4306 lines
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Entry
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- *300037 - GLYPICAN 3; GPC3
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- OMIM
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<div class="container hidden-print">
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<div id="mimAlertBanner">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300037</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/300037">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000147257;t=ENST00000370818" 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=2719" 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=300037" 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=ENSG00000147257;t=ENST00000370818" 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_001164617,NM_001164618,NM_001164619,NM_004484,XM_017029413" 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_004484" 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=300037" 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=02074&isoform_id=02074_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/GPC3" 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/556647,976205,1237179,1237181,1245417,1708022,2599578,4758462,23271174,62897081,62897091,83406491,85679794,85679797,85679799,119632174,119632175,119632176,148918526,194390362,257471006,257471008,257471010,259423705,390979764,1034673988,1145587731,2462628996" 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/P51654" 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=2719" 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=ENSG00000147257;t=ENST00000370818" 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=GPC3" 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=GPC3" 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+2719" 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/GPC3" 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:2719" 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/2719" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000370818.8&hgg_start=133535745&hgg_end=133985594&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:4451" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4451" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gpc3" 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=300037[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=300037[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/GPC3/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/ENSG00000147257" 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=GPC3" 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=GPC3" 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=GPC3" 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=GPC3&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/PA28832" 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:4451" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0263930.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104903" 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/GPC3#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:104903" 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/2719/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=2719" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031212-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:300037" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2719" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=GPC3&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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300037
|
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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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|
|
GLYPICAN 3; GPC3
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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>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
OCI-5, RAT, HOMOLOG OF
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GPC3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GPC3</a></em></strong>
|
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</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/691?start=-3&limit=10&highlight=691">Xq26.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:133535745-133985594&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:133,535,745-133,985,594</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=312870,194070" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/691?start=-3&limit=10&highlight=691">
|
|
Xq26.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Simpson-Golabi-Behmel syndrome, type 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/312870"> 312870 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>Members of the glypican family, including GPC3, are heparan sulfate proteoglycans that bind to the exocytoplasmic surface of the plasma membrane through a covalent glycosylphosphatidylinositol (GPI) linkage. The main function of membrane-attached glypicans is to regulate the signaling of WNTs, Hedgehogs, fibroblast growth factors, and bone morphogenetic proteins (<a href="#2" class="mim-tip-reference" title="Filmus, J., Capurro, M., Rast, J. <strong>Glypicans</strong> Genome Biol. 9: 224, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505598[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/10.1186/gb-2008-9-5-224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505598">Filmus et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505598" 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>To identify the molecular basis for Simpson-Golabi-Behmel syndrome (SGBS; see <a href="/entry/312870">312870</a>), also called Simpson dysmorphia syndrome (SDYS), <a href="#9" class="mim-tip-reference" title="Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. <strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong> Nature Genet. 12: 241-247, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589713</a>] [<a href="https://doi.org/10.1038/ng0396-241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589713">Pilia et al. (1996)</a> adopted a positional cloning approach, using an X/autosome translocation. They used the cell line GM0097, which was deposited in the NIGMS repository in 1974. This cell line originated from a woman diagnosed with Beckwith-Wiedemann syndrome (BWS; <a href="/entry/130650">130650</a>) and showed a karyotype with a de novo X;1 translocation. The karyotype suggested that she was affected by the X-linked SGBS rather than BWS, which is determined by a mutation on 11p. They mapped the breakpoint in an existing contig assembled across Xq26 and found a gene, called GPC3 by them, which was interrupted by this translocation. The gene was interrupted in another female patient with overgrowth and an X;16 translocation and exhibited deletions in 3 different SGBS families. The 2,130-bp cDNA encodes a deduced protein of 580 amino acids beginning 151 bp from the start of the sequence. GPC3 shares a number of features with the GPC1 gene (<a href="/entry/600395">600395</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Filmus, J., Church, J. G., Buick, R. N. <strong>Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.</strong> Molec. Cell Biol. 8: 4243-4249, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3185547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3185547</a>] [<a href="https://doi.org/10.1128/mcb.8.10.4243-4249.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3185547">Filmus et al., 1988</a> isolated rat Gpc3 as a transcript developmentally regulated in intestine, and <a href="#4" class="mim-tip-reference" title="Filmus, J., Shi, W., Wong, Z. M., Wong, M. J. <strong>Identification of a new membrane-bound heparan sulphate proteoglycan.</strong> Biochem. J. 311: 561-565, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487896</a>] [<a href="https://doi.org/10.1042/bj3110561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7487896">Filmus et al., 1995</a> showed that Gpc3, which they called Oci-5, is GPI-linked heparan sulfate proteoglycan. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3185547+7487896" 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="Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. <strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong> Nature Genet. 12: 241-247, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589713</a>] [<a href="https://doi.org/10.1038/ng0396-241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589713">Pilia et al. (1996)</a> determined that the GPC3 gene contains 8 exons and encompasses approximately 500 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#13" class="mim-tip-reference" title="Shen, T., Sonoda, G., Hamid, J., Li, M., Filmus, J., Buick, R. N., Testa, J. R. <strong>Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.</strong> Mammalian Genome 8: 72 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021160</a>] [<a href="https://doi.org/10.1007/s003359900357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9021160">Shen et al. (1997)</a> mapped the GPC3 gene to human Xq26 and rat Xq36. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021160" 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>Using DNA microarrays to compare gene expression patterns in normal human placenta with those in other tissues, <a href="#15" class="mim-tip-reference" title="Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O. <strong>Gene expression patterns in human placenta.</strong> Proc. Nat. Acad. Sci. 103: 5478-5483, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567644[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16567644">Sood et al. (2006)</a> found that several genes involved in growth and tissue remodeling were expressed at relatively higher levels in the villus sections of placenta compared with other tissues. These included GPC3, CDKN1C (<a href="/entry/600856">600856</a>), and IGF2 (<a href="/entry/147470">147470</a>). The GPC3 and CDKN1C genes are mutated in patients with Simpson-Golabi-Behmel syndrome and Beckwith-Wiedemann syndrome (<a href="/entry/130650">130650</a>), respectively, both fetal-placental overgrowth syndromes. In contrast, loss of IGF2 is associated with fetal growth restriction in mice. The relatively higher expression of genes that both promote and suppress growth suggested to <a href="#15" class="mim-tip-reference" title="Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O. <strong>Gene expression patterns in human placenta.</strong> Proc. Nat. Acad. Sci. 103: 5478-5483, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567644[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508035103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16567644">Sood et al. (2006)</a> tight and local regulation of the pathways that control placental development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16567644" 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="Capurro, M. I., Xu, P., Shi, W., Li, F., Jia, A., Filmus, J. <strong>Glypican-3 inhibits Hedgehog signaling during development by competing with Patched for Hedgehog binding.</strong> Dev. Cell 14: 700-711, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477453</a>] [<a href="https://doi.org/10.1016/j.devcel.2008.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18477453">Capurro et al. (2008)</a> found that GPC3 inhibited soluble hedgehog activity in the medium of SHH (<a href="/entry/600725">600725</a>)-expressing mouse embryonic fibroblasts and IHH (<a href="/entry/600726">600726</a>)-expressing human embryonic kidney cells. GPC3 interacted with SHH, but not with the SHH receptor Patched (PTCH1; <a href="/entry/601309">601309</a>), and it competed with Patched for SHH binding. Furthermore, GPC3 induced SHH endocytosis and degradation. The heparan sulfate chains of GPC3 were not required for its interaction with SHH, but membrane attachment via the GPI anchor was required. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Maurel, M., Dejeans, N., Taouji, S., Chevet, E., Grosset, C. F. <strong>MicroRNA-1291-mediated silencing of IRE1-alpha enhances glypican-3 expression.</strong> RNA 19: 778-788, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23598528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23598528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23598528[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/10.1261/rna.036483.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23598528">Maurel et al. (2013)</a> observed that expression of both microRNA-1291 (MIR1291; <a href="/entry/615487">615487</a>) and GPC3 was upregulated in hepatocellular carcinoma. They found that MIR1291 did not directly bind to GPC3 mRNA, but rather enhanced its stability by binding to and directing degradation of IRE1A (ERN1; <a href="/entry/604033">604033</a>), an endoribonuclease that functions in the endoplasmic reticulum unfolded protein response. In the absence of MIR1291, IRE1A bound a canonical site in the 3-prime UTR of GPC3 and cleaved the mRNA, causing its degradation via the unfolded protein response. Unlike most miRNAs, which typically bind complementary sequences in the 3-prime UTRs of target mRNAs, MIR1291 bound a complementary site in the 5-prime UTR of IRE1A to direct its degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23598528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a native mouse model of glioblastoma, <a href="#19" class="mim-tip-reference" title="Yu, K., Lin, C.-C. J., Hatcher, A., Lozzi, B., Kong, K., Huang-Hobbs, E., Cheng, Y.-T., Beechar, V. B., Zhu, W., Zhang, Y., Chen, F., Mills, G. B., Mohila, C. A., Creighton, C. J., Noebels, J. L., Scott, K. L., Deneen, B. <strong>PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis.</strong> Nature 578: 166-171, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31996845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31996845</a>] [<a href="https://doi.org/10.1038/s41586-020-1952-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31996845">Yu et al. (2020)</a> discover several driver variants of PIK3CA (<a href="/entry/171834">171834</a>). They further showed that secreted members of the glypican family are selectively expressed in these tumors, and that GPC3 drives gliomagenesis and hyperexcitability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31996845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the initial studies of <a href="#9" class="mim-tip-reference" title="Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. <strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong> Nature Genet. 12: 241-247, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589713</a>] [<a href="https://doi.org/10.1038/ng0396-241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589713">Pilia et al. (1996)</a> in which 6 of the 8 exons of the GPC3 gene were examined, deletions were identified in 3 of 6 patients with SGBS. This suggested that large scale deletions may be responsible for a considerable proportion of cases of Simpson-Golabi-Behmel syndrome. This might not be unexpected given the large region of genomic DNA covered by the GPC3 gene (approximately 500 kb) and the high proportion of deletions found in some other disorders involving large genes, for example, in the dystrophin gene (<a href="/entry/300377">300377</a>) in patients with Duchenne muscular dystrophy (<a href="/entry/310200">310200</a>). <a href="#6" class="mim-tip-reference" title="Lindsay, S., Ireland, M., O'Brien, O., Clayton-Smith, J., Hurst, J. A., Mann, J., Cole, T., Sampson, J., Slaney, S., Schlessinger, D., Burn, J., Pilia, G. <strong>Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.</strong> J. Med. Genet. 34: 480-483, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192268</a>] [<a href="https://doi.org/10.1136/jmg.34.6.480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9192268">Lindsay et al. (1997)</a> carried out studies to determine the proportion and type of deletions present in the GPC3 gene in 18 families with SGBS (approximately half of reported cases). Deletions were detected in only 5 families (1 of which had previously been reported). PCR analysis was carried out using primer pairs that amplified fragments from each of the 8 exons of the GPC3 gene and deletions were found in all exons of the gene except exon 3. The results suggested that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raised the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9192268+8589713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Simpson-Golabi-Behmel Syndrome, Type 1</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G. <strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong> Hum. Molec. Genet. 9: 1321-1328, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814714">Veugelers et al. (2000)</a> identified 1 SGBS patient with a deletion of GPC3 exon 7 (<a href="#0002">300037.0002</a>). Six SGBS patients showed point mutations in GPC3: 1 frameshift, 3 nonsense, and 1 splice mutation (<a href="#0004">300037.0004</a>) predicted a loss of function of the glypican-3 protein. One missense mutation, W296R (<a href="#0003">300037.0003</a>), altered a conserved amino acid found in all glypicans identified to that time. A GPC3 protein that reproduced this mutation was poorly processed and failed to increase the cell surface expression of heparan sulfate, suggesting that this missense mutation is also a loss-of-function mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Sakazume, S., Okamoto, N., Yamamoto, T., Kurosawa, K., Numabe, H., Ohashi, Y., Kako, Y., Nagai, T., Ohashi, H. <strong>GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.</strong> Am. J. Med. Genet. 143A: 1703-1707, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17603795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17603795</a>] [<a href="https://doi.org/10.1002/ajmg.a.31822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17603795">Sakazume et al. (2007)</a> identified mutations in the GPC3 gene in 7 Japanese boys with SGBS1. One of the boys had an affected younger brother. All the mutations were predicted to result in complete loss of function. Only 1 patient had a large deletion, and there were 5 nonsense and 1 frameshift mutations. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17603795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Wilms Tumor, Somatic</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="White, G. R. M., Kelsey, A. M., Varley, J. M., Birch, J. M. <strong>Somatic glypican 3 (GPC3) mutations in Wilms' tumour.</strong> Brit. J. Cancer 86: 1920-1922, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085187</a>] [<a href="https://doi.org/10.1038/sj.bjc.6600417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12085187">White et al. (2002)</a> identified 2 nonconservative single base changes in the GPC3 gene in Wilms tumor (<a href="/entry/194070">194070</a>) tissue only (<a href="#0006">300037.0006</a>-<a href="#0007">300037.0007</a>), implying a possible role of GPC3 in Wilms tumor development. They pointed out that Wilms tumor has been found in a number of patients with Simpson-Golabi-Behmel syndrome (<a href="#5" class="mim-tip-reference" title="Hughes-Benzie, R. M., Pilia, G., Xuan, J. Y., Hunter, A. G. W., Chen, E., Golabi, M., Hurst, J. A., Kobori, J., Marymee, K., Pagon, R. A., Punnett, H. H., Schelley, S., Tolmie, J. L., Wohlferd, M. M., Grossman, T., Schlessinger, D., MacKenzie, A. E. <strong>Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.</strong> Am. J. Med. Genet. 66: 227-234, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958336</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8958336">Hughes-Benzie et al., 1996</a>; <a href="#18" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. <strong>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.</strong> J. Med. Genet. 36: 57-58, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9950367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9950367</a>]" pmid="9950367">Xuan et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9950367+8958336+12085187" 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="#1" class="mim-tip-reference" title="Capurro, M. I., Xu, P., Shi, W., Li, F., Jia, A., Filmus, J. <strong>Glypican-3 inhibits Hedgehog signaling during development by competing with Patched for Hedgehog binding.</strong> Dev. Cell 14: 700-711, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477453</a>] [<a href="https://doi.org/10.1016/j.devcel.2008.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18477453">Capurro et al. (2008)</a> stated that Gpc3-null mouse embryos show significant overgrowth by embryonic day 12.5. They found that embryos between days 10.5 and 13.5 displayed increased hedgehog signaling, as measured by elevated Patched and Gli1 (<a href="/entry/165220">165220</a>) mRNA levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300037[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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<p><a href="#18" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. <strong>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.</strong> J. Med. Genet. 36: 57-58, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9950367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9950367</a>]" pmid="9950367">Xuan et al. (1999)</a> demonstrated a 13-bp deletion of nucleotides 391 to 403 in exon 2 of the GPC3 gene in a Dutch Canadian family with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; <a href="/entry/312870">312870</a>). This unique mutation was predicted to generate a frameshift with a premature stop codon at nucleotides 445 to 447, resulting in a truncated 79-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9950367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; <a href="/entry/312870">312870</a>), <a href="#16" class="mim-tip-reference" title="Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G. <strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong> Hum. Molec. Genet. 9: 1321-1328, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814714">Veugelers et al. (2000)</a> reported a deletion of exon 7 of the GPC3 gene. The aberrant GPC3 transcript had an altered reading frame, leading to a premature stop codon in exon 8. Since the predicted protein would lack consensus sites for heparan sulfate attachment and GPI anchorage, the authors concluded that the protein would be nonfunctional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012453" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012453" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012453</a>
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<p><a href="#16" class="mim-tip-reference" title="Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G. <strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong> Hum. Molec. Genet. 9: 1321-1328, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814714">Veugelers et al. (2000)</a> reported that each of 2 male cousins with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; <a href="/entry/312870">312870</a>) harbored a T-to-A transversion at nucleotide 1076 of the GPC3 gene, which resulted in substitution of arginine for tryptophan at position 296 (W296R). This is a residue which is conserved among 5 other mammalian glypicans, and is also found in C. elegans and Drosophila. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869025182 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025182;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=rs869025182" 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=rs869025182" 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=RCV000012454" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012454" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012454</a>
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<p>In an SGBS1 (<a href="/entry/312870">312870</a>) fibroblast cell line, <a href="#16" class="mim-tip-reference" title="Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G. <strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong> Hum. Molec. Genet. 9: 1321-1328, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814714">Veugelers et al. (2000)</a> found a G-to-T transversion in the GPC3 gene, which is predicted to substitute the splice donor site for exon 5 with an AGT codon, thus adding an aberrant arginine residue to the protein sequence, followed by a premature stop codon. Since GPC3 is not expressed in fibroblasts, the consequences of the mutation could not be confirmed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" 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 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
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GPC3, ARG199TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894855;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=rs104894855" 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=rs104894855" 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=RCV000012455 OR RCV000579176 OR RCV000692634" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012455, RCV000579176, RCV000692634" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012455...</a>
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<p>In a patient with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; <a href="/entry/312870">312870</a>), <a href="#16" class="mim-tip-reference" title="Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G. <strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong> Hum. Molec. Genet. 9: 1321-1328, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814714">Veugelers et al. (2000)</a> identified a C-to-T transition at nucleotide 785 in the GPC3 gene, resulting in substitution of a premature stop codon for arginine-199. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" 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 WILMS TUMOR, SOMATIC</strong>
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GPC3, 558C-T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122453119 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122453119;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=rs122453119" 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=rs122453119" 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=RCV000012456" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012456" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012456</a>
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<p><a href="#17" class="mim-tip-reference" title="White, G. R. M., Kelsey, A. M., Varley, J. M., Birch, J. M. <strong>Somatic glypican 3 (GPC3) mutations in Wilms' tumour.</strong> Brit. J. Cancer 86: 1920-1922, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085187</a>] [<a href="https://doi.org/10.1038/sj.bjc.6600417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12085187">White et al. (2002)</a> screened tumor and normal tissue from 41 male cases of Wilms tumor (<a href="/entry/194070">194070</a>) to determine the presence of sequence variants in the GPC3 gene. Two nonconservative single base changes were present in tumor tissue only, which implied a possible role of GPC3 in Wilms tumor development. One variant was a 558C-T transition in exon 3, changing a basic histidine (his) to an uncharged polar tyrosine (tyr). The other was a 1902G-A transition in exon 8, changing a nonpolar alanine (ala) to a polar threonine (thr) (<a href="#0007">300037.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12085187" 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 WILMS TUMOR, SOMATIC</strong>
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GPC3, 1902G-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122453120 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122453120;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=rs122453120" 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=rs122453120" 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=RCV000012457" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012457" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012457</a>
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<p><a href="#17" class="mim-tip-reference" title="White, G. R. M., Kelsey, A. M., Varley, J. M., Birch, J. M. <strong>Somatic glypican 3 (GPC3) mutations in Wilms' tumour.</strong> Brit. J. Cancer 86: 1920-1922, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085187</a>] [<a href="https://doi.org/10.1038/sj.bjc.6600417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12085187">White et al. (2002)</a> screened tumor and normal tissue from 41 male cases of Wilms tumor (<a href="/entry/194070">194070</a>) to determine the presence of sequence variants in the GPC3 gene. Two nonconservative single base changes were present in tumor tissue only, which implied a possible role of GPC3 in Wilms tumor development. One variant was a 558C-T transition in exon 3 (<a href="#0005">300037.0005</a>), changing a basic histidine (his) to an uncharged polar tyrosine (tyr). The other was a 1902G-A transition in exon 8, changing a nonpolar alanine (ala) to a polar threonine (thr). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12085187" 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 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
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GPC3, EX6DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012458" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012458" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012458</a>
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<p><a href="#10" class="mim-tip-reference" title="Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P. <strong>Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.</strong> Am. J. Med. Genet. 138A: 272-277, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158429</a>] [<a href="https://doi.org/10.1002/ajmg.a.30920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158429">Rodriguez-Criado et al. (2005)</a> described a family in which 4 males in 3 different sibships connected through carrier females had SGBS1 (<a href="/entry/312870">312870</a>) and deletion of exon 6 in the GPC3 gene. In addition to typical features of SGBS, some of them had novel findings, i.e., abnormal sella turcica and 6 lumbar vertebrae in 2 brothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</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">rs869025183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025183;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=rs869025183" 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=rs869025183" 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=RCV000012459" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012459" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012459</a>
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<p>In 2 patients from a family with SGBS1 (<a href="/entry/312870">312870</a>), <a href="#10" class="mim-tip-reference" title="Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P. <strong>Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.</strong> Am. J. Med. Genet. 138A: 272-277, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158429</a>] [<a href="https://doi.org/10.1002/ajmg.a.30920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158429">Rodriguez-Criado et al. (2005)</a> found a splice site mutation (IVS2+1G-A) in the GPC3 gene. The proband had coarse face, broad forehead, deep middle groove on the tongue, preauricular right ear pit, earlobe creases, epicanthus, macroglossia, and narrow palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158429" 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>.0010 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
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GPC3, ARG387TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs122453121 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs122453121;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=rs122453121" 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=rs122453121" 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=RCV000012460 OR RCV000653751 OR RCV000725910" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012460, RCV000653751, RCV000725910" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012460...</a>
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<p>In 2 brothers with SGBS1 (<a href="/entry/312870">312870</a>), <a href="#11" class="mim-tip-reference" title="Romanelli, V., Arroyo, I., Rodriguez, J. I., Magano, L., Arias, P., Incera, I., Gracia-Bouthelier, R., Lapunzina, P. <strong>Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (Letter)</strong> Clin. Genet. 72: 384-386, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850639</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00871.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17850639">Romanelli et al. (2007)</a> identified a hemizygous 1605C-T transition in exon 4 of the GPC3 gene, resulting in an arg387-to-ter (R387X) substitution. One boy had a severe phenotype with ambiguous genitalia, hydronephrosis, heart defects, and early death. The second boy had classic features of the disorder but survived. The mutation was not identified in the unaffected mother, suggesting germinal mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850639" 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>.0011 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
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GPC3, GLY556ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606850 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606850;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=rs267606850" 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=rs267606850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012461 OR RCV002313704 OR RCV005055511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012461, RCV002313704, RCV005055511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012461...</a>
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<p>In a 44-year-old man with SGBS1 (<a href="/entry/312870">312870</a>), <a href="#8" class="mim-tip-reference" title="Penisson-Besnier, I., Lebouvier, T., Moizard, M.-P., Ferre, M., Barth, M., Marc, G., Raynaud, M., Bonneau, D. <strong>Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.</strong> Am. J. Med. Genet. 146A: 464-467, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203194</a>] [<a href="https://doi.org/10.1002/ajmg.a.32154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203194">Penisson-Besnier et al. (2008)</a> identified a 1666G-A transition in exon 8 of the GPC3 gene, resulting in a gly556-to-arg (G556R) substitution. He developed carotid artery dissection associated with carotid redundancy. <a href="#14" class="mim-tip-reference" title="Shi, W., Filmus, J. <strong>A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. (Letter)</strong> Am. J. Med. Genet. 149A: 552-554, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215053</a>] [<a href="https://doi.org/10.1002/ajmg.a.32669" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19215053">Shi and Filmus (2009)</a> generated and transfected the G556R mutation into human 293T cells. The G556R mutation occurs in a region critical for cleavage of GPC3, which is necessary for GPC3 to be anchored to the plasma membrane via GPI linkage. Western blot analysis and immunostaining showed that the mutant G556R protein was not glycanated and was present in the cell lysate and the conditioned medium. The findings indicated that the mutant G556R protein cannot be attached to the GPI anchor, and is therefore released into the conditioned medium once it reaches the cell surface. Further functional studies showed that the G556R mutation resulted in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18203194+19215053" 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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Capurro, M. I., Xu, P., Shi, W., Li, F., Jia, A., Filmus, J.
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<strong>Glypican-3 inhibits Hedgehog signaling during development by competing with Patched for Hedgehog binding.</strong>
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Dev. Cell 14: 700-711, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477453" 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.devcel.2008.03.006" target="_blank">Full Text</a>]
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Filmus, J., Capurro, M., Rast, J.
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<strong>Glypicans</strong>
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Genome Biol. 9: 224, 2008. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505598[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=18505598" 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/10.1186/gb-2008-9-5-224" target="_blank">Full Text</a>]
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<a id="Filmus1988" class="mim-anchor"></a>
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Filmus, J., Church, J. G., Buick, R. N.
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<strong>Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.</strong>
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Molec. Cell Biol. 8: 4243-4249, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3185547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3185547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3185547" 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/10.1128/mcb.8.10.4243-4249.1988" target="_blank">Full Text</a>]
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Filmus, J., Shi, W., Wong, Z. M., Wong, M. J.
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<strong>Identification of a new membrane-bound heparan sulphate proteoglycan.</strong>
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Biochem. J. 311: 561-565, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487896" 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/10.1042/bj3110561" target="_blank">Full Text</a>]
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Hughes-Benzie, R. M., Pilia, G., Xuan, J. Y., Hunter, A. G. W., Chen, E., Golabi, M., Hurst, J. A., Kobori, J., Marymee, K., Pagon, R. A., Punnett, H. H., Schelley, S., Tolmie, J. L., Wohlferd, M. M., Grossman, T., Schlessinger, D., MacKenzie, A. E.
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<strong>Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.</strong>
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Am. J. Med. Genet. 66: 227-234, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8958336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8958336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8958336" 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/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U" target="_blank">Full Text</a>]
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Lindsay, S., Ireland, M., O'Brien, O., Clayton-Smith, J., Hurst, J. A., Mann, J., Cole, T., Sampson, J., Slaney, S., Schlessinger, D., Burn, J., Pilia, G.
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<strong>Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.</strong>
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J. Med. Genet. 34: 480-483, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9192268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.34.6.480" target="_blank">Full Text</a>]
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Maurel, M., Dejeans, N., Taouji, S., Chevet, E., Grosset, C. F.
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<strong>MicroRNA-1291-mediated silencing of IRE1-alpha enhances glypican-3 expression.</strong>
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RNA 19: 778-788, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23598528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23598528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23598528[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=23598528" 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/10.1261/rna.036483.112" target="_blank">Full Text</a>]
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<a id="Penisson-Besnier2008" class="mim-anchor"></a>
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Penisson-Besnier, I., Lebouvier, T., Moizard, M.-P., Ferre, M., Barth, M., Marc, G., Raynaud, M., Bonneau, D.
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<strong>Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.</strong>
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Am. J. Med. Genet. 146A: 464-467, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203194" 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.32154" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Pilia1996" class="mim-anchor"></a>
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Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D.
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<strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong>
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Nature Genet. 12: 241-247, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589713" 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/ng0396-241" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Rodriguez-Criado2005" class="mim-anchor"></a>
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<div class="">
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Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P.
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<strong>Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.</strong>
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Am. J. Med. Genet. 138A: 272-277, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158429" 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.30920" target="_blank">Full Text</a>]
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<a id="Romanelli2007" class="mim-anchor"></a>
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Romanelli, V., Arroyo, I., Rodriguez, J. I., Magano, L., Arias, P., Incera, I., Gracia-Bouthelier, R., Lapunzina, P.
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<strong>Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (Letter)</strong>
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Clin. Genet. 72: 384-386, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00871.x" target="_blank">Full Text</a>]
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<a id="Sakazume2007" class="mim-anchor"></a>
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<strong>GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.</strong>
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Am. J. Med. Genet. 143A: 1703-1707, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17603795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17603795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17603795" 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.31822" target="_blank">Full Text</a>]
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<a id="Shen1997" class="mim-anchor"></a>
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<strong>Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.</strong>
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Mammalian Genome 8: 72 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900357" target="_blank">Full Text</a>]
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<a id="Shi2009" class="mim-anchor"></a>
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Shi, W., Filmus, J.
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<strong>A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. (Letter)</strong>
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Am. J. Med. Genet. 149A: 552-554, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19215053" 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.32669" target="_blank">Full Text</a>]
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<a id="Sood2006" class="mim-anchor"></a>
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Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O.
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<strong>Gene expression patterns in human placenta.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567644[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=16567644" 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/10.1073/pnas.0508035103" target="_blank">Full Text</a>]
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<a id="Veugelers2000" class="mim-anchor"></a>
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Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G.
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<strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong>
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Hum. Molec. Genet. 9: 1321-1328, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.9.1321" target="_blank">Full Text</a>]
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White, G. R. M., Kelsey, A. M., Varley, J. M., Birch, J. M.
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<strong>Somatic glypican 3 (GPC3) mutations in Wilms' tumour.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12085187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12085187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12085187" 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/sj.bjc.6600417" target="_blank">Full Text</a>]
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Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E.
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<strong>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9950367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9950367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9950367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yu, K., Lin, C.-C. J., Hatcher, A., Lozzi, B., Kong, K., Huang-Hobbs, E., Cheng, Y.-T., Beechar, V. B., Zhu, W., Zhang, Y., Chen, F., Mills, G. B., Mohila, C. A., Creighton, C. J., Noebels, J. L., Scott, K. L., Deneen, B.
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<strong>PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis.</strong>
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Nature 578: 166-171, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31996845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31996845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31996845" 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/s41586-020-1952-2" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 06/29/2020
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Patricia A. Hartz - updated : 10/22/2013<br>Cassandra L. Kniffin - updated : 2/16/2010<br>Patricia A. Hartz - updated : 10/7/2008<br>Cassandra L. Kniffin - updated : 9/3/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Victor A. McKusick - updated : 12/1/2006<br>Anne M. Stumpf - updated : 8/4/2006<br>Ada Hamosh - updated : 8/4/2006<br>Victor A. McKusick - updated : 9/27/2002<br>George E. Tiller - updated : 7/3/2000<br>Victor A. McKusick - updated : 9/20/1999<br>Michael J. Wright - updated : 2/12/1999<br>Victor A. McKusick - updated : 8/25/1997<br>Victor A. McKusick - updated : 2/7/1997
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Victor A. McKusick : 2/29/1996
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carol : 02/05/2016<br>mgross : 10/22/2013<br>mgross : 1/9/2012<br>wwang : 2/19/2010<br>ckniffin : 2/16/2010<br>mgross : 10/8/2008<br>terry : 10/7/2008<br>wwang : 9/24/2008<br>wwang : 9/24/2008<br>wwang : 9/24/2008<br>ckniffin : 9/3/2008<br>wwang : 1/28/2008<br>ckniffin : 1/8/2008<br>ckniffin : 1/8/2008<br>ckniffin : 1/8/2008<br>carol : 1/30/2007<br>alopez : 12/12/2006<br>terry : 12/1/2006<br>carol : 11/29/2006<br>ckniffin : 11/22/2006<br>alopez : 8/4/2006<br>alopez : 8/4/2006<br>tkritzer : 9/17/2003<br>carol : 11/12/2002<br>carol : 10/1/2002<br>carol : 10/1/2002<br>tkritzer : 9/27/2002<br>tkritzer : 9/27/2002<br>cwells : 3/13/2002<br>alopez : 7/3/2000<br>carol : 9/30/1999<br>terry : 9/20/1999<br>mgross : 3/2/1999<br>terry : 2/12/1999<br>dkim : 7/2/1998<br>jenny : 11/12/1997<br>jenny : 8/28/1997<br>terry : 8/25/1997<br>joanna : 2/28/1997<br>terry : 2/7/1997<br>terry : 5/24/1996<br>terry : 3/29/1996<br>mark : 2/29/1996<br>mark : 2/29/1996
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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 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> 300037
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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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GLYPICAN 3; GPC3
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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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<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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OCI-5, RAT, HOMOLOG OF
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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: GPC3</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: Xq26.2
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Genomic coordinates <span class="small">(GRCh38)</span> : X:133,535,745-133,985,594 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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Xq26.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Simpson-Golabi-Behmel syndrome, type 1
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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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312870
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Wilms tumor, somatic
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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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194070
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Members of the glypican family, including GPC3, are heparan sulfate proteoglycans that bind to the exocytoplasmic surface of the plasma membrane through a covalent glycosylphosphatidylinositol (GPI) linkage. The main function of membrane-attached glypicans is to regulate the signaling of WNTs, Hedgehogs, fibroblast growth factors, and bone morphogenetic proteins (Filmus et al., 2008). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To identify the molecular basis for Simpson-Golabi-Behmel syndrome (SGBS; see 312870), also called Simpson dysmorphia syndrome (SDYS), Pilia et al. (1996) adopted a positional cloning approach, using an X/autosome translocation. They used the cell line GM0097, which was deposited in the NIGMS repository in 1974. This cell line originated from a woman diagnosed with Beckwith-Wiedemann syndrome (BWS; 130650) and showed a karyotype with a de novo X;1 translocation. The karyotype suggested that she was affected by the X-linked SGBS rather than BWS, which is determined by a mutation on 11p. They mapped the breakpoint in an existing contig assembled across Xq26 and found a gene, called GPC3 by them, which was interrupted by this translocation. The gene was interrupted in another female patient with overgrowth and an X;16 translocation and exhibited deletions in 3 different SGBS families. The 2,130-bp cDNA encodes a deduced protein of 580 amino acids beginning 151 bp from the start of the sequence. GPC3 shares a number of features with the GPC1 gene (600395). </p><p>Filmus et al., 1988 isolated rat Gpc3 as a transcript developmentally regulated in intestine, and Filmus et al., 1995 showed that Gpc3, which they called Oci-5, is GPI-linked heparan sulfate proteoglycan. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pilia et al. (1996) determined that the GPC3 gene contains 8 exons and encompasses approximately 500 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By fluorescence in situ hybridization, Shen et al. (1997) mapped the GPC3 gene to human Xq26 and rat Xq36. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Using DNA microarrays to compare gene expression patterns in normal human placenta with those in other tissues, Sood et al. (2006) found that several genes involved in growth and tissue remodeling were expressed at relatively higher levels in the villus sections of placenta compared with other tissues. These included GPC3, CDKN1C (600856), and IGF2 (147470). The GPC3 and CDKN1C genes are mutated in patients with Simpson-Golabi-Behmel syndrome and Beckwith-Wiedemann syndrome (130650), respectively, both fetal-placental overgrowth syndromes. In contrast, loss of IGF2 is associated with fetal growth restriction in mice. The relatively higher expression of genes that both promote and suppress growth suggested to Sood et al. (2006) tight and local regulation of the pathways that control placental development. </p><p>Capurro et al. (2008) found that GPC3 inhibited soluble hedgehog activity in the medium of SHH (600725)-expressing mouse embryonic fibroblasts and IHH (600726)-expressing human embryonic kidney cells. GPC3 interacted with SHH, but not with the SHH receptor Patched (PTCH1; 601309), and it competed with Patched for SHH binding. Furthermore, GPC3 induced SHH endocytosis and degradation. The heparan sulfate chains of GPC3 were not required for its interaction with SHH, but membrane attachment via the GPI anchor was required. </p><p>Maurel et al. (2013) observed that expression of both microRNA-1291 (MIR1291; 615487) and GPC3 was upregulated in hepatocellular carcinoma. They found that MIR1291 did not directly bind to GPC3 mRNA, but rather enhanced its stability by binding to and directing degradation of IRE1A (ERN1; 604033), an endoribonuclease that functions in the endoplasmic reticulum unfolded protein response. In the absence of MIR1291, IRE1A bound a canonical site in the 3-prime UTR of GPC3 and cleaved the mRNA, causing its degradation via the unfolded protein response. Unlike most miRNAs, which typically bind complementary sequences in the 3-prime UTRs of target mRNAs, MIR1291 bound a complementary site in the 5-prime UTR of IRE1A to direct its degradation. </p><p>Using a native mouse model of glioblastoma, Yu et al. (2020) discover several driver variants of PIK3CA (171834). They further showed that secreted members of the glypican family are selectively expressed in these tumors, and that GPC3 drives gliomagenesis and hyperexcitability. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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|
|
|
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|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Cytogenetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>In the initial studies of Pilia et al. (1996) in which 6 of the 8 exons of the GPC3 gene were examined, deletions were identified in 3 of 6 patients with SGBS. This suggested that large scale deletions may be responsible for a considerable proportion of cases of Simpson-Golabi-Behmel syndrome. This might not be unexpected given the large region of genomic DNA covered by the GPC3 gene (approximately 500 kb) and the high proportion of deletions found in some other disorders involving large genes, for example, in the dystrophin gene (300377) in patients with Duchenne muscular dystrophy (310200). Lindsay et al. (1997) carried out studies to determine the proportion and type of deletions present in the GPC3 gene in 18 families with SGBS (approximately half of reported cases). Deletions were detected in only 5 families (1 of which had previously been reported). PCR analysis was carried out using primer pairs that amplified fragments from each of the 8 exons of the GPC3 gene and deletions were found in all exons of the gene except exon 3. The results suggested that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raised the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders. </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
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|
|
<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p><strong><em>Simpson-Golabi-Behmel Syndrome, Type 1</em></strong></p><p>
|
|
Veugelers et al. (2000) identified 1 SGBS patient with a deletion of GPC3 exon 7 (300037.0002). Six SGBS patients showed point mutations in GPC3: 1 frameshift, 3 nonsense, and 1 splice mutation (300037.0004) predicted a loss of function of the glypican-3 protein. One missense mutation, W296R (300037.0003), altered a conserved amino acid found in all glypicans identified to that time. A GPC3 protein that reproduced this mutation was poorly processed and failed to increase the cell surface expression of heparan sulfate, suggesting that this missense mutation is also a loss-of-function mutation. </p><p>Sakazume et al. (2007) identified mutations in the GPC3 gene in 7 Japanese boys with SGBS1. One of the boys had an affected younger brother. All the mutations were predicted to result in complete loss of function. Only 1 patient had a large deletion, and there were 5 nonsense and 1 frameshift mutations. There were no apparent genotype/phenotype correlations. </p><p><strong><em>Wilms Tumor, Somatic</em></strong></p><p>
|
|
White et al. (2002) identified 2 nonconservative single base changes in the GPC3 gene in Wilms tumor (194070) tissue only (300037.0006-300037.0007), implying a possible role of GPC3 in Wilms tumor development. They pointed out that Wilms tumor has been found in a number of patients with Simpson-Golabi-Behmel syndrome (Hughes-Benzie et al., 1996; Xuan et al., 1999). </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Capurro et al. (2008) stated that Gpc3-null mouse embryos show significant overgrowth by embryonic day 12.5. They found that embryos between days 10.5 and 13.5 displayed increased hedgehog signaling, as measured by elevated Patched and Gli1 (165220) mRNA levels. </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>11 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">
|
|
<strong>.0001 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GPC3, 13-BP DEL, NT391
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<br />
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SNP: rs869025181,
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ClinVar: RCV000012451
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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>Xuan et al. (1999) demonstrated a 13-bp deletion of nucleotides 391 to 403 in exon 2 of the GPC3 gene in a Dutch Canadian family with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; 312870). This unique mutation was predicted to generate a frameshift with a premature stop codon at nucleotides 445 to 447, resulting in a truncated 79-amino acid protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GPC3, EX7DEL
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<br />
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ClinVar: RCV000012452
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; 312870), Veugelers et al. (2000) reported a deletion of exon 7 of the GPC3 gene. The aberrant GPC3 transcript had an altered reading frame, leading to a premature stop codon in exon 8. Since the predicted protein would lack consensus sites for heparan sulfate attachment and GPI anchorage, the authors concluded that the protein would be nonfunctional. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GPC3, TRP296ARG
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<br />
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SNP: rs104894854,
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ClinVar: RCV000012453
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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>Veugelers et al. (2000) reported that each of 2 male cousins with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; 312870) harbored a T-to-A transversion at nucleotide 1076 of the GPC3 gene, which resulted in substitution of arginine for tryptophan at position 296 (W296R). This is a residue which is conserved among 5 other mammalian glypicans, and is also found in C. elegans and Drosophila. </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>.0004 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GPC3, IVS5DS, G-T, +1
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<br />
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SNP: rs869025182,
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|
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ClinVar: RCV000012454
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In an SGBS1 (312870) fibroblast cell line, Veugelers et al. (2000) found a G-to-T transversion in the GPC3 gene, which is predicted to substitute the splice donor site for exon 5 with an AGT codon, thus adding an aberrant arginine residue to the protein sequence, followed by a premature stop codon. Since GPC3 is not expressed in fibroblasts, the consequences of the mutation could not be confirmed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GPC3, ARG199TER
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<br />
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SNP: rs104894855,
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|
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ClinVar: RCV000012455, RCV000579176, RCV000692634
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|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with Simpson-Golabi-Behmel syndrome type 1 (SGBS1; 312870), Veugelers et al. (2000) identified a C-to-T transition at nucleotide 785 in the GPC3 gene, resulting in substitution of a premature stop codon for arginine-199. </p>
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</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 WILMS TUMOR, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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GPC3, 558C-T
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<br />
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SNP: rs122453119,
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|
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|
|
ClinVar: RCV000012456
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>White et al. (2002) screened tumor and normal tissue from 41 male cases of Wilms tumor (194070) to determine the presence of sequence variants in the GPC3 gene. Two nonconservative single base changes were present in tumor tissue only, which implied a possible role of GPC3 in Wilms tumor development. One variant was a 558C-T transition in exon 3, changing a basic histidine (his) to an uncharged polar tyrosine (tyr). The other was a 1902G-A transition in exon 8, changing a nonpolar alanine (ala) to a polar threonine (thr) (300037.0007). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 WILMS TUMOR, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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GPC3, 1902G-A
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<br />
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SNP: rs122453120,
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|
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ClinVar: RCV000012457
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|
|
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>White et al. (2002) screened tumor and normal tissue from 41 male cases of Wilms tumor (194070) to determine the presence of sequence variants in the GPC3 gene. Two nonconservative single base changes were present in tumor tissue only, which implied a possible role of GPC3 in Wilms tumor development. One variant was a 558C-T transition in exon 3 (300037.0005), changing a basic histidine (his) to an uncharged polar tyrosine (tyr). The other was a 1902G-A transition in exon 8, changing a nonpolar alanine (ala) to a polar threonine (thr). </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPC3, EX6DEL
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<br />
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ClinVar: RCV000012458
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Rodriguez-Criado et al. (2005) described a family in which 4 males in 3 different sibships connected through carrier females had SGBS1 (312870) and deletion of exon 6 in the GPC3 gene. In addition to typical features of SGBS, some of them had novel findings, i.e., abnormal sella turcica and 6 lumbar vertebrae in 2 brothers. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPC3, IVS2DS, G-A, +1
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs869025183,
|
|
|
|
|
|
|
|
ClinVar: RCV000012459
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients from a family with SGBS1 (312870), Rodriguez-Criado et al. (2005) found a splice site mutation (IVS2+1G-A) in the GPC3 gene. The proband had coarse face, broad forehead, deep middle groove on the tongue, preauricular right ear pit, earlobe creases, epicanthus, macroglossia, and narrow palate. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPC3, ARG387TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs122453121,
|
|
|
|
|
|
|
|
ClinVar: RCV000012460, RCV000653751, RCV000725910
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with SGBS1 (312870), Romanelli et al. (2007) identified a hemizygous 1605C-T transition in exon 4 of the GPC3 gene, resulting in an arg387-to-ter (R387X) substitution. One boy had a severe phenotype with ambiguous genitalia, hydronephrosis, heart defects, and early death. The second boy had classic features of the disorder but survived. The mutation was not identified in the unaffected mother, suggesting germinal mosaicism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPC3, GLY556ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606850,
|
|
|
|
|
|
|
|
ClinVar: RCV000012461, RCV002313704, RCV005055511
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 44-year-old man with SGBS1 (312870), Penisson-Besnier et al. (2008) identified a 1666G-A transition in exon 8 of the GPC3 gene, resulting in a gly556-to-arg (G556R) substitution. He developed carotid artery dissection associated with carotid redundancy. Shi and Filmus (2009) generated and transfected the G556R mutation into human 293T cells. The G556R mutation occurs in a region critical for cleavage of GPC3, which is necessary for GPC3 to be anchored to the plasma membrane via GPI linkage. Western blot analysis and immunostaining showed that the mutant G556R protein was not glycanated and was present in the cell lysate and the conditioned medium. The findings indicated that the mutant G556R protein cannot be attached to the GPI anchor, and is therefore released into the conditioned medium once it reaches the cell surface. Further functional studies showed that the G556R mutation resulted in a loss of function. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Capurro, M. I., Xu, P., Shi, W., Li, F., Jia, A., Filmus, J.
|
|
<strong>Glypican-3 inhibits Hedgehog signaling during development by competing with Patched for Hedgehog binding.</strong>
|
|
Dev. Cell 14: 700-711, 2008.
|
|
|
|
|
|
[PubMed: 18477453]
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|
|
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|
|
[Full Text: https://doi.org/10.1016/j.devcel.2008.03.006]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Filmus, J., Capurro, M., Rast, J.
|
|
<strong>Glypicans</strong>
|
|
Genome Biol. 9: 224, 2008. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 18505598]
|
|
|
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|
|
[Full Text: https://doi.org/10.1186/gb-2008-9-5-224]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Filmus, J., Church, J. G., Buick, R. N.
|
|
<strong>Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.</strong>
|
|
Molec. Cell Biol. 8: 4243-4249, 1988.
|
|
|
|
|
|
[PubMed: 3185547]
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|
[Full Text: https://doi.org/10.1128/mcb.8.10.4243-4249.1988]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Filmus, J., Shi, W., Wong, Z. M., Wong, M. J.
|
|
<strong>Identification of a new membrane-bound heparan sulphate proteoglycan.</strong>
|
|
Biochem. J. 311: 561-565, 1995.
|
|
|
|
|
|
[PubMed: 7487896]
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|
|
[Full Text: https://doi.org/10.1042/bj3110561]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Hughes-Benzie, R. M., Pilia, G., Xuan, J. Y., Hunter, A. G. W., Chen, E., Golabi, M., Hurst, J. A., Kobori, J., Marymee, K., Pagon, R. A., Punnett, H. H., Schelley, S., Tolmie, J. L., Wohlferd, M. M., Grossman, T., Schlessinger, D., MacKenzie, A. E.
|
|
<strong>Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.</strong>
|
|
Am. J. Med. Genet. 66: 227-234, 1996.
|
|
|
|
|
|
[PubMed: 8958336]
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|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lindsay, S., Ireland, M., O'Brien, O., Clayton-Smith, J., Hurst, J. A., Mann, J., Cole, T., Sampson, J., Slaney, S., Schlessinger, D., Burn, J., Pilia, G.
|
|
<strong>Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.</strong>
|
|
J. Med. Genet. 34: 480-483, 1997.
|
|
|
|
|
|
[PubMed: 9192268]
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|
|
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|
|
[Full Text: https://doi.org/10.1136/jmg.34.6.480]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Maurel, M., Dejeans, N., Taouji, S., Chevet, E., Grosset, C. F.
|
|
<strong>MicroRNA-1291-mediated silencing of IRE1-alpha enhances glypican-3 expression.</strong>
|
|
RNA 19: 778-788, 2013.
|
|
|
|
|
|
[PubMed: 23598528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1261/rna.036483.112]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Penisson-Besnier, I., Lebouvier, T., Moizard, M.-P., Ferre, M., Barth, M., Marc, G., Raynaud, M., Bonneau, D.
|
|
<strong>Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.</strong>
|
|
Am. J. Med. Genet. 146A: 464-467, 2008.
|
|
|
|
|
|
[PubMed: 18203194]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32154]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D.
|
|
<strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong>
|
|
Nature Genet. 12: 241-247, 1996.
|
|
|
|
|
|
[PubMed: 8589713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0396-241]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P.
|
|
<strong>Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.</strong>
|
|
Am. J. Med. Genet. 138A: 272-277, 2005.
|
|
|
|
|
|
[PubMed: 16158429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30920]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Romanelli, V., Arroyo, I., Rodriguez, J. I., Magano, L., Arias, P., Incera, I., Gracia-Bouthelier, R., Lapunzina, P.
|
|
<strong>Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (Letter)</strong>
|
|
Clin. Genet. 72: 384-386, 2007.
|
|
|
|
|
|
[PubMed: 17850639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00871.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sakazume, S., Okamoto, N., Yamamoto, T., Kurosawa, K., Numabe, H., Ohashi, Y., Kako, Y., Nagai, T., Ohashi, H.
|
|
<strong>GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.</strong>
|
|
Am. J. Med. Genet. 143A: 1703-1707, 2007.
|
|
|
|
|
|
[PubMed: 17603795]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31822]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shen, T., Sonoda, G., Hamid, J., Li, M., Filmus, J., Buick, R. N., Testa, J. R.
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Shi, W., Filmus, J.
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<strong>A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. (Letter)</strong>
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Sood, R., Zehnder, J. L., Druzin, M. L., Brown, P. O.
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<strong>Gene expression patterns in human placenta.</strong>
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Veugelers, M., De Cat, B., Muyldermans, S. Y., Reekmans, G., Delande, N., Frints, S., Legius, E., Fryns, J.-P., Schrander-Stumpel, C., Weidle, B., Magdalena, N., David, G.
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<strong>Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.</strong>
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Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E.
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<strong>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.</strong>
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Yu, K., Lin, C.-C. J., Hatcher, A., Lozzi, B., Kong, K., Huang-Hobbs, E., Cheng, Y.-T., Beechar, V. B., Zhu, W., Zhang, Y., Chen, F., Mills, G. B., Mohila, C. A., Creighton, C. J., Noebels, J. L., Scott, K. L., Deneen, B.
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