 300166), Oberoi et al. (2005) described a 1-bp deletion (2613delC) in exon 4 of the BCOR gene, predicted to result in a frameshift with a premature protein termination (Phe871Leufs8Ter). (In the article by Oberoi et al. (2005), this deletion is referred to as 2613delC in the abstract, discussion, and figure 4, but as 1315delC in the results.) </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
BCOR, EX4-15DEL
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<br />
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|
|
ClinVar: RCV000157080
|
|
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|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In twin sisters and the daughter of 1 of the twins, all with syndromic microphthalmia-2 (MCOPS2; 300166), Hilton et al. (2009) identified a large deletion in the BCOR gene, encompassing at least exons 4 through 15. The 27-year-old monozygotic twin sisters, who both presented a classic phenotype, were found to be somatic mosaic for the deletion; the deletion was non-mosaic in the 18-month-old daughter, who exhibited an overlapping array of features. Features common to all 3 included congenital cataract, microphthalmia, and syndactyly of the second and third toes. In addition, both twins had septate nasal cartilage, high nasal bridge, and a long, narrow face, whereas the daughter showed no facial dysmorphism. One of the twins had a ventricular septal defect, and the daughter had an atrial septal defect. The twins exhibited delayed dentition, persistent primary teeth, and root radiculomegaly; the daughter had delayed primary dentition. One of the twins also had scoliosis and radioulnar synostosis. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
BCOR, EX13-14DEL
|
|
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|
|
<br />
|
|
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|
|
ClinVar: RCV000157081
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-month-old girl with classic features of syndromic microphthalmia-2 (MCOPS2; 300166), Hilton et al. (2009) identified a heterozygous deletion in the BCOR gene, encompassing exons 13 and 14. PCR amplification and sequencing refined the deletion to 1,410 bp (c.4742-141_4976+821del1410), spanning intron 12 to intron 14 and predicted to result in a premature termination codon (Asp1581GlyfsTer15). The proband's asymptomatic mother, who had a normal panoramic dental x-ray, was found to be mosaic for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MICROPHTHALMIA, SYNDROMIC 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
BCOR, 5-BP DEL, 4303CCATG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880034,
|
|
|
|
|
|
|
|
ClinVar: RCV000157082
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with bilateral congenital cataract and unilateral microphthalmia, Hilton et al. (2009) identified heterozygosity for a 5-bp deletion in the BCOR gene (c.4303_4307delCCATG), causing a frameshift predicted to result in premature termination (Pro1435LeufsTer24). The proband's mother was reported to have a similar phenotype. Further investigation revealed that the proband had had numerous primary teeth removed in the teenage years and also exhibited syndactyly of the second and third toes, suggesting a mild oculofaciocardiodental phenotype (MCOPS2; 300166). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 6/21/2017.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., and 25 others.
|
|
<strong>BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.</strong>
|
|
Europ. J. Hum. Genet. 17: 1325-1335, 2009.
|
|
|
|
|
|
[PubMed: 19367324]
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|
|
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|
|
[Full Text: https://doi.org/10.1038/ejhg.2009.52]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hoefnagel, D., Keenan, M. E., Allen, F. H.
|
|
<strong>Heredofamilial bilateral anophthalmia.</strong>
|
|
Arch. Ophthal. 69: 760-764, 1963.
|
|
|
|
|
|
[PubMed: 13963827]
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|
|
[Full Text: https://doi.org/10.1001/archopht.1963.00960040766015]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G.-K., Korenke, G. C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K.
|
|
<strong>Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.</strong>
|
|
Europ. J. Hum. Genet. 13: 563-569, 2005.
|
|
|
|
|
|
[PubMed: 15770227]
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|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5201391]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Huynh, K. D., Fischle, W., Verdin, E., Bardwell, V. J.
|
|
<strong>BCoR, a novel corepressor involved in BCL-6 repression.</strong>
|
|
Genes Dev. 14: 1810-1823, 2000.
|
|
|
|
|
|
[PubMed: 10898795]
|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Junco, S. E., Wang, R., Gaipa, J. C., Taylor, A. B., Schirf, V., Gearhart, M. D., Bardwell, V. J., Demeler, B., Hart, P. J., Kim, C. A.
|
|
<strong>Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs.</strong>
|
|
Structure 21: 665-671, 2013.
|
|
|
|
|
|
[PubMed: 23523425]
|
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|
|
[Full Text: https://doi.org/10.1016/j.str.2013.02.013]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
McGovern, E., Al-Mudaffer, M., McMahon, C., Brosnahan, D., Fleming, P., Reardon, W.
|
|
<strong>Oculo-facio-cardio-dental syndrome in a mother and daughter.</strong>
|
|
Int. J. Oral Maxillofac. Surg. 35: 1060-1062, 2006.
|
|
|
|
|
|
[PubMed: 16829040]
|
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|
|
[Full Text: https://doi.org/10.1016/j.ijom.2006.05.001]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 273-281, 2000.
|
|
|
|
|
|
[PubMed: 10997877]
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|
|
[Full Text: https://doi.org/10.1093/dnares/7.4.271]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., van der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell,. V. J., Black, G. C. M., Biesecker, L. G.
|
|
<strong>Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.</strong>
|
|
Nature Genet. 36: 411-416, 2004.
|
|
|
|
|
|
[PubMed: 15004558]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1321]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Oberoi, S., Winder, A. E., Johnston, J., Vargervik, K., Slavotinek, A. M.
|
|
<strong>Case reports of oculofaciocardiodental syndrome with unusual dental findings.</strong>
|
|
Am. J. Med. Genet. 136A: 275-277, 2005. Note: Erratum: Am. J. Med. Genet: 139A: 54 only, 2005.
|
|
|
|
|
|
[PubMed: 15957158]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30811]
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|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Ogunye, O. O., Murray, R. F., Jr., Osgood, T.
|
|
<strong>Linkage studies in Lenz microphthalmia.</strong>
|
|
Hum. Hered. 25: 493-500, 1975.
|
|
|
|
|
|
[PubMed: 1225823]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000152765]
|
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|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Pierron, G., Tirode, F., Lucchesi, C., Reynaud, S., Ballet, S., Cohen-Gogo, S., Perrin, V., Coindre, J.-M., Delattre, O.
|
|
<strong>A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.</strong>
|
|
Nature Genet. 44: 461-466, 2012.
|
|
|
|
|
|
[PubMed: 22387997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.1107]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzumori, N., Kaname, T., Muramatsu, Y., Yanagi, K., Kumagai, K., Mizuno, S., Naritomi, K., Saitoh, S., Sugiura-Ogasawara, M.
|
|
<strong>Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.</strong>
|
|
J. Obstet. Gynaec. Res. 39: 1545-1547, 2013.
|
|
|
|
|
|
[PubMed: 23815237]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/jog.12081]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 06/21/2017<br>Patricia A. Hartz - updated : 06/20/2017<br>Marla J. F. O'Neill - updated : 2/2/2015<br>Ada Hamosh - updated : 7/24/2012<br>Marla J. F. O'Neill - updated : 6/2/2006<br>Victor A. McKusick - updated : 9/21/2005<br>Cassandra L. Kniffin - updated : 5/18/2005<br>Marla J. F. O'Neill - updated : 3/22/2004
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
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