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Entry
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- *600898 - SRY-BOX 11; SOX11
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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">*600898</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600898">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000176887;t=ENST00000322002" 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=6664" 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=600898" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000176887;t=ENST00000322002" 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_003108" 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_003108" 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=600898" 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=02940&isoform_id=02940_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/SOX11" 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/312150,974248,1351142,4507161,6527112,62630185,116283717,119621452" 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/P35716" 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=6664" 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=ENSG00000176887;t=ENST00000322002" 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=SOX11" 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=SOX11" 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+6664" 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/SOX11" 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:6664" 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/6664" 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=ENST00000322002.5&hgg_start=5692384&hgg_end=5701385&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:11191" 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://medlineplus.gov/genetics/gene/sox11" 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=600898[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=600898[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/SOX11/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/ENSG00000176887" 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=SOX11" 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=SOX11" 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=SOX11" 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=SOX11&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/PA36028" 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:11191" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:98359" 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/SOX11#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:98359" 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/6664/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=6664" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004771;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004771 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015716;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015716 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-980526-395" 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=SOX11&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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600898
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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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SRY-BOX 11; SOX11
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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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SRY-RELATED HMG-BOX GENE 11
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SOX11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SOX11</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/2/22?start=-3&limit=10&highlight=22">2p25.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:5692384-5701385&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'})">2:5,692,384-5,701,385</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/2/22?start=-3&limit=10&highlight=22">
|
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2p25.2
|
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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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Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615866"> 615866 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</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/600898" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600898" 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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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
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<p>Using the partial clones of both human and mouse SOX11 genes, <a href="#6" class="mim-tip-reference" title="Jay, P., Goze, C., Marsollier, C., Taviaux, S., Hardelin, J.-P., Koopman, P., Berta, P. <strong>The human SOX11 gene: cloning, chromosomal assignment and tissue expression.</strong> Genomics 29: 541-545, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666406</a>] [<a href="https://doi.org/10.1006/geno.1995.9970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666406">Jay et al. (1995)</a> cloned and characterized the human SOX11 gene. The SOX11 sequence is strongly conserved with the chicken homolog and is related to SOX4. It contains several putative transcriptional activator or repressor domains. The authors observed that the SOX11 expression pattern is consistent with the hypothesis that this gene is important in the developing nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666406" 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="Jay, P., Goze, C., Marsollier, C., Taviaux, S., Hardelin, J.-P., Koopman, P., Berta, P. <strong>The human SOX11 gene: cloning, chromosomal assignment and tissue expression.</strong> Genomics 29: 541-545, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666406</a>] [<a href="https://doi.org/10.1006/geno.1995.9970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666406">Jay et al. (1995)</a> mapped the SOX11 gene to chromosome 2p25 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666406" 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="#8" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> identified a conserved nonexonic element (E4), located 7.3 kb downstream of the Fezf2 (<a href="/entry/607414">607414</a>) transcription start site, that is required for the specification of corticospinal neuron identity and connectivity. <a href="#8" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> found that Sox4 (<a href="/entry/184430">184430</a>) and Sox11 functionally compete with the repressor Sox5 (<a href="/entry/604975">604975</a>) in the transactivation of E4. <a href="#8" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> showed that SOX4 and SOX11 are crucial in regulating reelin (RELN; <a href="/entry/600514">600514</a>) expression and the inside-out pattern of cortical layer formation, independent of E4 or Fezf2 and probably involving interactions with distinct regulatory elements. Cortex-specific double deletion of Sox4 and Sox11 led to the loss of Fezf2 expression, failed specification of corticospinal neurons and, independent of Fezf2, a reeler-like inversion of layers. Moreover, SOX4 and SOX11 have additional roles, since in mice lacking both genes, the cortex and olfactory bulb are smaller and cell death is increased. Thus, SOX4 and SOX11 have pleiotropic functions, which are probably mediated by distinct regulatory elements and downstream target genes that are involved in multiple developmental processes. <a href="#8" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> showed evidence supporting the emergence of functional SOX-binding sites in E4 during tetrapod evolution, and their subsequent stabilization in mammals and possibly amniotes. <a href="#8" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> concluded that SOX transcription factors converge onto a cis-acting element of Fezf2 and form critical components of a regulatory network controlling the identity and connectivity of corticospinal neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22678282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#4" class="mim-tip-reference" title="Dodonova, S. O., Zhu, F., Dienemann, C., Taipale, J., Cramer, P. <strong>Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function.</strong> Nature 580: 669-672, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350470</a>] [<a href="https://doi.org/10.1038/s41586-020-2195-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32350470">Dodonova et al. (2020)</a> reported cryoelectron microscopy structures of the DNA-binding domains of SOX2 (<a href="/entry/184429">184429</a>) and its close homolog SOX11 bound to nucleosomes. The structures showed that SOX factors can bind and locally distort DNA at superhelical location 2. The factors also facilitated detachment of terminal nucleosomal DNA from the histone octamer, which increases DNA accessibility. SOX-factor binding to the nucleosome can also lead to a repositioning of the N-terminal tail of histone H4 (see <a href="/entry/602822">602822</a>) that includes residue lys16. <a href="#4" class="mim-tip-reference" title="Dodonova, S. O., Zhu, F., Dienemann, C., Taipale, J., Cramer, P. <strong>Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function.</strong> Nature 580: 669-672, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350470</a>] [<a href="https://doi.org/10.1038/s41586-020-2195-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32350470">Dodonova et al. (2020)</a> speculated that this repositioning is incompatible with higher-order nucleosome stacking, which involves contacts of the H4 tail with a neighboring nucleosome. <a href="#4" class="mim-tip-reference" title="Dodonova, S. O., Zhu, F., Dienemann, C., Taipale, J., Cramer, P. <strong>Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function.</strong> Nature 580: 669-672, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350470</a>] [<a href="https://doi.org/10.1038/s41586-020-2195-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32350470">Dodonova et al. (2020)</a> concluded that pioneer transcription factors that maintain pluripotency can use binding energy to initiate chromatin opening, and thereby facilitate nucleosome remodeling and subsequent transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32350470" 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>SRY (<a href="/entry/480000">480000</a>) is the testis-determining gene located on the Y chromosome of mammals. It encodes a protein whose most striking feature is a motif of 78 amino acids conserved with respect to the DNA binding domain of the high mobility group (HMG) proteins. <a href="#6" class="mim-tip-reference" title="Jay, P., Goze, C., Marsollier, C., Taviaux, S., Hardelin, J.-P., Koopman, P., Berta, P. <strong>The human SOX11 gene: cloning, chromosomal assignment and tissue expression.</strong> Genomics 29: 541-545, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666406</a>] [<a href="https://doi.org/10.1006/geno.1995.9970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666406">Jay et al. (1995)</a> noted that more than 100 HMG box-containing proteins had been reported at that time and are classified in 2 distinct subgroups according to the sequence-specificity of the binding, the number of DNA binding domains, and phylogenetic considerations (<a href="#7" class="mim-tip-reference" title="Laudet, V., Stehelin, D., Clevers, H. <strong>Ancestry and diversity of the HMG box superfamily.</strong> Nucleic Acids Res. 21: 2493-2501, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506143</a>] [<a href="https://doi.org/10.1093/nar/21.10.2493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506143">Laudet et al., 1993</a>). An important subgroup of HMG box-containing proteins includes SRY and SRY box-related (SOX) sequences. They contain only 1 DNA-binding domain, and they bind to DNA in a sequence-specific manner. They are all potential transcription factors implicated in the developmental control of gene expression. Degenerate PCR-based methods enabled the cloning and sequencing of a great number of new SRY-related box sequences in both vertebrates and invertebrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8666406+8506143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N. <strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong> Nature Commun. 5: 4011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>] [<a href="https://doi.org/10.1038/ncomms5011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886874">Tsurusaki et al. (2014)</a> identified 2 de novo missense mutations in the SOX11 gene (Y116C, <a href="#0001">600898.0001</a> and S60P, <a href="#0002">600898.0002</a>) in 2 unrelated female patients with intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH; <a href="/entry/615866">615866</a>), also referred to as Coffin-Siris syndrome-9 (CSS9). Both mutations occurred in the HMG domain in 2 evolutionarily conserved amino acids. <a href="#9" class="mim-tip-reference" title="Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N. <strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong> Nature Commun. 5: 4011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>] [<a href="https://doi.org/10.1038/ncomms5011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886874">Tsurusaki et al. (2014)</a> showed that both mutations caused decreased transcriptional activation compared to wildtype. SOX11 is exclusively expressed in fetal and adult brain and in adult heart. Targeted disruption of Sox11 in mice resulted in a 23% birth weight reduction and lethality after the first postnatal week in homozygotes, due to hypoplastic lungs and ventricular septation defects. In addition, skeletal malformations, including of phalanges, and abdominal defects were observed. Physical and functional abnormalities in heterozygotes had not been described. Sox11 knockdown experiments in zebrafish showed microcephaly and brain abnormalities. <a href="#9" class="mim-tip-reference" title="Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N. <strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong> Nature Commun. 5: 4011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>] [<a href="https://doi.org/10.1038/ncomms5011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886874">Tsurusaki et al. (2014)</a> commented that SOX11 is the downstream transcriptional factor of the PAX6 (<a href="/entry/607108">607108</a>)-BAF (<a href="/entry/603811">603811</a>) complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with IDDMOH, <a href="#10" class="mim-tip-reference" title="Wakim, V., Nair, P., Delague, V., Bizzari, S., Al-Ali, M. T., Castro, C., Gambarini, A., El-Hayek, S., Megarbane, A. <strong>SOX11-related syndrome: report on a new case and review.</strong> Clin. Dysmorph. 30: 44-49, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33086258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33086258</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33086258">Wakim et al. (2021)</a> identified a de novo heterozygous missense mutation in the HMG domain of the SOX11 gene (I49N; <a href="#0003">600898.0003</a>). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33086258" 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 mother and her 2 daughters with IDDMOH, <a href="#5" class="mim-tip-reference" title="Hanker, B., Gillessen-Kaesbach, G., Huning, I., Ludecke, H. J., Wieczorek, D. <strong>Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.</strong> Europ. J. Hum. Genet. 30: 126-132, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33785884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33785884</a>] [<a href="https://doi.org/10.1038/s41431-021-00865-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33785884">Hanker et al. (2022)</a> identified a heterozygous missense mutation in the SOX11 gene (G47S; <a href="#0004">600898.0004</a>). The mutation was identified by sequencing of a next-generation sequencing panel and confirmed by Sanger sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33785884" 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 boys with IDDMOH, <a href="#2" class="mim-tip-reference" title="Alburaiky, S., Taylor, J., O'Grady, G., Thomson, G., Perry, D., England, E. M., Yap, P. <strong>Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.</strong> Am. J. Med. Genet. 188A: 2460-2465, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35642566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35642566</a>] [<a href="https://doi.org/10.1002/ajmg.a.62851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35642566">Alburaiky et al. (2022)</a> identified de novo heterozygous missense mutations in the SOX11 gene (R100P; <a href="#0005">600898.0005</a>; N76D, <a href="#0006">600898.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35642566" 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 Chinese patients with IDDMOH, <a href="#3" class="mim-tip-reference" title="Ding, Y., Chen, J., Tang, Y., Chen, L. N., Yao, R. E., Yu, T., Yin, Y., Wang, X., Wang, J., Li, N. <strong>Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.</strong> Front. Genet. 13: 940776, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35938035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35938035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35938035[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/10.3389/fgene.2022.940776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35938035">Ding et al. (2022)</a> identified de novo heterozygous mutations in the SOX11 gene (K274X; <a href="#0007">600898.0007</a>; Y113H, <a href="#0008">600898.0008</a>). The K274X mutation was predicted to result in nonsense-mediated mRNA decay. A luciferase assay using a reporter construct with a fragment of the GDF5 promoter showed that SOX11 with the Y113H mutation resulted in decreased transcriptional activity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35938035" 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="Al-Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., and 44 others. <strong>SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.</strong> Genet. Med. 24: 1261-1273, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35341651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35341651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35341651[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.gim.2022.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35341651">Al-Jawahiri et al. (2022)</a> reported heterozygous mutations in the SOX11 gene in 38 patients, including 2 sib pairs, with IDDMOH. The mutations included 25 different missense mutations, 4 truncating mutations, and 4 microdeletions. None of the mutations were present in the gnomAD database. Most of the missense mutations were located in the HMG domain. A luciferase assay using a reporter construct with the GDF5 promoter showed that SOX11 with either the A176E, Y294X or Gly384ArgfsTer14 mutation resulted in decreased transcriptional activity compared to wildtype. The transcriptional defects were more severe in the 2 protein-truncating mutations compared to the missense mutation. Methylation analysis in peripheral blood from 10 patients with IDDMOH demonstrated a hypomethylation pattern that was distinct from other BAFopathy complex epigenetic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35341651" 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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<strong>8 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600898[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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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</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">rs587777479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777479;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=rs587777479" 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=rs587777479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Japanese girl with intellectual developmental disorder with microcephaly (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#9" class="mim-tip-reference" title="Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N. <strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong> Nature Commun. 5: 4011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>] [<a href="https://doi.org/10.1038/ncomms5011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886874">Tsurusaki et al. (2014)</a> identified a c.347A-G transition in the SOX11 gene, resulting in a tyr116-to-cys (Y116C) substitution. The mutation, which occurred as a de novo event, disrupted an amino acid conserved from zebrafish to human located in the HMG domain. The mutation was not identified in the 1000 Genomes Project, Exome Variant Server, or in-house databases. The patient showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mildly impaired intellectual development. The authors described the disorder as mild Coffin-Siris syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886874" 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>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND HYPOGONADOTROPIC HYPOGONADISM</strong>
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<p>In a 17-year-old Indian girl with intellectual developmental disorder with microcephaly and hypogonadotropic hypogonadism (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#9" class="mim-tip-reference" title="Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N. <strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong> Nature Commun. 5: 4011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>] [<a href="https://doi.org/10.1038/ncomms5011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886874">Tsurusaki et al. (2014)</a> identified a c.178T-C transition in the SOX11 gene, resulting in a ser60-to-pro (S60P) substitution. The mutation, which occurred as a de novo event, disrupted an amino acid conserved from zebrafish to human located in the HMG domain. The mutation was not identified in the 1000 Genomes Project, Exome Variant Server, or in-house databases. The patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mildly impaired intellectual development. Ultrasonographic examination at age 16 years showed a hypoplastic uterus. No secondary sexual characteristics were recognized until menarche at age 17. The authors described the disorder as mild Coffin-Siris syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</strong>
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<p>In a Lebanese boy with intellectual developmental disorder with microcephaly and without ocular malformations or hypogonadotropic hypogonadism (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#10" class="mim-tip-reference" title="Wakim, V., Nair, P., Delague, V., Bizzari, S., Al-Ali, M. T., Castro, C., Gambarini, A., El-Hayek, S., Megarbane, A. <strong>SOX11-related syndrome: report on a new case and review.</strong> Clin. Dysmorph. 30: 44-49, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33086258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33086258</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33086258">Wakim et al. (2021)</a> identified heterozygosity for a c.146T-A transition in the SOX11 gene, resulting in an ile49-to-asn (I49N) substitution at a conserved residue in the HMG domain. The mutation, which was identified by whole-exome sequencing and confirmed with Sanger sequencing, was found to be de novo. The mutation was not present in the gnomAD and 1000 Genomes databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33086258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND OCULAR MALFORMATIONS</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003150868" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003150868" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003150868</a>
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<p>In a mother and her 2 daughters with intellectual developmental disorder with microcephaly and ocular malformations (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#5" class="mim-tip-reference" title="Hanker, B., Gillessen-Kaesbach, G., Huning, I., Ludecke, H. J., Wieczorek, D. <strong>Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.</strong> Europ. J. Hum. Genet. 30: 126-132, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33785884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33785884</a>] [<a href="https://doi.org/10.1038/s41431-021-00865-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33785884">Hanker et al. (2022)</a> identified heterozygosity for a c.139G-A transition (c.139G-A, NM_003108.3) in the SOX11 gene, resulting in a gly47-to-ser (G47S) substitution. The mutation, which was identified by sequencing of a next-generation sequencing panel of 8 genes and confirmed by Sanger sequencing, segregated with disease in the family. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33785884" 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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND OCULAR MALFORMATIONS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1064794628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064794628;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1064794628?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1064794628" 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=rs1064794628" 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=RCV000481795 OR RCV003150820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000481795, RCV003150820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000481795...</a>
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<p>In a boy (patient 1) with intellectual developmental disorder with microcephaly and ocular malformations (IDDMOH; <a href="/entry/615866">615866</a>), who also had bilateral cryptorchidism and micropenis, <a href="#2" class="mim-tip-reference" title="Alburaiky, S., Taylor, J., O'Grady, G., Thomson, G., Perry, D., England, E. M., Yap, P. <strong>Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.</strong> Am. J. Med. Genet. 188A: 2460-2465, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35642566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35642566</a>] [<a href="https://doi.org/10.1002/ajmg.a.62851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35642566">Alburaiky et al. (2022)</a> identified de novo heterozygosity for a c.299G-C transversion (299G-C, NM_003108.3) in the SOX11 gene, resulting in an arg100-to-pro (R100P) 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=35642566" 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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR MALFORMATIONS</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">rs1665660543 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1665660543;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=rs1665660543" 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=rs1665660543" 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=RCV001246232 OR RCV003150825" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001246232, RCV003150825" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001246232...</a>
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<p>In a boy (patient 2) with intellectual developmental disorder with ocular malformations (IDDMOH; <a href="/entry/615866">615866</a>), who had a head circumference on the 25th percentile at age 2 years, an underdeveloped scrotum, and palpable testes, <a href="#2" class="mim-tip-reference" title="Alburaiky, S., Taylor, J., O'Grady, G., Thomson, G., Perry, D., England, E. M., Yap, P. <strong>Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.</strong> Am. J. Med. Genet. 188A: 2460-2465, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35642566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35642566</a>] [<a href="https://doi.org/10.1002/ajmg.a.62851" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35642566">Alburaiky et al. (2022)</a> identified de novo heterozygosity for a c.226A-G transition (c.226A-G, NM_003108.4) in the SOX11 gene, resulting in an asn76-to-asp (N76D) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35642566" 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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR MALFORMATIONS</strong>
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SOX11, LYS274TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003150872" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003150872" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003150872</a>
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<p>In a Chinese girl (patient 2) with intellectual developmental disorder with ocular malformations (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#3" class="mim-tip-reference" title="Ding, Y., Chen, J., Tang, Y., Chen, L. N., Yao, R. E., Yu, T., Yin, Y., Wang, X., Wang, J., Li, N. <strong>Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.</strong> Front. Genet. 13: 940776, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35938035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35938035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35938035[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/10.3389/fgene.2022.940776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35938035">Ding et al. (2022)</a> identified de novo heterozygosity for a c.820A-T transversion (c.820A-T, NM_003108.4) in the SOX11 gene, resulting in a lys274-to-ter (K274X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was predicted to result in nonsense-mediated mRNA decay. (In the article by <a href="#3" class="mim-tip-reference" title="Ding, Y., Chen, J., Tang, Y., Chen, L. N., Yao, R. E., Yu, T., Yin, Y., Wang, X., Wang, J., Li, N. <strong>Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.</strong> Front. Genet. 13: 940776, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35938035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35938035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35938035[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/10.3389/fgene.2022.940776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35938035">Ding et al. (2022)</a>, the mutation is given as K142X in the abstract, but as K274X in figure 2 and the text.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35938035" 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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</strong>
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SOX11, TYR113HIS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003150869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003150869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003150869</a>
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<p>In a Chinese boy (patient 3) with intellectual developmental disorder and microcephaly (IDDMOH; <a href="/entry/615866">615866</a>), <a href="#3" class="mim-tip-reference" title="Ding, Y., Chen, J., Tang, Y., Chen, L. N., Yao, R. E., Yu, T., Yin, Y., Wang, X., Wang, J., Li, N. <strong>Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.</strong> Front. Genet. 13: 940776, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35938035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35938035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35938035[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/10.3389/fgene.2022.940776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35938035">Ding et al. (2022)</a> identified a de novo heterozygous c.337T-C transition (c.337T-C, NM_003108.4) in the SOX11 gene, resulting in a tyr113-to-his (Y113H) substitution in the HMG domain. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. A luciferase assay using a reporter construct with a fragment of the GDF5 promoter, showed that SOX11 with the Y113H mutation resulted in decreased transcriptional activity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35938035" 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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<a id="Al-Jawahiri2022" class="mim-anchor"></a>
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Al-Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., and 44 others.
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<strong>SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.</strong>
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Genet. Med. 24: 1261-1273, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35341651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35341651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35341651[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=35341651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.gim.2022.02.013" target="_blank">Full Text</a>]
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Alburaiky, S., Taylor, J., O'Grady, G., Thomson, G., Perry, D., England, E. M., Yap, P.
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<strong>Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.</strong>
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Am. J. Med. Genet. 188A: 2460-2465, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35642566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35642566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35642566" 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.62851" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Ding2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ding, Y., Chen, J., Tang, Y., Chen, L. N., Yao, R. E., Yu, T., Yin, Y., Wang, X., Wang, J., Li, N.
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<strong>Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.</strong>
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Front. Genet. 13: 940776, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35938035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35938035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35938035[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=35938035" 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/10.3389/fgene.2022.940776" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Dodonova2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dodonova, S. O., Zhu, F., Dienemann, C., Taipale, J., Cramer, P.
|
|
<strong>Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function.</strong>
|
|
Nature 580: 669-672, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32350470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32350470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32350470" 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/s41586-020-2195-y" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Hanker2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanker, B., Gillessen-Kaesbach, G., Huning, I., Ludecke, H. J., Wieczorek, D.
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<strong>Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.</strong>
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Europ. J. Hum. Genet. 30: 126-132, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33785884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33785884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33785884" 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/s41431-021-00865-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Jay1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Jay, P., Goze, C., Marsollier, C., Taviaux, S., Hardelin, J.-P., Koopman, P., Berta, P.
|
|
<strong>The human SOX11 gene: cloning, chromosomal assignment and tissue expression.</strong>
|
|
Genomics 29: 541-545, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8666406" 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/10.1006/geno.1995.9970" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Laudet1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Laudet, V., Stehelin, D., Clevers, H.
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|
<strong>Ancestry and diversity of the HMG box superfamily.</strong>
|
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Nucleic Acids Res. 21: 2493-2501, 1993.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8506143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/21.10.2493" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Shim2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N.
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<strong>Cis-regulatory control of corticospinal system development and evolution.</strong>
|
|
Nature 486: 74-79, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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=22678282" 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/nature11094" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Tsurusaki2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N.
|
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<strong>De novo SOX11 mutations cause Coffin-Siris syndrome.</strong>
|
|
Nature Commun. 5: 4011, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886874" 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/ncomms5011" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Wakim2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wakim, V., Nair, P., Delague, V., Bizzari, S., Al-Ali, M. T., Castro, C., Gambarini, A., El-Hayek, S., Megarbane, A.
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|
<strong>SOX11-related syndrome: report on a new case and review.</strong>
|
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Clin. Dysmorph. 30: 44-49, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33086258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33086258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33086258" 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/10.1097/MCD.0000000000000348" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/02/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/08/2020<br>Ada Hamosh - updated : 6/26/2014<br>Ada Hamosh - updated : 7/17/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/25/1995
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/14/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/06/2023<br>carol : 02/03/2023<br>carol : 02/02/2023<br>carol : 02/02/2023<br>alopez : 06/08/2020<br>alopez : 07/16/2019<br>carol : 11/06/2014<br>alopez : 6/26/2014<br>alopez : 7/17/2012<br>terry : 7/17/2012<br>ckniffin : 10/15/2003<br>dkim : 12/4/1998<br>carol : 5/27/1998<br>mark : 6/25/1996<br>mark : 10/25/1995
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600898
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SRY-BOX 11; SOX11
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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SRY-RELATED HMG-BOX GENE 11
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SOX11</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 2p25.2
|
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:5,692,384-5,701,385 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
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|
Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
2p25.2
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
615866
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Using the partial clones of both human and mouse SOX11 genes, Jay et al. (1995) cloned and characterized the human SOX11 gene. The SOX11 sequence is strongly conserved with the chicken homolog and is related to SOX4. It contains several putative transcriptional activator or repressor domains. The authors observed that the SOX11 expression pattern is consistent with the hypothesis that this gene is important in the developing nervous system. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
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|
<span class="mim-text-font">
|
|
<p>Jay et al. (1995) mapped the SOX11 gene to chromosome 2p25 by fluorescence in situ hybridization. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
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</div>
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<span class="mim-text-font">
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<p>Shim et al. (2012) identified a conserved nonexonic element (E4), located 7.3 kb downstream of the Fezf2 (607414) transcription start site, that is required for the specification of corticospinal neuron identity and connectivity. Shim et al. (2012) found that Sox4 (184430) and Sox11 functionally compete with the repressor Sox5 (604975) in the transactivation of E4. Shim et al. (2012) showed that SOX4 and SOX11 are crucial in regulating reelin (RELN; 600514) expression and the inside-out pattern of cortical layer formation, independent of E4 or Fezf2 and probably involving interactions with distinct regulatory elements. Cortex-specific double deletion of Sox4 and Sox11 led to the loss of Fezf2 expression, failed specification of corticospinal neurons and, independent of Fezf2, a reeler-like inversion of layers. Moreover, SOX4 and SOX11 have additional roles, since in mice lacking both genes, the cortex and olfactory bulb are smaller and cell death is increased. Thus, SOX4 and SOX11 have pleiotropic functions, which are probably mediated by distinct regulatory elements and downstream target genes that are involved in multiple developmental processes. Shim et al. (2012) showed evidence supporting the emergence of functional SOX-binding sites in E4 during tetrapod evolution, and their subsequent stabilization in mammals and possibly amniotes. Shim et al. (2012) concluded that SOX transcription factors converge onto a cis-acting element of Fezf2 and form critical components of a regulatory network controlling the identity and connectivity of corticospinal neurons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
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Dodonova et al. (2020) reported cryoelectron microscopy structures of the DNA-binding domains of SOX2 (184429) and its close homolog SOX11 bound to nucleosomes. The structures showed that SOX factors can bind and locally distort DNA at superhelical location 2. The factors also facilitated detachment of terminal nucleosomal DNA from the histone octamer, which increases DNA accessibility. SOX-factor binding to the nucleosome can also lead to a repositioning of the N-terminal tail of histone H4 (see 602822) that includes residue lys16. Dodonova et al. (2020) speculated that this repositioning is incompatible with higher-order nucleosome stacking, which involves contacts of the H4 tail with a neighboring nucleosome. Dodonova et al. (2020) concluded that pioneer transcription factors that maintain pluripotency can use binding energy to initiate chromatin opening, and thereby facilitate nucleosome remodeling and subsequent transcription. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>SRY (480000) is the testis-determining gene located on the Y chromosome of mammals. It encodes a protein whose most striking feature is a motif of 78 amino acids conserved with respect to the DNA binding domain of the high mobility group (HMG) proteins. Jay et al. (1995) noted that more than 100 HMG box-containing proteins had been reported at that time and are classified in 2 distinct subgroups according to the sequence-specificity of the binding, the number of DNA binding domains, and phylogenetic considerations (Laudet et al., 1993). An important subgroup of HMG box-containing proteins includes SRY and SRY box-related (SOX) sequences. They contain only 1 DNA-binding domain, and they bind to DNA in a sequence-specific manner. They are all potential transcription factors implicated in the developmental control of gene expression. Degenerate PCR-based methods enabled the cloning and sequencing of a great number of new SRY-related box sequences in both vertebrates and invertebrates. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tsurusaki et al. (2014) identified 2 de novo missense mutations in the SOX11 gene (Y116C, 600898.0001 and S60P, 600898.0002) in 2 unrelated female patients with intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH; 615866), also referred to as Coffin-Siris syndrome-9 (CSS9). Both mutations occurred in the HMG domain in 2 evolutionarily conserved amino acids. Tsurusaki et al. (2014) showed that both mutations caused decreased transcriptional activation compared to wildtype. SOX11 is exclusively expressed in fetal and adult brain and in adult heart. Targeted disruption of Sox11 in mice resulted in a 23% birth weight reduction and lethality after the first postnatal week in homozygotes, due to hypoplastic lungs and ventricular septation defects. In addition, skeletal malformations, including of phalanges, and abdominal defects were observed. Physical and functional abnormalities in heterozygotes had not been described. Sox11 knockdown experiments in zebrafish showed microcephaly and brain abnormalities. Tsurusaki et al. (2014) commented that SOX11 is the downstream transcriptional factor of the PAX6 (607108)-BAF (603811) complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development. </p><p>In a patient with IDDMOH, Wakim et al. (2021) identified a de novo heterozygous missense mutation in the HMG domain of the SOX11 gene (I49N; 600898.0003). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies were not performed. </p><p>In a mother and her 2 daughters with IDDMOH, Hanker et al. (2022) identified a heterozygous missense mutation in the SOX11 gene (G47S; 600898.0004). The mutation was identified by sequencing of a next-generation sequencing panel and confirmed by Sanger sequencing. Functional studies were not performed. </p><p>In 2 unrelated boys with IDDMOH, Alburaiky et al. (2022) identified de novo heterozygous missense mutations in the SOX11 gene (R100P; 600898.0005; N76D, 600898.0006). </p><p>In 2 unrelated Chinese patients with IDDMOH, Ding et al. (2022) identified de novo heterozygous mutations in the SOX11 gene (K274X; 600898.0007; Y113H, 600898.0008). The K274X mutation was predicted to result in nonsense-mediated mRNA decay. A luciferase assay using a reporter construct with a fragment of the GDF5 promoter showed that SOX11 with the Y113H mutation resulted in decreased transcriptional activity compared to wildtype. </p><p>Al-Jawahiri et al. (2022) reported heterozygous mutations in the SOX11 gene in 38 patients, including 2 sib pairs, with IDDMOH. The mutations included 25 different missense mutations, 4 truncating mutations, and 4 microdeletions. None of the mutations were present in the gnomAD database. Most of the missense mutations were located in the HMG domain. A luciferase assay using a reporter construct with the GDF5 promoter showed that SOX11 with either the A176E, Y294X or Gly384ArgfsTer14 mutation resulted in decreased transcriptional activity compared to wildtype. The transcriptional defects were more severe in the 2 protein-truncating mutations compared to the missense mutation. Methylation analysis in peripheral blood from 10 patients with IDDMOH demonstrated a hypomethylation pattern that was distinct from other BAFopathy complex epigenetic disorders. </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 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</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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SOX11, TYR116CYS
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<br />
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SNP: rs587777479,
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ClinVar: RCV000128428
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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 Japanese girl with intellectual developmental disorder with microcephaly (IDDMOH; 615866), Tsurusaki et al. (2014) identified a c.347A-G transition in the SOX11 gene, resulting in a tyr116-to-cys (Y116C) substitution. The mutation, which occurred as a de novo event, disrupted an amino acid conserved from zebrafish to human located in the HMG domain. The mutation was not identified in the 1000 Genomes Project, Exome Variant Server, or in-house databases. The patient showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mildly impaired intellectual development. The authors described the disorder as mild Coffin-Siris syndrome. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND HYPOGONADOTROPIC HYPOGONADISM</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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SOX11, SER60PRO
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<br />
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SNP: rs587777480,
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ClinVar: RCV000128429
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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 17-year-old Indian girl with intellectual developmental disorder with microcephaly and hypogonadotropic hypogonadism (IDDMOH; 615866), Tsurusaki et al. (2014) identified a c.178T-C transition in the SOX11 gene, resulting in a ser60-to-pro (S60P) substitution. The mutation, which occurred as a de novo event, disrupted an amino acid conserved from zebrafish to human located in the HMG domain. The mutation was not identified in the 1000 Genomes Project, Exome Variant Server, or in-house databases. The patients showed dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mildly impaired intellectual development. Ultrasonographic examination at age 16 years showed a hypoplastic uterus. No secondary sexual characteristics were recognized until menarche at age 17. The authors described the disorder as mild Coffin-Siris syndrome. </p>
|
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</span>
|
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</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
SOX11, ILE49ASN
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<br />
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|
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ClinVar: RCV003150873
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|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Lebanese boy with intellectual developmental disorder with microcephaly and without ocular malformations or hypogonadotropic hypogonadism (IDDMOH; 615866), Wakim et al. (2021) identified heterozygosity for a c.146T-A transition in the SOX11 gene, resulting in an ile49-to-asn (I49N) substitution at a conserved residue in the HMG domain. The mutation, which was identified by whole-exome sequencing and confirmed with Sanger sequencing, was found to be de novo. The mutation was not present in the gnomAD and 1000 Genomes databases. 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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND OCULAR MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
SOX11, GLY47SER
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|
<br />
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|
|
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|
|
ClinVar: RCV003150868
|
|
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and her 2 daughters with intellectual developmental disorder with microcephaly and ocular malformations (IDDMOH; 615866), Hanker et al. (2022) identified heterozygosity for a c.139G-A transition (c.139G-A, NM_003108.3) in the SOX11 gene, resulting in a gly47-to-ser (G47S) substitution. The mutation, which was identified by sequencing of a next-generation sequencing panel of 8 genes and confirmed by Sanger sequencing, segregated with disease in the family. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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|
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND OCULAR MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SOX11, ARG100PRO
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs1064794628,
|
|
|
|
|
|
gnomAD: rs1064794628,
|
|
|
|
|
|
ClinVar: RCV000481795, RCV003150820
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (patient 1) with intellectual developmental disorder with microcephaly and ocular malformations (IDDMOH; 615866), who also had bilateral cryptorchidism and micropenis, Alburaiky et al. (2022) identified de novo heterozygosity for a c.299G-C transversion (299G-C, NM_003108.3) in the SOX11 gene, resulting in an arg100-to-pro (R100P) substitution. The mutation was identified by trio whole-exome sequencing. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
SOX11, ASN76ASP
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|
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|
|
<br />
|
|
|
|
SNP: rs1665660543,
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|
|
|
|
|
|
|
ClinVar: RCV001246232, RCV003150825
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (patient 2) with intellectual developmental disorder with ocular malformations (IDDMOH; 615866), who had a head circumference on the 25th percentile at age 2 years, an underdeveloped scrotum, and palpable testes, Alburaiky et al. (2022) identified de novo heterozygosity for a c.226A-G transition (c.226A-G, NM_003108.4) in the SOX11 gene, resulting in an asn76-to-asp (N76D) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
SOX11, LYS274TER
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|
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<br />
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|
|
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|
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ClinVar: RCV003150872
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese girl (patient 2) with intellectual developmental disorder with ocular malformations (IDDMOH; 615866), Ding et al. (2022) identified de novo heterozygosity for a c.820A-T transversion (c.820A-T, NM_003108.4) in the SOX11 gene, resulting in a lys274-to-ter (K274X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was predicted to result in nonsense-mediated mRNA decay. (In the article by Ding et al. (2022), the mutation is given as K142X in the abstract, but as K274X in figure 2 and the text.) </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
SOX11, TYR113HIS
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<br />
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|
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|
|
ClinVar: RCV003150869
|
|
|
|
|
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</span>
|
|
</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese boy (patient 3) with intellectual developmental disorder and microcephaly (IDDMOH; 615866), Ding et al. (2022) identified a de novo heterozygous c.337T-C transition (c.337T-C, NM_003108.4) in the SOX11 gene, resulting in a tyr113-to-his (Y113H) substitution in the HMG domain. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. A luciferase assay using a reporter construct with a fragment of the GDF5 promoter, showed that SOX11 with the Y113H mutation resulted in decreased transcriptional activity compared to wildtype. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
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</h4>
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<div>
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<p />
|
|
</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">
|
|
Al-Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., and 44 others.
|
|
<strong>SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.</strong>
|
|
Genet. Med. 24: 1261-1273, 2022.
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|
[PubMed: 35341651]
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[Full Text: https://doi.org/10.1016/j.gim.2022.02.013]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Alburaiky, S., Taylor, J., O'Grady, G., Thomson, G., Perry, D., England, E. M., Yap, P.
|
|
<strong>Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.</strong>
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