3852 lines
314 KiB
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3852 lines
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Entry
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- *608148 - SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608148</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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<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="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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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 role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608148">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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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=ENSG00000119042;t=ENST00000417098" 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=23314" 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=608148" 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 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=ENSG00000119042;t=ENST00000417098" 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_001172509,NM_001172517,NM_015265,NR_134967,XM_005246396,XM_047443775" 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_001172509" 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=608148" 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=12178&isoform_id=12178_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/SATB2" 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/10188059,10437582,13634020,38016202,62088332,66990047,71043454,73695230,73695396,119590586,119590587,158254772,193786488,289547596,289547625,530370023,929654234,2217326524,2462571317,2462571319,2462571321,2462571323,2462737284" 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/Q9UPW6" 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=23314" 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=ENSG00000119042;t=ENST00000417098" 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=SATB2" 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=SATB2" 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+23314" 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/SATB2" 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:23314" 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/23314" 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=chr2&hgg_gene=ENST00000417098.6&hgg_start=199269500&hgg_end=199471266&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:21637" 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:21637" 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/satb2" 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=608148[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=608148[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/SATB2/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/ENSG00000119042" 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=SATB2" 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=SATB2" 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=SATB2" 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=SATB2&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/PA128394624" 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:21637" 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/FBgn0020307.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:2679336" 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/SATB2#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:2679336" 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/23314/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=23314" 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=WBGene00022861;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-070912-212" 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://reactome.org/content/query?q=SATB2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608148
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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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SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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KIAA1034
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SATB2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SATB2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/898?start=-3&limit=10&highlight=898">2q33.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:199269500-199471266&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'})">2:199,269,500-199,471,266</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/898?start=-3&limit=10&highlight=898">
|
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2q33.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Glass syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/612313"> 612313 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608148" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608148" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<p>The SATB2 gene encodes a nuclear matrix DNA-binding protein that specifically binds to genomic nuclear matrix attachment regions and participates in transcription regulation and chromatin remodeling (summary by <a href="#13" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. <strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong> Hum. Genet. 132: 1383-1393, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23925499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23925499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23925499[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23925499">Leoyklang et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23925499" 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 sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#11" class="mim-tip-reference" title="Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 197-205, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10470851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10470851</a>] [<a href="https://doi.org/10.1093/dnares/6.3.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10470851">Kikuno et al. (1999)</a> cloned SATB2, which they designated KIAA1034. The deduced 761-amino acid protein shares 61% identity with SATB1 (<a href="/entry/602075">602075</a>). RT-PCR ELISA detected high expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus. Little to no expression was detected in all other tissues and individual brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10470851" 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="Dobreva, G., Dambacher, J., Grosschedl, R. <strong>SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression.</strong> Genes Dev. 17: 3048-3061, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14701874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14701874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14701874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1153003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14701874">Dobreva et al. (2003)</a> cloned mouse Satb2. The deduced 733-amino acid protein contains 2 central nuclear matrix attachment region (MAR) domains and a C-terminal homeobox domain. Unlike Satb1, Satb2 contains 2 consensus SUMO acceptor sites. Northern blot analysis detected Satb2 expression predominantly in brain and kidney, although transcripts of different sizes were detected at lower abundance in thymus and testis. Expression was also detected in several pre-B cell lines. Fluorescence-tagged Satb2 localized to the nuclear matrix of transfected human embryonic kidney cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14701874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the developing embryonic mouse, <a href="#16" class="mim-tip-reference" title="Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A., FitzPatrick, D. R. <strong>Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.</strong> Hum. Molec. Genet. 23: 2569-2579, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24363063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24363063</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24363063[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24363063">Rainger et al. (2014)</a> found expression of Satb2 in craniofacial tissues, including the palatal shelves, tongue, and mandible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24363063" 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="#13" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. <strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong> Hum. Genet. 132: 1383-1393, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23925499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23925499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23925499[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23925499">Leoyklang et al. (2013)</a> stated that the SATB2 gene contains 11 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23925499" 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="#6" class="mim-tip-reference" title="Dobreva, G., Dambacher, J., Grosschedl, R. <strong>SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression.</strong> Genes Dev. 17: 3048-3061, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14701874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14701874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14701874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1153003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14701874">Dobreva et al. (2003)</a> presented evidence that mouse Satb2 bound to the MAR of the immunoglobulin mu locus (<a href="/entry/147020">147020</a>) in pre-B cells and enhanced gene expression. Satb2 could be modified by the SUMO E3 ligase, Pias1 (<a href="/entry/603566">603566</a>). Mutations of the Satb2 SUMO conjugation sites enhanced its activation potential and its association with endogenous MARs in vivo, whereas N-terminal fusions with SUMO1 (<a href="/entry/601912">601912</a>) or SUMO3 (<a href="/entry/602231">602231</a>) decreased Satb2-mediated gene activation. Sumoylation also altered the targeting of Satb2 to the nuclear periphery, suggesting that this reversible modification may modulate the subnuclear DNA localization of SATB2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14701874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using chromatin immunoprecipitation (ChIP) analysis with primary mouse osteoblasts and electrophoretic mobility shift analysis (EMSA), <a href="#5" class="mim-tip-reference" title="Dobreva, G., Chahrour, M., Dautzenberg, M., Chirivella, L., Kanzler, B., Farinas, I., Karsenty, G., Grosschedl, R. <strong>SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.</strong> Cell 125: 971-986, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751105</a>] [<a href="https://doi.org/10.1016/j.cell.2006.05.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16751105">Dobreva et al. (2006)</a> found that mouse Satb2 bound to the EII enhancer of Hoxa2 (<a href="/entry/604685">604685</a>), an inhibitor of bone formation and regulator of branchial arch patterning. Satb2 repressed activity of the Hoxa2 EII enhancer in transfected osteoblasts. ChIP analysis and EMSA showed that Satb2 bound directly to the promoter of Bsp (IBSP; <a href="/entry/147563">147563</a>) and indirectly to the promoter of Ocn (BGLAP; <a href="/entry/112260">112260</a>), both of which are involved osteoblast differentiation. Expression of Satb2 in mouse myoblasts induced expression of endogenous Bsp directly and enhanced Atf4 (<a href="/entry/604064">604064</a>)- and Runx2 (<a href="/entry/600211">600211</a>)-induced expression of endogenous Ocn. Further analyses showed that Satb2 physically interacted with both Atf4 and Runx2, resulting in enhanced DNA binding and transactivation by these transcription factors. Satb2/Atf4 and Satb2/Runx2 double-heterozygous mutant mice displayed a severe defect in bone development that was not observed in single-heterozygous mutant mice, demonstrating that Satb2 interacted genetically with both Atf4 and Runx2 <a href="#5" class="mim-tip-reference" title="Dobreva, G., Chahrour, M., Dautzenberg, M., Chirivella, L., Kanzler, B., Farinas, I., Karsenty, G., Grosschedl, R. <strong>SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.</strong> Cell 125: 971-986, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751105</a>] [<a href="https://doi.org/10.1016/j.cell.2006.05.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16751105">Dobreva et al. (2006)</a> concluded that SATB2 represents a node of a transcriptional network underlying skeletal development in which SATB2 acts as both a transcriptional regulator by binding DNA directly and as a scaffolding protein that recruits other DNA-binding proteins to specific subnuclear sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16751105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunofluorescence studies, <a href="#13" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. <strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong> Hum. Genet. 132: 1383-1393, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23925499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23925499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23925499[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23925499">Leoyklang et al. (2013)</a> showed that both wildtype and mutant R239X (<a href="#0001">608148.0001</a>) SATB2 proteins were expressed and localized to the nucleus in HEK293 cells. The mutant protein retained the ability to dimerize with the wildtype protein. Luciferase expression studies demonstrated that wildtype SATB2 inhibited transcriptional activity, whereas mutant SATB2 was similar to empty vector. Overall, the findings suggested that mutant SATB2 has a dominant-negative effect on the wildtype protein. Since patients with mutation in the SATB2 gene have overlapping features with patients with MRXS14 (<a href="/entry/300676">300676</a>) carrying mutations in the UPF3B gene (<a href="/entry/300298">300298</a>), <a href="#13" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. <strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong> Hum. Genet. 132: 1383-1393, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23925499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23925499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23925499[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23925499">Leoyklang et al. (2013)</a> explored whether the 2 genes could function in the same signaling pathway. Cells derived from the patient with mutant SATB2 as well as siRNA knockdown of SATB2 were associated with significantly decreased expression of UPF3B. Chromatin immunoprecipitation studies demonstrated that SATB2 binds to the UPF3B promoter, and a luciferase reporter assay confirmed that SATB2 expression significantly activates gene transcription using the UPF3B promoter. The findings associated SATB2 to the nonsense-mediated mRNA decay pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23925499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of a YAC/BAC contig, <a href="#15" class="mim-tip-reference" title="Machado, R. D., Pauciulo, M. W., Fretwell, N., Veal, C., Thomson, J. R., Guell, C. V., Aldred, M., Brannon, C. A., the International PPH Consortium, Trembath, R. C., Nichols, W. C. <strong>A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension.</strong> Genomics 68: 220-228, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10964520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10964520</a>] [<a href="https://doi.org/10.1006/geno.2000.6291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10964520">Machado et al. (2000)</a> mapped the SATB2 gene to chromosome 2q33. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10964520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 1 of 59 unrelated Thai patients with craniofacial dysmorphism with or without mental retardation, <a href="#12" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Siriwan, P., Desudchit, T., Chaowanapanja, P., Gahl, W. A., Shotelersuk, V. <strong>Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.</strong> Hum. Mutat. 28: 732-738, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17377962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17377962</a>] [<a href="https://doi.org/10.1002/humu.20515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17377962">Leoyklang et al. (2007)</a> identified a heterozygous de novo mutation in the SATB2 gene (R239X; <a href="#0001">608148.0001</a>). The patient had isolated cleft palate, generalized osteoporosis, and profound mental retardation, consistent with Glass syndrome (<a href="/entry/612313">612313</a>). The findings suggested a role for the SATB2 gene in malformation syndromes involving craniofacial patterning and brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17377962" 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="#7" class="mim-tip-reference" title="Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D. <strong>Further delineation of the SATB2 phenotype.</strong> Europ. J. Hum. Genet. 22: 1034-1039, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24301056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24301056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24301056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2013.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24301056">Docker et al. (2014)</a> identified a de novo heterozygous R239X mutation (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853127;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs137853127</a>) in a 3-year-old girl with cleft palate, severely delayed speech, hypotonia, and mental retardation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. She also had severe sleeping disturbances, restlessness/hyperactivity, and recurrent temper tantrums. Mutant mRNA was present in the patient's cells, suggesting that it does not undergo nonsense-mediated mRNA decay. <a href="#7" class="mim-tip-reference" title="Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D. <strong>Further delineation of the SATB2 phenotype.</strong> Europ. J. Hum. Genet. 22: 1034-1039, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24301056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24301056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24301056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2013.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24301056">Docker et al. (2014)</a> concluded that the SATB2 gene is essential for normal craniofacial patterning and cognitive development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24301056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 20-year-old man with Glass syndrome, <a href="#14" class="mim-tip-reference" title="Lieden, A., Kvarnung, M., Nilssson, D., Sahlin, E., Lundberg, E. S. <strong>Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.</strong> Am. J. Med. Genet. 164A: 3083-3087, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25251319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25251319</a>] [<a href="https://doi.org/10.1002/ajmg.a.36769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25251319">Lieden et al. (2014)</a> identified a de novo heterozygous intragenic duplication of the SATB2 gene (<a href="#0002">608148.0002</a>). The duplication was found by array CGH analysis. Functional studies and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25251319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old girl with Glass syndrome, <a href="#10" class="mim-tip-reference" title="Kaiser, A.-S., Maas, B., Wolff, A., Sutter, C., Janssen, J. W. G., Hinderhofer, K., Moog, U. <strong>Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.</strong> Europ. J. Hum. Genet. 23: 704-707, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25118029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25118029</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25118029[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25118029">Kaiser et al. (2015)</a> identified a de novo heterozygous intragenic duplication of the SATB2 gene (<a href="#0003">608148.0003</a>), predicted to result in haploinsufficiency. The patient was born of unrelated parents and conceived via intracytoplasmic sperm injection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25118029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Japanese children with Glass syndrome, <a href="#18" class="mim-tip-reference" title="Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S., Kosaki, K. <strong>SATB2-associated syndrome in patients from Japan: linguistic profiles.</strong> Am. J. Med. Genet. 179A: 896-899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30848049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30848049</a>] [<a href="https://doi.org/10.1002/ajmg.a.61114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30848049">Yamada et al. (2019)</a> identified heterozygous mutations in the SATB2 gene (<a href="#0007">608148.0007</a> and <a href="#0008">608148.0008</a>). The mutations were identified by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30848049" 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="#2" class="mim-tip-reference" title="Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R. <strong>A locus for isolated cleft palate, located on human chromosome 2q32.</strong> Am. J. Hum. Genet. 65: 387-396, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417281</a>] [<a href="https://doi.org/10.1086/302498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10417281">Brewer et al. (1999)</a> reported 2 unrelated girls with cleft palate, facial dysmorphism, and mildly delayed development and learning difficulties associated with balanced, de novo cytogenetic rearrangements involving the same region of 2q. Molecular cytogenetic analyses localized both translocation breakpoints between markers D2S311 and D2S116 on chromosome 2q32. Facial features included prominent nasal bridge with underhanging columella, small mouth with distinctive upper lip, and long, slender fingers. <a href="#8" class="mim-tip-reference" title="FitzPatrick, D. R., Carr, I. M., McLaren, L., Leek, J. P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A. F., Fantes, J. A., Bonthron, D. T. <strong>Identification of SATB2 as the cleft palate gene on 2q32-q33.</strong> Hum. Molec. Genet. 12: 2491-2501, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915443</a>] [<a href="https://doi.org/10.1093/hmg/ddg248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915443">FitzPatrick et al. (2003)</a> determined that 1 of the breakpoints in the 2 girls reported by <a href="#2" class="mim-tip-reference" title="Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R. <strong>A locus for isolated cleft palate, located on human chromosome 2q32.</strong> Am. J. Hum. Genet. 65: 387-396, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417281</a>] [<a href="https://doi.org/10.1086/302498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10417281">Brewer et al. (1999)</a> localized to intron 2 of SATB2, and the other breakpoint was located 130 kb 3-prime to the SATB2 polyadenylation signal, within a conserved region of noncoding DNA. Whole-mount in situ hybridization to mouse embryos showed site- and stage-specific expression of SATB2 in the developing palate. Despite the strong evidence supporting an important role for SATB2 in palatal development, mutation analysis of an additional 70 unrelated patients with isolated cleft palate did not reveal any coding region variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12915443+10417281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Rosenfeld, J. A., Ballif, B. C., Lucas, A., Spence, E. J., Powell, C., Aylsworth, A. S., Torchia, B. A., Shaffer, L. G. <strong>Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.</strong> PLoS One 4: e6568, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668335</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19668335[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0006568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19668335">Rosenfeld et al. (2009)</a> reported 3 unrelated patients with small heterozygous deletions of chromosome 2q33.1, ranging from 173.1 to 185.2 kb, that affected only the SATB2 gene. Parental samples from the mother were available for only 2 patients, and neither mother carried the deletion; parental samples were not available for the third patient. All patients had severe developmental delay, mental retardation, and tooth anomalies, but other features varied. Dentofacial anomalies included delayed primary dentition and micrognathia in 1 patient; cleft palate, crowded teeth, and small mandible in the second; and fused mandibular central incisors without cleft palate in the third. Two patients had behavioral abnormalities and mild dysmorphic features. <a href="#17" class="mim-tip-reference" title="Rosenfeld, J. A., Ballif, B. C., Lucas, A., Spence, E. J., Powell, C., Aylsworth, A. S., Torchia, B. A., Shaffer, L. G. <strong>Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.</strong> PLoS One 4: e6568, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668335</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19668335[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0006568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19668335">Rosenfeld et al. (2009)</a> concluded that haploinsufficiency for SATB2 is responsible for some of the clinical features associated with the 2q32-q33 deletion syndrome (<a href="/entry/612313">612313</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using comparative genomics, <a href="#16" class="mim-tip-reference" title="Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A., FitzPatrick, D. R. <strong>Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.</strong> Hum. Molec. Genet. 23: 2569-2579, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24363063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24363063</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24363063[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24363063">Rainger et al. (2014)</a> identified 3 different functional enhancing cis-regulatory elements (CREs) in the gene desert between the PLCL1 (<a href="/entry/600597">600597</a>) and SATB2 genes, 3-prime to SATB2. Sites within these CREs were shown to bind the SOX9 (<a href="/entry/608160">608160</a>) transcription factor in cells derived from the mouse embryonic pharyngeal arch. Studies in zebrafish showed that CRE2 could drive SATB2-like expression in the embryonic craniofacial region, and this expression could be eliminated by mutating the SOX9-binding site. These findings suggested that the translocation breakpoints identified in patients with craniofacial defects disrupt the long-range cis regulation of SATB2 by SOX9, resulting in functional haploinsufficiency of SATB2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24363063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a> reported 19 different SATB2 mutations, of which 11 were loss-of-function and 8 missense (e.g., <a href="#0004">608148.0004</a>-<a href="#0006">608148.0006</a>). SATB2 nuclear mobility was mutation-dependent. The clinical features in individuals with missense variants were indistinguishable from those with loss-of-function variants. <a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a> found that when mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28151491" 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 identification of SATB2 as a candidate gene responsible for the craniofacial dysmorphologies associated with deletions and translocations at 2q32-q33, 1 of only 3 regions of the genome for which haploinsufficiency has been significantly associated with isolated cleft palate, led <a href="#3" class="mim-tip-reference" title="Britanova, O., Depew, M. J., Schwark, M., Thomas, B. L., Miletich, I., Sharpe, P., Tarabykin, V. <strong>Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.</strong> Am. J. Hum. Genet. 79: 668-678, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960803[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960803">Britanova et al. (2006)</a> to investigate the in vivo functions of murine Satb2. They found that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in approximately 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. Full functional loss of Satb2 resulted in amplification of these defects and led to increased apoptosis in the craniofacial mesenchyme where Satb2 is usually expressed and of changes in the pattern of expression of 3 genes implicated in the regulation of craniofacial development in humans and mice: Pax9 (<a href="/entry/167416">167416</a>), Alx4 (<a href="/entry/605420">605420</a>), and Msx1 (<a href="/entry/142983">142983</a>). The Satb2 dosage sensitivity in craniofacial development was conspicuous; along with its control of cell survival, pattern of expression, and reversible functional modification by sumoylation, the dosage sensitivity suggested that Satb2/SATB2 function in craniofacial development may prove to be more profound than had been previously thought. Because jaw development is Satb2 dosage-sensitive, the regulators of Satb2 expression and posttranslational modification become of critical importance both ontogenetically and evolutionarily, especially since such regulators plausibly play undetected roles in jaw and palate development and in the etiology of craniofacial malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960803" 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="#5" class="mim-tip-reference" title="Dobreva, G., Chahrour, M., Dautzenberg, M., Chirivella, L., Kanzler, B., Farinas, I., Karsenty, G., Grosschedl, R. <strong>SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.</strong> Cell 125: 971-986, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16751105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16751105</a>] [<a href="https://doi.org/10.1016/j.cell.2006.05.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16751105">Dobreva et al. (2006)</a> found that Satb2 +/- mice were phenotypically normal and fertile. Satb2 -/- mice were obtained at the expected mendelian frequency, but they died immediately after birth. Satb2 -/- embryos showed multiple craniofacial defects, including truncation of the mandible, shortening of the nasal and maxillary bones, malformations of the hyoid bone, and cleft palate. At later stages, Satb2 -/- embryos exhibited a delay in bone formation. Satb2 -/- osteoblasts showed a marked decrease in terminal differentiation, as determined by an absence of Bsp and Ocn expression. Quantitative RT-PCR showed decreased expression of Lhx7 (LHX8; <a href="/entry/604425">604425</a>) and increased expression of several Hox genes, including Hoxa2, in cells from the head and branchial arch regions of Satb2 -/- mice. In situ hybridization revealed altered expression of Lhx7, Msx1, and Hoxa2 in Satb2 -/- mice. Microarray analysis showed deregulation of multiple genes, including Lhx7 and Hoxa2, in Satb2 -/- calvarial osteoblasts, and RT-PCR and in situ hybridization confirmed upregulation of Hoxa2 in Satb2 -/- calvarial osteoblasts. Loss of Hoxa2 rescued the calvarial bone formation defect in Satb2 -/- mice, suggesting that repression of HOXA2 by SATB2 is important for normal osteoblast differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16751105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608148[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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SATB2, ARG239TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853127;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs137853127</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853127;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=rs137853127" 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=rs137853127" 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=RCV000002627 OR RCV000256175 OR RCV001257620 OR RCV001261363 OR RCV004724726" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002627, RCV000256175, RCV001257620, RCV001261363, RCV004724726" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002627...</a>
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<p>In a Thai man with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), characterized by cleft palate, gum hyperplasia, slight micrognathia, generalized osteoporosis, and mental retardation, <a href="#12" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Siriwan, P., Desudchit, T., Chaowanapanja, P., Gahl, W. A., Shotelersuk, V. <strong>Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.</strong> Hum. Mutat. 28: 732-738, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17377962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17377962</a>] [<a href="https://doi.org/10.1002/humu.20515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17377962">Leoyklang et al. (2007)</a> identified a heterozygous de novo 715C-T transition in exon 6 of the SATB2 gene, resulting in an arg239-to-ter (R239X) substitution. CT scan of the facial bones revealed multiple anomalies, including asymmetric mandibular hypoplasia, wide mandibular angles, anterior overbite of the upper teeth with marked anterior-pointing incisors, midline cleft palate, abnormal sinuses, short zygomatic arches, and flattened mandibular condylar heads. The patient also had profound mental retardation, seizures, and a jovial personality. Expression studies showed that the truncated protein was expressed. The mutation was not identified in 210 control alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17377962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunofluorescence studies, <a href="#13" class="mim-tip-reference" title="Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. <strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong> Hum. Genet. 132: 1383-1393, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23925499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23925499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23925499[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23925499">Leoyklang et al. (2013)</a> showed that the mutant R239X protein localized to the nucleus in HEK293 cells and was able to dimerize with the wildtype protein. Luciferase expression studies demonstrated that wildtype SATB2 inhibited transcriptional activity, whereas mutant SATB2 was similar to empty vector. Overall, the findings suggested that mutant SATB2 has a dominant-negative effect on the wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23925499" 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="#7" class="mim-tip-reference" title="Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D. <strong>Further delineation of the SATB2 phenotype.</strong> Europ. J. Hum. Genet. 22: 1034-1039, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24301056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24301056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24301056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2013.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24301056">Docker et al. (2014)</a> identified a de novo heterozygous R239X mutation (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853127;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs137853127</a>) in a 3-year-old girl with cleft palate, severely delayed speech, hypotonia, and mental retardation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. She also had severe sleeping disturbances, restlessness/hyperactivity, and recurrent temper tantrums. Mutant mRNA was present in the patient's cells, suggesting that it does not undergo nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24301056" 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=RCV000201263" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201263" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201263</a>
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<p>In a 20-year-old man with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), <a href="#14" class="mim-tip-reference" title="Lieden, A., Kvarnung, M., Nilssson, D., Sahlin, E., Lundberg, E. S. <strong>Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.</strong> Am. J. Med. Genet. 164A: 3083-3087, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25251319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25251319</a>] [<a href="https://doi.org/10.1002/ajmg.a.36769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25251319">Lieden et al. (2014)</a> identified a de novo heterozygous intragenic duplication (chr2:200,233,354-200,255,458, GRCH37) of the SATB2 gene; the breakpoints were intronic and resulted in the duplication of exons 5, 6, and 7. The duplication was found by array CGH analysis. Functional studies and studies of patient cells were not performed. The phenotype in this patient was similar to that observed in other patients with this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25251319" 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">rs2105928778 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2105928778;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=rs2105928778" 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=rs2105928778" 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=RCV000202349" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202349" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202349</a>
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<p>In a 10-year-old German girl with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), <a href="#10" class="mim-tip-reference" title="Kaiser, A.-S., Maas, B., Wolff, A., Sutter, C., Janssen, J. W. G., Hinderhofer, K., Moog, U. <strong>Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.</strong> Europ. J. Hum. Genet. 23: 704-707, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25118029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25118029</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25118029[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25118029">Kaiser et al. (2015)</a> identified a de novo heterozygous 54-kb duplication (c.169+9407_347-10003dup, NM_001172509.1) of exon 3 in the SATB2 gene. Sanger sequence analysis and studies of patient transcripts confirmed that the duplication was in tandem and resulted in an in-frame duplication of exon 3. The patient was born of unrelated parents and conceived via intracytoplasmic sperm injection. Further molecular studies were not performed; the authors postulated that the mutation resulted in haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25118029" 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=RCV000430827 OR RCV000623230 OR RCV000656508 OR RCV002470857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000430827, RCV000623230, RCV000656508, RCV002470857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000430827...</a>
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<p>In a female (patient 271044) with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>) characterized by severe intellectual disability and a cleft palate due to Pierre-Robin sequence, <a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a> identified a de novo heterozygous C-to-T transition at nucleotide c.1165 (c.1165C-T, ENST00000417098) of the SATB2 gene, resulting in an arginine-to-cysteine substitution at codon 386 (R389C), in the CUT1 domain. <a href="#9" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 06/14/2018."None>Hamosh (2018)</a> noted that the c.1165C-T variant was not present in the ExAC or gnomAD databases (June 14, 2018). Transient transfection of mutant constructs revealed that SATB2 nuclear mobility was increased by this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28151491" 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 GLASS 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">rs1553544187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553544187;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=rs1553544187" 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=rs1553544187" 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=RCV000656510" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656510" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656510</a>
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<p>In a male (patient 262240) with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>) with severe intellectual disability but absent cleft palate, <a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a> identified a de novo heterozygous G-to-A transition at nucleotide c.1543 (c.1543G-A, ENST00000417098) of the SATB2 gene resulting in a glycine-to-serine substitution at codon 515 (G515S), between the CUT2 and HOX domains. <a href="#9" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 06/14/2018."None>Hamosh (2018)</a> noted that the c.1543G-A variant was not present in the ExAC or gnomAD databases (June 14, 2018). Transient transfection of mutant constructs revealed that this variant resulted in decreased nuclear mobility of SATB2. This patient was reported in the <a href="#4" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study (2015)</a> with clinical features of seizures; delayed speech and language development; frontal bossing; deeply set eyes; abnormal hair pattern; strabismus; and smooth philtrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28151491+25533962" 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 GLASS SYNDROME</strong>
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SATB2, GLU566LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1064795530 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064795530;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=rs1064795530" 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=rs1064795530" 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=RCV000482629 OR RCV000656509" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000482629, RCV000656509" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000482629...</a>
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<p>In a female (patient 264840) with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), <a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a> identified a de novo heterozygous G-to-A transition at nucleotide c.1696 (c.1696G-A, ENST00000417098) of the SATB2 gene resulting in a glutamic acid-to-lysine substitution at codon 566 (E566K). <a href="#9" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 06/14/2018."None>Hamosh (2018)</a> noted that the c.1696G-A variant was not present in the ExAC or gnomAD databases (June 14, 2018). The mutation occurred between the CUT2 and HOX domains; transient transfection of mutant constructs revealed that this variant resulted in reduced SATB2 nuclear mobility. This variant also appeared as Gln566Lys in the text and figures of the report by <a href="#1" class="mim-tip-reference" title="Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others. <strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong> Genet. Med. 19: 900-908, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28151491">Bengani et al. (2017)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28151491" 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 GLASS SYNDROME</strong>
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SATB2, ARG239TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002627 OR RCV000256175 OR RCV001257620 OR RCV001261363 OR RCV004724726" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002627, RCV000256175, RCV001257620, RCV001261363, RCV004724726" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002627...</a>
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<p>In a 7-year-old Japanese girl (patient 1) with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), <a href="#18" class="mim-tip-reference" title="Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S., Kosaki, K. <strong>SATB2-associated syndrome in patients from Japan: linguistic profiles.</strong> Am. J. Med. Genet. 179A: 896-899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30848049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30848049</a>] [<a href="https://doi.org/10.1002/ajmg.a.61114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30848049">Yamada et al. (2019)</a> identified a de novo heterozygous c.715C-T transition (c.715C-T, NM_001172509.1) in the SAT2B gene, resulting in an arg239-to-ter (R239X) substitution. The mutation was identified by trio whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30848049" 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 GLASS SYNDROME</strong>
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SATB2, 1-BP DEL, 2104G
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003322652" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003322652" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003322652</a>
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<p>In a 9-year-old Japanese girl (patient 2) with Glass syndrome (GLASS; <a href="/entry/612313">612313</a>), <a href="#18" class="mim-tip-reference" title="Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S., Kosaki, K. <strong>SATB2-associated syndrome in patients from Japan: linguistic profiles.</strong> Am. J. Med. Genet. 179A: 896-899, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30848049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30848049</a>] [<a href="https://doi.org/10.1002/ajmg.a.61114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30848049">Yamada et al. (2019)</a> identified heterozygosity for a 1-bp deletion (c.2104delG, NM_001172509.1) in the SATB2 gene, predicted to result in a frameshift and premature termination (Asp702ThrfsTer38). The mutation, which was identified by whole-exome sequencing, was not present in her father, but her mother could not be tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30848049" 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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Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others.
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<strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong>
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Genet. Med. 19: 900-908, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28151491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28151491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28151491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28151491" 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/gim.2016.211" target="_blank">Full Text</a>]
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Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R.
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<strong>A locus for isolated cleft palate, located on human chromosome 2q32.</strong>
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Am. J. Hum. Genet. 65: 387-396, 1999.
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[<a href="https://doi.org/10.1086/302498" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/508214" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature14135" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.cell.2006.05.012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2013.280" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg248" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-013-1345-9" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30848049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30848049</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30848049" 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.61114" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 08/18/2023
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Ada Hamosh - updated : 06/15/2018<br>Cassandra L. Kniffin - updated : 11/23/2015<br>Cassandra L. Kniffin - updated : 10/20/2015<br>Cassandra L. Kniffin - updated : 8/11/2014<br>Cassandra L. Kniffin - updated : 1/14/2014<br>Cassandra L. Kniffin - updated : 6/4/2012<br>Matthew B. Gross - updated : 4/14/2010<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Victor A. McKusick - updated : 9/21/2006<br>George E. Tiller - updated : 4/26/2004<br>Patricia A. Hartz - updated : 2/2/2004
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Creation Date:
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Patricia A. Hartz : 10/3/2003
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alopez : 07/02/2024
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carol : 08/18/2023<br>alopez : 06/15/2018<br>alopez : 06/15/2018<br>joanna : 12/01/2015<br>carol : 11/23/2015<br>ckniffin : 11/23/2015<br>carol : 10/23/2015<br>carol : 10/22/2015<br>ckniffin : 10/20/2015<br>mcolton : 8/12/2014<br>carol : 8/11/2014<br>mcolton : 8/11/2014<br>ckniffin : 8/11/2014<br>carol : 1/14/2014<br>carol : 1/14/2014<br>ckniffin : 1/13/2014<br>alopez : 6/18/2012<br>ckniffin : 6/4/2012<br>terry : 4/12/2012<br>wwang : 11/22/2010<br>wwang : 4/28/2010<br>mgross : 4/14/2010<br>wwang : 9/6/2007<br>ckniffin : 8/20/2007<br>alopez : 9/25/2006<br>terry : 9/21/2006<br>alopez : 4/26/2004<br>terry : 3/18/2004<br>mgross : 2/2/2004<br>mgross : 2/2/2004<br>mgross : 10/3/2003
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<strong>*</strong> 608148
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SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2
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<em>Alternative titles; symbols</em>
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KIAA1034
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SATB2</em></strong>
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Cytogenetic location: 2q33.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:199,269,500-199,471,266 </span>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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2q33.1
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Glass syndrome
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612313
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The SATB2 gene encodes a nuclear matrix DNA-binding protein that specifically binds to genomic nuclear matrix attachment regions and participates in transcription regulation and chromatin remodeling (summary by Leoyklang et al., 2013). </p>
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Kikuno et al. (1999) cloned SATB2, which they designated KIAA1034. The deduced 761-amino acid protein shares 61% identity with SATB1 (602075). RT-PCR ELISA detected high expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus. Little to no expression was detected in all other tissues and individual brain regions examined. </p><p>Dobreva et al. (2003) cloned mouse Satb2. The deduced 733-amino acid protein contains 2 central nuclear matrix attachment region (MAR) domains and a C-terminal homeobox domain. Unlike Satb1, Satb2 contains 2 consensus SUMO acceptor sites. Northern blot analysis detected Satb2 expression predominantly in brain and kidney, although transcripts of different sizes were detected at lower abundance in thymus and testis. Expression was also detected in several pre-B cell lines. Fluorescence-tagged Satb2 localized to the nuclear matrix of transfected human embryonic kidney cells. </p><p>In the developing embryonic mouse, Rainger et al. (2014) found expression of Satb2 in craniofacial tissues, including the palatal shelves, tongue, and mandible. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Leoyklang et al. (2013) stated that the SATB2 gene contains 11 exons. </p>
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<strong>Gene Function</strong>
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<p>Dobreva et al. (2003) presented evidence that mouse Satb2 bound to the MAR of the immunoglobulin mu locus (147020) in pre-B cells and enhanced gene expression. Satb2 could be modified by the SUMO E3 ligase, Pias1 (603566). Mutations of the Satb2 SUMO conjugation sites enhanced its activation potential and its association with endogenous MARs in vivo, whereas N-terminal fusions with SUMO1 (601912) or SUMO3 (602231) decreased Satb2-mediated gene activation. Sumoylation also altered the targeting of Satb2 to the nuclear periphery, suggesting that this reversible modification may modulate the subnuclear DNA localization of SATB2. </p><p>Using chromatin immunoprecipitation (ChIP) analysis with primary mouse osteoblasts and electrophoretic mobility shift analysis (EMSA), Dobreva et al. (2006) found that mouse Satb2 bound to the EII enhancer of Hoxa2 (604685), an inhibitor of bone formation and regulator of branchial arch patterning. Satb2 repressed activity of the Hoxa2 EII enhancer in transfected osteoblasts. ChIP analysis and EMSA showed that Satb2 bound directly to the promoter of Bsp (IBSP; 147563) and indirectly to the promoter of Ocn (BGLAP; 112260), both of which are involved osteoblast differentiation. Expression of Satb2 in mouse myoblasts induced expression of endogenous Bsp directly and enhanced Atf4 (604064)- and Runx2 (600211)-induced expression of endogenous Ocn. Further analyses showed that Satb2 physically interacted with both Atf4 and Runx2, resulting in enhanced DNA binding and transactivation by these transcription factors. Satb2/Atf4 and Satb2/Runx2 double-heterozygous mutant mice displayed a severe defect in bone development that was not observed in single-heterozygous mutant mice, demonstrating that Satb2 interacted genetically with both Atf4 and Runx2 Dobreva et al. (2006) concluded that SATB2 represents a node of a transcriptional network underlying skeletal development in which SATB2 acts as both a transcriptional regulator by binding DNA directly and as a scaffolding protein that recruits other DNA-binding proteins to specific subnuclear sites. </p><p>Using immunofluorescence studies, Leoyklang et al. (2013) showed that both wildtype and mutant R239X (608148.0001) SATB2 proteins were expressed and localized to the nucleus in HEK293 cells. The mutant protein retained the ability to dimerize with the wildtype protein. Luciferase expression studies demonstrated that wildtype SATB2 inhibited transcriptional activity, whereas mutant SATB2 was similar to empty vector. Overall, the findings suggested that mutant SATB2 has a dominant-negative effect on the wildtype protein. Since patients with mutation in the SATB2 gene have overlapping features with patients with MRXS14 (300676) carrying mutations in the UPF3B gene (300298), Leoyklang et al. (2013) explored whether the 2 genes could function in the same signaling pathway. Cells derived from the patient with mutant SATB2 as well as siRNA knockdown of SATB2 were associated with significantly decreased expression of UPF3B. Chromatin immunoprecipitation studies demonstrated that SATB2 binds to the UPF3B promoter, and a luciferase reporter assay confirmed that SATB2 expression significantly activates gene transcription using the UPF3B promoter. The findings associated SATB2 to the nonsense-mediated mRNA decay pathway. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By analysis of a YAC/BAC contig, Machado et al. (2000) mapped the SATB2 gene to chromosome 2q33. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 1 of 59 unrelated Thai patients with craniofacial dysmorphism with or without mental retardation, Leoyklang et al. (2007) identified a heterozygous de novo mutation in the SATB2 gene (R239X; 608148.0001). The patient had isolated cleft palate, generalized osteoporosis, and profound mental retardation, consistent with Glass syndrome (612313). The findings suggested a role for the SATB2 gene in malformation syndromes involving craniofacial patterning and brain development. </p><p>Docker et al. (2014) identified a de novo heterozygous R239X mutation (rs137853127) in a 3-year-old girl with cleft palate, severely delayed speech, hypotonia, and mental retardation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. She also had severe sleeping disturbances, restlessness/hyperactivity, and recurrent temper tantrums. Mutant mRNA was present in the patient's cells, suggesting that it does not undergo nonsense-mediated mRNA decay. Docker et al. (2014) concluded that the SATB2 gene is essential for normal craniofacial patterning and cognitive development. </p><p>In a 20-year-old man with Glass syndrome, Lieden et al. (2014) identified a de novo heterozygous intragenic duplication of the SATB2 gene (608148.0002). The duplication was found by array CGH analysis. Functional studies and studies of patient cells were not performed. </p><p>In a 10-year-old girl with Glass syndrome, Kaiser et al. (2015) identified a de novo heterozygous intragenic duplication of the SATB2 gene (608148.0003), predicted to result in haploinsufficiency. The patient was born of unrelated parents and conceived via intracytoplasmic sperm injection. </p><p>In 2 unrelated Japanese children with Glass syndrome, Yamada et al. (2019) identified heterozygous mutations in the SATB2 gene (608148.0007 and 608148.0008). The mutations were identified by whole-exome sequencing. </p>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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<span class="mim-text-font">
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<p>Brewer et al. (1999) reported 2 unrelated girls with cleft palate, facial dysmorphism, and mildly delayed development and learning difficulties associated with balanced, de novo cytogenetic rearrangements involving the same region of 2q. Molecular cytogenetic analyses localized both translocation breakpoints between markers D2S311 and D2S116 on chromosome 2q32. Facial features included prominent nasal bridge with underhanging columella, small mouth with distinctive upper lip, and long, slender fingers. FitzPatrick et al. (2003) determined that 1 of the breakpoints in the 2 girls reported by Brewer et al. (1999) localized to intron 2 of SATB2, and the other breakpoint was located 130 kb 3-prime to the SATB2 polyadenylation signal, within a conserved region of noncoding DNA. Whole-mount in situ hybridization to mouse embryos showed site- and stage-specific expression of SATB2 in the developing palate. Despite the strong evidence supporting an important role for SATB2 in palatal development, mutation analysis of an additional 70 unrelated patients with isolated cleft palate did not reveal any coding region variants. </p><p>Rosenfeld et al. (2009) reported 3 unrelated patients with small heterozygous deletions of chromosome 2q33.1, ranging from 173.1 to 185.2 kb, that affected only the SATB2 gene. Parental samples from the mother were available for only 2 patients, and neither mother carried the deletion; parental samples were not available for the third patient. All patients had severe developmental delay, mental retardation, and tooth anomalies, but other features varied. Dentofacial anomalies included delayed primary dentition and micrognathia in 1 patient; cleft palate, crowded teeth, and small mandible in the second; and fused mandibular central incisors without cleft palate in the third. Two patients had behavioral abnormalities and mild dysmorphic features. Rosenfeld et al. (2009) concluded that haploinsufficiency for SATB2 is responsible for some of the clinical features associated with the 2q32-q33 deletion syndrome (612313). </p><p>Using comparative genomics, Rainger et al. (2014) identified 3 different functional enhancing cis-regulatory elements (CREs) in the gene desert between the PLCL1 (600597) and SATB2 genes, 3-prime to SATB2. Sites within these CREs were shown to bind the SOX9 (608160) transcription factor in cells derived from the mouse embryonic pharyngeal arch. Studies in zebrafish showed that CRE2 could drive SATB2-like expression in the embryonic craniofacial region, and this expression could be eliminated by mutating the SOX9-binding site. These findings suggested that the translocation breakpoints identified in patients with craniofacial defects disrupt the long-range cis regulation of SATB2 by SOX9, resulting in functional haploinsufficiency of SATB2. </p><p>Bengani et al. (2017) reported 19 different SATB2 mutations, of which 11 were loss-of-function and 8 missense (e.g., 608148.0004-608148.0006). SATB2 nuclear mobility was mutation-dependent. The clinical features in individuals with missense variants were indistinguishable from those with loss-of-function variants. Bengani et al. (2017) found that when mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association. </p>
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<strong>Animal Model</strong>
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<p>The identification of SATB2 as a candidate gene responsible for the craniofacial dysmorphologies associated with deletions and translocations at 2q32-q33, 1 of only 3 regions of the genome for which haploinsufficiency has been significantly associated with isolated cleft palate, led Britanova et al. (2006) to investigate the in vivo functions of murine Satb2. They found that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in approximately 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. Full functional loss of Satb2 resulted in amplification of these defects and led to increased apoptosis in the craniofacial mesenchyme where Satb2 is usually expressed and of changes in the pattern of expression of 3 genes implicated in the regulation of craniofacial development in humans and mice: Pax9 (167416), Alx4 (605420), and Msx1 (142983). The Satb2 dosage sensitivity in craniofacial development was conspicuous; along with its control of cell survival, pattern of expression, and reversible functional modification by sumoylation, the dosage sensitivity suggested that Satb2/SATB2 function in craniofacial development may prove to be more profound than had been previously thought. Because jaw development is Satb2 dosage-sensitive, the regulators of Satb2 expression and posttranslational modification become of critical importance both ontogenetically and evolutionarily, especially since such regulators plausibly play undetected roles in jaw and palate development and in the etiology of craniofacial malformations. </p><p>Dobreva et al. (2006) found that Satb2 +/- mice were phenotypically normal and fertile. Satb2 -/- mice were obtained at the expected mendelian frequency, but they died immediately after birth. Satb2 -/- embryos showed multiple craniofacial defects, including truncation of the mandible, shortening of the nasal and maxillary bones, malformations of the hyoid bone, and cleft palate. At later stages, Satb2 -/- embryos exhibited a delay in bone formation. Satb2 -/- osteoblasts showed a marked decrease in terminal differentiation, as determined by an absence of Bsp and Ocn expression. Quantitative RT-PCR showed decreased expression of Lhx7 (LHX8; 604425) and increased expression of several Hox genes, including Hoxa2, in cells from the head and branchial arch regions of Satb2 -/- mice. In situ hybridization revealed altered expression of Lhx7, Msx1, and Hoxa2 in Satb2 -/- mice. Microarray analysis showed deregulation of multiple genes, including Lhx7 and Hoxa2, in Satb2 -/- calvarial osteoblasts, and RT-PCR and in situ hybridization confirmed upregulation of Hoxa2 in Satb2 -/- calvarial osteoblasts. Loss of Hoxa2 rescued the calvarial bone formation defect in Satb2 -/- mice, suggesting that repression of HOXA2 by SATB2 is important for normal osteoblast differentiation. </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>8 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 GLASS 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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SATB2, ARG239TER ({dbSNP rs137853127})
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<br />
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SNP: rs137853127,
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ClinVar: RCV000002627, RCV000256175, RCV001257620, RCV001261363, RCV004724726
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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 Thai man with Glass syndrome (GLASS; 612313), characterized by cleft palate, gum hyperplasia, slight micrognathia, generalized osteoporosis, and mental retardation, Leoyklang et al. (2007) identified a heterozygous de novo 715C-T transition in exon 6 of the SATB2 gene, resulting in an arg239-to-ter (R239X) substitution. CT scan of the facial bones revealed multiple anomalies, including asymmetric mandibular hypoplasia, wide mandibular angles, anterior overbite of the upper teeth with marked anterior-pointing incisors, midline cleft palate, abnormal sinuses, short zygomatic arches, and flattened mandibular condylar heads. The patient also had profound mental retardation, seizures, and a jovial personality. Expression studies showed that the truncated protein was expressed. The mutation was not identified in 210 control alleles. </p><p>Using immunofluorescence studies, Leoyklang et al. (2013) showed that the mutant R239X protein localized to the nucleus in HEK293 cells and was able to dimerize with the wildtype protein. Luciferase expression studies demonstrated that wildtype SATB2 inhibited transcriptional activity, whereas mutant SATB2 was similar to empty vector. Overall, the findings suggested that mutant SATB2 has a dominant-negative effect on the wildtype protein. </p><p>Docker et al. (2014) identified a de novo heterozygous R239X mutation (rs137853127) in a 3-year-old girl with cleft palate, severely delayed speech, hypotonia, and mental retardation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. She also had severe sleeping disturbances, restlessness/hyperactivity, and recurrent temper tantrums. Mutant mRNA was present in the patient's cells, suggesting that it does not undergo nonsense-mediated mRNA decay. </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 GLASS 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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SATB2, 35-KB DUP, EX5-7
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<br />
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ClinVar: RCV000201263
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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 20-year-old man with Glass syndrome (GLASS; 612313), Lieden et al. (2014) identified a de novo heterozygous intragenic duplication (chr2:200,233,354-200,255,458, GRCH37) of the SATB2 gene; the breakpoints were intronic and resulted in the duplication of exons 5, 6, and 7. The duplication was found by array CGH analysis. Functional studies and studies of patient cells were not performed. The phenotype in this patient was similar to that observed in other patients with this disorder. </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 GLASS 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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SATB2, 54-KB DUP, EX3
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<br />
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SNP: rs2105928778,
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ClinVar: RCV000202349
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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 10-year-old German girl with Glass syndrome (GLASS; 612313), Kaiser et al. (2015) identified a de novo heterozygous 54-kb duplication (c.169+9407_347-10003dup, NM_001172509.1) of exon 3 in the SATB2 gene. Sanger sequence analysis and studies of patient transcripts confirmed that the duplication was in tandem and resulted in an in-frame duplication of exon 3. The patient was born of unrelated parents and conceived via intracytoplasmic sperm injection. Further molecular studies were not performed; the authors postulated that the mutation resulted in haploinsufficiency. </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 GLASS 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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SATB2, ARG389CYS
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<br />
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ClinVar: RCV000430827, RCV000623230, RCV000656508, RCV002470857
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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 female (patient 271044) with Glass syndrome (GLASS; 612313) characterized by severe intellectual disability and a cleft palate due to Pierre-Robin sequence, Bengani et al. (2017) identified a de novo heterozygous C-to-T transition at nucleotide c.1165 (c.1165C-T, ENST00000417098) of the SATB2 gene, resulting in an arginine-to-cysteine substitution at codon 386 (R389C), in the CUT1 domain. Hamosh (2018) noted that the c.1165C-T variant was not present in the ExAC or gnomAD databases (June 14, 2018). Transient transfection of mutant constructs revealed that SATB2 nuclear mobility was increased by this mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 GLASS 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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SATB2, GLY515SER
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<br />
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SNP: rs1553544187,
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ClinVar: RCV000656510
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a male (patient 262240) with Glass syndrome (GLASS; 612313) with severe intellectual disability but absent cleft palate, Bengani et al. (2017) identified a de novo heterozygous G-to-A transition at nucleotide c.1543 (c.1543G-A, ENST00000417098) of the SATB2 gene resulting in a glycine-to-serine substitution at codon 515 (G515S), between the CUT2 and HOX domains. Hamosh (2018) noted that the c.1543G-A variant was not present in the ExAC or gnomAD databases (June 14, 2018). Transient transfection of mutant constructs revealed that this variant resulted in decreased nuclear mobility of SATB2. This patient was reported in the Deciphering Developmental Disorders Study (2015) with clinical features of seizures; delayed speech and language development; frontal bossing; deeply set eyes; abnormal hair pattern; strabismus; and smooth philtrum. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 GLASS SYNDROME</strong>
|
|
</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
SATB2, GLU566LYS
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<br />
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|
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SNP: rs1064795530,
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|
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ClinVar: RCV000482629, RCV000656509
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a female (patient 264840) with Glass syndrome (GLASS; 612313), Bengani et al. (2017) identified a de novo heterozygous G-to-A transition at nucleotide c.1696 (c.1696G-A, ENST00000417098) of the SATB2 gene resulting in a glutamic acid-to-lysine substitution at codon 566 (E566K). Hamosh (2018) noted that the c.1696G-A variant was not present in the ExAC or gnomAD databases (June 14, 2018). The mutation occurred between the CUT2 and HOX domains; transient transfection of mutant constructs revealed that this variant resulted in reduced SATB2 nuclear mobility. This variant also appeared as Gln566Lys in the text and figures of the report by Bengani et al. (2017). </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLASS SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
SATB2, ARG239TER
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<br />
|
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|
|
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|
|
ClinVar: RCV000002627, RCV000256175, RCV001257620, RCV001261363, RCV004724726
|
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|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Japanese girl (patient 1) with Glass syndrome (GLASS; 612313), Yamada et al. (2019) identified a de novo heterozygous c.715C-T transition (c.715C-T, NM_001172509.1) in the SAT2B gene, resulting in an arg239-to-ter (R239X) substitution. The mutation was identified by trio whole-exome sequencing. Functional studies were not performed. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLASS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
SATB2, 1-BP DEL, 2104G
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<br />
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ClinVar: RCV003322652
|
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|
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</span>
|
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</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Japanese girl (patient 2) with Glass syndrome (GLASS; 612313), Yamada et al. (2019) identified heterozygosity for a 1-bp deletion (c.2104delG, NM_001172509.1) in the SATB2 gene, predicted to result in a frameshift and premature termination (Asp702ThrfsTer38). The mutation, which was identified by whole-exome sequencing, was not present in her father, but her mother could not be tested. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>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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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., and 22 others.
|
|
<strong>Clinical and molecular consequences of disease-associated de novo mutations in SATB2.</strong>
|
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Genet. Med. 19: 900-908, 2017.
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[PubMed: 28151491]
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[Full Text: https://doi.org/10.1038/gim.2016.211]
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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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Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R.
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<strong>A locus for isolated cleft palate, located on human chromosome 2q32.</strong>
|
|
Am. J. Hum. Genet. 65: 387-396, 1999.
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[PubMed: 10417281]
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[Full Text: https://doi.org/10.1086/302498]
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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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Britanova, O., Depew, M. J., Schwark, M., Thomas, B. L., Miletich, I., Sharpe, P., Tarabykin, V.
|
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<strong>Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.</strong>
|
|
Am. J. Hum. Genet. 79: 668-678, 2006.
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[PubMed: 16960803]
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[Full Text: https://doi.org/10.1086/508214]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Deciphering Developmental Disorders Study.
|
|
<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
|
|
Nature 519: 223-228, 2015.
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|
[PubMed: 25533962]
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[Full Text: https://doi.org/10.1038/nature14135]
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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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Dobreva, G., Chahrour, M., Dautzenberg, M., Chirivella, L., Kanzler, B., Farinas, I., Karsenty, G., Grosschedl, R.
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|
<strong>SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.</strong>
|
|
Cell 125: 971-986, 2006.
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[PubMed: 16751105]
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[Full Text: https://doi.org/10.1016/j.cell.2006.05.012]
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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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Dobreva, G., Dambacher, J., Grosschedl, R.
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<strong>SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression.</strong>
|
|
Genes Dev. 17: 3048-3061, 2003.
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[PubMed: 14701874]
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[Full Text: https://doi.org/10.1101/gad.1153003]
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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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Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D.
|
|
<strong>Further delineation of the SATB2 phenotype.</strong>
|
|
Europ. J. Hum. Genet. 22: 1034-1039, 2014.
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[PubMed: 24301056]
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[Full Text: https://doi.org/10.1038/ejhg.2013.280]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
FitzPatrick, D. R., Carr, I. M., McLaren, L., Leek, J. P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A. F., Fantes, J. A., Bonthron, D. T.
|
|
<strong>Identification of SATB2 as the cleft palate gene on 2q32-q33.</strong>
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Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V.
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<strong>Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.</strong>
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Hum. Genet. 132: 1383-1393, 2013.
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Machado, R. D., Pauciulo, M. W., Fretwell, N., Veal, C., Thomson, J. R., Guell, C. V., Aldred, M., Brannon, C. A., the International PPH Consortium, Trembath, R. C., Nichols, W. C.
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Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A., FitzPatrick, D. R.
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<strong>Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.</strong>
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Rosenfeld, J. A., Ballif, B. C., Lucas, A., Spence, E. J., Powell, C., Aylsworth, A. S., Torchia, B. A., Shaffer, L. G.
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<strong>Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.</strong>
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Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S., Kosaki, K.
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