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- *601607 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
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<div id="mimAlertBanner">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601607</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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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>
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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="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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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/601607">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=ENSG00000099956;t=ENST00000644036" 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=6598" 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=601607" 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=ENSG00000099956;t=ENST00000644036" 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_001007468,NM_001317946,NM_001362877,NM_003073" 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_003073" 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=601607" 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=03364&isoform_id=03364_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/SMARCB1" 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/3326993,4128023,4128025,10436280,27545326,28912156,28912158,28912160,31338810,45685665,47678693,51338799,55956801,77744393,109658936,119580009,119580010,119580011,119580012,193785598,194383316,194387960,219520358,962305318,1385123353" 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/Q12824" 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=6598" 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=ENSG00000099956;t=ENST00000644036" 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=SMARCB1" 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=SMARCB1" 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+6598" 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/SMARCB1" 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:6598" 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/6598" 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=chr22&hgg_gene=ENST00000644036.2&hgg_start=23786966&hgg_end=23838009&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:11103" 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:11103" 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/smarcb1" 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=601607[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=601607[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/SMARCB1/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/ENSG00000099956" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SMARCB1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SMARCB1" 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=SMARCB1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SMARCB1&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/PA35953" 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:11103" 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/FBgn0011715.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:1328366" 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/SMARCB1#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:1328366" 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/6598/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=6598" 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://wormbase.org/db/gene/gene?name=WBGene00011111;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041114-5" 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:6598" 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=SMARCB1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601607
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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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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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SNF5, YEAST, HOMOLOG OF; SNF5<br />
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INTEGRASE INTERACTOR 1; INI1<br />
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MALIGNANT RHABDOID TUMOR SUPPRESSOR
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SMARCB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SMARCB1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/22/103?start=-3&limit=10&highlight=103">22q11.23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:23786966-23838009&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'})">22:23,786,966-23,838,009</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=609322,162091,614608,609322" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
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|
Inheritance
|
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</th>
|
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<th>
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/103?start=-3&limit=10&highlight=103">
|
|
22q11.23
|
|
</a>
|
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</span>
|
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</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
{Rhabdoid tumor predisposition syndrome 1}
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/609322"> 609322 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<p><a href="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> identified the SMARCB1 gene, which they called SNF5/INI1, within a region frequently deleted in malignant rhabdoid tumors (MRT). By RT-PCR, they cloned SNF5/INI1. The deduced 385-amino acid protein has a C-terminal domain similar to yeast Snf5, which includes a repeated peptide sequence and possible C-terminal coiled-coil structure. Use of a cryptic splice donor site in exon 2 results in a SNF5/INI1 protein lacking a short peptide sequence in its N-terminal region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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="#19" class="mim-tip-reference" title="Turelli, P., Doucas, V., Craig, E., Mangeat, B., Klages, N., Evans, R., Kalpana, G., Trono, D. <strong>Cytoplasmic recruitment of INI1 and PML on incoming HIV preintegration complexes: interference with early steps of viral replication.</strong> Molec. Cell 7: 1245-1254, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11430827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11430827</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00255-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11430827">Turelli et al. (2001)</a> showed that incoming retroviral preintegration complexes trigger the exportin (<a href="/entry/602559">602559</a>)-mediated cytoplasmic export of the SWI/SNF component INI1 and of the nuclear body constituent PML (<a href="/entry/102578">102578</a>). They further showed that the human immunodeficiency virus (HIV) genome associates with these proteins before nuclear migration. In the presence of arsenic, PML was sequestered in the nucleus, and the efficiency of HIV-mediated transduction was markedly increased. These results unveiled an unsuspected cellular response that interferes with the early steps of HIV replication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11430827" 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="#24" class="mim-tip-reference" title="Wu, D. Y., Tkachuck, D. C., Roberson, R. S., Schubach, W. H. <strong>The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity.</strong> J. Biol. Chem. 277: 27706-27715, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12016208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12016208</a>] [<a href="https://doi.org/10.1074/jbc.M200955200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12016208">Wu et al. (2002)</a> noted that GADD34 (PPP1R15A; <a href="/entry/611048">611048</a>) and SNF5 can coexist in a trimeric complex with chimeric leukemic HRX (MLL; <a href="/entry/159555">159555</a>) fusion proteins, leading to inhibition of GADD34-mediated apoptosis. By mutation analysis, they showed that the GADD34 region homologous to the HSV-1 ICP34.5 protein was necessary for interaction with SNF5. SNF5 could bind independently with the protein phosphatase-1 (PP1) catalytic subunit (PPP1CA; <a href="/entry/176875">176875</a>) and stimulate its activity in solution and in complex with GADD34. SNF5 and PP1 did not compete for GADD34 binding, but rather formed a stable trimeric complex with GADD34. <a href="#24" class="mim-tip-reference" title="Wu, D. Y., Tkachuck, D. C., Roberson, R. S., Schubach, W. H. <strong>The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity.</strong> J. Biol. Chem. 277: 27706-27715, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12016208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12016208</a>] [<a href="https://doi.org/10.1074/jbc.M200955200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12016208">Wu et al. (2002)</a> proposed that GADD34 mediates growth suppression, at least in part, through its interaction with SNF5. They suggested that SNF5 may function as a regulatory subunit of PP1, either independently or together with GADD34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12016208" 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="#22" class="mim-tip-reference" title="Vries, R. G. J., Bezrookove, V., Zuijderduijn, L. M. P., Kia, S. K., Houweling, A., Oruetxebarria, I., Raap, A. K., Verrijzer, C. P. <strong>Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint.</strong> Genes Dev. 19: 665-670, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15769941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15769941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15769941[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/10.1101/gad.335805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15769941">Vries et al. (2005)</a> found that loss of SNF5 function in malignant rhabdoid tumor-derived cells led to polyploidy and chromosomal instability. Reexpression of SNF5 restored the coupling between cell cycle progression and ploidy checkpoints. In contrast, cancer-associated SNF5 mutations exacerbated poly- and aneuploidization by abrogating chromosome segregation. <a href="#22" class="mim-tip-reference" title="Vries, R. G. J., Bezrookove, V., Zuijderduijn, L. M. P., Kia, S. K., Houweling, A., Oruetxebarria, I., Raap, A. K., Verrijzer, C. P. <strong>Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint.</strong> Genes Dev. 19: 665-670, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15769941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15769941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15769941[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/10.1101/gad.335805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15769941">Vries et al. (2005)</a> found that loss of SNF5 function caused elevated levels of MAD2 (MAD2L1; <a href="/entry/601467">601467</a>) due to unregulated E2F1 (<a href="/entry/189971">189971</a>) activity, which can be sufficient to cause defective spindle checkpoint. They concluded that SNF5 exerts ploidy control through a pathway that includes p16(INK4a) (CDKN2A; <a href="/entry/600160">600160</a>), cyclin D (see <a href="/entry/168461">168461</a>), CDK4 (<a href="/entry/123829">123829</a>), RB1 (<a href="/entry/614041">614041</a>), and E2F. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15769941" 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 mass spectrometry, immunoprecipitation, and chromatin immunoprecipitation analysis, <a href="#6" class="mim-tip-reference" title="Jagani, Z., Mora-Blanco, E. L., Sansam, C. G., McKenna, E. S., Wilson, B., Chen, D., Klekota, J., Tamayo, P., Nguyen, P. T. L., Tolstorukov, M., Park, P. J., Cho, Y.-J., and 13 others. <strong>Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.</strong> Nature Med. 16: 1429-1433, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076395</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21076395[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/nm.2251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21076395">Jagani et al. (2010)</a> found that mouse Snf5 interacted with Gli (<a href="/entry/165220">165220</a>) at Gli-responsive promoters, including the Gli promoter itself. Knockdown of Snf5 in mouse embryonic fibroblasts increased expression of Gli and Gli-responsive genes, notably those of the hedgehog pathway (see SHH; <a href="/entry/600725">600725</a>). Conversely, expression of SNF5 in SNF5-deficient human cells reduced GLI expression. Microarray analysis revealed that primary human tumors with reduced SNF5 expression showed enriched expression of genes associated with hedgehog pathway activation and GLI overexpression. Knockdown studies also showed that GLI was required for proliferation of SNF5-deficient human cells. <a href="#6" class="mim-tip-reference" title="Jagani, Z., Mora-Blanco, E. L., Sansam, C. G., McKenna, E. S., Wilson, B., Chen, D., Klekota, J., Tamayo, P., Nguyen, P. T. L., Tolstorukov, M., Park, P. J., Cho, Y.-J., and 13 others. <strong>Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.</strong> Nature Med. 16: 1429-1433, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076395</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21076395[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/nm.2251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21076395">Jagani et al. (2010)</a> concluded that SNF5 is a negative regulator of GLI-hedgehog signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21076395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By reexpression of SMARCB1 in brain and kidney rhabdoid cell lines and in Smarcb1-null mouse embryonic fibroblasts, <a href="#23" class="mim-tip-reference" title="Wang, X., Lee, R. S., Alver, B. H., Haswell, J. R., Wang, S., Mieczkowski, J., Drier, Y., Gillespie, S. M., Archer, T. C., Wu, J. N., Tzvetkov, E. P., Troisi, E. C., Pomeroy, S. L., Biegel, J. A., Tolstorukov, M. Y., Bernstein, B. E., Park. P. J., Roberts, C. W. M. <strong>SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.</strong> Nature Genet. 49: 289-295, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941797</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27941797[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27941797">Wang et al. (2017)</a> found that SMARCB1 increased the number of SWI-SNF complexes and increased protein levels of numerous SWI/SNF subunits, particularly ARID1A (<a href="/entry/603024">603024</a>) and ARID1B (<a href="/entry/614556">614556</a>). Chromatin immunoprecipitation analysis showed that reexpression of SMARCB1 also increased chromatin occupancy by SMARCA4 (<a href="/entry/603254">603254</a>) and SMARCC1 (<a href="/entry/601732">601732</a>). With or without SMARCB1, SWI/SNF complexes predominantly targeted enhancers distal to transcriptional start sites, with the number of sites markedly increased in the presence of SMARCB1. <a href="#23" class="mim-tip-reference" title="Wang, X., Lee, R. S., Alver, B. H., Haswell, J. R., Wang, S., Mieczkowski, J., Drier, Y., Gillespie, S. M., Archer, T. C., Wu, J. N., Tzvetkov, E. P., Troisi, E. C., Pomeroy, S. L., Biegel, J. A., Tolstorukov, M. Y., Bernstein, B. E., Park. P. J., Roberts, C. W. M. <strong>SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.</strong> Nature Genet. 49: 289-295, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941797</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27941797[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27941797">Wang et al. (2017)</a> concluded that SMARCB1 stabilizes SWI/SNF complexes at enhancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27941797" 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="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> found that the SMARCB1 gene contains 9 exons and spans approximately 50 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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="#4" class="mim-tip-reference" title="He, S., Wu, Z., Tian, Y., Yu, Z., Yu, J., Wang, X., Li, J., Liu, B., Xu, Y. <strong>Structure of nucleosome-bound human BAF complex.</strong> Science 367: 875-881, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32001526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32001526</a>] [<a href="https://doi.org/10.1126/science.aaz9761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32001526">He et al. (2020)</a> reported the 3.7-angstrom resolution cryoelectron microscopy structure of human BRG1 (SMARCA4; <a href="/entry/603254">603254</a>)/BRM-associated factor complex bound to the nucleosome. The structure revealed that the nucleosome is sandwiched by the base and the ATPase modules, which are bridged by the actin-related protein (ARP) module, composed of an ACTL6A (<a href="/entry/604958">604958</a>)-ACTB (<a href="/entry/102630">102630</a>) heterodimer and the long alpha helix of the helicase-SANT-associated region (HSA) of SMARCA4. The ATPase motor is positioned proximal to nucleosomal DNA and, upon ATP hydrolysis, engages with and pumps DNA along the nucleosome. The C-terminal alpha helix of SMARCB1, enriched in positively charged residues frequently mutated in cancers, mediates interactions with an acidic patch of the nucleosome. ARID1A (<a href="/entry/603024">603024</a>) and the SWI/SNF complex subunit SMARCC (<a href="/entry/601732">601732</a>) serve as a structural core and scaffold in the base module organization, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32001526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The SMARCB1 gene maps to chromosome 22q11.2 (<a href="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> mapped the most frequently deleted part of chromosome 22q11.2 from a panel of 13 cell lines from malignant rhabdoid tumors (MRT, see <a href="/entry/609322">609322</a>) and observed 6 homozygous deletions that delineated the smallest region of overlap, which fell in the region of the SNF5/INI1 gene. Analysis of 12 of these lines showed somatic frameshift or nonsense mutations in the SMARCB1 gene (see, e.g., <a href="#0001">601607.0001</a>; <a href="#0002">601607.0002</a>). All were associated with loss of heterozygosity (LOH) at the other allele, consistent with the 2-hit recessive model of oncogenesis and consistent with the hypothesis that SNF5/INI1 is the MRT tumor suppressor gene. <a href="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> noted that the SWI/SNF complexes, which have been identified in organisms from yeast to humans, are thought to be important in the remodeling of chromatin structure, and the authors concluded that altered chromatin organization at specific DNA sites may be crucial in the process of oncogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Sevenet, N., Lellouch-Tubiana, A., Schofield, D., Hoang-Xuan, K., Gessler, M., Birnbaum, D., Jeanpierre, C., Jouvet, A., Delattre, O. <strong>Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.</strong> Hum. Molec. Genet. 8: 2359-2368, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556283</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556283">Sevenet et al. (1999)</a> sought SNF5/INI1 mutations in 229 tumors of various origins using a screening method based on denaturing high-performance liquid chromatography. A total of 31 homozygous deletions and 36 point alterations were identified. Point mutations were scattered along the coding sequence and included nonsense (15), frameshift (15), splice site (3), missense (2), and editing (1) mutations. Mutations were retrieved in most rhabdoid tumors, whatever their sites of origin, indicating the common pathogenetic origin of these tumors. Recurrent SNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors and medulloblastomas. In contrast, SNF5/INI1 point mutations were not detected in breast cancers, Wilms tumors, gliomas, ependymomas, sarcomas, and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci. Thus, SNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers occurring mainly in young children and frequently, but not always, exhibiting a rhabdoid phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Schmitz, U., Mueller, W., Weber, M., Sevenet, N., Delattre, O., von Deimling, A. <strong>INI1 mutations in meningiomas at a potential hotspot in exon 9.</strong> Brit. J. Cancer 84: 199-201, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11161377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11161377</a>] [<a href="https://doi.org/10.1054/bjoc.2000.1583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11161377">Schmitz et al. (2001)</a> found the same somatic mutation in exon 9 of the SMARCB1 gene (arg377-to-his; R377H) in 4 of 126 meningiomas (<a href="/entry/607174">607174</a>). The data indicated that SMARCB1 is a candidate tumor suppressor gene on chromosome 22 that may be important for the genesis of meningiomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11161377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Rhabdoid Tumor Predisposition Syndrome 1</em></strong></p><p>
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In affected members of 3 different families with the rhabdoid predisposition syndrome-1 (RTPS1; <a href="/entry/609322">609322</a>), <a href="#14" class="mim-tip-reference" title="Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O. <strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong> Am. J. Hum. Genet. 65: 1342-1348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521299">Sevenet et al. (1999)</a> identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., <a href="#0003">601607.0003</a>). Tumor tissue, when available, showed somatic loss of heterozygosity (LOH) at the SMARCB1 locus. In all tested cases, DNA from parents demonstrated normal SNF5/INI1 sequences, thereby indicating the de novo occurrence of the mutations, which were shown to involve the maternal allele in 1 case and the paternal allele in 2 other cases. The data indicated that constitutional mutation of this gene predisposes to renal or extrarenal MRT and also to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521299" 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 multigenerational family with RTPS1, <a href="#16" class="mim-tip-reference" title="Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T. <strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong> Am. J. Hum. Genet. 66: 1403-1406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739763[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739763">Taylor et al. (2000)</a> identified a G-to-A transition at position +1 of the donor splice site of exon 7 of the SMARCB1 gene (<a href="#0004">601607.0004</a>). The mutation was predicted to cause a truncation of the protein. The mother of the proband had the mutation but was completely healthy; a maternal uncle had died at age 2 years from a posterior fossa choroid plexus carcinoma. A sib of the maternal grandfather had died in infancy from a disease process consistent with a pediatric brain tumor. The proband was aged 18 months when she presented with a cerebellar malignant rhabdoid tumor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Schwannomatosis 1 and Meningiomas</em></strong></p><p>
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Schwannomatosis-1 (SWN1; <a href="/entry/162091">162091</a>) is characterized by the development of multiple spinal, peripheral, and cranial nerve schwannomas in the absence of vestibular schwannomas. The presence of vestibular schwannomas is diagnostic of neurofibromatosis type 2 (NF2; <a href="/entry/101000">101000</a>). Molecular analyses identified somatically acquired mutations in the NF2 gene in schwannomas of patients with schwannomatosis. However, linkage studies performed in families affected with schwannomatosis excluded NF2 as the germline-transmissible schwannomatosis gene and suggested a location of the gene near marker D22S1174, which is in the region of chromosome 22 centromeric to NF2 (<a href="#8" class="mim-tip-reference" title="MacCollin, M., Willett, C., Heinrich, B., Jacoby, L. B., Acierno, J. S., Jr., Perry, A., Louis, D. N. <strong>Familial schwannomatosis: exclusion of the NF2 locus as the germline event.</strong> Neurology 60: 1968-1974, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12821741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12821741</a>] [<a href="https://doi.org/10.1212/01.wnl.0000070184.08740.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12821741">MacCollin et al., 2003</a>). In a father and daughter who both had schwannomatosis, <a href="#5" class="mim-tip-reference" title="Hulsebos, T. J. M., Plomp, A. S., Wolterman, R. A., Robanus-Maandag, E. C., Baas, F., Wesseling, P. <strong>Germline mutation of INI1/SMARCB1 in familial schwannomatosis.</strong> Am. J. Hum. Genet. 80: 805-810, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357086[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357086">Hulsebos et al. (2007)</a> reported an inactivating germline mutation in exon 1 of the tumor suppressor gene INI1/SMARCB1 (<a href="#0005">601607.0005</a>). Inactivation of the wildtype INI1 allele, by a second mutation in exon 5 (<a href="#0006">601607.0006</a>) or by clear loss, was found in 2 of 4 investigated schwannomas from these patients. All 4 schwannomas displayed complete loss of nuclear INI1 protein expression in part of the cells. Although the exact oncogenetic mechanism in these schwannomas remained to be elucidated, the findings suggested that INI1 is a predisposing gene in familial schwannomatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17357086+12821741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a> identified a de novo germline deletion/insertion in the SMARCB1 gene (<a href="#0007">601607.0007</a>) in a patient with schwannomatosis. Three different tumors derived from this patient showed the deletion/insertion and a somatic NF2 mutation on the same allele, but no other SMARCB1 mutations. In addition, 2 of the tumors had somatic loss of heterozygosity encompassing the SMARCB1 and NF2 region. In tumor tissues from 2 other patients, <a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a> found a somatic SMARCB1 or NF2 mutation in association with loss of heterozygosity, but no germline mutations were identified. <a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a> postulated that a 4-hit mechanism involving 2 distinct but linked tumor suppressor genes, SMARCB1 and NF2, may underlie the development of tumors in a subset of patients with schwannomatosis. However, given the low frequency of SMARCB1 germline mutations, there may also be additional loci involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18072270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 (33.3%) of 15 families with schwannomatosis and 2 (7.1%) of 28 individuals with sporadic schwannomatosis, <a href="#3" class="mim-tip-reference" title="Hadfield, K. D., Newman, W. G., Bowers, N. L., Wallace, A., Bolger, C., Colley, A., McCann, E., Trump, D., Prescott, T., Evans, D. G. R. <strong>Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.</strong> J. Med. Genet. 45: 332-339, 2008. Note: Erratum: J. Med. Genet. 45: 608 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285426</a>] [<a href="https://doi.org/10.1136/jmg.2007.056499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18285426">Hadfield et al. (2008)</a> identified germline mutations in the SMARCB1 gene (see, e.g., <a href="#0008">601607.0008</a>). In all of these individuals in whom tumor tissue was available, tumor tissue showed a second hit with loss of SMARCB1. In addition, all of these patients had biallelic somatic inactivation of the NF2 gene. Similar to the report of <a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a>, the findings suggested that 4 hits of these 2 genes are usually necessary to develop schwannomas. Germline SMARCB1 mutations were associated with a higher number of spinal tumors in patients with a positive family history (p = 0.004). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18072270+18285426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 affected members of a family with schwannomatosis and multiple meningiomas, <a href="#2" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> identified a heterozygous mutation in the SMARCB1 gene (P48L; <a href="#0011">601607.0011</a>). Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a vestibular schwannoma. Four meningiomas available for study all showed loss of the wildtype allele, consistent with the 2-hit hypothesis of tumorigenesis. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (<a href="/entry/607379">607379</a>) as well as loss of heterozygosity at the NF2 locus. <a href="#2" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> concluded that the SMARCB1 P48L mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20930055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Coffin-Siris Syndrome 3</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> identified 2 mutations in the SMARCB1 gene in 4 patients with Coffin-Siris syndrome (CSS3; <a href="/entry/614608">614608</a>). Three patients carried the same in-frame deletion (<a href="#0012">601607.0012</a>) and 1 patient carried a missense mutation (<a href="#0013">601607.0013</a>). That the mutations were nontruncating implied a gain-of-function or a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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="Misawa, A., Hosoi, H., Imoto, I., Iehara, T., Sugimoto, T., Inazawa, J. <strong>Translocation (1;22)(p36;q11.2) with concurrent del(22)(q11.2) resulted in homozygous deletion of SNF5/INI1 in a newly established cell line derived from extrarenal rhabdoid tumor.</strong> J. Hum. Genet. 49: 586-589, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378398</a>] [<a href="https://doi.org/10.1007/s10038-004-0191-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378398">Misawa et al. (2004)</a> observed a translocation t(1;22) with concurrent deletion of 22q11.2 resulting in homozygous deletion of the SNF5 gene in a newly established cell line derived from an extrarenal rhabdoid tumor. The patient was a 5-month-old boy who was found to have a thoracic mass without metastases at the time of diagnosis. Cytogenetic analysis of peripheral lymphocytes demonstrated a normal male karyotype. Combined total resection, chemotherapy, and radiation therapy led to apparent cure by the age of 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378398" 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>Most samples and cell lines from malignant rhabdoid tumors show biallelic inactivating mutations of the SNF5 gene, suggesting that SNF5 may act as a tumor suppressor. <a href="#10" class="mim-tip-reference" title="Roberts, C. W. M., Galusha, S. A., McMenamin, M. E., Fletcher, C. D. M., Orkin, S. H. <strong>Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice.</strong> Proc. Nat. Acad. Sci. 97: 13796-13800, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095756</a>] [<a href="https://doi.org/10.1073/pnas.250492697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095756">Roberts et al. (2000)</a> examined the role of Snf5 in development and cancer in a mouse model. They found that Snf5 is widely expressed during embryogenesis with focal areas of high-level expression in the mandibular portion of the first branchial arch and central nervous system. Homozygous knockout of Snf5 resulted in lethality by embryonic day 7, whereas heterozygous mice were born at the expected frequency and appeared normal. However, beginning as early as 5 weeks of age, heterozygous mice developed tumors consistent with malignant rhabdoid tumor. Most tumors arose in soft tissues derived from the first branchial arch. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095756" 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="#17" class="mim-tip-reference" title="Tsikitis, M., Zhang, Z., Edelman, W., Zagzag, D., Kalpana, G. V. <strong>Genetic ablation of cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss.</strong> Proc. Nat. Acad. Sci. 102: 12129-12134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16099835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16099835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16099835[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/10.1073/pnas.0505300102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16099835">Tsikitis et al. (2005)</a> found that tumors developed from Ini1 +/- mice were rhabdoid, defective for Ini1 protein, and expressed cyclin D1 (CCND1; <a href="/entry/168461">168461</a>). They crossed Ini1 +/- mice with Ccnd1 -/- mice and found that these mice did not develop spontaneous tumors, in contrast to parental Ini1 +/- mice. <a href="#17" class="mim-tip-reference" title="Tsikitis, M., Zhang, Z., Edelman, W., Zagzag, D., Kalpana, G. V. <strong>Genetic ablation of cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss.</strong> Proc. Nat. Acad. Sci. 102: 12129-12134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16099835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16099835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16099835[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/10.1073/pnas.0505300102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16099835">Tsikitis et al. (2005)</a> concluded that CCND1 is a key mediator in the genesis of rhabdoid tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16099835" 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">rs587776677 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776677;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=rs587776677" 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=rs587776677" 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 cell line from a 21-year-old male with malignant rhabdoid tumor of the kidney (see <a href="/entry/609322">609322</a>), <a href="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> found a somatic 1-bp deletion of nucleotide 317 of the SNF5 gene in 1 allele and loss of heterozygosity at the other allele. The findings were consistent with a 2-hit recessive model of oncogenesis and supported the hypothesis that SMARCB1 acts as a tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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 cell line from a 7-year-old female with malignant rhabdoid tumor of the abdomen (see <a href="/entry/609322">609322</a>), <a href="#21" class="mim-tip-reference" title="Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O. <strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong> Nature 394: 203-206, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>] [<a href="https://doi.org/10.1038/28212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671307">Versteege et al. (1998)</a> found a somatic 19-bp deletion beginning with nucleotide 37 in 1 allele of the SNF5 gene and loss of heterozygosity at the other allele. The findings were consistent with a 2-hit recessive model of oncogenesis and supported the hypothesis that SMARCB1 acts as a tumor suppressor gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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">rs587776678 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776678;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=rs587776678" 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=rs587776678" 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=RCV000008488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008488</a>
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<p>In 3 sibs with the rhabdoid tumor predisposition syndrome-1 (RTPS1; <a href="/entry/609322">609322</a>), <a href="#14" class="mim-tip-reference" title="Sevenet, N., Sheridan, E., Amram, D., Schneider, P., Handgretinger, R., Delattre, O. <strong>Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.</strong> Am. J. Hum. Genet. 65: 1342-1348, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521299[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521299">Sevenet et al. (1999)</a> identified a heterozygous germline 1-bp deletion (591delG) in the SMARCB1 gene, predicted to result in a frameshift and premature termination. One of the patients had a choroid plexus carcinoma at age 4 months, and 2 had atypical teratoid and rhabdoid tumor at ages 2 months and 12 months, respectively. Tumor tissue from 1 of the patients showed somatic loss of heterozygosity. In contrast, DNA from the healthy parents and from the 3 unaffected sibs demonstrated wildtype sequences. These studies demonstrated that the mutation was inherited from the mother and probably occurred during oogenesis, since both maternal fibroblast DNA and maternal blood DNA displayed normal sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521299" 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">rs112038099 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs112038099;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=rs112038099" 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=rs112038099" 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=RCV000008489 OR RCV004018590" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008489, RCV004018590" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008489...</a>
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<p><a href="#16" class="mim-tip-reference" title="Taylor, M. D., Gokgoz, N., Andrulis, I. L., Mainprize, T. G., Drake, J. M., Rutka, J. T. <strong>Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.</strong> Am. J. Hum. Genet. 66: 1403-1406, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739763</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739763[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739763">Taylor et al. (2000)</a> identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous system malignant rhabdoid tumor and choroid plexus carcinoma, consistent with the rhabdoid tumor predisposition syndrome-1 (RTPS1; <a href="/entry/609322">609322</a>). Both affected and some unaffected family members had a germline splice site mutation of the SMARCB1 gene, leading to exclusion of exon 7 from the mature cDNA and a subsequent frameshift. Tumor tissue showed loss of the wildtype SMARCB1 allele, in keeping with a tumor suppressor gene. The findings suggested that germline mutations in SMARCB1 are associated with a novel autosomal dominant syndrome with incomplete penetrance that predisposes to malignant posterior fossa brain tumors of infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739763" 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">rs74315513 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315513;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=rs74315513" 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=rs74315513" 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=RCV000008490 OR RCV003278655 OR RCV003555975" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008490, RCV003278655, RCV003555975" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008490...</a>
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<p>In blood DNA from a proband with schwannomatosis-1 (SWN1; <a href="/entry/162091">162091</a>) and in DNA from a seborrheic keratitis lesion of her deceased father, <a href="#5" class="mim-tip-reference" title="Hulsebos, T. J. M., Plomp, A. S., Wolterman, R. A., Robanus-Maandag, E. C., Baas, F., Wesseling, P. <strong>Germline mutation of INI1/SMARCB1 in familial schwannomatosis.</strong> Am. J. Hum. Genet. 80: 805-810, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357086[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357086">Hulsebos et al. (2007)</a> identified a heterozygous C-to-T transition at mRNA position 34 in exon 1 of the SMARCB1 gene that resulted in conversion of a glutamine to a stop codon at residue 12 (Q12X). The mutation was also found in DNA of all 4 schwannomas available for further analysis (1 from the proband and 3 from her father), but not in blood DNA from the clinically unaffected mother. The proband, a 22-year-old woman, presented with pain in her back that had been increasing for 3 years. MRI scan of the lumbar spine showed intradural tumors at L1 and L2-L3. After laminectomy, 3 tumors arising from the lumbar spinal nerve roots were removed and diagnosed histopathologically as schwannomas. MRI scans of the cervical and thoracic spine showed multiple intradural, extramedullary lesions of variable size. The most cranial lesion was at C6-C7. No vestibular schwannomas were present. No mutation was found in the NF2 gene (<a href="/entry/607379">607379</a>). The father of the proband had a history of diabetes mellitus and had surgery at the age of approximately 35 years for Wolff-Parkinson-White syndrome (<a href="/entry/194200">194200</a>). When he was 49 years of age, subcutaneous tumors were removed from his right thumb, right index finger, and the first web space of his left hand and were diagnosed histopathologically as schwannomas. In subsequent years, additional schwannomas were removed from his right upper arm and right thumb. Dermatologic and ophthalmologic examinations revealed no signs of neurofibromatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357086" 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">rs121434496 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434496;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=rs121434496" 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=rs121434496" 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=RCV000008491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008491</a>
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<p>In DNA from a schwannoma from a man whose daughter also had schwannomatosis (SWN1; <a href="/entry/162091">162091</a>), <a href="#5" class="mim-tip-reference" title="Hulsebos, T. J. M., Plomp, A. S., Wolterman, R. A., Robanus-Maandag, E. C., Baas, F., Wesseling, P. <strong>Germline mutation of INI1/SMARCB1 in familial schwannomatosis.</strong> Am. J. Hum. Genet. 80: 805-810, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17357086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17357086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17357086[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17357086">Hulsebos et al. (2007)</a> identified heterozygosity for a 544C-T transition in exon 5 of the SMARCB1 gene, which resulted in premature termination of the protein (gln182 to ter, Q182X). This mutation was found in conjunction with the germline mutation Q12X (<a href="#0005">601607.0005</a>). No mutation in the NF2 gene (<a href="/entry/607379">607379</a>) was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17357086" 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">rs587776679 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776679;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=rs587776679" 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=rs587776679" 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=RCV000008492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008492</a>
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<p>In 1 of 21 unrelated patients with schwannomatosis (SWN1; <a href="/entry/162091">162091</a>), <a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a> identified a de novo germline insertion/deletion (203delinsTACC) in exon 2 of the SMARCB1 gene, resulting in a frameshift. Three different tumors derived from this patient showed the same mutation, but no other SMARCB1 mutations; however, all 3 tumors showed a somatic NF2 (<a href="/entry/607379">607379</a>) mutation on the same allele. In addition, 2 of the tumors had loss of heterozygosity encompassing the SMARCB1 and NF2 region. <a href="#12" class="mim-tip-reference" title="Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L. <strong>Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.</strong> Hum. Mutat. 29: 227-231, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18072270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18072270</a>] [<a href="https://doi.org/10.1002/humu.20679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18072270">Sestini et al. (2008)</a> postulated that a 4-hit mechanism involving 2 distinct but linked tumor suppressor genes, SMARCB1 and NF2, may underlie the development of tumors in a subset of patients with schwannomatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18072270" 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 with schwannomatosis (SWN1; <a href="/entry/162091">162091</a>), <a href="#3" class="mim-tip-reference" title="Hadfield, K. D., Newman, W. G., Bowers, N. L., Wallace, A., Bolger, C., Colley, A., McCann, E., Trump, D., Prescott, T., Evans, D. G. R. <strong>Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.</strong> J. Med. Genet. 45: 332-339, 2008. Note: Erratum: J. Med. Genet. 45: 608 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285426</a>] [<a href="https://doi.org/10.1136/jmg.2007.056499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18285426">Hadfield et al. (2008)</a> identified a heterozygous 7-bp deletion at the start of exon 3 of the SMARCB1 gene, predicted to result in a splicing defect. Tumor tissue from these patients showed loss of heterozygosity for SMARCB1 as well as biallelic loss of NF2 (<a href="/entry/607379">607379</a>). The findings suggested that 4 hits of these 2 genes may be necessary to develop schwannomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285426" 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=RCV000008494 OR RCV000008495" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008494, RCV000008495" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008494...</a>
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<p>In affected members of a family with hereditary schwannomatosis (SWN1; <a href="/entry/162091">162091</a>) spanning 4 generations, <a href="#15" class="mim-tip-reference" title="Swensen, J. J., Keyser, J., Coffin, C. M., Biegel, J. A., Viskochil, D. H., Williams, M. S. <strong>Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.</strong> J. Med. Genet. 46: 68-72, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19124645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19124645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19124645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2008.060152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19124645">Swensen et al. (2009)</a> identified a heterozygous germline 2,631-bp duplication in chromosome 22q11 that included exon 6 of the SMARCB1 gene. The mutation was predicted to result in premature protein termination. Two patients with mutations had malignant rhabdoid tumors (RTPS1; <a href="/entry/609322">609322</a>), and a third was believed to have had a rhabdoid tumor. Two rhabdoid tumors and several schwannomas showed somatic loss of the SMARCB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19124645" 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">rs267607072 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607072;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=rs267607072" 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=rs267607072" 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=RCV000008496 OR RCV003231093 OR RCV004948133" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008496, RCV003231093, RCV004948133" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008496...</a>
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<p>In affected members of a family with multiple schwannomas (SWN1; <a href="/entry/162091">162091</a>), <a href="#1" class="mim-tip-reference" title="Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L. <strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong> Neurogenetics 11: 73-80, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>] [<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19582488">Bacci et al. (2010)</a> identified a heterozygous 92A-T transversion in exon 1 of the SMARCB1 gene, resulting in a glu31-to-val (E31V) substitution in a highly conserved residue. In silico analysis predicted that the E31V-mutant would disrupt a donor splice site, and RNA studies showed loss of the mutant transcript, suggesting altered splicing or nonsense-mediated decay. Three affected individuals with schwannomas also developed multiple meningiomas (<a href="/entry/607174">607174</a>), which <a href="#1" class="mim-tip-reference" title="Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L. <strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong> Neurogenetics 11: 73-80, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>] [<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19582488">Bacci et al. (2010)</a> suggested should be considered a component of familial schwannomatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19582488" 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">rs387906811 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906811;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=rs387906811" 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=rs387906811" 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=RCV000023122 OR RCV001321700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023122, RCV001321700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023122...</a>
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<p>In 5 affected members of a family with schwannomatosis (SWN1; <a href="/entry/162091">162091</a>) and multiple meningiomas (<a href="/entry/607174">607174</a>), <a href="#2" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> identified a heterozygous 143C-T transition in exon 2 of the SMARCB1 gene, resulting in a pro48-to-leu (P48L) substitution in a highly conserved residue. The mutation was not found in 100 controls. Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a vestibular schwannoma. Four meningiomas available for study all showed loss of the normal C allele in SMARCB1, which was transcribed into a stable mRNA. These findings were consistent with the 2-hit hypothesis of tumorigenesis. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (<a href="/entry/607379">607379</a>) as well as loss of heterozygosity at the NF2 locus. <a href="#2" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a> concluded that the SMARCB1 P48L mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20930055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">Van den Munckhof et al. (2012)</a> provided further studies of the family reported by <a href="#2" class="mim-tip-reference" title="Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong> J. Med. Genet. 48: 93-97, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>] [<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20930055">Christiaans et al. (2011)</a>. Reexamination of tumor tissue from 4 meningiomas and 2 schwannomas showed that all tumors had LOH for both SMARCB1 and NF2, consistent with a deletion of a segment of chromosome 22 containing these 2 genes. Three meningiomas and 2 schwannomas were each found to carry somatic mutations in the NF2 gene. Thus, the genetic changes found in the 2 tumor types were the same and characteristic for SMARCB1-mutation positive tumors: retention of the exon 2 mutation, acquisition of an NF2 mutation, and LOH of the wildtype allele of both genes. In addition, <a href="#20" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">van den Munckhof et al. (2012)</a> identified 11 more carriers of the P48L mutation in this family. Eight of these 11 mutation carriers were found to carry 11 lesions suggestive of cranial meningioma and 6 spinal lesions consistent with meningiomas or schwannomas. Nine (82%) of the 11 cranial meningiomas were found in the falx cerebri. <a href="#20" class="mim-tip-reference" title="van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M. <strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong> Neurogenetics 13: 1-7, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>] [<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22038540">Van den Munckhof et al. (2012)</a> concluded that meningiomas should be included in the schwannomatosis tumor spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22038540+20930055" 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">rs875989800 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs875989800;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=rs875989800" 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=rs875989800" 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=RCV000023121 OR RCV000377856 OR RCV002444438 OR RCV002504820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023121, RCV000377856, RCV002444438, RCV002504820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023121...</a>
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<p>In 3 patients (patients 4, 21, and 22) with Coffin-Siris syndrome (CSS3; <a href="/entry/614608">614608</a>), <a href="#18" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> identified a heterozygous 3-bp in-frame deletion in the SMARCB1 gene (1091_1093delAGA) that resulted in deletion of lysine-364 (lys364del). The mutation was de novo in 2 cases, and parental samples were unavailable in the third. This mutation was not seen in any of 502 Japanese control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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> rs387906812 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906812;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/rs387906812?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=rs387906812" 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=rs387906812" 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=RCV000023124 OR RCV001017402 OR RCV001238882" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023124, RCV001017402, RCV001238882" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023124...</a>
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<p>In Patient 11 with Coffin-Siris syndrome (CSS3; <a href="/entry/614608">614608</a>), <a href="#18" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> detected a heterozygous de novo G-to-A transition at nucleotide 1130 of the SMARCB1 gene that resulted in an arg-to-his substitution at codon 377 (R377H). This mutation was not seen in any of 500 Japanese control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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">rs398122368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122368;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=rs398122368" 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=rs398122368" 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=RCV000074462 OR RCV000262341 OR RCV001533133 OR RCV004556052" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074462, RCV000262341, RCV001533133, RCV004556052" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074462...</a>
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<p>In a girl with Coffin-Siris syndrome (CSS3; <a href="/entry/614608">614608</a>), <a href="#7" class="mim-tip-reference" title="Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., van den Akker, W. M. R., Nadif Kasri, N., Nillesen, W. M., Prescott, T., and 10 others. <strong>Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.</strong> Am. J. Hum. Genet. 91: 73-82, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22726846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22726846</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22726846[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22726846">Kleefstra et al. (2012)</a> identified a de novo heterozygous G-to-A transition at nucleotide 110 of the SMARCB1 gene, resulting in an arg-to-his substitution at codon 37 (R37H). <a href="#7" class="mim-tip-reference" title="Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., van den Akker, W. M. R., Nadif Kasri, N., Nillesen, W. M., Prescott, T., and 10 others. <strong>Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.</strong> Am. J. Hum. Genet. 91: 73-82, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22726846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22726846</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22726846[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.05.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22726846">Kleefstra et al. (2012)</a> described the phenotype as Kleefstra syndrome spectrum disorder (KSS). Neonatally, Down syndrome was suspected. Shunting was required at the age of 2.5 years for hydrocephalus, and the patient later required a plexectomy because of high cerebrospinal fluid production. In addition to intellectual disability and childhood hypotonia, the patient had brachycephaly, midface hypoplasia, coarse facies, hypertelorism, synophrys, short nose, anteverted nostrils, macroglossia, tented and cupid-bowed upper lip, and brachydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22726846" 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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Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L.
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<strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong>
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Neurogenetics 11: 73-80, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19582488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19582488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19582488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-009-0204-2" target="_blank">Full Text</a>]
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Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M.
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<strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong>
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J. Med. Genet. 48: 93-97, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20930055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20930055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20930055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2010.082420" target="_blank">Full Text</a>]
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Hadfield, K. D., Newman, W. G., Bowers, N. L., Wallace, A., Bolger, C., Colley, A., McCann, E., Trump, D., Prescott, T., Evans, D. G. R.
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<strong>Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.</strong>
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J. Med. Genet. 45: 332-339, 2008. Note: Erratum: J. Med. Genet. 45: 608 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2007.056499" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.aaz9761" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/513207" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.05.003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000070184.08740.e0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-004-0191-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.250492697" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1054/bjoc.2000.1583" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11430827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11430827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11430827" 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/s1097-2765(01)00255-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="van den Munckhof2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van den Munckhof, P., Christiaans, I., Kenter, S. B., Baas, F., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.</strong>
|
|
Neurogenetics 13: 1-7, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22038540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22038540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22038540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-011-0300-y" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Versteege1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Versteege, I., Sevenet, N., Lange, J., Rousseau-Merck, M.-F., Ambros, P., Handgretinger, R., Aurias, A., Delattre, O.
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<strong>Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.</strong>
|
|
Nature 394: 203-206, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671307" 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/10.1038/28212" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Vries2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vries, R. G. J., Bezrookove, V., Zuijderduijn, L. M. P., Kia, S. K., Houweling, A., Oruetxebarria, I., Raap, A. K., Verrijzer, C. P.
|
|
<strong>Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint.</strong>
|
|
Genes Dev. 19: 665-670, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15769941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15769941</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15769941[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=15769941" 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/10.1101/gad.335805" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wang2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, X., Lee, R. S., Alver, B. H., Haswell, J. R., Wang, S., Mieczkowski, J., Drier, Y., Gillespie, S. M., Archer, T. C., Wu, J. N., Tzvetkov, E. P., Troisi, E. C., Pomeroy, S. L., Biegel, J. A., Tolstorukov, M. Y., Bernstein, B. E., Park. P. J., Roberts, C. W. M.
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|
<strong>SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.</strong>
|
|
Nature Genet. 49: 289-295, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27941797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27941797</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27941797[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=27941797" 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.3746" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Wu2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, D. Y., Tkachuck, D. C., Roberson, R. S., Schubach, W. H.
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<strong>The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity.</strong>
|
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J. Biol. Chem. 277: 27706-27715, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12016208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12016208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12016208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M200955200" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/24/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 03/09/2017<br>Ada Hamosh - updated : 11/26/2013<br>Cassandra L. Kniffin - updated : 6/20/2012<br>Ada Hamosh - updated : 4/30/2012<br>Patricia A. Hartz - updated : 12/19/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Cassandra L. Kniffin - updated : 3/6/2008<br>Paul J. Converse - updated : 5/21/2007<br>Victor A. McKusick - updated : 3/27/2007<br>Patricia A. Hartz - updated : 9/28/2005<br>Patricia A. Hartz - updated : 4/19/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Stylianos E. Antonarakis - updated : 7/3/2001<br>Victor A. McKusick - updated : 1/16/2001<br>Victor A. McKusick - updated : 4/13/2000<br>Victor A. McKusick - updated : 12/9/1999<br>Victor A. McKusick - updated : 11/15/1999<br>Victor A. McKusick - updated : 12/7/1998<br>Victor A. McKusick - updated : 8/3/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/6/1997
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/29/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/24/2020<br>alopez : 03/24/2020<br>carol : 01/17/2018<br>alopez : 03/09/2017<br>carol : 04/29/2016<br>carol : 3/4/2014<br>ckniffin : 2/27/2014<br>alopez : 11/26/2013<br>carol : 9/16/2013<br>carol : 7/3/2013<br>ckniffin : 7/1/2013<br>alopez : 1/24/2013<br>terry : 12/20/2012<br>carol : 6/21/2012<br>terry : 6/21/2012<br>ckniffin : 6/20/2012<br>alopez : 5/4/2012<br>alopez : 5/2/2012<br>terry : 4/30/2012<br>mgross : 12/19/2011<br>terry : 12/19/2011<br>carol : 6/17/2011<br>carol : 2/24/2011<br>ckniffin : 2/23/2011<br>carol : 3/25/2010<br>ckniffin : 3/25/2010<br>wwang : 3/3/2010<br>ckniffin : 3/1/2010<br>wwang : 1/7/2010<br>terry : 11/30/2009<br>wwang : 6/1/2009<br>ckniffin : 2/13/2009<br>wwang : 10/8/2008<br>ckniffin : 10/2/2008<br>wwang : 3/12/2008<br>ckniffin : 3/6/2008<br>carol : 6/27/2007<br>mgross : 5/21/2007<br>alopez : 4/2/2007<br>terry : 3/27/2007<br>mgross : 10/6/2005<br>terry : 9/28/2005<br>mgross : 4/21/2005<br>terry : 4/19/2005<br>wwang : 1/6/2005<br>terry : 1/3/2005<br>carol : 3/17/2004<br>mgross : 7/3/2001<br>mcapotos : 1/25/2001<br>mcapotos : 1/23/2001<br>terry : 1/16/2001<br>carol : 11/17/2000<br>carol : 7/13/2000<br>carol : 5/12/2000<br>terry : 4/13/2000<br>mgross : 12/13/1999<br>terry : 12/9/1999<br>mgross : 11/29/1999<br>terry : 11/15/1999<br>kayiaros : 7/13/1999<br>alopez : 12/22/1998<br>carol : 12/10/1998<br>dkim : 12/10/1998<br>terry : 12/7/1998<br>carol : 8/4/1998<br>terry : 8/3/1998<br>jamie : 1/7/1997<br>mark : 1/6/1997<br>mark : 1/6/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601607
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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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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
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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">
|
|
SNF5, YEAST, HOMOLOG OF; SNF5<br />
|
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INTEGRASE INTERACTOR 1; INI1<br />
|
|
MALIGNANT RHABDOID TUMOR SUPPRESSOR
|
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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-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: SMARCB1</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>
|
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<em>
|
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Cytogenetic location: 22q11.23
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 22:23,786,966-23,838,009 </span>
|
|
</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
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="4">
|
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<span class="mim-font">
|
|
22q11.23
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
{Rhabdoid tumor predisposition syndrome 1}
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609322
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
{Schwannomatosis-1, susceptibility to}
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
162091
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Coffin-Siris syndrome 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614608
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Rhabdoid tumors, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609322
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
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</tr>
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</tbody>
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</table>
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</div>
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<br />
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</div>
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<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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<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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<span class="mim-text-font">
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<p>The SMARCB1 gene encodes a subunit of the SWI/SNF ATP-dependent chromatin-remodeling complex.</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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<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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<span class="mim-text-font">
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<p>Versteege et al. (1998) identified the SMARCB1 gene, which they called SNF5/INI1, within a region frequently deleted in malignant rhabdoid tumors (MRT). By RT-PCR, they cloned SNF5/INI1. The deduced 385-amino acid protein has a C-terminal domain similar to yeast Snf5, which includes a repeated peptide sequence and possible C-terminal coiled-coil structure. Use of a cryptic splice donor site in exon 2 results in a SNF5/INI1 protein lacking a short peptide sequence in its N-terminal region. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Turelli et al. (2001) showed that incoming retroviral preintegration complexes trigger the exportin (602559)-mediated cytoplasmic export of the SWI/SNF component INI1 and of the nuclear body constituent PML (102578). They further showed that the human immunodeficiency virus (HIV) genome associates with these proteins before nuclear migration. In the presence of arsenic, PML was sequestered in the nucleus, and the efficiency of HIV-mediated transduction was markedly increased. These results unveiled an unsuspected cellular response that interferes with the early steps of HIV replication. </p><p>Wu et al. (2002) noted that GADD34 (PPP1R15A; 611048) and SNF5 can coexist in a trimeric complex with chimeric leukemic HRX (MLL; 159555) fusion proteins, leading to inhibition of GADD34-mediated apoptosis. By mutation analysis, they showed that the GADD34 region homologous to the HSV-1 ICP34.5 protein was necessary for interaction with SNF5. SNF5 could bind independently with the protein phosphatase-1 (PP1) catalytic subunit (PPP1CA; 176875) and stimulate its activity in solution and in complex with GADD34. SNF5 and PP1 did not compete for GADD34 binding, but rather formed a stable trimeric complex with GADD34. Wu et al. (2002) proposed that GADD34 mediates growth suppression, at least in part, through its interaction with SNF5. They suggested that SNF5 may function as a regulatory subunit of PP1, either independently or together with GADD34. </p><p>Vries et al. (2005) found that loss of SNF5 function in malignant rhabdoid tumor-derived cells led to polyploidy and chromosomal instability. Reexpression of SNF5 restored the coupling between cell cycle progression and ploidy checkpoints. In contrast, cancer-associated SNF5 mutations exacerbated poly- and aneuploidization by abrogating chromosome segregation. Vries et al. (2005) found that loss of SNF5 function caused elevated levels of MAD2 (MAD2L1; 601467) due to unregulated E2F1 (189971) activity, which can be sufficient to cause defective spindle checkpoint. They concluded that SNF5 exerts ploidy control through a pathway that includes p16(INK4a) (CDKN2A; 600160), cyclin D (see 168461), CDK4 (123829), RB1 (614041), and E2F. </p><p>Using mass spectrometry, immunoprecipitation, and chromatin immunoprecipitation analysis, Jagani et al. (2010) found that mouse Snf5 interacted with Gli (165220) at Gli-responsive promoters, including the Gli promoter itself. Knockdown of Snf5 in mouse embryonic fibroblasts increased expression of Gli and Gli-responsive genes, notably those of the hedgehog pathway (see SHH; 600725). Conversely, expression of SNF5 in SNF5-deficient human cells reduced GLI expression. Microarray analysis revealed that primary human tumors with reduced SNF5 expression showed enriched expression of genes associated with hedgehog pathway activation and GLI overexpression. Knockdown studies also showed that GLI was required for proliferation of SNF5-deficient human cells. Jagani et al. (2010) concluded that SNF5 is a negative regulator of GLI-hedgehog signaling. </p><p>By reexpression of SMARCB1 in brain and kidney rhabdoid cell lines and in Smarcb1-null mouse embryonic fibroblasts, Wang et al. (2017) found that SMARCB1 increased the number of SWI-SNF complexes and increased protein levels of numerous SWI/SNF subunits, particularly ARID1A (603024) and ARID1B (614556). Chromatin immunoprecipitation analysis showed that reexpression of SMARCB1 also increased chromatin occupancy by SMARCA4 (603254) and SMARCC1 (601732). With or without SMARCB1, SWI/SNF complexes predominantly targeted enhancers distal to transcriptional start sites, with the number of sites markedly increased in the presence of SMARCB1. Wang et al. (2017) concluded that SMARCB1 stabilizes SWI/SNF complexes at enhancers. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Versteege et al. (1998) found that the SMARCB1 gene contains 9 exons and spans approximately 50 kb. </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>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
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He et al. (2020) reported the 3.7-angstrom resolution cryoelectron microscopy structure of human BRG1 (SMARCA4; 603254)/BRM-associated factor complex bound to the nucleosome. The structure revealed that the nucleosome is sandwiched by the base and the ATPase modules, which are bridged by the actin-related protein (ARP) module, composed of an ACTL6A (604958)-ACTB (102630) heterodimer and the long alpha helix of the helicase-SANT-associated region (HSA) of SMARCA4. The ATPase motor is positioned proximal to nucleosomal DNA and, upon ATP hydrolysis, engages with and pumps DNA along the nucleosome. The C-terminal alpha helix of SMARCB1, enriched in positively charged residues frequently mutated in cancers, mediates interactions with an acidic patch of the nucleosome. ARID1A (603024) and the SWI/SNF complex subunit SMARCC (601732) serve as a structural core and scaffold in the base module organization, respectively. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SMARCB1 gene maps to chromosome 22q11.2 (Versteege et al., 1998). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Somatic Mutations in the SMARCB1 Gene</em></strong></p><p>
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Versteege et al. (1998) mapped the most frequently deleted part of chromosome 22q11.2 from a panel of 13 cell lines from malignant rhabdoid tumors (MRT, see 609322) and observed 6 homozygous deletions that delineated the smallest region of overlap, which fell in the region of the SNF5/INI1 gene. Analysis of 12 of these lines showed somatic frameshift or nonsense mutations in the SMARCB1 gene (see, e.g., 601607.0001; 601607.0002). All were associated with loss of heterozygosity (LOH) at the other allele, consistent with the 2-hit recessive model of oncogenesis and consistent with the hypothesis that SNF5/INI1 is the MRT tumor suppressor gene. Versteege et al. (1998) noted that the SWI/SNF complexes, which have been identified in organisms from yeast to humans, are thought to be important in the remodeling of chromatin structure, and the authors concluded that altered chromatin organization at specific DNA sites may be crucial in the process of oncogenesis. </p><p>Sevenet et al. (1999) sought SNF5/INI1 mutations in 229 tumors of various origins using a screening method based on denaturing high-performance liquid chromatography. A total of 31 homozygous deletions and 36 point alterations were identified. Point mutations were scattered along the coding sequence and included nonsense (15), frameshift (15), splice site (3), missense (2), and editing (1) mutations. Mutations were retrieved in most rhabdoid tumors, whatever their sites of origin, indicating the common pathogenetic origin of these tumors. Recurrent SNF5/INI1 alterations were also observed in choroid plexus carcinomas and in a subset of central primitive neuroectodermal tumors and medulloblastomas. In contrast, SNF5/INI1 point mutations were not detected in breast cancers, Wilms tumors, gliomas, ependymomas, sarcomas, and other tumor types, even though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci. Thus, SNF5/INI1 mutations define a genetically homogeneous family of highly aggressive cancers occurring mainly in young children and frequently, but not always, exhibiting a rhabdoid phenotype. </p><p>Schmitz et al. (2001) found the same somatic mutation in exon 9 of the SMARCB1 gene (arg377-to-his; R377H) in 4 of 126 meningiomas (607174). The data indicated that SMARCB1 is a candidate tumor suppressor gene on chromosome 22 that may be important for the genesis of meningiomas. </p><p><strong><em>Rhabdoid Tumor Predisposition Syndrome 1</em></strong></p><p>
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In affected members of 3 different families with the rhabdoid predisposition syndrome-1 (RTPS1; 609322), Sevenet et al. (1999) identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., 601607.0003). Tumor tissue, when available, showed somatic loss of heterozygosity (LOH) at the SMARCB1 locus. In all tested cases, DNA from parents demonstrated normal SNF5/INI1 sequences, thereby indicating the de novo occurrence of the mutations, which were shown to involve the maternal allele in 1 case and the paternal allele in 2 other cases. The data indicated that constitutional mutation of this gene predisposes to renal or extrarenal MRT and also to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor. </p><p>In a multigenerational family with RTPS1, Taylor et al. (2000) identified a G-to-A transition at position +1 of the donor splice site of exon 7 of the SMARCB1 gene (601607.0004). The mutation was predicted to cause a truncation of the protein. The mother of the proband had the mutation but was completely healthy; a maternal uncle had died at age 2 years from a posterior fossa choroid plexus carcinoma. A sib of the maternal grandfather had died in infancy from a disease process consistent with a pediatric brain tumor. The proband was aged 18 months when she presented with a cerebellar malignant rhabdoid tumor. </p><p><strong><em>Schwannomatosis 1 and Meningiomas</em></strong></p><p>
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Schwannomatosis-1 (SWN1; 162091) is characterized by the development of multiple spinal, peripheral, and cranial nerve schwannomas in the absence of vestibular schwannomas. The presence of vestibular schwannomas is diagnostic of neurofibromatosis type 2 (NF2; 101000). Molecular analyses identified somatically acquired mutations in the NF2 gene in schwannomas of patients with schwannomatosis. However, linkage studies performed in families affected with schwannomatosis excluded NF2 as the germline-transmissible schwannomatosis gene and suggested a location of the gene near marker D22S1174, which is in the region of chromosome 22 centromeric to NF2 (MacCollin et al., 2003). In a father and daughter who both had schwannomatosis, Hulsebos et al. (2007) reported an inactivating germline mutation in exon 1 of the tumor suppressor gene INI1/SMARCB1 (601607.0005). Inactivation of the wildtype INI1 allele, by a second mutation in exon 5 (601607.0006) or by clear loss, was found in 2 of 4 investigated schwannomas from these patients. All 4 schwannomas displayed complete loss of nuclear INI1 protein expression in part of the cells. Although the exact oncogenetic mechanism in these schwannomas remained to be elucidated, the findings suggested that INI1 is a predisposing gene in familial schwannomatosis. </p><p>Sestini et al. (2008) identified a de novo germline deletion/insertion in the SMARCB1 gene (601607.0007) in a patient with schwannomatosis. Three different tumors derived from this patient showed the deletion/insertion and a somatic NF2 mutation on the same allele, but no other SMARCB1 mutations. In addition, 2 of the tumors had somatic loss of heterozygosity encompassing the SMARCB1 and NF2 region. In tumor tissues from 2 other patients, Sestini et al. (2008) found a somatic SMARCB1 or NF2 mutation in association with loss of heterozygosity, but no germline mutations were identified. Sestini et al. (2008) postulated that a 4-hit mechanism involving 2 distinct but linked tumor suppressor genes, SMARCB1 and NF2, may underlie the development of tumors in a subset of patients with schwannomatosis. However, given the low frequency of SMARCB1 germline mutations, there may also be additional loci involved. </p><p>In 5 (33.3%) of 15 families with schwannomatosis and 2 (7.1%) of 28 individuals with sporadic schwannomatosis, Hadfield et al. (2008) identified germline mutations in the SMARCB1 gene (see, e.g., 601607.0008). In all of these individuals in whom tumor tissue was available, tumor tissue showed a second hit with loss of SMARCB1. In addition, all of these patients had biallelic somatic inactivation of the NF2 gene. Similar to the report of Sestini et al. (2008), the findings suggested that 4 hits of these 2 genes are usually necessary to develop schwannomas. Germline SMARCB1 mutations were associated with a higher number of spinal tumors in patients with a positive family history (p = 0.004). </p><p>In 5 affected members of a family with schwannomatosis and multiple meningiomas, Christiaans et al. (2011) identified a heterozygous mutation in the SMARCB1 gene (P48L; 601607.0011). Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a vestibular schwannoma. Four meningiomas available for study all showed loss of the wildtype allele, consistent with the 2-hit hypothesis of tumorigenesis. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (607379) as well as loss of heterozygosity at the NF2 locus. Christiaans et al. (2011) concluded that the SMARCB1 P48L mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. </p><p><strong><em>Coffin-Siris Syndrome 3</em></strong></p><p>
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Tsurusaki et al. (2012) identified 2 mutations in the SMARCB1 gene in 4 patients with Coffin-Siris syndrome (CSS3; 614608). Three patients carried the same in-frame deletion (601607.0012) and 1 patient carried a missense mutation (601607.0013). That the mutations were nontruncating implied a gain-of-function or a dominant-negative effect. </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>Cytogenetics</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>Misawa et al. (2004) observed a translocation t(1;22) with concurrent deletion of 22q11.2 resulting in homozygous deletion of the SNF5 gene in a newly established cell line derived from an extrarenal rhabdoid tumor. The patient was a 5-month-old boy who was found to have a thoracic mass without metastases at the time of diagnosis. Cytogenetic analysis of peripheral lymphocytes demonstrated a normal male karyotype. Combined total resection, chemotherapy, and radiation therapy led to apparent cure by the age of 4 years. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Most samples and cell lines from malignant rhabdoid tumors show biallelic inactivating mutations of the SNF5 gene, suggesting that SNF5 may act as a tumor suppressor. Roberts et al. (2000) examined the role of Snf5 in development and cancer in a mouse model. They found that Snf5 is widely expressed during embryogenesis with focal areas of high-level expression in the mandibular portion of the first branchial arch and central nervous system. Homozygous knockout of Snf5 resulted in lethality by embryonic day 7, whereas heterozygous mice were born at the expected frequency and appeared normal. However, beginning as early as 5 weeks of age, heterozygous mice developed tumors consistent with malignant rhabdoid tumor. Most tumors arose in soft tissues derived from the first branchial arch. </p><p>Tsikitis et al. (2005) found that tumors developed from Ini1 +/- mice were rhabdoid, defective for Ini1 protein, and expressed cyclin D1 (CCND1; 168461). They crossed Ini1 +/- mice with Ccnd1 -/- mice and found that these mice did not develop spontaneous tumors, in contrast to parental Ini1 +/- mice. Tsikitis et al. (2005) concluded that CCND1 is a key mediator in the genesis of rhabdoid tumors. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>14 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MALIGNANT RHABDOID TUMOR, SOMATIC</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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SMARCB1, 1-BP DEL
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<br />
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SNP: rs587776677,
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ClinVar: RCV000008486
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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 cell line from a 21-year-old male with malignant rhabdoid tumor of the kidney (see 609322), Versteege et al. (1998) found a somatic 1-bp deletion of nucleotide 317 of the SNF5 gene in 1 allele and loss of heterozygosity at the other allele. The findings were consistent with a 2-hit recessive model of oncogenesis and supported the hypothesis that SMARCB1 acts as a tumor suppressor gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MALIGNANT RHABDOID TUMOR, SOMATIC</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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SMARCB1, 19-BP DEL
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<br />
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ClinVar: RCV000008487
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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 cell line from a 7-year-old female with malignant rhabdoid tumor of the abdomen (see 609322), Versteege et al. (1998) found a somatic 19-bp deletion beginning with nucleotide 37 in 1 allele of the SNF5 gene and loss of heterozygosity at the other allele. The findings were consistent with a 2-hit recessive model of oncogenesis and supported the hypothesis that SMARCB1 acts as a tumor suppressor gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 RHABDOID TUMOR PREDISPOSITION SYNDROME 1</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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SMARCB1, 1-BP DEL, 591G
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<br />
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SNP: rs587776678,
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ClinVar: RCV000008488
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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 3 sibs with the rhabdoid tumor predisposition syndrome-1 (RTPS1; 609322), Sevenet et al. (1999) identified a heterozygous germline 1-bp deletion (591delG) in the SMARCB1 gene, predicted to result in a frameshift and premature termination. One of the patients had a choroid plexus carcinoma at age 4 months, and 2 had atypical teratoid and rhabdoid tumor at ages 2 months and 12 months, respectively. Tumor tissue from 1 of the patients showed somatic loss of heterozygosity. In contrast, DNA from the healthy parents and from the 3 unaffected sibs demonstrated wildtype sequences. These studies demonstrated that the mutation was inherited from the mother and probably occurred during oogenesis, since both maternal fibroblast DNA and maternal blood DNA displayed normal sequences. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 RHABDOID TUMOR PREDISPOSITION SYNDROME 1</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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SMARCB1, IVS7DS, G-A, +1
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|
<br />
|
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|
|
SNP: rs112038099,
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|
|
ClinVar: RCV000008489, RCV004018590
|
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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>Taylor et al. (2000) identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous system malignant rhabdoid tumor and choroid plexus carcinoma, consistent with the rhabdoid tumor predisposition syndrome-1 (RTPS1; 609322). Both affected and some unaffected family members had a germline splice site mutation of the SMARCB1 gene, leading to exclusion of exon 7 from the mature cDNA and a subsequent frameshift. Tumor tissue showed loss of the wildtype SMARCB1 allele, in keeping with a tumor suppressor gene. The findings suggested that germline mutations in SMARCB1 are associated with a novel autosomal dominant syndrome with incomplete penetrance that predisposes to malignant posterior fossa brain tumors of infancy. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 SCHWANNOMATOSIS 1</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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SMARCB1, GLN12TER
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<br />
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SNP: rs74315513,
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ClinVar: RCV000008490, RCV003278655, RCV003555975
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</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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<p>In blood DNA from a proband with schwannomatosis-1 (SWN1; 162091) and in DNA from a seborrheic keratitis lesion of her deceased father, Hulsebos et al. (2007) identified a heterozygous C-to-T transition at mRNA position 34 in exon 1 of the SMARCB1 gene that resulted in conversion of a glutamine to a stop codon at residue 12 (Q12X). The mutation was also found in DNA of all 4 schwannomas available for further analysis (1 from the proband and 3 from her father), but not in blood DNA from the clinically unaffected mother. The proband, a 22-year-old woman, presented with pain in her back that had been increasing for 3 years. MRI scan of the lumbar spine showed intradural tumors at L1 and L2-L3. After laminectomy, 3 tumors arising from the lumbar spinal nerve roots were removed and diagnosed histopathologically as schwannomas. MRI scans of the cervical and thoracic spine showed multiple intradural, extramedullary lesions of variable size. The most cranial lesion was at C6-C7. No vestibular schwannomas were present. No mutation was found in the NF2 gene (607379). The father of the proband had a history of diabetes mellitus and had surgery at the age of approximately 35 years for Wolff-Parkinson-White syndrome (194200). When he was 49 years of age, subcutaneous tumors were removed from his right thumb, right index finger, and the first web space of his left hand and were diagnosed histopathologically as schwannomas. In subsequent years, additional schwannomas were removed from his right upper arm and right thumb. Dermatologic and ophthalmologic examinations revealed no signs of neurofibromatosis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 SCHWANNOMATOSIS 1, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SMARCB1, GLN182TER
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<br />
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|
|
SNP: rs121434496,
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|
|
ClinVar: RCV000008491
|
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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 DNA from a schwannoma from a man whose daughter also had schwannomatosis (SWN1; 162091), Hulsebos et al. (2007) identified heterozygosity for a 544C-T transition in exon 5 of the SMARCB1 gene, which resulted in premature termination of the protein (gln182 to ter, Q182X). This mutation was found in conjunction with the germline mutation Q12X (601607.0005). No mutation in the NF2 gene (607379) was found. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 SCHWANNOMATOSIS 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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SMARCB1, 14-BP DEL/4-BP INS, NT203
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<br />
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|
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SNP: rs587776679,
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|
|
ClinVar: RCV000008492
|
|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 1 of 21 unrelated patients with schwannomatosis (SWN1; 162091), Sestini et al. (2008) identified a de novo germline insertion/deletion (203delinsTACC) in exon 2 of the SMARCB1 gene, resulting in a frameshift. Three different tumors derived from this patient showed the same mutation, but no other SMARCB1 mutations; however, all 3 tumors showed a somatic NF2 (607379) mutation on the same allele. In addition, 2 of the tumors had loss of heterozygosity encompassing the SMARCB1 and NF2 region. Sestini et al. (2008) postulated that a 4-hit mechanism involving 2 distinct but linked tumor suppressor genes, SMARCB1 and NF2, may underlie the development of tumors in a subset of patients with schwannomatosis. </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 SCHWANNOMATOSIS 1</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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SMARCB1, 7-BP DEL, NT233
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<br />
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ClinVar: RCV000008493
|
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with schwannomatosis (SWN1; 162091), Hadfield et al. (2008) identified a heterozygous 7-bp deletion at the start of exon 3 of the SMARCB1 gene, predicted to result in a splicing defect. Tumor tissue from these patients showed loss of heterozygosity for SMARCB1 as well as biallelic loss of NF2 (607379). The findings suggested that 4 hits of these 2 genes may be necessary to develop schwannomas. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0009 SCHWANNOMATOSIS 1</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">
|
|
RHABDOID TUMOR PREDISPOSITION SYNDROME 1, INCLUDED
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCB1, 2,631-BP DUP
|
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<br />
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ClinVar: RCV000008494, RCV000008495
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with hereditary schwannomatosis (SWN1; 162091) spanning 4 generations, Swensen et al. (2009) identified a heterozygous germline 2,631-bp duplication in chromosome 22q11 that included exon 6 of the SMARCB1 gene. The mutation was predicted to result in premature protein termination. Two patients with mutations had malignant rhabdoid tumors (RTPS1; 609322), and a third was believed to have had a rhabdoid tumor. Two rhabdoid tumors and several schwannomas showed somatic loss of the SMARCB1 gene. </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>.0010 SCHWANNOMATOSIS 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCB1, GLU31VAL
|
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|
|
<br />
|
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|
|
SNP: rs267607072,
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|
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|
|
ClinVar: RCV000008496, RCV003231093, RCV004948133
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with multiple schwannomas (SWN1; 162091), Bacci et al. (2010) identified a heterozygous 92A-T transversion in exon 1 of the SMARCB1 gene, resulting in a glu31-to-val (E31V) substitution in a highly conserved residue. In silico analysis predicted that the E31V-mutant would disrupt a donor splice site, and RNA studies showed loss of the mutant transcript, suggesting altered splicing or nonsense-mediated decay. Three affected individuals with schwannomas also developed multiple meningiomas (607174), which Bacci et al. (2010) suggested should be considered a component of familial schwannomatosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SCHWANNOMATOSIS 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCB1, PRO48LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906811,
|
|
|
|
|
|
|
|
ClinVar: RCV000023122, RCV001321700
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members of a family with schwannomatosis (SWN1; 162091) and multiple meningiomas (607174), Christiaans et al. (2011) identified a heterozygous 143C-T transition in exon 2 of the SMARCB1 gene, resulting in a pro48-to-leu (P48L) substitution in a highly conserved residue. The mutation was not found in 100 controls. Meningiomas developed between ages 34 and 56 years, both in the cranium as extra-axial lesions and in the spinal cord as extramedullary lesions. In addition, 1 patient developed multiple chest wall and spinal schwannomas and another developed a vestibular schwannoma. Four meningiomas available for study all showed loss of the normal C allele in SMARCB1, which was transcribed into a stable mRNA. These findings were consistent with the 2-hit hypothesis of tumorigenesis. Two different meningioma tumors from the same patient also carried 2 different heterozygous somatic mutations in the NF2 gene (607379) as well as loss of heterozygosity at the NF2 locus. Christiaans et al. (2011) concluded that the SMARCB1 P48L mutation predisposed the carriers to the development of meningiomas. The mutation may also have predisposed carriers to schwannomas, implying that meningiomas may be part of the schwannomatosis tumor spectrum, but the schwannomas may also be coincidental findings. The role of the NF2 mutations was uncertain, but may contribute to a 4-hit hypothesis involving 2 genes. </p><p>Van den Munckhof et al. (2012) provided further studies of the family reported by Christiaans et al. (2011). Reexamination of tumor tissue from 4 meningiomas and 2 schwannomas showed that all tumors had LOH for both SMARCB1 and NF2, consistent with a deletion of a segment of chromosome 22 containing these 2 genes. Three meningiomas and 2 schwannomas were each found to carry somatic mutations in the NF2 gene. Thus, the genetic changes found in the 2 tumor types were the same and characteristic for SMARCB1-mutation positive tumors: retention of the exon 2 mutation, acquisition of an NF2 mutation, and LOH of the wildtype allele of both genes. In addition, van den Munckhof et al. (2012) identified 11 more carriers of the P48L mutation in this family. Eight of these 11 mutation carriers were found to carry 11 lesions suggestive of cranial meningioma and 6 spinal lesions consistent with meningiomas or schwannomas. Nine (82%) of the 11 cranial meningiomas were found in the falx cerebri. Van den Munckhof et al. (2012) concluded that meningiomas should be included in the schwannomatosis tumor spectrum. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 COFFIN-SIRIS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCB1, 3-BP DEL, 1091AGA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs875989800,
|
|
|
|
|
|
|
|
ClinVar: RCV000023121, RCV000377856, RCV002444438, RCV002504820
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients (patients 4, 21, and 22) with Coffin-Siris syndrome (CSS3; 614608), Tsurusaki et al. (2012) identified a heterozygous 3-bp in-frame deletion in the SMARCB1 gene (1091_1093delAGA) that resulted in deletion of lysine-364 (lys364del). The mutation was de novo in 2 cases, and parental samples were unavailable in the third. This mutation was not seen in any of 502 Japanese control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 COFFIN-SIRIS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCB1, ARG377HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906812,
|
|
|
|
|
|
gnomAD: rs387906812,
|
|
|
|
|
|
ClinVar: RCV000023124, RCV001017402, RCV001238882
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In Patient 11 with Coffin-Siris syndrome (CSS3; 614608), Tsurusaki et al. (2012) detected a heterozygous de novo G-to-A transition at nucleotide 1130 of the SMARCB1 gene that resulted in an arg-to-his substitution at codon 377 (R377H). This mutation was not seen in any of 500 Japanese control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 COFFIN-SIRIS SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCB1, ARG37HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122368,
|
|
|
|
|
|
|
|
ClinVar: RCV000074462, RCV000262341, RCV001533133, RCV004556052
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with Coffin-Siris syndrome (CSS3; 614608), Kleefstra et al. (2012) identified a de novo heterozygous G-to-A transition at nucleotide 110 of the SMARCB1 gene, resulting in an arg-to-his substitution at codon 37 (R37H). Kleefstra et al. (2012) described the phenotype as Kleefstra syndrome spectrum disorder (KSS). Neonatally, Down syndrome was suspected. Shunting was required at the age of 2.5 years for hydrocephalus, and the patient later required a plexectomy because of high cerebrospinal fluid production. In addition to intellectual disability and childhood hypotonia, the patient had brachycephaly, midface hypoplasia, coarse facies, hypertelorism, synophrys, short nose, anteverted nostrils, macroglossia, tented and cupid-bowed upper lip, and brachydactyly. </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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., Papi, L.
|
|
<strong>Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.</strong>
|
|
Neurogenetics 11: 73-80, 2010.
|
|
|
|
|
|
[PubMed: 19582488]
|
|
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|
|
|
[Full Text: https://doi.org/10.1007/s10048-009-0204-2]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Christiaans, I., Kenter, S. B., Brink, H. C., van Os, T. A. M., Baas, F., van den Munckhof, P., Kidd, A. M. J., Hulsebos, T. J. M.
|
|
<strong>Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.</strong>
|
|
J. Med. Genet. 48: 93-97, 2011.
|
|
|
|
|
|
[PubMed: 20930055]
|
|
|
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|
|
[Full Text: https://doi.org/10.1136/jmg.2010.082420]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hadfield, K. D., Newman, W. G., Bowers, N. L., Wallace, A., Bolger, C., Colley, A., McCann, E., Trump, D., Prescott, T., Evans, D. G. R.
|
|
<strong>Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.</strong>
|
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Ada Hamosh - updated : 03/24/2020<br>Patricia A. Hartz - updated : 03/09/2017<br>Ada Hamosh - updated : 11/26/2013<br>Cassandra L. Kniffin - updated : 6/20/2012<br>Ada Hamosh - updated : 4/30/2012<br>Patricia A. Hartz - updated : 12/19/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Cassandra L. Kniffin - updated : 3/6/2008<br>Paul J. Converse - updated : 5/21/2007<br>Victor A. McKusick - updated : 3/27/2007<br>Patricia A. Hartz - updated : 9/28/2005<br>Patricia A. Hartz - updated : 4/19/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Stylianos E. Antonarakis - updated : 7/3/2001<br>Victor A. McKusick - updated : 1/16/2001<br>Victor A. McKusick - updated : 4/13/2000<br>Victor A. McKusick - updated : 12/9/1999<br>Victor A. McKusick - updated : 11/15/1999<br>Victor A. McKusick - updated : 12/7/1998<br>Victor A. McKusick - updated : 8/3/1998
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