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- *600014 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600014</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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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600014">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 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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</nav>
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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=ENSG00000080503;t=ENST00000349721" 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=6595" 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=600014" 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=ENSG00000080503;t=ENST00000349721" 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_001289396,NM_001289397,NM_001289398,NM_001289399,NM_001289400,NM_003070,NM_139045" 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_003070" 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=600014" 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=02483&isoform_id=02483_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/SMARCA2" 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/414117,2351844,21753063,48255898,48255900,62089477,119579215,119579216,119579217,119579218,119579219,194382982,194388750,194389146,194390266,212276472,574957243,574957245,574957247,574957249,574957251,2227674923,2227674925,2227674927" 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/P51531" 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=6595" 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=ENSG00000080503;t=ENST00000349721" 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=SMARCA2" 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=SMARCA2" 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+6595" 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/SMARCA2" 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:6595" 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/6595" 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=chr9&hgg_gene=ENST00000349721.8&hgg_start=2015347&hgg_end=2193620&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:11098" 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:11098" 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/smarca2" 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=600014[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=600014[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/SMARCA2/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/ENSG00000080503" 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=SMARCA2" 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=SMARCA2" 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=SMARCA2" 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=SMARCA2&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/PA35948" 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:11098" 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/FBgn0000212.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:99603" 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/SMARCA2#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:99603" 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/6595/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=6595" 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=WBGene00004204;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-030131-5964" 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:6595" 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=SMARCA2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 401046009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600014
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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 A, MEMBER 2; SMARCA2
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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>
|
|
<span class="mim-font">
|
|
SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 2; SNF2L2<br />
|
|
SNF2-LIKE 2<br />
|
|
SNF2/SWI2, YEAST, HOMOLOG OF<br />
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|
BRM, DROSOPHILA, HOMOLOG OF; BRM
|
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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=SMARCA2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SMARCA2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/9/14?start=-3&limit=10&highlight=14">9p24.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:2015347-2193620&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'})">9:2,015,347-2,193,620</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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619293,601358" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/14?start=-3&limit=10&highlight=14">
|
|
9p24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Blepharophimosis-impaired intellectual development syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619293"> 619293 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<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>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Nicolaides-Baraitser syndrome
|
|
|
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</span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The SMARCA2 gene encodes a helicase-related catalytic subunit of a complex involved in chromatin remodeling that regulates gene expression (summary by <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" 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 yeast protein SNF2, also known as SWI2, is involved in transcriptional activation of numerous genes. It contains a domain that is highly conserved among several known helicases and is required for transcriptional activity. SNF2/SWI2 is highly homologous to the Drosophila protein 'brahma' (brm). In human cells, <a href="#11" class="mim-tip-reference" title="Muchardt, C., Yaniv, M. <strong>A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor.</strong> EMBO J. 12: 4279-4290, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8223438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8223438</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1993.tb06112.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8223438">Muchardt and Yaniv (1993)</a> identified SMARCA2, the homolog of yeast SNF2/SWI2 and Drosophila brm. The human SMARCA2 protein is 56% identical and 72% homologous to Drosophila brm. See also SMARCA1 (<a href="/entry/300012">300012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8223438" 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="#7" class="mim-tip-reference" title="Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others. <strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong> Hum. Molec. Genet. 18: 2483-2494, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>] [<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363039">Koga et al. (2009)</a> noted that the SMARCA2 gene contains 34 exons spanning 178.2 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By interspecific backcross linkage analysis, <a href="#12" class="mim-tip-reference" title="Pilz, A., Woodward, K., Povey, S., Abbott, C. <strong>Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse.</strong> Genomics 25: 139-149, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774911</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80119-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7774911">Pilz et al. (1995)</a> mapped the Snf2l2 gene to mouse chromosome 19. <a href="#10" class="mim-tip-reference" title="Muchardt, C., Yaniv, M., Mattei, M.-G. <strong>Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization.</strong> Mammalian Genome 5: 241-243, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012116</a>] [<a href="https://doi.org/10.1007/BF00360554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012116">Muchardt et al. (1994)</a> mapped the BRM gene in the human to chromosome 9p24-p23 by isotopic in situ hybridization. <a href="#5" class="mim-tip-reference" title="Ion, R., Telvi, L., Chaussain, J.-L., Barbet, J. P., Nunes, M., Safar, A., Rethore, M.-O., Fellous, M., McElreavey, K. <strong>Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.</strong> Hum. Genet. 102: 151-156, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521582</a>] [<a href="https://doi.org/10.1007/s004390050669" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9521582">Ion et al. (1998)</a> refined the localization of the SMARCA2 gene to chromosome 9p24.1 using a fluorescence in situ hybridization technique with fluorescently-labeled YACs. <a href="#7" class="mim-tip-reference" title="Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others. <strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong> Hum. Molec. Genet. 18: 2483-2494, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>] [<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363039">Koga et al. (2009)</a> stated that the SMARCA2 gene maps to chromosome 9p24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19363039+9521582+7774911+8012116" 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="Muchardt, C., Reyes, J. C., Bourachot, B., Leguoy, E., Yaniv, M. <strong>The hbrm and BRG-1 proteins, components of the human SNF/SWI complex, are phosphorylated and excluded from the condensed chromosomes during mitosis.</strong> EMBO J. 15: 3394-3402, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670841</a>]" pmid="8670841">Muchardt et al. (1996)</a> found that the human homolog of brm and another protein, BRG1 (<a href="/entry/603254">603254</a>), are phosphorylated during mitosis. Although the 2 proteins show nuclear localization during interphase, they are excluded from the condensed chromosomes during mitosis. They found that the level of BRM, but not BRG1, was strongly reduced during mitosis. Phosphorylation of BRM and BRG1 did not disrupt their association with SNF5 but correlated with a decreased affinity for the nuclear structure in early M phase. The authors suggested that chromosomal exclusion of the human SNF/SWI complex at the G2-M transition is part of the mechanism leading to transcriptional arrest during mitosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8670841" 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>Mammalian SWI/SNF complexes are ATP-dependent chromatin remodeling enzymes that have been implicated in the regulation of gene expression, cell cycle control, and oncogenesis. MyoD (MYOD1; <a href="/entry/159970">159970</a>) is a muscle-specific regulator capable of inducing myogenesis in numerous cell types. To ascertain the requirement for chromatin remodeling enzymes in cellular differentiation processes, <a href="#2" class="mim-tip-reference" title="de la Serna, I. L., Carlson, K. A., Imbalzano, A. N. <strong>Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation.</strong> Nature Genet. 27: 187-190, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175787</a>] [<a href="https://doi.org/10.1038/84826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11175787">de la Serna et al. (2001)</a> examined MyoD-mediated induction of muscle differentiation in fibroblasts expressing dominant-negative versions of the human brahma-related gene-1 (BRG1; <a href="/entry/603254">603254</a>) or human brahma, the ATPase subunits of 2 distinct SWI/SNF enzymes. They found that induction of the myogenic phenotype was completely abrogated in the presence of the mutant enzymes. They further demonstrated that failure to induce muscle-specific gene expression correlated with inhibition of chromatin remodeling in the promoter region of an endogenous muscle-specific gene. The results demonstrated that SWI/SNF enzymes promote MyoD-mediated muscle differentiation and indicated that these enzymes function by altering chromatin structure in promoter regions of endogenous, differentiation-specific loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Hakimi, M.-A., Bochar, D. A., Schmiesing, J. A., Dong, Y., Barak, O. G., Speicher, D. W., Yokomori, K., Shiekhattar, R. <strong>A chromatin remodelling complex that loads cohesin onto human chromosomes.</strong> Nature 418: 994-998, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12198550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12198550</a>] [<a href="https://doi.org/10.1038/nature01024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12198550">Hakimi et al. (2002)</a> reported the isolation of a human SNF2-containing chromatin remodeling complex that encompasses components of the cohesin and NURD (see <a href="/entry/603526">603526</a>) complexes. They showed that the RAD21 (<a href="/entry/606462">606462</a>) subunit of the cohesin complex directly interacts with the ATPase subunit SNF2. Mapping of RAD21, SNF2, and Mi2 (see <a href="/entry/603277">603277</a>) binding sites by chromatin immunoprecipitation experiments revealed the specific association of these 3 proteins with human DNA elements containing alu sequences. <a href="#3" class="mim-tip-reference" title="Hakimi, M.-A., Bochar, D. A., Schmiesing, J. A., Dong, Y., Barak, O. G., Speicher, D. W., Yokomori, K., Shiekhattar, R. <strong>A chromatin remodelling complex that loads cohesin onto human chromosomes.</strong> Nature 418: 994-998, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12198550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12198550</a>] [<a href="https://doi.org/10.1038/nature01024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12198550">Hakimi et al. (2002)</a> found a correlation between modification of histone tails and association of the SNF2/cohesin complex with chromatin. In addition, they showed that the association of the cohesin complex with chromatin can be regulated by the state of DNA methylation. Finally, they presented evidence pointing to a role for the ATPase activity of SNF2 in the loading of RAD21 on chromatin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12198550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kadam, S., Emerson, B. M. <strong>Transcriptional specificity of human SWI/SNF BRG1 and BRM chromatin remodeling complexes.</strong> Molec. Cell 11: 377-389, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12620226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12620226</a>] [<a href="https://doi.org/10.1016/s1097-2765(03)00034-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12620226">Kadam and Emerson (2003)</a> showed that BRG1 and BRM associate with different promoters during cellular proliferation and differentiation, and in response to specific signaling pathways by preferential interaction with certain classes of transcription factors. BRG1 binds to zinc finger proteins through a unique N-terminal domain that is not present in BRM. BRM interacts with 2 ankyrin repeat proteins that are critical components of Notch signal transduction. The authors concluded that BRG1 and BRM complexes may direct distinct cellular processes by recruitment to specific promoters through protein-protein interactions that are unique to each ATPase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12620226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Harikrishnan, K. N., Chow, M. Z., Baker, E. K., Pal, S., Bassal, S., Brasacchio, D., Wang, L., Craig, J. M., Jones, P. L., Sif, S., El-Osta, A. <strong>Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.</strong> Nature Genet. 37: 254-264, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696166</a>] [<a href="https://doi.org/10.1038/ng1516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696166">Harikrishnan et al. (2005)</a> found that BRM associated with MECP2 (<a href="/entry/300005">300005</a>) in mouse fibroblasts and human T-lymphoblastic leukemia cells, and the association was functionally linked with repression. Promoter methylation specified the recruitment of MECP2 and BRM, and inhibition of methylation caused their release. The MECP2-BRM corepressor complex was directly recruited to the FMR1 gene (<a href="/entry/309550">309550</a>), and somatic knockdown in fragile X cells alleviated the repression. <a href="#4" class="mim-tip-reference" title="Harikrishnan, K. N., Chow, M. Z., Baker, E. K., Pal, S., Bassal, S., Brasacchio, D., Wang, L., Craig, J. M., Jones, P. L., Sif, S., El-Osta, A. <strong>Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.</strong> Nature Genet. 37: 254-264, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696166</a>] [<a href="https://doi.org/10.1038/ng1516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15696166">Harikrishnan et al. (2005)</a> concluded that both MECP2 and components of the SWI/SNF complex are involved in gene repression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696166" 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="#8" class="mim-tip-reference" title="Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron-Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L., Pupko, T., Gorwood, P., Simonneau, M., Moalic, J.-M. <strong>SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.</strong> Hum. Molec. Genet. 19: 2841-2857, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20457675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20457675</a>] [<a href="https://doi.org/10.1093/hmg/ddq184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20457675">Loe-Mie et al. (2010)</a> showed that an SWI/SNF-centered network including the Smarca2 gene was modified by the downregulation of REST/NRSF (<a href="/entry/600571">600571</a>) in a mouse neuronal cell line. REST/NRSF downregulation also modified the levels of Smarce1 (<a href="/entry/603111">603111</a>), Smarcd3 (<a href="/entry/601737">601737</a>), and SWI/SNF interactors Hdac1 (<a href="/entry/601241">601241</a>), RcoR (<a href="/entry/607675">607675</a>), and Mecp2 (<a href="/entry/300005">300005</a>). Smarca2 downregulation generated an abnormal dendritic spine morphology that was an intermediate phenotype of schizophrenia (see <a href="/entry/181500">181500</a>). The authors noted that 8 genomewide-supported schizophrenia-associated genes (SMARCA2; CSF2RA, <a href="/entry/306250">306250</a>; HIST1H2BJ, <a href="/entry/615044">615044</a>; NOTCH4, <a href="/entry/164951">164951</a>; NRGN, <a href="/entry/602350">602350</a>; SHOX, <a href="/entry/312865">312865</a>; TCF4, <a href="/entry/602272">602272</a>; and ZNF804A, <a href="/entry/612282">612282</a>) are part of an interacting network; 5 of the 8 encode transcription regulators, and 3 (TCF4, SMARCA2, and CSF2RA) were modified at the level of expression when the REST/NRSF-SWI/SNF chromatin remodeling complex was experimentally manipulated in mouse cell lines and in transgenic mouse models. REST/NRSF-SWI/SNF deregulation also resulted in the differential expression of genes that are clustered in chromosomes, suggesting the induction of genomewide epigenetic changes. <a href="#8" class="mim-tip-reference" title="Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron-Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L., Pupko, T., Gorwood, P., Simonneau, M., Moalic, J.-M. <strong>SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.</strong> Hum. Molec. Genet. 19: 2841-2857, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20457675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20457675</a>] [<a href="https://doi.org/10.1093/hmg/ddq184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20457675">Loe-Mie et al. (2010)</a> concluded that the SWI/SNF chromatin remodeling complex is a key component of the genetic architecture of schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20457675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Nicolaides-Baraitser Syndrome</em></strong></p><p>
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In 36 of 44 individuals with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified de novo heterozygous missense mutations in the SMARCA2 gene (see, e.g., <a href="#0001">600014.0001</a>-<a href="#0012">600014.0012</a>). The mutations clustered within sequences that encode ultraconserved motifs in the catalytic ATPase region of the protein. These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C. <strong>In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.</strong> Molec. Syndromol. 2: 237-244, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22822383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22822383</a>] [<a href="https://doi.org/10.1159/000337323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22822383">Wolff et al. (2012)</a> reported 3 additional patients with SMARCA2 mutations causing Nicolaides-Baraitser syndrome. One was an in-frame deletion and 2 were missense mutations in the C-terminal helicase domain, in one patient resulting in a relative preservation of intellectual functioning despite classic dysmorphism (see <a href="#0014">600014.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22822383" 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>Blepharophimosis-Impaired Intellectual Development Syndrome</em></strong></p><p>
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In 14 patients with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified de novo heterozygous missense mutations in the SMARCA2 gene (see, e.g., <a href="#0015">600014.0015</a>-<a href="#0019">600014.0019</a>). The mutations, which were found by genome, exome, or targeted sequencing and confirmed by Sanger sequencing, were not present in the gnomAD database. The mutations clustered in 2 regions located outside of the catalytic ATPase helicase domains. Some occurred in exons 8 or 9, corresponding to a region between the HSA and helicase ATP-binding domain, whereas others occurred in exon 19, mapping to the linker region located between the DExx helicase ATP-binding and helicase C-terminal domains. Structural analysis of the variants using the yeast homolog (Snf2) showed that the residues mutated in BIS are on an alpha-helix that is likely at the interface with other members of the SWI/SNF complex. Introduction of mutations corresponding to E929V and R937L (<a href="#0018">600014.0018</a> and <a href="#0019">600014.0019</a>) in yeast showed no growth abnormalities, being similar to wildtype. RNA-seq transcriptome analysis of blood derived from 2 patients (patients 1 and 9) showed some differential gene expression profiles compared to cells from patients with NCBRS. However, there was a close expression profile shared by BIS and NCBRS compared to controls. Cells from patients with BIS and NCBRS also showed some differences in methylation signature patterns. Additional functional studies of the variants were not performed. The authors concluded that SMARCA2 variants outside of the helicase domain result in a phenotypically and molecularly distinct disorder from NCBRS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" 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>Association with Schizophrenia</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others. <strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong> Hum. Molec. Genet. 18: 2483-2494, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>] [<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363039">Koga et al. (2009)</a> reported an association between schizophrenia (see <a href="/entry/181500">181500</a>) and 3 SNPs in 2 linkage disequilibrium blocks of the SMARCA2 gene in the Japanese population. A risk allele of a missense polymorphism in exon 33 (D1546E; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2296212;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2296212</a>) induced a lower nuclear localization efficiency of BRM, and risk alleles of intronic polymorphisms (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3763627;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3763627</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3793490;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3793490</a>) were associated with low SMARCA2 expression levels in the postmortem prefrontal cortex. The fold change of gene expression of 606 genes from schizophrenia prefrontal cortex samples (SMRI database) was significantly correlated with expression changes seen in transfected human T98G cells. <a href="#7" class="mim-tip-reference" title="Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others. <strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong> Hum. Molec. Genet. 18: 2483-2494, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>] [<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363039">Koga et al. (2009)</a> proposed a role for BRM in the pathophysiology of schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363039" 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="#7" class="mim-tip-reference" title="Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others. <strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong> Hum. Molec. Genet. 18: 2483-2494, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>] [<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19363039">Koga et al. (2009)</a> generated Smarca2-knockout mice, which showed impaired social interaction and prepulse inhibition. Psychogenic drugs, such as MK-801 or methamphetamine, lowered Smarca2 expression, while antipsychotic drugs, such as haloperidol or olanzapine, increased Smarca2 expression in the brain of 4-week-old wildtype mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363039" 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">rs281875238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875238;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=rs281875238" 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=rs281875238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with typical features of Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 3637 in exon 25 of the SMARCA2 gene, resulting in an arg-to-trp substitution at codon 1213 (R1213W). This mutation was not identified in 1,300 exomes of unaffected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" 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">rs281875239 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875239;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=rs281875239" 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=rs281875239" 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=RCV000022909 OR RCV000059681" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022909, RCV000059681" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022909...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>) who underwent whole-exome sequencing, <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous G-to-T transversion at nucleotide 3604 in exon 25 of the SMARCA2 gene, resulting in a gly-to-cys substitution at codon 1202 (G1202C). This mutation occurred de novo and was not found in 1,300 exomes of unaffected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 NICOLAIDES-BARAITSER SYNDROME</strong>
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SMARCA2, ARG1159GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875187;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=rs281875187" 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=rs281875187" 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=RCV000022910 OR RCV000059676 OR RCV001533105" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022910, RCV000059676, RCV001533105" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022910...</a>
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<p>In 2 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous G-to-A transition at nucleotide 3476 in exon 25 of the SMARCA2 gene, resulting in an arg-to-gln substitution at codon 1159 (R1159Q). This mutation occurred as a de novo event in both individuals and was not identified in 1,300 exomes from unaffected individuals. <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified different mutations at this codon in other patients (<a href="#0005">600014.0005</a>, <a href="#0008">600014.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 NICOLAIDES-BARAITSER SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875240 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875240;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=rs281875240" 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=rs281875240" 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=RCV000022911 OR RCV000059674" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022911, RCV000059674" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022911...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a de novo heterozygous A-to-T transversion at nucleotide 3473 in exon 25 of the SMARCA2 gene, resulting in an asp-to-val substitution at codon 1158 (D1158V). This mutation was not present in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 NICOLAIDES-BARAITSER SYNDROME</strong>
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SMARCA2, ARG1159GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875184 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875184;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=rs281875184" 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=rs281875184" 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=RCV000022912 OR RCV000059675" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022912, RCV000059675" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022912...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a de novo heterozygous C-to-G transversion at nucleotide 3475 in exon 25 of the SMARCA2 gene, resulting in an arg-to-gly substitution at codon 1159 (R1159G). This mutation was not present in 1,300 control exomes. <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified different mutations at this codon in other patients (<a href="#0003">600014.0003</a>, <a href="#0008">600014.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 NICOLAIDES-BARAITSER SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875185;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=rs281875185" 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=rs281875185" 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=RCV000022913 OR RCV000059665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022913, RCV000059665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022913...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous G-to-T transversion at nucleotide 2642 in exon 18 of the SMARCA2 gene, resulting in a gly-to-val substitution at codon 881 (G881V). This mutation was not present in the patient's mother (no sample from the father was available), nor was it seen in 1,300 exomes from unaffected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 NICOLAIDES-BARAITSER SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281875186 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875186;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/rs281875186?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=rs281875186" 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=rs281875186" 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=RCV000022914 OR RCV000059678" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022914, RCV000059678" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022914...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a de novo heterozygous G-to-A transition at nucleotide 3485 in exon 25 of the SMARCA2 gene, resulting in an arg-to-his substitution at codon 1162 (R1162H). This mutation was not seen in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 NICOLAIDES-BARAITSER SYNDROME</strong>
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SMARCA2, ARG1159LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875187;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=rs281875187" 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=rs281875187" 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=RCV000022915 OR RCV000059677" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022915, RCV000059677" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022915...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous G-to-T transversion at nucleotide 3476 in exon 25 of the SMARCA2 gene, resulting in an arg-to-leu substitution at codon 1159 (R1159L). Neither parent was available for testing. This mutation was not identified in 1,300 control exomes. <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified different mutations at this codon in other patients (<a href="#0003">600014.0003</a>, <a href="#0005">600014.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 NICOLAIDES-BARAITSER SYNDROME</strong>
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SMARCA2, PRO883LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875188 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875188;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=rs281875188" 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=rs281875188" 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=RCV000022916 OR RCV000059666 OR RCV001533103" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022916, RCV000059666, RCV001533103" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022916...</a>
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<p>In 3 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 2648 in exon 18 of the SMARCA2 gene, resulting in a pro-to-leu substitution at codon 883 (P883L). In one individual the mutation was shown to have occurred de novo; parents of the other 2 individuals were unavailable for testing. This mutation was not seen in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 NICOLAIDES-BARAITSER SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281875189 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875189;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/rs281875189?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=rs281875189" 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=rs281875189" 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=RCV000022917 OR RCV000059680 OR RCV001260811 OR RCV001261297" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022917, RCV000059680, RCV001260811, RCV001261297" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022917...</a>
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<p>In 3 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous C-to-T transition at nucleotide 3602 in exon 25 of the SMARCA2 gene, resulting in a ala-to-val substitution at codon 1201 (A1201V). In 2 of the patients the mutation was confirmed to have occurred de novo. The mutation was not seen in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<strong>.0011 NICOLAIDES-BARAITSER SYNDROME</strong>
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SMARCA2, HIS939TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875190;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=rs281875190" 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=rs281875190" 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=RCV000022918 OR RCV000059667" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022918, RCV000059667" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022918...</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a heterozygous de novo C-to-T transition at nucleotide 2815 in exon 19 of the SMARCA2 gene, resulting in a his-to-tyr substitution at codon 939 (H939Y). This mutation was not seen in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 NICOLAIDES-BARAITSER SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs281875198 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281875198;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=rs281875198" 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=rs281875198" 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=RCV000022919 OR RCV000059656" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022919, RCV000059656" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022919...</a>
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<p>In monozygotic twins with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), originally reported by <a href="#13" class="mim-tip-reference" title="Sousa, S. B., Abdul-Rahman, O. A., Bottani, A., Cormier-Daire, V., Fryer, A., Gillessen-Kaesbach, G., Horn, D., Josifova, D., Kuechler, A., Lees, M., MacDermot, K., Magee, A., and 9 others. <strong>Nicolaides-Baraitser syndrome: delineation of the phenotype.</strong> Am. J. Med. Genet. 149A: 1628-1640, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19606471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19606471</a>] [<a href="https://doi.org/10.1002/ajmg.a.32956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19606471">Sousa et al. (2009)</a>, <a href="#15" class="mim-tip-reference" title="Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others. <strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong> Nature Genet. 44: 445-449, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>] [<a href="https://doi.org/10.1038/ng.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366787">Van Houdt et al. (2012)</a> identified a G-to-C transversion at nucleotide 2255 in exon 15 of the SMARCA2 gene, resulting in a gly-to-ala substitution at codon 752 (G752A). Neither parent was available for testing. This mutation was not seen in 1,300 control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22366787+19606471" 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=RCV000022920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022920</a>
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#14" 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 55-kb interstitial deletion of SMARCA2 arising as a de novo occurrence. The deletion resulted in skipping of exons 20 through 27. The patient, subject 19, did not have sparse hair but did have developmental delay, hypotonia, and microcephaly, as well as vision problems, hearing loss, and seizures. He was noted to be hirsute, with thick eyebrows, long eyelashes, and abnormal dentition, and had a coarse facial appearance with flat nasal bridge, broad nose, wide mouth, thick lips, and abnormal ears. Spinal anomalies, delayed bone age, feeding problems, and intestinal anomalies were also present. Although the phenotype of the patient was classified as Coffin-Siris syndrome (<a href="/entry/135900">135900</a>), the patient lacked absent/hypoplastic fifth phalanx of hands or feet and corresponding nails. <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">rs387907194 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907194;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=rs387907194" 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=rs387907194" 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=RCV000024365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024365</a>
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<p>In a 9-year-old boy with Nicolaides-Baraitser syndrome (NCBRS; <a href="/entry/601358">601358</a>), <a href="#16" class="mim-tip-reference" title="Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C. <strong>In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.</strong> Molec. Syndromol. 2: 237-244, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22822383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22822383</a>] [<a href="https://doi.org/10.1159/000337323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22822383">Wolff et al. (2012)</a> detected a heterozygous de novo G-to-A transition at nucleotide 3395 in the SMARCA2 gene, resulting in a gly-to-asp substitution at codon 1132 (G1132D). The glycine at position 1132 resides in the helicase domain and is conserved among species from human to zebrafish. Birth parameters were at the tenth percentile and height was at the fifth percentile at 9 years of age. <a href="#16" class="mim-tip-reference" title="Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C. <strong>In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.</strong> Molec. Syndromol. 2: 237-244, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22822383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22822383</a>] [<a href="https://doi.org/10.1159/000337323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22822383">Wolff et al. (2012)</a> reported that the child had a borderline IQ of 74 with relatively good verbal skills and no autistic features. Dysmorphologic features typical of Nicolaides-Baraitser syndrome were present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22822383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1586657848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586657848;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=rs1586657848" 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=rs1586657848" 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=RCV001029747 OR RCV001266425 OR RCV001375918 OR RCV001559851" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001029747, RCV001266425, RCV001375918, RCV001559851" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001029747...</a>
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<p>In a 9-year-old girl (patient 1) with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified a de novo heterozygous c.1514G-A transition (c.1514G-A, NM_001289396) in exon 8 of the SMARCA2 gene, resulting in an arg505-to-gln (R505Q) substitution at a conserved residue between the HSA and helicase ATP-binding domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1586660381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586660381;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=rs1586660381" 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=rs1586660381" 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=RCV001029748 OR RCV001375919 OR RCV002462259 OR RCV004962995" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001029748, RCV001375919, RCV002462259, RCV004962995" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001029748...</a>
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<p>In 2 girls (patients 3 and 4) with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified a de novo heterozygous c.1574G-A transition (c.1574G-A, NM_001289396) in exon 9 of the SMARCA2 gene, resulting in an arg525-to-his (R525H) substitution at a conserved residue between the HSA and helicase ATP-binding domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1586660370 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586660370;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=rs1586660370" 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=rs1586660370" 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=RCV001029745 OR RCV001375920 OR RCV001683727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001029745, RCV001375920, RCV001683727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001029745...</a>
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<p>In 2 girls (patients 5 and 6) with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified a de novo heterozygous c.1573C-T transition (c.1573C-T, NM_001289396) in exon 9 of the SMARCA2 gene, resulting in an arg525-to-cys (R525C) substitution at a conserved residue between the HSA and helicase ATP-binding domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1586692481 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586692481;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=rs1586692481" 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=rs1586692481" 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=RCV001027658 OR RCV001375921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001027658, RCV001375921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001027658...</a>
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<p>In a 9-year-old boy (patient 9) with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified a de novo heterozygous c.2786A-T transversion (c.2786A-T, NM_001289396) in exon 19 of the SMARCA2 gene, resulting in a glu929-to-val (E929V) substitution at a conserved residue in the linker region between the DExx helicase ATP-binding and helicase C-terminal domains. The mutation, which was found by targeted sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1586692551 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1586692551;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=rs1586692551" 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=rs1586692551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001027661 OR RCV001375922" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001027661, RCV001375922" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001027661...</a>
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<p>In 2 boys (patients 12 and 13) with blepharophimosis-impaired intellectual development syndrome (BIS; <a href="/entry/619293">619293</a>), <a href="#1" class="mim-tip-reference" title="Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others. <strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong> Genet. Med. 22: 1838-185, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>] [<a href="https://doi.org/10.1038/s41436-020-0898-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32694869">Cappuccio et al. (2020)</a> identified a de novo heterozygous c.2810G-T transversion (c.2810G-T, NM_001289396) in exon 19 of the SMARCA2 gene, resulting in an arg937-to-leu (R937L) substitution at a conserved residue in the linker region between the DExx helicase ATP-binding and helicase C-terminal domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others.
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<strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong>
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Genet. Med. 22: 1838-185, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32694869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32694869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32694869" 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/s41436-020-0898-y" target="_blank">Full Text</a>]
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de la Serna, I. L., Carlson, K. A., Imbalzano, A. N.
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<strong>Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation.</strong>
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Nature Genet. 27: 187-190, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175787" 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/10.1038/84826" target="_blank">Full Text</a>]
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Hakimi, M.-A., Bochar, D. A., Schmiesing, J. A., Dong, Y., Barak, O. G., Speicher, D. W., Yokomori, K., Shiekhattar, R.
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<strong>A chromatin remodelling complex that loads cohesin onto human chromosomes.</strong>
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Nature 418: 994-998, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12198550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12198550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12198550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Harikrishnan, K. N., Chow, M. Z., Baker, E. K., Pal, S., Bassal, S., Brasacchio, D., Wang, L., Craig, J. M., Jones, P. L., Sif, S., El-Osta, A.
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<strong>Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.</strong>
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Nature Genet. 37: 254-264, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15696166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15696166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15696166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ion, R., Telvi, L., Chaussain, J.-L., Barbet, J. P., Nunes, M., Safar, A., Rethore, M.-O., Fellous, M., McElreavey, K.
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<strong>Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.</strong>
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Hum. Genet. 102: 151-156, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9521582" 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/s004390050669" target="_blank">Full Text</a>]
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Kadam, S., Emerson, B. M.
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<strong>Transcriptional specificity of human SWI/SNF BRG1 and BRM chromatin remodeling complexes.</strong>
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Molec. Cell 11: 377-389, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12620226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12620226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12620226" 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(03)00034-0" target="_blank">Full Text</a>]
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<a id="Koga2009" class="mim-anchor"></a>
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Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others.
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<strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong>
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Hum. Molec. Genet. 18: 2483-2494, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19363039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19363039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19363039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp166" target="_blank">Full Text</a>]
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<a id="Loe-Mie2010" class="mim-anchor"></a>
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Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron-Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L., Pupko, T., Gorwood, P., Simonneau, M., Moalic, J.-M.
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<strong>SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.</strong>
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Hum. Molec. Genet. 19: 2841-2857, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20457675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20457675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20457675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq184" target="_blank">Full Text</a>]
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<a id="Muchardt1996" class="mim-anchor"></a>
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Muchardt, C., Reyes, J. C., Bourachot, B., Leguoy, E., Yaniv, M.
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<strong>The hbrm and BRG-1 proteins, components of the human SNF/SWI complex, are phosphorylated and excluded from the condensed chromosomes during mitosis.</strong>
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EMBO J. 15: 3394-3402, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8670841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Muchardt1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Muchardt, C., Yaniv, M., Mattei, M.-G.
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<strong>Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization.</strong>
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Mammalian Genome 5: 241-243, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012116" 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/BF00360554" target="_blank">Full Text</a>]
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Muchardt, C., Yaniv, M.
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<strong>A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor.</strong>
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EMBO J. 12: 4279-4290, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8223438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8223438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8223438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1993.tb06112.x" target="_blank">Full Text</a>]
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Pilz, A., Woodward, K., Povey, S., Abbott, C.
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<strong>Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse.</strong>
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Genomics 25: 139-149, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7774911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7774911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7774911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80119-7" target="_blank">Full Text</a>]
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<a id="Sousa2009" class="mim-anchor"></a>
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Sousa, S. B., Abdul-Rahman, O. A., Bottani, A., Cormier-Daire, V., Fryer, A., Gillessen-Kaesbach, G., Horn, D., Josifova, D., Kuechler, A., Lees, M., MacDermot, K., Magee, A., and 9 others.
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<strong>Nicolaides-Baraitser syndrome: delineation of the phenotype.</strong>
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Am. J. Med. Genet. 149A: 1628-1640, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19606471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19606471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19606471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32956" target="_blank">Full Text</a>]
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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.
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<strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong>
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Nature Genet. 44: 376-378, 2012.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2219" target="_blank">Full Text</a>]
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Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others.
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<strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong>
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Nature Genet. 44: 445-449, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366787" 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.1105" target="_blank">Full Text</a>]
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Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C.
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<strong>In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.</strong>
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Molec. Syndromol. 2: 237-244, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22822383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22822383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22822383" 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/10.1159/000337323" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 04/26/2021
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George E. Tiller - updated : 8/27/2013<br>Ada Hamosh - updated : 6/5/2012<br>Ada Hamosh - updated : 4/30/2012<br>George E. Tiller - updated : 3/30/2010<br>Patricia A. Hartz - updated : 3/25/2005<br>Stylianos E. Antonarakis - updated : 4/18/2003<br>Ada Hamosh - updated : 9/17/2002<br>Victor A. McKusick - updated : 1/26/2001<br>Victor A. McKusick - updated : 4/1/1998<br>Perseveranda M. Cagas - updated : 4/9/1997
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Victor A. McKusick : 7/1/1994
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carol : 05/03/2021<br>alopez : 04/30/2021<br>ckniffin : 04/26/2021<br>carol : 11/06/2013<br>carol : 8/27/2013<br>tpirozzi : 8/27/2013<br>terry : 10/5/2012<br>alopez : 6/8/2012<br>terry : 6/5/2012<br>alopez : 5/3/2012<br>terry : 4/30/2012<br>carol : 4/5/2010<br>wwang : 4/2/2010<br>terry : 3/30/2010<br>mgross : 8/4/2005<br>mgross : 3/25/2005<br>mgross : 3/25/2005<br>mgross : 5/6/2004<br>mgross : 4/18/2003<br>mgross : 4/18/2003<br>alopez : 9/17/2002<br>terry : 12/7/2001<br>alopez : 1/29/2001<br>terry : 1/26/2001<br>alopez : 11/4/1998<br>carol : 8/19/1998<br>alopez : 4/1/1998<br>alopez : 4/1/1998<br>terry : 3/23/1998<br>terry : 3/23/1998<br>mark : 4/9/1997<br>mark : 4/9/1997<br>mark : 2/12/1997<br>joanna : 12/19/1996<br>terry : 2/7/1995<br>mimadm : 7/30/1994<br>jason : 7/29/1994<br>jason : 7/13/1994
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<strong>*</strong> 600014
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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2
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SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 2; SNF2L2<br />
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SNF2-LIKE 2<br />
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SNF2/SWI2, YEAST, HOMOLOG OF<br />
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BRM, DROSOPHILA, HOMOLOG OF; BRM
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<strong><em>HGNC Approved Gene Symbol: SMARCA2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 401046009;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9p24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:2,015,347-2,193,620 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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9p24.3
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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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Blepharophimosis-impaired intellectual development syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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619293
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Nicolaides-Baraitser syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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601358
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SMARCA2 gene encodes a helicase-related catalytic subunit of a complex involved in chromatin remodeling that regulates gene expression (summary by Cappuccio et al., 2020). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The yeast protein SNF2, also known as SWI2, is involved in transcriptional activation of numerous genes. It contains a domain that is highly conserved among several known helicases and is required for transcriptional activity. SNF2/SWI2 is highly homologous to the Drosophila protein 'brahma' (brm). In human cells, Muchardt and Yaniv (1993) identified SMARCA2, the homolog of yeast SNF2/SWI2 and Drosophila brm. The human SMARCA2 protein is 56% identical and 72% homologous to Drosophila brm. See also SMARCA1 (300012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Koga et al. (2009) noted that the SMARCA2 gene contains 34 exons spanning 178.2 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>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>By interspecific backcross linkage analysis, Pilz et al. (1995) mapped the Snf2l2 gene to mouse chromosome 19. Muchardt et al. (1994) mapped the BRM gene in the human to chromosome 9p24-p23 by isotopic in situ hybridization. Ion et al. (1998) refined the localization of the SMARCA2 gene to chromosome 9p24.1 using a fluorescence in situ hybridization technique with fluorescently-labeled YACs. Koga et al. (2009) stated that the SMARCA2 gene maps to chromosome 9p24.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene 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>Muchardt et al. (1996) found that the human homolog of brm and another protein, BRG1 (603254), are phosphorylated during mitosis. Although the 2 proteins show nuclear localization during interphase, they are excluded from the condensed chromosomes during mitosis. They found that the level of BRM, but not BRG1, was strongly reduced during mitosis. Phosphorylation of BRM and BRG1 did not disrupt their association with SNF5 but correlated with a decreased affinity for the nuclear structure in early M phase. The authors suggested that chromosomal exclusion of the human SNF/SWI complex at the G2-M transition is part of the mechanism leading to transcriptional arrest during mitosis. </p><p>Mammalian SWI/SNF complexes are ATP-dependent chromatin remodeling enzymes that have been implicated in the regulation of gene expression, cell cycle control, and oncogenesis. MyoD (MYOD1; 159970) is a muscle-specific regulator capable of inducing myogenesis in numerous cell types. To ascertain the requirement for chromatin remodeling enzymes in cellular differentiation processes, de la Serna et al. (2001) examined MyoD-mediated induction of muscle differentiation in fibroblasts expressing dominant-negative versions of the human brahma-related gene-1 (BRG1; 603254) or human brahma, the ATPase subunits of 2 distinct SWI/SNF enzymes. They found that induction of the myogenic phenotype was completely abrogated in the presence of the mutant enzymes. They further demonstrated that failure to induce muscle-specific gene expression correlated with inhibition of chromatin remodeling in the promoter region of an endogenous muscle-specific gene. The results demonstrated that SWI/SNF enzymes promote MyoD-mediated muscle differentiation and indicated that these enzymes function by altering chromatin structure in promoter regions of endogenous, differentiation-specific loci. </p><p>Hakimi et al. (2002) reported the isolation of a human SNF2-containing chromatin remodeling complex that encompasses components of the cohesin and NURD (see 603526) complexes. They showed that the RAD21 (606462) subunit of the cohesin complex directly interacts with the ATPase subunit SNF2. Mapping of RAD21, SNF2, and Mi2 (see 603277) binding sites by chromatin immunoprecipitation experiments revealed the specific association of these 3 proteins with human DNA elements containing alu sequences. Hakimi et al. (2002) found a correlation between modification of histone tails and association of the SNF2/cohesin complex with chromatin. In addition, they showed that the association of the cohesin complex with chromatin can be regulated by the state of DNA methylation. Finally, they presented evidence pointing to a role for the ATPase activity of SNF2 in the loading of RAD21 on chromatin. </p><p>Kadam and Emerson (2003) showed that BRG1 and BRM associate with different promoters during cellular proliferation and differentiation, and in response to specific signaling pathways by preferential interaction with certain classes of transcription factors. BRG1 binds to zinc finger proteins through a unique N-terminal domain that is not present in BRM. BRM interacts with 2 ankyrin repeat proteins that are critical components of Notch signal transduction. The authors concluded that BRG1 and BRM complexes may direct distinct cellular processes by recruitment to specific promoters through protein-protein interactions that are unique to each ATPase. </p><p>Harikrishnan et al. (2005) found that BRM associated with MECP2 (300005) in mouse fibroblasts and human T-lymphoblastic leukemia cells, and the association was functionally linked with repression. Promoter methylation specified the recruitment of MECP2 and BRM, and inhibition of methylation caused their release. The MECP2-BRM corepressor complex was directly recruited to the FMR1 gene (309550), and somatic knockdown in fragile X cells alleviated the repression. Harikrishnan et al. (2005) concluded that both MECP2 and components of the SWI/SNF complex are involved in gene repression. </p><p>Loe-Mie et al. (2010) showed that an SWI/SNF-centered network including the Smarca2 gene was modified by the downregulation of REST/NRSF (600571) in a mouse neuronal cell line. REST/NRSF downregulation also modified the levels of Smarce1 (603111), Smarcd3 (601737), and SWI/SNF interactors Hdac1 (601241), RcoR (607675), and Mecp2 (300005). Smarca2 downregulation generated an abnormal dendritic spine morphology that was an intermediate phenotype of schizophrenia (see 181500). The authors noted that 8 genomewide-supported schizophrenia-associated genes (SMARCA2; CSF2RA, 306250; HIST1H2BJ, 615044; NOTCH4, 164951; NRGN, 602350; SHOX, 312865; TCF4, 602272; and ZNF804A, 612282) are part of an interacting network; 5 of the 8 encode transcription regulators, and 3 (TCF4, SMARCA2, and CSF2RA) were modified at the level of expression when the REST/NRSF-SWI/SNF chromatin remodeling complex was experimentally manipulated in mouse cell lines and in transgenic mouse models. REST/NRSF-SWI/SNF deregulation also resulted in the differential expression of genes that are clustered in chromosomes, suggesting the induction of genomewide epigenetic changes. Loe-Mie et al. (2010) concluded that the SWI/SNF chromatin remodeling complex is a key component of the genetic architecture of schizophrenia. </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>Nicolaides-Baraitser Syndrome</em></strong></p><p>
|
|
In 36 of 44 individuals with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified de novo heterozygous missense mutations in the SMARCA2 gene (see, e.g., 600014.0001-600014.0012). The mutations clustered within sequences that encode ultraconserved motifs in the catalytic ATPase region of the protein. These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. </p><p>Wolff et al. (2012) reported 3 additional patients with SMARCA2 mutations causing Nicolaides-Baraitser syndrome. One was an in-frame deletion and 2 were missense mutations in the C-terminal helicase domain, in one patient resulting in a relative preservation of intellectual functioning despite classic dysmorphism (see 600014.0014). </p><p><strong><em>Blepharophimosis-Impaired Intellectual Development Syndrome</em></strong></p><p>
|
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In 14 patients with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified de novo heterozygous missense mutations in the SMARCA2 gene (see, e.g., 600014.0015-600014.0019). The mutations, which were found by genome, exome, or targeted sequencing and confirmed by Sanger sequencing, were not present in the gnomAD database. The mutations clustered in 2 regions located outside of the catalytic ATPase helicase domains. Some occurred in exons 8 or 9, corresponding to a region between the HSA and helicase ATP-binding domain, whereas others occurred in exon 19, mapping to the linker region located between the DExx helicase ATP-binding and helicase C-terminal domains. Structural analysis of the variants using the yeast homolog (Snf2) showed that the residues mutated in BIS are on an alpha-helix that is likely at the interface with other members of the SWI/SNF complex. Introduction of mutations corresponding to E929V and R937L (600014.0018 and 600014.0019) in yeast showed no growth abnormalities, being similar to wildtype. RNA-seq transcriptome analysis of blood derived from 2 patients (patients 1 and 9) showed some differential gene expression profiles compared to cells from patients with NCBRS. However, there was a close expression profile shared by BIS and NCBRS compared to controls. Cells from patients with BIS and NCBRS also showed some differences in methylation signature patterns. Additional functional studies of the variants were not performed. The authors concluded that SMARCA2 variants outside of the helicase domain result in a phenotypically and molecularly distinct disorder from NCBRS. </p><p><strong><em>Association with Schizophrenia</em></strong></p><p>
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Koga et al. (2009) reported an association between schizophrenia (see 181500) and 3 SNPs in 2 linkage disequilibrium blocks of the SMARCA2 gene in the Japanese population. A risk allele of a missense polymorphism in exon 33 (D1546E; rs2296212) induced a lower nuclear localization efficiency of BRM, and risk alleles of intronic polymorphisms (rs3763627 and rs3793490) were associated with low SMARCA2 expression levels in the postmortem prefrontal cortex. The fold change of gene expression of 606 genes from schizophrenia prefrontal cortex samples (SMRI database) was significantly correlated with expression changes seen in transfected human T98G cells. Koga et al. (2009) proposed a role for BRM in the pathophysiology of schizophrenia. </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>Koga et al. (2009) generated Smarca2-knockout mice, which showed impaired social interaction and prepulse inhibition. Psychogenic drugs, such as MK-801 or methamphetamine, lowered Smarca2 expression, while antipsychotic drugs, such as haloperidol or olanzapine, increased Smarca2 expression in the brain of 4-week-old wildtype mice. </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>19 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 NICOLAIDES-BARAITSER SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCA2, ARG1213TRP
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<br />
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SNP: rs281875238,
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ClinVar: RCV000022908, RCV000059683
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with typical features of Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous C-to-T transition at nucleotide 3637 in exon 25 of the SMARCA2 gene, resulting in an arg-to-trp substitution at codon 1213 (R1213W). This mutation was not identified in 1,300 exomes of unaffected individuals. </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 NICOLAIDES-BARAITSER SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCA2, GLY1202CYS
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<br />
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SNP: rs281875239,
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ClinVar: RCV000022909, RCV000059681
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358) who underwent whole-exome sequencing, Van Houdt et al. (2012) identified a heterozygous G-to-T transversion at nucleotide 3604 in exon 25 of the SMARCA2 gene, resulting in a gly-to-cys substitution at codon 1202 (G1202C). This mutation occurred de novo and was not found in 1,300 exomes of unaffected individuals. </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 NICOLAIDES-BARAITSER SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCA2, ARG1159GLN
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<br />
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SNP: rs281875187,
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ClinVar: RCV000022910, RCV000059676, RCV001533105
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous G-to-A transition at nucleotide 3476 in exon 25 of the SMARCA2 gene, resulting in an arg-to-gln substitution at codon 1159 (R1159Q). This mutation occurred as a de novo event in both individuals and was not identified in 1,300 exomes from unaffected individuals. Van Houdt et al. (2012) identified different mutations at this codon in other patients (600014.0005, 600014.0008). </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 NICOLAIDES-BARAITSER SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCA2, ASP1158VAL
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<br />
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SNP: rs281875240,
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ClinVar: RCV000022911, RCV000059674
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a de novo heterozygous A-to-T transversion at nucleotide 3473 in exon 25 of the SMARCA2 gene, resulting in an asp-to-val substitution at codon 1158 (D1158V). This mutation was not present in 1,300 control exomes. </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>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG1159GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875184,
|
|
|
|
|
|
|
|
ClinVar: RCV000022912, RCV000059675
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a de novo heterozygous C-to-G transversion at nucleotide 3475 in exon 25 of the SMARCA2 gene, resulting in an arg-to-gly substitution at codon 1159 (R1159G). This mutation was not present in 1,300 control exomes. Van Houdt et al. (2012) identified different mutations at this codon in other patients (600014.0003, 600014.0008). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, GLY881VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875185,
|
|
|
|
|
|
|
|
ClinVar: RCV000022913, RCV000059665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous G-to-T transversion at nucleotide 2642 in exon 18 of the SMARCA2 gene, resulting in a gly-to-val substitution at codon 881 (G881V). This mutation was not present in the patient's mother (no sample from the father was available), nor was it seen in 1,300 exomes from unaffected individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG1162HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875186,
|
|
|
|
|
|
gnomAD: rs281875186,
|
|
|
|
|
|
ClinVar: RCV000022914, RCV000059678
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a de novo heterozygous G-to-A transition at nucleotide 3485 in exon 25 of the SMARCA2 gene, resulting in an arg-to-his substitution at codon 1162 (R1162H). This mutation was not seen in 1,300 control exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG1159LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875187,
|
|
|
|
|
|
|
|
ClinVar: RCV000022915, RCV000059677
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous G-to-T transversion at nucleotide 3476 in exon 25 of the SMARCA2 gene, resulting in an arg-to-leu substitution at codon 1159 (R1159L). Neither parent was available for testing. This mutation was not identified in 1,300 control exomes. Van Houdt et al. (2012) identified different mutations at this codon in other patients (600014.0003, 600014.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, PRO883LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875188,
|
|
|
|
|
|
|
|
ClinVar: RCV000022916, RCV000059666, RCV001533103
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous C-to-T transition at nucleotide 2648 in exon 18 of the SMARCA2 gene, resulting in a pro-to-leu substitution at codon 883 (P883L). In one individual the mutation was shown to have occurred de novo; parents of the other 2 individuals were unavailable for testing. This mutation was not seen in 1,300 control exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ALA1201VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875189,
|
|
|
|
|
|
gnomAD: rs281875189,
|
|
|
|
|
|
ClinVar: RCV000022917, RCV000059680, RCV001260811, RCV001261297
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated individuals with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous C-to-T transition at nucleotide 3602 in exon 25 of the SMARCA2 gene, resulting in a ala-to-val substitution at codon 1201 (A1201V). In 2 of the patients the mutation was confirmed to have occurred de novo. The mutation was not seen in 1,300 control exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, HIS939TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875190,
|
|
|
|
|
|
|
|
ClinVar: RCV000022918, RCV000059667
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Van Houdt et al. (2012) identified a heterozygous de novo C-to-T transition at nucleotide 2815 in exon 19 of the SMARCA2 gene, resulting in a his-to-tyr substitution at codon 939 (H939Y). This mutation was not seen in 1,300 control exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, GLY752ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875198,
|
|
|
|
|
|
|
|
ClinVar: RCV000022919, RCV000059656
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In monozygotic twins with Nicolaides-Baraitser syndrome (NCBRS; 601358), originally reported by Sousa et al. (2009), Van Houdt et al. (2012) identified a G-to-C transversion at nucleotide 2255 in exon 15 of the SMARCA2 gene, resulting in a gly-to-ala substitution at codon 752 (G752A). Neither parent was available for testing. This mutation was not seen in 1,300 control exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, 55-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000022920
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an individual with Nicolaides-Baraitser syndrome (NCBRS; 601358), Tsurusaki et al. (2012) detected a 55-kb interstitial deletion of SMARCA2 arising as a de novo occurrence. The deletion resulted in skipping of exons 20 through 27. The patient, subject 19, did not have sparse hair but did have developmental delay, hypotonia, and microcephaly, as well as vision problems, hearing loss, and seizures. He was noted to be hirsute, with thick eyebrows, long eyelashes, and abnormal dentition, and had a coarse facial appearance with flat nasal bridge, broad nose, wide mouth, thick lips, and abnormal ears. Spinal anomalies, delayed bone age, feeding problems, and intestinal anomalies were also present. Although the phenotype of the patient was classified as Coffin-Siris syndrome (135900), the patient lacked absent/hypoplastic fifth phalanx of hands or feet and corresponding nails. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 NICOLAIDES-BARAITSER SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, GLY1132ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907194,
|
|
|
|
|
|
|
|
ClinVar: RCV000024365
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old boy with Nicolaides-Baraitser syndrome (NCBRS; 601358), Wolff et al. (2012) detected a heterozygous de novo G-to-A transition at nucleotide 3395 in the SMARCA2 gene, resulting in a gly-to-asp substitution at codon 1132 (G1132D). The glycine at position 1132 resides in the helicase domain and is conserved among species from human to zebrafish. Birth parameters were at the tenth percentile and height was at the fifth percentile at 9 years of age. Wolff et al. (2012) reported that the child had a borderline IQ of 74 with relatively good verbal skills and no autistic features. Dysmorphologic features typical of Nicolaides-Baraitser syndrome were present. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG505GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1586657848,
|
|
|
|
|
|
|
|
ClinVar: RCV001029747, RCV001266425, RCV001375918, RCV001559851
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old girl (patient 1) with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified a de novo heterozygous c.1514G-A transition (c.1514G-A, NM_001289396) in exon 8 of the SMARCA2 gene, resulting in an arg505-to-gln (R505Q) substitution at a conserved residue between the HSA and helicase ATP-binding domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG525HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1586660381,
|
|
|
|
|
|
|
|
ClinVar: RCV001029748, RCV001375919, RCV002462259, RCV004962995
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 girls (patients 3 and 4) with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified a de novo heterozygous c.1574G-A transition (c.1574G-A, NM_001289396) in exon 9 of the SMARCA2 gene, resulting in an arg525-to-his (R525H) substitution at a conserved residue between the HSA and helicase ATP-binding domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCA2, ARG525CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1586660370,
|
|
|
|
|
|
|
|
ClinVar: RCV001029745, RCV001375920, RCV001683727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 girls (patients 5 and 6) with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified a de novo heterozygous c.1573C-T transition (c.1573C-T, NM_001289396) in exon 9 of the SMARCA2 gene, resulting in an arg525-to-cys (R525C) substitution at a conserved residue between the HSA and helicase ATP-binding domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
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SMARCA2, GLU929VAL
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<br />
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SNP: rs1586692481,
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ClinVar: RCV001027658, RCV001375921
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a 9-year-old boy (patient 9) with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified a de novo heterozygous c.2786A-T transversion (c.2786A-T, NM_001289396) in exon 19 of the SMARCA2 gene, resulting in a glu929-to-val (E929V) substitution at a conserved residue in the linker region between the DExx helicase ATP-binding and helicase C-terminal domains. The mutation, which was found by targeted sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </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>.0019 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SMARCA2, ARG937LEU
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<br />
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SNP: rs1586692551,
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ClinVar: RCV001027661, RCV001375922
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 2 boys (patients 12 and 13) with blepharophimosis-impaired intellectual development syndrome (BIS; 619293), Cappuccio et al. (2020) identified a de novo heterozygous c.2810G-T transversion (c.2810G-T, NM_001289396) in exon 19 of the SMARCA2 gene, resulting in an arg937-to-leu (R937L) substitution at a conserved residue in the linker region between the DExx helicase ATP-binding and helicase C-terminal domains. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Cappuccio, G., Sayou, C., Le Tanno, P., Tisserant, E., Bruel, A.-L., El Kennani, S., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., and 36 others.
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<strong>De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.</strong>
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Genet. Med. 22: 1838-185, 2020.
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[PubMed: 32694869]
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[Full Text: https://doi.org/10.1038/s41436-020-0898-y]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de la Serna, I. L., Carlson, K. A., Imbalzano, A. N.
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<strong>Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation.</strong>
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Nature Genet. 27: 187-190, 2001.
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[PubMed: 11175787]
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[Full Text: https://doi.org/10.1038/84826]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hakimi, M.-A., Bochar, D. A., Schmiesing, J. A., Dong, Y., Barak, O. G., Speicher, D. W., Yokomori, K., Shiekhattar, R.
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<strong>A chromatin remodelling complex that loads cohesin onto human chromosomes.</strong>
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Nature 418: 994-998, 2002.
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[PubMed: 12198550]
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[Full Text: https://doi.org/10.1038/nature01024]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Harikrishnan, K. N., Chow, M. Z., Baker, E. K., Pal, S., Bassal, S., Brasacchio, D., Wang, L., Craig, J. M., Jones, P. L., Sif, S., El-Osta, A.
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<strong>Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.</strong>
|
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Nature Genet. 37: 254-264, 2005.
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[PubMed: 15696166]
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[Full Text: https://doi.org/10.1038/ng1516]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ion, R., Telvi, L., Chaussain, J.-L., Barbet, J. P., Nunes, M., Safar, A., Rethore, M.-O., Fellous, M., McElreavey, K.
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<strong>Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.</strong>
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Hum. Genet. 102: 151-156, 1998.
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[PubMed: 9521582]
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[Full Text: https://doi.org/10.1007/s004390050669]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kadam, S., Emerson, B. M.
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<strong>Transcriptional specificity of human SWI/SNF BRG1 and BRM chromatin remodeling complexes.</strong>
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Molec. Cell 11: 377-389, 2003.
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[PubMed: 12620226]
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[Full Text: https://doi.org/10.1016/s1097-2765(03)00034-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., Ozaki, N., Ujike, H., and 11 others.
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|
<strong>Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.</strong>
|
|
Hum. Molec. Genet. 18: 2483-2494, 2009.
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[PubMed: 19363039]
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[Full Text: https://doi.org/10.1093/hmg/ddp166]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron-Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L., Pupko, T., Gorwood, P., Simonneau, M., Moalic, J.-M.
|
|
<strong>SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.</strong>
|
|
Hum. Molec. Genet. 19: 2841-2857, 2010.
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[PubMed: 20457675]
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[Full Text: https://doi.org/10.1093/hmg/ddq184]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Muchardt, C., Reyes, J. C., Bourachot, B., Leguoy, E., Yaniv, M.
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|
<strong>The hbrm and BRG-1 proteins, components of the human SNF/SWI complex, are phosphorylated and excluded from the condensed chromosomes during mitosis.</strong>
|
|
EMBO J. 15: 3394-3402, 1996.
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[PubMed: 8670841]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Muchardt, C., Yaniv, M., Mattei, M.-G.
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<strong>Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization.</strong>
|
|
Mammalian Genome 5: 241-243, 1994.
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[PubMed: 8012116]
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[Full Text: https://doi.org/10.1007/BF00360554]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Muchardt, C., Yaniv, M.
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<strong>A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor.</strong>
|
|
EMBO J. 12: 4279-4290, 1993.
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[PubMed: 8223438]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1993.tb06112.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pilz, A., Woodward, K., Povey, S., Abbott, C.
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<strong>Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse.</strong>
|
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Genomics 25: 139-149, 1995.
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[PubMed: 7774911]
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[Full Text: https://doi.org/10.1016/0888-7543(95)80119-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sousa, S. B., Abdul-Rahman, O. A., Bottani, A., Cormier-Daire, V., Fryer, A., Gillessen-Kaesbach, G., Horn, D., Josifova, D., Kuechler, A., Lees, M., MacDermot, K., Magee, A., and 9 others.
|
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<strong>Nicolaides-Baraitser syndrome: delineation of the phenotype.</strong>
|
|
Am. J. Med. Genet. 149A: 1628-1640, 2009.
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[PubMed: 19606471]
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[Full Text: https://doi.org/10.1002/ajmg.a.32956]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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[PubMed: 22426308]
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[Full Text: https://doi.org/10.1038/ng.2219]
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<li>
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<p class="mim-text-font">
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Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M.-J. H., Bottani, A., Castori, M., Cormier-Daire, V., and 37 others.
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<strong>Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.</strong>
|
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Nature Genet. 44: 445-449, 2012.
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[PubMed: 22366787]
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[Full Text: https://doi.org/10.1038/ng.1105]
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Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C.
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<strong>In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome.</strong>
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Molec. Syndromol. 2: 237-244, 2012.
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[PubMed: 22822383]
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[Full Text: https://doi.org/10.1159/000337323]
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 04/26/2021<br>George E. Tiller - updated : 8/27/2013<br>Ada Hamosh - updated : 6/5/2012<br>Ada Hamosh - updated : 4/30/2012<br>George E. Tiller - updated : 3/30/2010<br>Patricia A. Hartz - updated : 3/25/2005<br>Stylianos E. Antonarakis - updated : 4/18/2003<br>Ada Hamosh - updated : 9/17/2002<br>Victor A. McKusick - updated : 1/26/2001<br>Victor A. McKusick - updated : 4/1/1998<br>Perseveranda M. Cagas - updated : 4/9/1997
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<span class="mim-text-font">
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Victor A. McKusick : 7/1/1994
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carol : 05/04/2021<br>carol : 05/03/2021<br>alopez : 04/30/2021<br>ckniffin : 04/26/2021<br>carol : 11/06/2013<br>carol : 8/27/2013<br>tpirozzi : 8/27/2013<br>terry : 10/5/2012<br>alopez : 6/8/2012<br>terry : 6/5/2012<br>alopez : 5/3/2012<br>terry : 4/30/2012<br>carol : 4/5/2010<br>wwang : 4/2/2010<br>terry : 3/30/2010<br>mgross : 8/4/2005<br>mgross : 3/25/2005<br>mgross : 3/25/2005<br>mgross : 5/6/2004<br>mgross : 4/18/2003<br>mgross : 4/18/2003<br>alopez : 9/17/2002<br>terry : 12/7/2001<br>alopez : 1/29/2001<br>terry : 1/26/2001<br>alopez : 11/4/1998<br>carol : 8/19/1998<br>alopez : 4/1/1998<br>alopez : 4/1/1998<br>terry : 3/23/1998<br>terry : 3/23/1998<br>mark : 4/9/1997<br>mark : 4/9/1997<br>mark : 2/12/1997<br>joanna : 12/19/1996<br>terry : 2/7/1995<br>mimadm : 7/30/1994<br>jason : 7/29/1994<br>jason : 7/13/1994
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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