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Entry
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- *173410 - PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*173410</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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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 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/173410">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div 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=ENSG00000113721;t=ENST00000261799" 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=5159" 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=173410" 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=ENSG00000113721;t=ENST00000261799" 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_001355016,NM_001355017,NM_002609,NR_149150" 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_002609" 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=173410" 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=01423&isoform_id=01423_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/PDGFRB" 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/129890,189730,189732,532593,2107947,4505683,21594833,62088894,119582150,119582151,119582152,158259647,194318486,1079701601,1239396133,1239396136" 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/P09619" 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=5159" 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=ENSG00000113721;t=ENST00000261799" 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=PDGFRB" 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=PDGFRB" 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+5159" 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/PDGFRB" 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:5159" 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/5159" 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=chr5&hgg_gene=ENST00000261799.9&hgg_start=150113839&hgg_end=150155845&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=173410[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=173410[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/PDGFRB/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/ENSG00000113721" 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=PDGFRB" 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=PDGFRB" 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=PDGFRB" 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=PDGFRB&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/PA33148" 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:8804" 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/FBgn0003733.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:97531" 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/PDGFRB#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:97531" 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/5159/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=5159" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
|
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<div id="mimWormbaseGeneFold" class="collapse">
|
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002211;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002211 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011168;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011168 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030805-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:5159" 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=PDGFRB&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>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1172898008, 776417008<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
173410
|
|
</span>
|
|
</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>
|
|
<h3>
|
|
<span class="mim-font">
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PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB
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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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PDGFR<br />
|
|
PDGFR1
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PDGFRB/ETV6 FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
PDGFRB/D10S170 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/RABPT5 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/HIP1 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/MYO18A FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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</div>
|
|
<div>
|
|
<br />
|
|
</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=PDGFRB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PDGFRB</a></em></strong>
|
|
</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/5/662?start=-3&limit=10&highlight=662">5q32</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:150113839-150155845&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'})">5:150,113,839-150,155,845</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<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=621091,615007,616592,228550,601812" 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="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/662?start=-3&limit=10&highlight=662">
|
|
5q32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Ocular pterygium-digital keloid dysplasia syndrome
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/621091"> 621091 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>The PDGFRB gene encodes platelet-derived growth factor receptor-beta, a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family (see, e.g., PDFGB, <a href="/entry/190040">190040</a>). Activation of the receptor leads to activation of downstream signaling pathways, inducing cellular proliferation, differentiation, survival, and migration (summary by <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255827" 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>See also PDGFRA (<a href="/entry/173490">173490</a>).</p>
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<p>Stimulation of cell proliferation of the receptor for PDGF (<a href="/entry/190040">190040</a>) has been implicated in atherogenesis and in cell transformation by the SIS oncogene. <a href="#12" class="mim-tip-reference" title="Escobedo, J. A., Fried, V. A., Daniel, T. O., Williams, L. T. <strong>Primary structure of the platelet-derived growth factor. (Abstract)</strong> Clin. Res. 34: 544A, 1986."None>Escobedo et al. (1986)</a> sequenced the receptor and cloned its gene.</p><p><a href="#18" class="mim-tip-reference" title="Gronwald, R. G. K., Grant, F. J., Haldeman, B. A., Hart, C. E., O'Hara, P. J., Hagen, F. S., Ross, R., Bowen-Pope, D. F., Murray, M. J. <strong>Cloning and expression of a cDNA coding for the human platelet-derived growth factor receptor: evidence for more than one receptor class.</strong> Proc. Nat. Acad. Sci. 85: 3435-3439, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835772</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2835772">Gronwald et al. (1988)</a> cloned a cDNA coding for human PDGFR and studied its expression. The cDNA contained an open reading frame that coded for a protein of 1,106 amino acids. In transfectants, <a href="#18" class="mim-tip-reference" title="Gronwald, R. G. K., Grant, F. J., Haldeman, B. A., Hart, C. E., O'Hara, P. J., Hagen, F. S., Ross, R., Bowen-Pope, D. F., Murray, M. J. <strong>Cloning and expression of a cDNA coding for the human platelet-derived growth factor receptor: evidence for more than one receptor class.</strong> Proc. Nat. Acad. Sci. 85: 3435-3439, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835772</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2835772">Gronwald et al. (1988)</a> found that the PDGFR clone expressed a high affinity receptor specific for the BB isoform of PDGF, i.e., PDGF dimers composed of 2 B chains. There may be a separate class of PDGF receptor that binds both the homodimers and the heterodimer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835772" 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="#9" class="mim-tip-reference" title="Claesson-Welsh, L., Eriksson, A., Moren, A., Severinsson, L., Ek, B., Ostman, A., Betsholtz, C., Heldin, C.-H. <strong>cDNA cloning and expression of a human platelet-derived growth factor (PDGF) receptor specific for B-chain-containing PDGF molecules.</strong> Molec. Cell. Biol. 8: 3476-3486, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2850496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2850496</a>] [<a href="https://doi.org/10.1128/mcb.8.8.3476-3486.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2850496">Claesson-Welsh et al. (1988)</a> determined the structure of the human PDGF receptor as deduced from a full-length cDNA clone. The receptor expressed in Chinese hamster ovary cells was found to bind specifically to B-chain-containing PDGF molecules (<a href="/entry/190040">190040</a>). With the description of a second PDGF receptor (<a href="/entry/173490">173490</a>), it is necessary to use the symbol PDGFR1. <a href="#30" class="mim-tip-reference" title="Matsui, T., Heidaran, M., Miki, T., Popescu, N., La Rochelle, W., Kraus, M., Pierce, J., Aaronson, S. <strong>Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes.</strong> Science 243: 800-804, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2536956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2536956</a>] [<a href="https://doi.org/10.1126/science.2536956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2536956">Matsui et al. (1989)</a> designated the second type of PDGFR as type alpha because PDGF binding was blocked by AA as well as BB isoforms of the ligand; the product of the earlier cloned PDGF receptor was termed type beta. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2850496+2536956" 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>The PDFGRB gene is expressed in pericytes in the developing vascular walls of mouse brain (<a href="#27" class="mim-tip-reference" title="Lindahl, P., Johansson, B. R., Leveen, P., Betsholtz, C. <strong>Pericyte loss and microaneurysm formation in PDGF-B-deficient mice.</strong> Science 277: 242-245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9211853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9211853</a>] [<a href="https://doi.org/10.1126/science.277.5323.242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9211853">Lindahl et al., 1997</a>). It is expressed particularly in the basal ganglia and dentate nucleus of the cerebellum (summary by <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9211853+23255827" 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 Southern blotting of DNA from somatic cell hybrids and by in situ hybridization, <a href="#13" class="mim-tip-reference" title="Francke, U., Yang-Feng, T. L., Brissenden, J. E., Ullrich, A. <strong>Chromosomal mapping of genes involved in growth control.</strong> Cold Spring Harbor Symp. Quant. Biol. 51: 855-866, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3107886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3107886</a>] [<a href="https://doi.org/10.1101/sqb.1986.051.01.099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3107886">Francke et al. (1986)</a> mapped the gene for PDGFR to 5q31-q32. The gene is flanked proximally by GMCSF (<a href="/entry/138960">138960</a>) and distally by FMS (<a href="/entry/164770">164770</a>). All 3 loci may be implicated in the 5q- syndrome (<a href="/entry/153550">153550</a>). See also <a href="#44" class="mim-tip-reference" title="Yarden, Y., Escobedo, J. A., Kuang, W.-J., Yang-Feng, T. L., Daniel, T. O., Tremble, P. M., Chen, E. Y., Ando, M. E., Harkins, R. N., Francke, U., Fried, V. A., Ullrich, A., Williams, L. T. <strong>Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors.</strong> Nature 323: 226-232, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3020426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3020426</a>] [<a href="https://doi.org/10.1038/323226a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3020426">Yarden et al. (1986)</a>. <a href="#7" class="mim-tip-reference" title="Buchberg, A. M., Jenkins, N. A., Copeland, N. G. <strong>Localization of the murine macrophage colony-stimulating factor gene to chromosome 3 using interspecific backcross analysis.</strong> Genomics 5: 363-367, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2676841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2676841</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90071-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2676841">Buchberg et al. (1989)</a> cited unpublished observations indicating that Pdgfr is located on mouse chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3107886+3020426+2676841" 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>The <a href="#41" class="mim-tip-reference" title="Treacher Collins Syndrome Collaborative Group. <strong>Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.</strong> Nature Genet. 12: 130-136, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8563749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8563749</a>] [<a href="https://doi.org/10.1038/ng0296-130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8563749">Treacher Collins Syndrome Collaborative Group (1996)</a> determined that the PDGFRB gene is located within approximately 900 kb proximal of the TCOF1 gene (<a href="/entry/606847">606847</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8563749" 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>The PDGFRB gene and the CSF1R gene (<a href="/entry/164770">164770</a>) encode proteins that belong to the same subfamily of receptor tyrosine kinases (<a href="#45" class="mim-tip-reference" title="Yarden, Y., Ullrich, A. <strong>Growth factor receptor tyrosine kinases.</strong> Ann. Rev. Biochem. 57: 443-478, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3052279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3052279</a>] [<a href="https://doi.org/10.1146/annurev.bi.57.070188.002303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3052279">Yarden and Ullrich, 1988</a>). Both genes are located on 5q and are linked physically in a head-to-tail array with less than 500 bp between the polyadenylation signal of the PDGFRB gene and the transcription start point of the CSF1R gene (<a href="#36" class="mim-tip-reference" title="Roberts, W. M., Look, A. T., Roussel, M. F., Sherr, C. J. <strong>Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes.</strong> Cell 55: 655-661, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2846185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2846185</a>] [<a href="https://doi.org/10.1016/0092-8674(88)90224-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2846185">Roberts et al., 1988</a>). (This finding is inconsistent with the conclusion that the PDGFRB gene is located at 5q31-q32 and the presumed assignment of CSF1R to 5q33.2-q33.3. One of the assignments must be in error.) Close linkage of the 2 genes has been demonstrated also in the mouse and <a href="#21" class="mim-tip-reference" title="How, G.-F., Venkatesh, B., Brenner, S. <strong>Conserved linkage between the puffer fish (Fugu rubripes) and human genes for platelet-derived growth factor receptor and macrophage colony-stimulating factor receptor.</strong> Genome Res. 6: 1185-1191, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8973913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8973913</a>] [<a href="https://doi.org/10.1101/gr.6.12.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8973913">How et al. (1996)</a> demonstrated that in the pufferfish (Fugu rubripes) the 2 genes are linked tandemly in a head-to-tail array with 2.2 kb of intragenic sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3052279+2846185+8973913" 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="#19" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 1/8/2013."None>Gross (2013)</a> mapped the PDGFRB gene to chromosome 5q32 based on an alignment of the PDGFRB sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC032224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC032224</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#11" class="mim-tip-reference" title="Di Pasquale, G., Davidson, B. L., Stein, C. S., Martins, I., Scudiero, D., Monks, A., Chiorini, J. A. <strong>Identification of PDGFR as a receptor for AAV-5 transduction.</strong> Nature Med. 9: 1306-1312, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502277</a>] [<a href="https://doi.org/10.1038/nm929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14502277">Di Pasquale et al. (2003)</a> characterized 43 cell lines as permissive or nonpermissive for adeno-associated virus type 5 (AAV-5) transduction and compared the gene expression profiles derived from cDNA microarray analyses of those cell lines. A statistically significant correlation was observed between expression of PDGFR-alpha (<a href="/entry/173490">173490</a>) and AAV-5 transduction. Subsequent experiments confirmed the role of PDGFR-alpha and PDGFR-beta as receptors for AAV-5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14502277" 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="#15" class="mim-tip-reference" title="Gilbertson, R. J., Clifford, S. C. <strong>PDGFRB is overexpressed in metastatic medulloblastoma. (Letter)</strong> Nature Genet. 35: 197-198, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14593398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14593398</a>] [<a href="https://doi.org/10.1038/ng1103-197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14593398">Gilbertson and Clifford (2003)</a> presented data confirming that PDGFRB is preferentially expressed in metastatic medulloblastoma (<a href="/entry/155255">155255</a>) and suggested that it may prove useful as a prognostic marker and as a therapeutic target for the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14593398" 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="#38" class="mim-tip-reference" title="Svegliati Baroni, S., Santillo, M., Bevilacqua, F., Luchetti, M., Spadoni, T., Mancini, M., Fraticelli, P., Sambo, P., Funaro, A., Kazlauskas, A., Avvedimento, E. V., Gabrielli, A. <strong>Stimulatory autoantibodies to the PDGF receptor in systemic sclerosis.</strong> New Eng. J. Med. 354: 2667-2676, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790699</a>] [<a href="https://doi.org/10.1056/NEJMoa052955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790699">Svegliati Baroni et al. (2006)</a> presented evidence showing that stimulatory autoantibodies to PDGFR are a specific hallmark of scleroderma (<a href="/entry/181750">181750</a>). These antibodies appeared to trigger an intracellular loop that involves Ras (<a href="/entry/190020">190020</a>), ERK1 (<a href="/entry/601795">601795</a>)/ERK2 (<a href="/entry/176948">176948</a>), and reactive oxygen species (ROS) and that leads to increased type I collagen (<a href="/entry/120150">120150</a>) expression. The authors suggested that the biologic activity of PDGFR antibodies on fibroblasts has a causal role in the pathogenesis of the disease. <a href="#40" class="mim-tip-reference" title="Tan, F. K. <strong>Autoantibodies against PDGF receptor in scleroderma. (Editorial)</strong> New Eng. J. Med. 354: 2709-2711, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16790706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16790706</a>] [<a href="https://doi.org/10.1056/NEJMe068109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16790706">Tan (2006)</a> suggested that the profibrotic phenotype of fibroblasts in patients with scleroderma is maintained by at least 3 mechanisms involving TGFB1 (<a href="/entry/190180">190180</a>), PDGFR, and the Ras-ERK1/ERK2-ROS cascade. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16790706+16790699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Greenberg, J. I., Shields, D. J., Barillas, S. G., Acevedo, L. M., Murphy, E., Huang, J., Scheppke, L., Stockmann, C., Johnson, R. S., Angle, N., Cheresh, D. A. <strong>A role for VEGF as a negative regulator of pericyte function and vessel maturation.</strong> Nature 456: 809-813, 2008. Note: Erratum: Nature 457: 1168 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18997771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18997771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18997771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18997771">Greenberg et al. (2008)</a> defined a role for VEGF (<a href="/entry/192240">192240</a>) as an inhibitor of neovascularization on the basis of its capacity to disrupt vascular smooth muscle cell function. Specifically, under conditions of PDGF-mediated angiogenesis, VEGF ablates pericyte coverage of nascent vascular sprouts, leading to vessel destabilization. At the molecular level, VEGF-mediated activation of VEGFR2 (<a href="/entry/191306">191306</a>) suppresses PDGFRB signaling in vascular smooth muscle cells through the assembly of a receptor complex consisting of PDGFRB and VEGFR2. Inhibition of VEGFR2 not only prevents assembly of this receptor complex but also restores angiogenesis in tissues exposed to both VEGF and PDGF. Finally, genetic deletion of tumor cell VEGF disrupts PDGFRB/VEGFR2 complex formation and increases tumor vessel maturation. <a href="#17" class="mim-tip-reference" title="Greenberg, J. I., Shields, D. J., Barillas, S. G., Acevedo, L. M., Murphy, E., Huang, J., Scheppke, L., Stockmann, C., Johnson, R. S., Angle, N., Cheresh, D. A. <strong>A role for VEGF as a negative regulator of pericyte function and vessel maturation.</strong> Nature 456: 809-813, 2008. Note: Erratum: Nature 457: 1168 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18997771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18997771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18997771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18997771">Greenberg et al. (2008)</a> concluded that their findings underscored the importance of vascular smooth muscle cells/pericytes in neovascularization and revealed a dichotomous role for VEGF and VEGFR2 signaling as both a promoter of endothelial cell function and a negative regulator of vascular smooth muscle cells and vessel maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18997771" 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="#32" class="mim-tip-reference" title="Nazarian, R., Shi, H., Wang, Q., Kong, X., Koya, R. C., Lee, H., Chen, Z., Lee, M.-K., Attar, N., Sazegar, H., Chodon, T., Nelson, S. F., McArthur, G., Sosman, J. A., Ribas, A., Lo, R. S. <strong>Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.</strong> Nature 468: 973-977, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21107323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21107323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21107323[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21107323">Nazarian et al. (2010)</a> showed that acquired resistance of BRAF(V600E) (<a href="/entry/164757#0001">164757.0001</a>)-positive melanomas to PLX4032, a novel class I RAF-selective inhibitor, develops by mutually exclusive PDGFRB upregulation or NRAS (<a href="/entry/164790">164790</a>) mutations but not through secondary mutations in BRAF(V600E). <a href="#32" class="mim-tip-reference" title="Nazarian, R., Shi, H., Wang, Q., Kong, X., Koya, R. C., Lee, H., Chen, Z., Lee, M.-K., Attar, N., Sazegar, H., Chodon, T., Nelson, S. F., McArthur, G., Sosman, J. A., Ribas, A., Lo, R. S. <strong>Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.</strong> Nature 468: 973-977, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21107323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21107323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21107323[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21107323">Nazarian et al. (2010)</a> used PLX4032-resistant sublines artificially derived from BRAF(V600E)-positive melanoma cell lines and validated key findings in PLX4032-resistant tumors and tumor-matched, short-term cultures from clinical trial patients. Induction of PDGFRB RNA, protein, and tyrosine phosphorylation emerged as a dominant feature of acquired PLX4032 resistance in a subset of melanoma sublines, patient-derived biopsies, and short-term cultures. PDGFRB-upregulated tumor cells had low activated RAS levels and, when treated with PLX4032, did not reactivate the MAPK (see <a href="/entry/176872">176872</a>) pathway significantly. In another subset, high levels of activated NRAS resulting from mutations led to significant MAPK pathway reactivation upon PLX4032 treatment. Knockdown of PDGFRB or NRAS reduced growth of the respective PLX4032-resistant subsets. Overexpression of PDGFRB or mutated NRAS conferred PLX4032 resistance to PLX4032-sensitive parental cell lines. Importantly, <a href="#32" class="mim-tip-reference" title="Nazarian, R., Shi, H., Wang, Q., Kong, X., Koya, R. C., Lee, H., Chen, Z., Lee, M.-K., Attar, N., Sazegar, H., Chodon, T., Nelson, S. F., McArthur, G., Sosman, J. A., Ribas, A., Lo, R. S. <strong>Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.</strong> Nature 468: 973-977, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21107323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21107323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21107323[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21107323">Nazarian et al. (2010)</a> showed that MAPK reactivation predicts MEK inhibitor sensitivity. Thus, <a href="#32" class="mim-tip-reference" title="Nazarian, R., Shi, H., Wang, Q., Kong, X., Koya, R. C., Lee, H., Chen, Z., Lee, M.-K., Attar, N., Sazegar, H., Chodon, T., Nelson, S. F., McArthur, G., Sosman, J. A., Ribas, A., Lo, R. S. <strong>Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.</strong> Nature 468: 973-977, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21107323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21107323</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21107323[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09626" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21107323">Nazarian et al. (2010)</a> concluded that melanomas escape BRAF(V600E) targeting not through secondary BRAF(V600E) mutations but via receptor tyrosine kinase (RTK)-mediated activation of alternative survival pathway(s) or activated RAS-mediated reactivation of the MAPK pathway, suggesting additional therapeutic strategies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21107323" 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="#28" class="mim-tip-reference" title="Lui, J. H., Nowakowski, T. J., Pollen, A. A., Javaherian, A., Kriegstein, A. R., Oldham, M. C. <strong>Radial glia require PDGFD-PDGFR-beta signalling in human but not mouse neocortex.</strong> Nature 515: 264-268, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25391964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25391964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25391964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25391964">Lui et al. (2014)</a> analyzed differential gene coexpression relationships between mouse and human and demonstrated that the growth factor PDGFD (<a href="/entry/609673">609673</a>) is specifically expressed by radial glia in human, but not mouse, corticogenesis. <a href="#28" class="mim-tip-reference" title="Lui, J. H., Nowakowski, T. J., Pollen, A. A., Javaherian, A., Kriegstein, A. R., Oldham, M. C. <strong>Radial glia require PDGFD-PDGFR-beta signalling in human but not mouse neocortex.</strong> Nature 515: 264-268, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25391964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25391964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25391964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature13973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25391964">Lui et al. (2014)</a> also showed that the expression domain of PDGFRB is evolutionarily divergent, with high expression in the germinal region of dorsal human neocortex but not in the mouse. Pharmacologic inhibition of PDGFD-PDGFRB signaling in slice culture prevents normal cell cycle progression of neocortical radial glia in human, but not mouse. Conversely, injection of recombinant PDGFD or ectopic expression of constitutively active PDGFRB in developing mouse neocortex increases the proportion of radial glia and their subventricular dispersion. The authors concluded that their findings highlighted the requirement of PDGFD-PDGFRB signaling for human neocortical development and suggested that local production of growth factors by radial glia supports the expanded germinal region and progenitor heterogeneity of species with large brains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25391964" 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="#26" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> modeled the LMNA-related dilated cardiomyopathy (CMD1A; <a href="/entry/115200">115200</a>) in vitro using patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). These cardiomyocytes were developed from a large family cohort, members of which carried a frameshift mutation in LMNA that led to early termination of translation. Electrophysiologic studies showed that the mutant iPSC-CMs displayed aberrant calcium homeostasis that led to arrhythmias at the single-cell level. Mechanistically, <a href="#26" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> showed that the platelet-derived growth factor (PDGF) signaling pathway, in particular PDGFRB, is activated in mutant iPSC-CMs compared to isogenic control iPSC-CMs. Conversely, pharmacologic and molecular inhibition of the PDGF signaling pathway ameliorated the arrhythmic phenotypes of mutant iPSC-CMs in vitro. The findings of <a href="#26" class="mim-tip-reference" title="Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., Zhang, J. Z., Chen, X., and 12 others. <strong>Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.</strong> Nature 572: 335-340, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31316208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31316208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31316208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1406-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31316208">Lee et al. (2019)</a> suggested that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM, and that PDGFRB is a potential therapeutic target. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31316208" 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>PDGFRB Fusion Genes</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Abe, A., Emi, N., Tanimoto, M., Terasaki, H., Marunouchi, T., Saito, H. <strong>Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.</strong> Blood 90: 4271-4277, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9373237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9373237</a>]" pmid="9373237">Abe et al. (1997)</a> reported that in a patient with acute myelogenous leukemia (AML; <a href="/entry/601626">601626</a>), the TRIP11 gene (<a href="/entry/604505">604505</a>), which they called CEV14, was fused to the PDGFRB gene as a result of a t(5;14)(q33;q32) translocation. On initial diagnosis, this patient had exhibited a sole t(7;11) translocation, but the t(5;14)(q33;q32) translocation appeared during the relapse phase. The CEV14-PDGFRB chimeric gene consisted of the 5-prime region of CEV14 fused to the 3-prime region of PDGFRB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9373237" 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="#2" class="mim-tip-reference" title="Apperley, J. F., Gardembas, M., Melo, J. V., Russell-Jones, R., Bain, B. J., Baxter, E. J., Chase, A., Chessells, J. M., Colombat, M., Dearden, C. E., Dimitrijevic, S., Mahon, F.-X., Marin, D., Nikolova, Z., Olavarria, E., Silberman, S., Schultheis, B., Cross, N. C. P., Goldman, J. M. <strong>Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.</strong> New Eng. J. Med. 347: 481-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181402</a>] [<a href="https://doi.org/10.1056/NEJMoa020150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181402">Apperley et al. (2002)</a> noted that a small proportion of patients with chronic myeloproliferative disorders have constitutive activation of the PDGFRB gene, resulting in many cases from a chromosome translocation such as t(5;12), which creates a fusion gene with ETV6 (<a href="/entry/600618">600618</a>). Fusions between PDGFRB and H4/D10S170 (<a href="/entry/601985">601985</a>), rabaptin-5 (RABPT5; <a href="/entry/603616">603616</a>), and huntingtin-interacting protein-1 (HIP1; <a href="/entry/601767">601767</a>) have also been reported in cases of chronic myeloproliferative disorders. The protein tyrosine kinase activity of PDGFRB, like that of ABL1 (<a href="/entry/189980">189980</a>) and KIT (<a href="/entry/164920">164920</a>), is inhibited by imatinib mesylate. The compound has been shown to be effective in the treatment of chronic myeloid leukemia (<a href="/entry/151410">151410</a>) and gastrointestinal stromal tumors (<a href="/entry/606764">606764</a>), which are caused by abnormalities in the ABL1 and KIT genes, respectively. <a href="#2" class="mim-tip-reference" title="Apperley, J. F., Gardembas, M., Melo, J. V., Russell-Jones, R., Bain, B. J., Baxter, E. J., Chase, A., Chessells, J. M., Colombat, M., Dearden, C. E., Dimitrijevic, S., Mahon, F.-X., Marin, D., Nikolova, Z., Olavarria, E., Silberman, S., Schultheis, B., Cross, N. C. P., Goldman, J. M. <strong>Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.</strong> New Eng. J. Med. 347: 481-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181402</a>] [<a href="https://doi.org/10.1056/NEJMoa020150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12181402">Apperley et al. (2002)</a> demonstrated that imatinib mesylate was also effective in the treatment of chronic myeloproliferative disorders with rearrangements of the PDGFRB gene. Three of 4 patients presented with leukocytosis and eosinophilia (see <a href="/entry/131440">131440</a>), and their leukemia cells carried the ETV6-PDGFRB fusion gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181402" 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="#37" class="mim-tip-reference" title="Steer, E. J., Cross, N. C. P. <strong>Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor beta.</strong> Acta Haemat. 107: 113-122, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11919393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11919393</a>] [<a href="https://doi.org/10.1159/000046641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11919393">Steer and Cross (2002)</a> reviewed the acquired reciprocal chromosomal translocations that involve 5q31-q33 and are associated with a significant minority of patients with BCR-ABL-negative chronic myeloid leukemias. The most common of these fuses the ETV6 gene to the PDGFRB gene, but at the time of the review 4 additional partner genes were known: H4 (D10S170), HIP1, CEV14 (TRIP11), and rabaptin-5. Clinically, most patients present with a myeloproliferative disorder with eosinophilia, eosinophilic leukemia, or chronic myelomonocytic leukemia and thus fall into the broad category of myeloproliferative disorders/myelodysplastic syndromes (MPD/MDS). With the advent of targeted signal transduction therapy, patients with rearrangement of PDGFRB might be better classified as a distinct subgroup of MPD/MDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11919393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 9 patients with BCR-ABL-negative chronic myeloproliferative disorders or MPD/MDS, <a href="#4" class="mim-tip-reference" title="Baxter, E. J., Kulkarni, S., Vizmanos, J.-L., Jaju, R., Martinelli, G., Testoni, N., Hughes, G., Salamanchuk, Z., Calasanz, M. J., Lahortiga, I., Pocock, C. F., Dang, R., Fidler, C., Wainscoat, J. S., Boultwood, J., Cross, N. C. P. <strong>Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.</strong> Brit. J. Haemat. 120: 251-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12542482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12542482</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2003.04051.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12542482">Baxter et al. (2003)</a> described translocations involving chromosome bands 5q31 or 5q33, resulting in fusion of the PDGFRB gene with other genes. They commented that several PDGFRB partner genes remained to be characterized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12542482" 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="#35" class="mim-tip-reference" title="Pierce, A., Carney, L., Hamza, H. G., Griffiths, J. R., Zhang, L., Whetton, B. A., Gonzalez Sanchez, M. B., Tamura, T., Sternberg, D., Whetton, A. D. <strong>THOC5 spliceosome protein: a target for leukaemogenic tyrosine kinases that affects inositol lipid turnover.</strong> Brit. J. Haemat. 141: 641-650, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18373705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18373705</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2008.07090.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18373705">Pierce et al. (2008)</a> showed that expression of TEL/PDGFRB in murine myeloid FDCP-Mix cells prevented cell differentiation, increased cell survival, increased the level of phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3), and increased the expression and phosphorylation of Thoc5 (<a href="/entry/612733">612733</a>). Elevated Thoc5 expression also led to increased cell survival and PtdInsP3 levels, suggesting that the effects associated with TEL/PDGFRB expression were due, at least in part, to Thoc5 upregulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18373705" 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="#43" class="mim-tip-reference" title="Walz, C., Haferlach, C., Hanel, A., Metzgeroth, G., Erben, P., Gosenca, D., Hochhaus, A., Cross, N. C. P., Reiter, A. <strong>Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).</strong> Genes Chromosomes Cancer 48: 179-183, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006078</a>] [<a href="https://doi.org/10.1002/gcc.20629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006078">Walz et al. (2009)</a> reported a 51-year-old male with imatinib-responsive eosinophilia associated with atypical myeloproliferative neoplasm who presented with a t(5;17)(q33-34;q11.2). The translocation resulted in the fusion of MYO18A (<a href="/entry/610067">610067</a>) intron 40 to PDGFRB intron 9, and RT-PCR confirmed in-frame fusion between MYO18A exon 40 and PDGFRB exon 10. The predicted 2,661-amino acid chimeric protein contains almost all of the MYO18A sequence fused to the PDGFRB transmembrane, WW-like, and kinase domains. RT-PCR also detected the reciprocal PDGFRB-MYO18A transcript, with PDGFRB exon 9 fused to MYO18A exon 41. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006078" 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>Idiopathic Basal Ganglia Calcification 4</em></strong>
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<p>In affected members of a large 3-generation family with idiopathic basal ganglia calcification-4 (IBGC4; <a href="/entry/615007">615007</a>), <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al. (2013)</a> identified a heterozygous mutation in the PDGFRB gene (L658P; <a href="#0001">173410.0001</a>). The mutation, which was identified by exome sequencing of 2 affected individuals and confirmed by Sanger sequencing, segregated with the disorder in this family and was not found in several large exome databases. Many mutation carriers were asymptomatic, but 1 had late-onset parkinsonism and dementia, and several had depression or migraine. <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al. (2013)</a> noted that animal models have shown a key role for Pdgfrb in the development of pericytes in vessels within the brain, and that pericytes have a key role in maintaining the integrity of the blood-brain barrier, which is hypothesized to be impaired in IBGC. In addition, the PDGFB-PDGFRB pathway appears to be involved in phosphate-induced calcifications in vascular smooth muscle cells by modulating expression of the phosphate transporter SLC20A1 (<a href="/entry/137570">137570</a>) (<a href="#42" class="mim-tip-reference" title="Villa-Bellosta, R., Levi, M., Sorribas, V. <strong>Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi.</strong> Pflugers Arch. 458: 1151-1161, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19506901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19506901</a>] [<a href="https://doi.org/10.1007/s00424-009-0688-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19506901">Villa-Bellosta et al., 2009</a>); IBGC1 (<a href="/entry/213600">213600</a>) is caused by mutation in a related phosphate transporter SLC20A2 (<a href="/entry/158378">158378</a>). These findings suggest that cerebral phosphate homeostasis may play a role in vascular calcifications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23255827+19506901" 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>Infantile Myofibromatosis 1</em></strong>
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<p>In affected members of 4 unrelated families with infantile myofibromatosis-1 (IMF1; <a href="/entry/228550">228550</a>), <a href="#8" class="mim-tip-reference" title="Cheung, Y. H., Gayden, T., Campeau, P. M., LeDuc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others. <strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 996-1000, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731537">Cheung et al. (2013)</a> identified the same heterozygous missense mutation in the PDGFRB gene (R561C; <a href="#0003">173410.0003</a>). The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. In addition, tumor tissue from 1 of the patients who carried a germline R561C mutation harbored an additional somatic PDGFRB mutation (N666K) that was predicted to be damaging. Structural modeling indicated that the R561C mutation occurs in the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. Modeling also predicted that the N666K mutation would favor an active kinase formation. In vitro functional studies were not performed. Sequencing the PDGFRB gene in 5 individuals with nonfamilial IMF did not identify any causative mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731537" 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="#29" class="mim-tip-reference" title="Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., and 16 others. <strong>: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 1001-1007, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731542">Martignetti et al. (2013)</a> identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. Another family with the disorder carried a different heterozygous mutation in the PDGFRB gene (P660T; <a href="#0004">173410.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731542" 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>Kosaki Overgrowth Syndrome</em></strong>
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<p>In 2 unrelated Japanese girls with overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, and neurologic deterioration (KOGS; <a href="/entry/616592">616592</a>), <a href="#39" class="mim-tip-reference" title="Takenouchi, T., Yamaguchi, Y., Tanikawa, A., Kosaki, R., Okano, H., Kosaki, K. <strong>Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.</strong> J. Pediat. 166: 483-486, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25454926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25454926</a>] [<a href="https://doi.org/10.1016/j.jpeds.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25454926">Takenouchi et al. (2015)</a> identified heterozygosity for a missense mutation in the PDGFRB gene (P584R; <a href="#0005">173410.0005</a>) that was de novo in each proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25454926" 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 2 unrelated females with KOGS, <a href="#31" class="mim-tip-reference" title="Minatogawa, M., Takenouchi, T., Tsuyusaki, Y., Iwasaki, F., Uenara, T., Kurosawa, K., Kosaki, K., Curry, C. J. <strong>Expansion of the phenotype of Kosaki overgrowth syndrome.</strong> Am. J. Med. Genet. 173A: 2422-2427, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28639748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28639748</a>] [<a href="https://doi.org/10.1002/ajmg.a.38310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28639748">Minatogawa et al. (2017)</a> identified the same heterozygous missense mutation in the PDGFRB gene (W566R; <a href="#0007">173410.0007</a>). The mutation was identified by exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28639748" 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 10-year-old boy with KOGS, <a href="#14" class="mim-tip-reference" title="Gawlinski, P., Pelc, M., Ciara, E., Jhangiani, S., Jurkiewicz, E., Gambin, T., Rozdzynska-Swiatkowska, A., Dawidziuk, M., Coban-Akdemir, Z. H., Guilbride, D. L., Muzny, D., Lupski, J. R., Krajewska-Walasek, M. <strong>Phenotype expansion and development in Kosaki overgrowth syndrome.</strong> Clin. Genet. 93: 919-924, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29226947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29226947</a>] [<a href="https://doi.org/10.1111/cge.13192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29226947">Gawlinski et al. (2018)</a> identified de novo heterozygosity for the previously reported P584R mutation (<a href="#0005">173410.0005</a>) in the PDGFRB gene. The mutation was identified by trio whole-exome sequencing. The patient had several characteristic features of KOGS, including typical facies, overgrowth, and tall stature, but also some progressive features not previously reported in this syndrome, suggesting expansion of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29226947" 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>Premature Aging Syndrome, Penttinen Type</em></strong>
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<p>In 4 unrelated patients with the Penttinen type of premature aging syndrome (PENTT; <a href="/entry/601812">601812</a>), <a href="#23" class="mim-tip-reference" title="Johnston, J. J., Sanchez-Contreras, M. Y., Keppler-Noreuil, K. M., Sapp, J., Crenshaw, M., Finch, N. A., Cormier-Daire, V., Rademakers, R., Sybert, V. P., Biesecker, L. G. <strong>A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome.</strong> Am. J. Hum. Genet. 97: 465-474, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26279204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26279204</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26279204[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26279204">Johnston et al. (2015)</a> identified heterozygosity for a missense mutation in the PDGFRB gene (V665A; <a href="#0006">173410.0006</a>). The mutation arose de novo in the 2 probands for whom parental DNA was available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26279204" 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 2 unrelated patients with lipodystrophy, acroosteolysis, and severe vision impairment, reminiscent of a severe form of Penttinen syndrome, <a href="#6" class="mim-tip-reference" title="Bredrup, C., Stokowy, T., McGaughran, J., Lee, S., Sapkota, D., Cristea, I., Xu, L., Tveit, K. S., Hovding, G., Steen, V. M., Rodahl, E., Bruland, O., Houge, G. <strong>A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.</strong> Europ. J. Hum. Genet. 27: 574-581, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30573803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30573803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30573803[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-018-0323-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30573803">Bredrup et al. (2019)</a> identified the same de novo missense mutation in the PDGFRB gene (N666S; <a href="#0008">173410.0008</a>). Functional studies using patient fibroblasts and transduced HeLa cells showed that the variant caused autophosphorylation of PDGFR-beta and induced phosphorylation of several downstream signaling proteins. Extensive apoptosis was seen in short-term patient-derived skin fibroblast cultures. Imatinib was a strong in vitro inhibitor of the mutant PDGFR-beta protein, suggesting an option for treatment of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30573803" 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="mim-changed mim-change"><p><strong><em>Ocular Pterygium-Digital Keloid Dysplasia Syndrome</em></strong>
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<div class="mim-changed mim-change"><p>In 4 affected individuals over 3 generations of a Norwegian family with ocular pterygium-digital keloid dysplasia syndrome (OPDKD; <a href="/entry/621091">621091</a>), <a href="#5" class="mim-tip-reference" title="Bredrup, C., Cristea, I., Safieh, L. A., Di Maria, E., Gjertsen, B. T., Tveit, K. S., Thu, F., Bull, N., Edward, D. P., Hennekam, R. C. M., Hovding, G., Haugen, O. H., Houge, G., Rodahl, E., Bruland, O. <strong>Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.</strong> Hum. Molec. Genet. 30: 72-77, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33450762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33450762</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33450762[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33450762">Bredrup et al. (2021)</a> identified heterozygosity for a missense mutation in the PDGFRB gene (N666Y; <a href="#0010">173410.0010</a>) that arose de novo in the mother and segregated with disease. The authors noted that overgrowth in this disorder affects body parts (cornea and digits) that typically have temperatures lower than 37 degrees Celsius, and functional analysis demonstrated that the N666Y variant is a temperature-sensitive activating substitution, with elevated phosphorylation levels at 37 degrees Celsius that increased even higher at 32 degrees Celsius (the average corneal temperature). This temperature effect did not occur with control PDGFRB or with the Penttinen syndrome-associated variant at the same PDGFRB residue, N666S. The authors suggested that altered signaling caused by physiologic temperature differences might be the underlying reason for the localization and organ-specific manifestations of N666 PDGFRB-related conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33450762" 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></div>
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<div class="mim-changed mim-change"><p><strong><em>Associations Pending Confirmation</em></strong>
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<div class="mim-changed mim-change"><p>For discussion of a possible association between corneal vascularization (pterygium; see <a href="/entry/178000">178000</a>) and mutation in the PDGFRB gene, see <a href="#0009">173410.0009</a>.</p></div>
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<p><a href="#24" class="mim-tip-reference" title="Klinghoffer, R. A., Mueting-Nelsen, P. F., Faerman, A., Shani, M., Soriano, P. <strong>The two PDGF receptors maintain conserved signaling in vivo despite divergent embryological functions.</strong> Molec. Cell 7: 343-354, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239463</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00182-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11239463">Klinghoffer et al. (2001)</a> created 2 complementary lines of knockin mice in which the intracellular signaling domains of one PDGFR had been removed and replaced by those of the other PDGFR. While both lines demonstrated substantial rescue of normal development, substitution of the Pdgfrb signaling domains with those of Pdgfra resulted in varying degrees of vascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239463" 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="Armulik, A., Genove, G., Mae, M., Nisancioglu, M. H., Wallgard, E., Niaudet, C., He, L., Norlin, J., Lindblom, P., Strittmatter, K., Johansson, B. R., Betsholtz, C. <strong>Pericytes regulate the blood-brain barrier.</strong> Nature 468: 557-561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944627</a>] [<a href="https://doi.org/10.1038/nature09522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944627">Armulik et al. (2010)</a> demonstrated a direct role of pericytes at the blood-brain barrier in vivo. Using a set of adult viable pericyte-deficient mouse mutants, they showed that pericyte deficiency increases the permeability of the blood-brain barrier to water and a range of low molecular mass and high molecular mass tracers. The increased permeability occurs by endothelial transcytosis, a process that is rapidly arrested by the drug imatinib. Furthermore, <a href="#3" class="mim-tip-reference" title="Armulik, A., Genove, G., Mae, M., Nisancioglu, M. H., Wallgard, E., Niaudet, C., He, L., Norlin, J., Lindblom, P., Strittmatter, K., Johansson, B. R., Betsholtz, C. <strong>Pericytes regulate the blood-brain barrier.</strong> Nature 468: 557-561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944627</a>] [<a href="https://doi.org/10.1038/nature09522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944627">Armulik et al. (2010)</a> showed that pericytes function at the blood-brain barrier in at least 2 ways: by regulating blood-brain barrier-specific gene expression patterns in endothelial cells, and by inducing polarization of astrocyte end-feet surrounding central nervous system (CNS) blood vessels. <a href="#3" class="mim-tip-reference" title="Armulik, A., Genove, G., Mae, M., Nisancioglu, M. H., Wallgard, E., Niaudet, C., He, L., Norlin, J., Lindblom, P., Strittmatter, K., Johansson, B. R., Betsholtz, C. <strong>Pericytes regulate the blood-brain barrier.</strong> Nature 468: 557-561, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944627</a>] [<a href="https://doi.org/10.1038/nature09522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944627">Armulik et al. (2010)</a> concluded that their results indicated a novel and critical role for pericytes in the integration of endothelial and astrocyte functions at the neurovascular unit, and in the regulation of the blood-brain barrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20944627" 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="#10" class="mim-tip-reference" title="Daneman, R., Zhou, L., Kebede, A. A., Barres, B. A. <strong>Pericytes are required for blood-brain barrier integrity during embryogenesis.</strong> Nature 468: 562-566, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20944625[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944625">Daneman et al. (2010)</a> independently showed that the blood-brain barrier is formed during embryogenesis as endothelial cells invade the CNS and pericytes are recruited to the nascent vessels, over a week before astrocyte generation. Analyzing mice with null and hypomorphic alleles of Pdgfrb, which have defects in pericyte generation, they demonstrated that pericytes are necessary for the formation of the blood-brain barrier, and that absolute pericyte coverage determines relative vascular permeability. <a href="#10" class="mim-tip-reference" title="Daneman, R., Zhou, L., Kebede, A. A., Barres, B. A. <strong>Pericytes are required for blood-brain barrier integrity during embryogenesis.</strong> Nature 468: 562-566, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20944625[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944625">Daneman et al. (2010)</a> demonstrated that pericytes regulate functional aspects of the blood-brain barrier, including the formation of tight junctions and vesicle trafficking in CNS endothelial cells. Pericytes do not induce blood-brain barrier-specific gene expression in CNS endothelial cells, but inhibit the expression of molecules that increase vascular permeability and CNS immune cell infiltration. <a href="#10" class="mim-tip-reference" title="Daneman, R., Zhou, L., Kebede, A. A., Barres, B. A. <strong>Pericytes are required for blood-brain barrier integrity during embryogenesis.</strong> Nature 468: 562-566, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20944625[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944625">Daneman et al. (2010)</a> concluded that pericyte-endothelial cell interactions are critical to regulate the blood-brain barrier during development, and that disruption of these interactions may lead to blood-brain barrier dysfunction and neuroinflammation during CNS injury and disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20944625" 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">rs397509381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509381;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=rs397509381" 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=rs397509381" 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=RCV000032788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032788</a>
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<p>In affected members of a large 3-generation family with idiopathic basal ganglia calcification-4 (IBGC4; <a href="/entry/615007">615007</a>), <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al. (2013)</a> identified a heterozygous 1973T-C transition in the PDGFRB gene, resulting in a leu658-to-pro (L658P) substitution at a highly conserved residue within the tyrosine kinase domain. The mutation, which was identified by exome sequencing of 2 affected individuals and confirmed by Sanger sequencing, segregated with the disorder in this family and was not found in several large exome databases. No functional studies were performed. Many mutation carriers were asymptomatic, but 1 had late-onset parkinsonism and dementia, and several had depression or migraine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397509382 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509382;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397509382?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397509382" 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=rs397509382" 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=RCV000032789 OR RCV002254271" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032789, RCV002254271" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032789...</a>
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<p>In a 66-year-old woman with sporadic occurrence of IBGC4 (<a href="/entry/615007">615007</a>), <a href="#33" class="mim-tip-reference" title="Nicolas, G., Pottier, C., Maltete, D., Coutant, S., Rovelet-Lecrux, A., Legallic, S., Rousseau, S., Vaschalde, Y., Guyant-Marechal, L., Augustin, J., Martinaud, O., Defebvre, L., and 10 others. <strong>Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.</strong> Neurology 80: 181-187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255827</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31827ccf34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255827">Nicolas et al. (2013)</a> identified a heterozygous 2959C-T transition in the PDGFRB gene, resulting in an arg987-to-trp (R987W) substitution at a highly conserved residue. The mutation was not found in multiple exome databases. No functional studies were performed. The patient presented with a mild cognitive dysexecutive syndrome and bradykinesia and pyramidal signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MYOFIBROMATOSIS, INFANTILE, 1</strong>
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PDGFRB, ARG561CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs367543286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543286;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=rs367543286" 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=rs367543286" 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=RCV000049264 OR RCV000390507 OR RCV000454370 OR RCV001197225 OR RCV001201357" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049264, RCV000390507, RCV000454370, RCV001197225, RCV001201357" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049264...</a>
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<p>In affected members of 4 unrelated families with infantile myofibromatosis-1 (IMF1; <a href="/entry/228550">228550</a>), <a href="#8" class="mim-tip-reference" title="Cheung, Y. H., Gayden, T., Campeau, P. M., LeDuc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others. <strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 996-1000, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731537">Cheung et al. (2013)</a> identified a heterozygous c.1681C-T transition in the PDGFRB gene, resulting in an arg561-to-cys (R561C) substitution at a highly conserved residue. The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. Structural modeling indicated that the R561C mutation occurs in the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. In vitro functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731537" 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="#29" class="mim-tip-reference" title="Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., and 16 others. <strong>: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 1001-1007, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731542">Martignetti et al. (2013)</a> identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23731542" 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="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 MYOFIBROMATOSIS, INFANTILE, 1</strong>
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PDGFRB, PRO660THR (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs144050370;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs144050370</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"><span class="text-primary">●</span> rs144050370 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs144050370;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs144050370?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs144050370" 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=rs144050370" 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=RCV000049265 OR RCV001853035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049265, RCV001853035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049265...</a>
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<p>In affected members of a family with autosomal dominant infantile myofibromatosis-1 (<a href="/entry/228550">228550</a>) originally reported by <a href="#46" class="mim-tip-reference" title="Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-M cGinn, D., Zackai, E. H. <strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong> Am. J. Med. Genet. 126A: 261-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>] [<a href="https://doi.org/10.1002/ajmg.a.20598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054839">Zand et al. (2004)</a>, <a href="#29" class="mim-tip-reference" title="Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C. M., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., and 16 others. <strong>: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.</strong> Am. J. Hum. Genet. 92: 1001-1007, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.04.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23731542">Martignetti et al. (2013)</a> identified a heterozygous c.1978C-A transversion in exon 14 of the PDGFRB gene, resulting in a pro660-to-thr (P660T) substitution at a highly conserved residue in the tyrosine kinase domain. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was found at very low frequency (0.000077) in control databases (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs144050370;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs144050370</a>). In vitro functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23731542+15054839" 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 KOSAKI OVERGROWTH SYNDROME</strong>
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PDGFRB, PRO584ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863224946 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863224946;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=rs863224946" 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=rs863224946" 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=RCV000200957 OR RCV001335958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000200957, RCV001335958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000200957...</a>
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<p>In 2 unrelated Japanese girls with overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, and neurologic deterioration (KOGS; <a href="/entry/616592">616592</a>), <a href="#39" class="mim-tip-reference" title="Takenouchi, T., Yamaguchi, Y., Tanikawa, A., Kosaki, R., Okano, H., Kosaki, K. <strong>Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.</strong> J. Pediat. 166: 483-486, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25454926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25454926</a>] [<a href="https://doi.org/10.1016/j.jpeds.2014.10.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25454926">Takenouchi et al. (2015)</a> identified de novo heterozygosity for a c.1751C-G transversion (c.1751C-G, NM_002609) in exon 12 of the PDGFRB gene, resulting in a pro584-to-arg (P584R) substitution at a highly conserved residue within the juxtamembrane domain. One of the girls had a myofibroma removed from her mandible at age 8 years. Brain MRI showed extensive periventricular white matter lesions in both patients, but there was no evidence of intracranial calcification on CT scan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25454926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old boy with KOGS, <a href="#14" class="mim-tip-reference" title="Gawlinski, P., Pelc, M., Ciara, E., Jhangiani, S., Jurkiewicz, E., Gambin, T., Rozdzynska-Swiatkowska, A., Dawidziuk, M., Coban-Akdemir, Z. H., Guilbride, D. L., Muzny, D., Lupski, J. R., Krajewska-Walasek, M. <strong>Phenotype expansion and development in Kosaki overgrowth syndrome.</strong> Clin. Genet. 93: 919-924, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29226947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29226947</a>] [<a href="https://doi.org/10.1111/cge.13192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29226947">Gawlinski et al. (2018)</a> identified de novo heterozygosity for the P584R mutation in the PDGFRB gene. The mutation was identified by trio whole-exome sequencing. The patient had several characteristic features of KOGS, including typical facies, overgrowth, and tall stature, but also some progressive features such as premature aging and lipodystrophy beginning at age 8 years. At age 10 years, he did not have psychiatric manifestations, myofibroma, or neurologic deterioration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29226947" 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 4 unrelated patients with the Penttinen type of premature aging syndrome (PENTT; <a href="/entry/601812">601812</a>), including the Finnish patient originally described by <a href="#34" class="mim-tip-reference" title="Penttinen, M., Niemi, K.-M., Vinkka-Puhakka, H., Johansson, R., Aula, P. <strong>New progeroid disorder.</strong> Am. J. Med. Genet. 69: 182-187, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9056558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9056558</a>]" pmid="9056558">Penttinen et al. (1997)</a> and a girl of North Vietnamese and Chinese ancestry previously reported by <a href="#47" class="mim-tip-reference" title="Zufferey, F., Hadj-Rabia, S., De Sandre-Giovannoli, A., Dufier, J.-L., Leheup, B., Schweitze, C., Bodemer, C., Cormier-Daire, V., Le Merrer, M. <strong>Acro-osteolysis, keloid-like lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.</strong> Am. J. Med. Genet. 161A: 1786-1791, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23720404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23720404</a>] [<a href="https://doi.org/10.1002/ajmg.a.35984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23720404">Zufferey et al. (2013)</a>, <a href="#23" class="mim-tip-reference" title="Johnston, J. J., Sanchez-Contreras, M. Y., Keppler-Noreuil, K. M., Sapp, J., Crenshaw, M., Finch, N. A., Cormier-Daire, V., Rademakers, R., Sybert, V. P., Biesecker, L. G. <strong>A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome.</strong> Am. J. Hum. Genet. 97: 465-474, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26279204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26279204</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26279204[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26279204">Johnston et al. (2015)</a> identified heterozygosity for a c.1994T-C transition (c.1994T-C, NM_002609.3) in the PDGFRB gene, resulting in a val665-to-ala (V665A) substitution within the kinase domain. The mutation arose de novo in the 2 probands for whom parental DNA was available. Functional analysis in transfected HeLa cells demonstrated ligand-independent constitutive signaling through STAT3 (<a href="/entry/102582">102582</a>) and PLC-gamma (see <a href="/entry/172420">172420</a>), indicating that V665A represents a gain-of-function alteration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9056558+23720404+26279204" 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 2 unrelated females with Kosaki overgrowth syndrome (KOGS; <a href="/entry/616592">616592</a>), <a href="#31" class="mim-tip-reference" title="Minatogawa, M., Takenouchi, T., Tsuyusaki, Y., Iwasaki, F., Uenara, T., Kurosawa, K., Kosaki, K., Curry, C. J. <strong>Expansion of the phenotype of Kosaki overgrowth syndrome.</strong> Am. J. Med. Genet. 173A: 2422-2427, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28639748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28639748</a>] [<a href="https://doi.org/10.1002/ajmg.a.38310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28639748">Minatogawa et al. (2017)</a> identified heterozygosity for a c.1696T-C transition (c.1696T-C, NM_002609.3) in exon 12 of the PDGFRB gene, resulting in a trp566-to-arg (W566R) substitution in the juxtamembrane domain. The mutation was found by exome sequencing and confirmed by Sanger sequencing. The mutation occurred de novo in patient 1, and was not present in the unaffected mother and sister of patient 2. The variant was not present in the ExAC and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28639748" 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 2 unrelated patients with lipodystrophy, acroosteolysis, and severe vision impairment, reminiscent of a severe form of Penttinen syndrome (PENTT; <a href="/entry/601812">601812</a>), <a href="#6" class="mim-tip-reference" title="Bredrup, C., Stokowy, T., McGaughran, J., Lee, S., Sapkota, D., Cristea, I., Xu, L., Tveit, K. S., Hovding, G., Steen, V. M., Rodahl, E., Bruland, O., Houge, G. <strong>A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.</strong> Europ. J. Hum. Genet. 27: 574-581, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30573803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30573803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30573803[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-018-0323-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30573803">Bredrup et al. (2019)</a> identified a de novo c.1997A-G transition (c.1997A-G, NM_002609.3) in the PDGFRB gene, resulting in an asn666-to-ser (N666S) substitution. The variant was found by whole-genome and Sanger sequencing. Functional studies using patient fibroblasts and transduced HeLa cells showed that the variant caused autophosphorylation of PDGFR-beta and induced phosphorylation of several downstream signaling proteins. Extensive apoptosis was seen in short-term patient-derived skin fibroblast cultures. Imatinib was a strong in vitro inhibitor of the mutant PDGFR-beta protein, suggesting an option for treatment of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30573803" 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="mim-changed mim-change"><p>This variant is classified as a variant of unknown significance because its contribution to corneal vascularization (ocular pterygium; see <a href="/entry/178000">178000</a>) has not been confirmed.</p><p>In a Saudi aunt, nephew, and niece with early-onset corneal vascularization, originally described by <a href="#22" class="mim-tip-reference" title="Islam, S. I., Wagoner, M. D. <strong>Pterygium in young members of one family.</strong> Cornea 20: 708-710, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11588421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11588421</a>] [<a href="https://doi.org/10.1097/00003226-200110000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11588421">Islam and Wagoner (2001)</a>, <a href="#16" class="mim-tip-reference" title="Gladkauskas, T., Bruland, O., Abu Safieh, L., Edward, D. P., Rodahl, E., Bredrup, C. <strong>Corneal vascularization associated with a novel PDGFRB variant.</strong> Invest. Ophthal. Vis. Sci. 64: 9, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37934158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37934158</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37934158[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/10.1167/iovs.64.14.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37934158">Gladkauskas et al. (2023)</a> identified heterozygosity for a c.1643C-A transversion (c.1643C-A, NM_002609.3) in exon 11 of the PDGFRB gene, resulting in a ser548-to-tyr (S548Y) substitution at a highly conserved residue within the transmembrane domain. The variant was not found in in-house Norwegian controls or in public variant databases. Analysis of transduced HeLa cells showed similar amounts of phosphorylated PDGFRB with the mutant or with wildtype PDGFRB; however, upon stimulation with ligand, mutant cells showed significantly increased activation compared to wildtype cells. The mutation status of the children's mother, an obligate carrier, who did not have pterygium but was legally blind due to central corneal scarring with peripheral vascularization, was not reported; nor was the mutation status of a sib with severe visual impairment of the left eye due to dense corneal opacity. The affected individuals in the Saudi family were said to be otherwise healthy, but the presence or absence of digital keloids or cutaneous fibromas was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=37934158+11588421" 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></div>
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<strong><div class="mim-changed mim-change">.0010 OCULAR PTERYGIUM-DIGITAL KELOID DYSPLASIA SYNDROME (1 family)</div></strong>
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<div class="mim-changed mim-change">PDGFRB, ASN666TYR</div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV005054501" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV005054501" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV005054501</a>
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<div class="mim-changed mim-change"><p>In 4 affected individuals over 3 generations of a Norwegian family with ocular pterygium-digital keloid dysplasia syndrome (OPDKD; <a href="/entry/621091">621091</a>), previously reported by <a href="#20" class="mim-tip-reference" title="Haugen, O. H., Bertelsen, T. <strong>A new hereditary conjunctivo-corneal dystrophy associated with dermal keloid formation. Report of a family.</strong> Acta Ophthal. Scand. 76: 461-465, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9716334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9716334</a>] [<a href="https://doi.org/10.1034/j.1600-0420.1998.760413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9716334">Haugen and Bertelsen (1998)</a>, <a href="#5" class="mim-tip-reference" title="Bredrup, C., Cristea, I., Safieh, L. A., Di Maria, E., Gjertsen, B. T., Tveit, K. S., Thu, F., Bull, N., Edward, D. P., Hennekam, R. C. M., Hovding, G., Haugen, O. H., Houge, G., Rodahl, E., Bruland, O. <strong>Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.</strong> Hum. Molec. Genet. 30: 72-77, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33450762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33450762</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33450762[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33450762">Bredrup et al. (2021)</a> identified heterozygosity for a c.1996A-T transversion in the PDGFRB gene, resulting in an asn666-to-tyr (N666Y) substitution at a highly conserved residue in the RTK class III signature motif within the autoinhibitory domain. The mutation occurred de novo in the proband and segregated with disease in the family. Noting that overgrowth in this disorder affects body parts (cornea and digits) that typically have temperatures lower than 37 degrees Celsius, the authors studied the effect of physiologic temperature differences on PDGFRB autophosphorylation and phosphorylation of selected downstream proteins. Phosphorylation levels were higher in OPDKD fibroblasts and transduced HeLa cells than in control cells at 37 degrees Celsius, and phosphorylation levels with the N666Y mutant further greatly increased at 32 degrees Celsius (the average corneal temperature). This temperature effect did not occur with control PDGFRB or with the Penttinen syndrome-associated variant at the same PDGFRB residue, N666S (<a href="#0008">173410.0008</a>). The authors suggested that temperature-dependent autoactivation accounts for the strikingly different clinical outcomes of substitutions at the N666 codon of PDGFRB. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9716334+33450762" 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></div>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Leal1985" class="mim-tip-reference" title="Leal, F., Williams, L. T., Robbins, K. C., Aaronson, S. A. <strong>Evidence that the v-sis gene product transforms by interaction with the receptor for platelet-derived growth factor.</strong> Science 230: 327-330, 1985.">Leal et al. (1985)</a>
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<strong>REFERENCES</strong>
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Abe, A., Emi, N., Tanimoto, M., Terasaki, H., Marunouchi, T., Saito, H.
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Blood 90: 4271-4277, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12181402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12181402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12181402" 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/10.1056/NEJMoa020150" target="_blank">Full Text</a>]
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<a id="Armulik2010" class="mim-anchor"></a>
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Armulik, A., Genove, G., Mae, M., Nisancioglu, M. H., Wallgard, E., Niaudet, C., He, L., Norlin, J., Lindblom, P., Strittmatter, K., Johansson, B. R., Betsholtz, C.
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<strong>Pericytes regulate the blood-brain barrier.</strong>
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Nature 468: 557-561, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20944627" 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/nature09522" target="_blank">Full Text</a>]
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Baxter, E. J., Kulkarni, S., Vizmanos, J.-L., Jaju, R., Martinelli, G., Testoni, N., Hughes, G., Salamanchuk, Z., Calasanz, M. J., Lahortiga, I., Pocock, C. F., Dang, R., Fidler, C., Wainscoat, J. S., Boultwood, J., Cross, N. C. P.
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<strong>Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12542482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12542482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12542482" 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/10.1046/j.1365-2141.2003.04051.x" target="_blank">Full Text</a>]
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<a id="Bredrup2021" class="mim-anchor"></a>
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Bredrup, C., Cristea, I., Safieh, L. A., Di Maria, E., Gjertsen, B. T., Tveit, K. S., Thu, F., Bull, N., Edward, D. P., Hennekam, R. C. M., Hovding, G., Haugen, O. H., Houge, G., Rodahl, E., Bruland, O.
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<strong>Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.</strong>
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Hum. Molec. Genet. 30: 72-77, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33450762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33450762</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33450762[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=33450762" 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/ddab014" target="_blank">Full Text</a>]
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<a id="Bredrup2019" class="mim-anchor"></a>
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Bredrup, C., Stokowy, T., McGaughran, J., Lee, S., Sapkota, D., Cristea, I., Xu, L., Tveit, K. S., Hovding, G., Steen, V. M., Rodahl, E., Bruland, O., Houge, G.
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<strong>A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30573803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30573803</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30573803[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=30573803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41431-018-0323-z" target="_blank">Full Text</a>]
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<a id="Buchberg1989" class="mim-anchor"></a>
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Buchberg, A. M., Jenkins, N. A., Copeland, N. G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2676841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2676841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2676841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(89)90071-2" target="_blank">Full Text</a>]
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<a id="Cheung2013" class="mim-anchor"></a>
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Cheung, Y. H., Gayden, T., Campeau, P. M., LeDuc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23731537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23731537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23731537[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=23731537" 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.ajhg.2013.04.026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1128/mcb.8.8.3476-3486.1988" target="_blank">Full Text</a>]
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<a id="Daneman2010" class="mim-anchor"></a>
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Daneman, R., Zhou, L., Kebede, A. A., Barres, B. A.
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<strong>Pericytes are required for blood-brain barrier integrity during embryogenesis.</strong>
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Nature 468: 562-566, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20944625[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=20944625" 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/nature09513" target="_blank">Full Text</a>]
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Di Pasquale, G., Davidson, B. L., Stein, C. S., Martins, I., Scudiero, D., Monks, A., Chiorini, J. A.
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<strong>Identification of PDGFR as a receptor for AAV-5 transduction.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14502277" 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/10.1146/annurev.bi.57.070188.002303" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="46" class="mim-anchor"></a>
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<a id="Zand2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-M cGinn, D., Zackai, E. H.
|
|
<strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong>
|
|
Am. J. Med. Genet. 126A: 261-266, 2004.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054839" 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.20598" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="47" class="mim-anchor"></a>
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<a id="Zufferey2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zufferey, F., Hadj-Rabia, S., De Sandre-Giovannoli, A., Dufier, J.-L., Leheup, B., Schweitze, C., Bodemer, C., Cormier-Daire, V., Le Merrer, M.
|
|
<strong>Acro-osteolysis, keloid-like lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.</strong>
|
|
Am. J. Med. Genet. 161A: 1786-1791, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23720404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23720404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23720404" 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.35984" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/03/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/30/2025<br>Sonja A. Rasmussen - updated : 02/09/2024<br>Sonja A. Rasmussen - updated : 11/01/2023<br>Carol A. Bocchini - updated : 07/20/2021<br>Ada Hamosh - updated : 12/04/2019<br>Ada Hamosh - updated : 06/03/2016<br>Marla J. F. O'Neill - updated : 10/12/2015<br>Cassandra L. Kniffin - updated : 6/27/2013<br>Matthew B. Gross - updated : 1/8/2013<br>Cassandra L. Kniffin - updated : 1/8/2013<br>Ada Hamosh - updated : 2/3/2011<br>Ada Hamosh - updated : 1/21/2011<br>Patricia A. Hartz - updated : 3/12/2010<br>Marla J. F. O'Neill - updated : 6/10/2009<br>Patricia A. Hartz - updated : 4/16/2009<br>Ada Hamosh - updated : 1/29/2009<br>Victor A. McKusick - updated : 6/26/2006<br>Victor A. McKusick - updated : 11/19/2003<br>Ada Hamosh - updated : 9/23/2003<br>Victor A. McKusick - updated : 5/16/2003<br>Victor A. McKusick - updated : 9/27/2002<br>Victor A. McKusick - updated : 9/16/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001<br>Victor A. McKusick - updated : 3/4/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/25/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/03/2025
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</span>
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 01/30/2025<br>carol : 04/11/2024<br>carol : 02/14/2024<br>carol : 02/09/2024<br>carol : 02/09/2024<br>carol : 11/01/2023<br>carol : 07/20/2021<br>carol : 08/04/2020<br>alopez : 12/04/2019<br>carol : 11/21/2017<br>carol : 11/03/2017<br>carol : 08/24/2016<br>alopez : 06/03/2016<br>carol : 10/14/2015<br>alopez : 10/12/2015<br>tpirozzi : 7/8/2013<br>tpirozzi : 7/5/2013<br>tpirozzi : 7/3/2013<br>ckniffin : 6/27/2013<br>carol : 4/25/2013<br>mgross : 1/8/2013<br>carol : 1/8/2013<br>ckniffin : 1/8/2013<br>alopez : 2/7/2011<br>terry : 2/3/2011<br>alopez : 1/24/2011<br>terry : 1/21/2011<br>mgross : 3/15/2010<br>terry : 3/12/2010<br>wwang : 6/15/2009<br>wwang : 6/12/2009<br>terry : 6/10/2009<br>mgross : 4/16/2009<br>alopez : 3/11/2009<br>alopez : 2/6/2009<br>terry : 1/29/2009<br>wwang : 6/27/2006<br>terry : 6/26/2006<br>tkritzer : 11/19/2003<br>cwells : 11/18/2003<br>alopez : 10/16/2003<br>alopez : 9/23/2003<br>tkritzer : 5/29/2003<br>terry : 5/16/2003<br>carol : 9/27/2002<br>alopez : 9/27/2002<br>alopez : 9/27/2002<br>tkritzer : 9/25/2002<br>tkritzer : 9/16/2002<br>tkritzer : 9/16/2002<br>carol : 7/1/2002<br>carol : 4/19/2002<br>mgross : 3/12/2001<br>mark : 7/16/1997<br>jenny : 7/9/1997<br>jamie : 3/4/1997<br>jenny : 3/4/1997<br>terry : 2/24/1997<br>mark : 1/29/1996<br>terry : 1/29/1996<br>supermim : 3/16/1992<br>carol : 3/2/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 8/3/1989<br>root : 4/5/1989
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 173410
|
|
</span>
|
|
</h3>
|
|
</div>
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|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB
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</span>
|
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</h3>
|
|
</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>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PDGFR<br />
|
|
PDGFR1
|
|
</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-font">
|
|
Other entities represented in this entry:
|
|
</span>
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</p>
|
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</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PDGFRB/ETV6 FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
PDGFRB/D10S170 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/RABPT5 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/HIP1 FUSION GENE, INCLUDED<br />
|
|
PDGFRB/MYO18A FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: PDGFRB</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>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 1172898008, 776417008;
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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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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 5q32
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 5:150,113,839-150,155,845 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
5q32
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Ocular pterygium-digital keloid dysplasia syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
621091
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
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|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Basal ganglia calcification, idiopathic, 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615007
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Kosaki overgrowth syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616592
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Myofibromatosis, infantile, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
228550
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Premature aging syndrome, Penttinen type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601812
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The PDGFRB gene encodes platelet-derived growth factor receptor-beta, a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family (see, e.g., PDFGB, 190040). Activation of the receptor leads to activation of downstream signaling pathways, inducing cellular proliferation, differentiation, survival, and migration (summary by Nicolas et al., 2013). </p><p>See also PDGFRA (173490).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
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<p>Stimulation of cell proliferation of the receptor for PDGF (190040) has been implicated in atherogenesis and in cell transformation by the SIS oncogene. Escobedo et al. (1986) sequenced the receptor and cloned its gene.</p><p>Gronwald et al. (1988) cloned a cDNA coding for human PDGFR and studied its expression. The cDNA contained an open reading frame that coded for a protein of 1,106 amino acids. In transfectants, Gronwald et al. (1988) found that the PDGFR clone expressed a high affinity receptor specific for the BB isoform of PDGF, i.e., PDGF dimers composed of 2 B chains. There may be a separate class of PDGF receptor that binds both the homodimers and the heterodimer. </p><p>Claesson-Welsh et al. (1988) determined the structure of the human PDGF receptor as deduced from a full-length cDNA clone. The receptor expressed in Chinese hamster ovary cells was found to bind specifically to B-chain-containing PDGF molecules (190040). With the description of a second PDGF receptor (173490), it is necessary to use the symbol PDGFR1. Matsui et al. (1989) designated the second type of PDGFR as type alpha because PDGF binding was blocked by AA as well as BB isoforms of the ligand; the product of the earlier cloned PDGF receptor was termed type beta. </p><p>The PDFGRB gene is expressed in pericytes in the developing vascular walls of mouse brain (Lindahl et al., 1997). It is expressed particularly in the basal ganglia and dentate nucleus of the cerebellum (summary by Nicolas et al., 2013). </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By Southern blotting of DNA from somatic cell hybrids and by in situ hybridization, Francke et al. (1986) mapped the gene for PDGFR to 5q31-q32. The gene is flanked proximally by GMCSF (138960) and distally by FMS (164770). All 3 loci may be implicated in the 5q- syndrome (153550). See also Yarden et al. (1986). Buchberg et al. (1989) cited unpublished observations indicating that Pdgfr is located on mouse chromosome 18. </p><p>The Treacher Collins Syndrome Collaborative Group (1996) determined that the PDGFRB gene is located within approximately 900 kb proximal of the TCOF1 gene (606847). </p><p>The PDGFRB gene and the CSF1R gene (164770) encode proteins that belong to the same subfamily of receptor tyrosine kinases (Yarden and Ullrich, 1988). Both genes are located on 5q and are linked physically in a head-to-tail array with less than 500 bp between the polyadenylation signal of the PDGFRB gene and the transcription start point of the CSF1R gene (Roberts et al., 1988). (This finding is inconsistent with the conclusion that the PDGFRB gene is located at 5q31-q32 and the presumed assignment of CSF1R to 5q33.2-q33.3. One of the assignments must be in error.) Close linkage of the 2 genes has been demonstrated also in the mouse and How et al. (1996) demonstrated that in the pufferfish (Fugu rubripes) the 2 genes are linked tandemly in a head-to-tail array with 2.2 kb of intragenic sequence. </p><p>Gross (2013) mapped the PDGFRB gene to chromosome 5q32 based on an alignment of the PDGFRB sequence (GenBank BC032224) with the genomic sequence (GRCh37).</p>
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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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<p>Di Pasquale et al. (2003) characterized 43 cell lines as permissive or nonpermissive for adeno-associated virus type 5 (AAV-5) transduction and compared the gene expression profiles derived from cDNA microarray analyses of those cell lines. A statistically significant correlation was observed between expression of PDGFR-alpha (173490) and AAV-5 transduction. Subsequent experiments confirmed the role of PDGFR-alpha and PDGFR-beta as receptors for AAV-5. </p><p>Gilbertson and Clifford (2003) presented data confirming that PDGFRB is preferentially expressed in metastatic medulloblastoma (155255) and suggested that it may prove useful as a prognostic marker and as a therapeutic target for the disease. </p><p>Svegliati Baroni et al. (2006) presented evidence showing that stimulatory autoantibodies to PDGFR are a specific hallmark of scleroderma (181750). These antibodies appeared to trigger an intracellular loop that involves Ras (190020), ERK1 (601795)/ERK2 (176948), and reactive oxygen species (ROS) and that leads to increased type I collagen (120150) expression. The authors suggested that the biologic activity of PDGFR antibodies on fibroblasts has a causal role in the pathogenesis of the disease. Tan (2006) suggested that the profibrotic phenotype of fibroblasts in patients with scleroderma is maintained by at least 3 mechanisms involving TGFB1 (190180), PDGFR, and the Ras-ERK1/ERK2-ROS cascade. </p><p>Greenberg et al. (2008) defined a role for VEGF (192240) as an inhibitor of neovascularization on the basis of its capacity to disrupt vascular smooth muscle cell function. Specifically, under conditions of PDGF-mediated angiogenesis, VEGF ablates pericyte coverage of nascent vascular sprouts, leading to vessel destabilization. At the molecular level, VEGF-mediated activation of VEGFR2 (191306) suppresses PDGFRB signaling in vascular smooth muscle cells through the assembly of a receptor complex consisting of PDGFRB and VEGFR2. Inhibition of VEGFR2 not only prevents assembly of this receptor complex but also restores angiogenesis in tissues exposed to both VEGF and PDGF. Finally, genetic deletion of tumor cell VEGF disrupts PDGFRB/VEGFR2 complex formation and increases tumor vessel maturation. Greenberg et al. (2008) concluded that their findings underscored the importance of vascular smooth muscle cells/pericytes in neovascularization and revealed a dichotomous role for VEGF and VEGFR2 signaling as both a promoter of endothelial cell function and a negative regulator of vascular smooth muscle cells and vessel maturation. </p><p>Nazarian et al. (2010) showed that acquired resistance of BRAF(V600E) (164757.0001)-positive melanomas to PLX4032, a novel class I RAF-selective inhibitor, develops by mutually exclusive PDGFRB upregulation or NRAS (164790) mutations but not through secondary mutations in BRAF(V600E). Nazarian et al. (2010) used PLX4032-resistant sublines artificially derived from BRAF(V600E)-positive melanoma cell lines and validated key findings in PLX4032-resistant tumors and tumor-matched, short-term cultures from clinical trial patients. Induction of PDGFRB RNA, protein, and tyrosine phosphorylation emerged as a dominant feature of acquired PLX4032 resistance in a subset of melanoma sublines, patient-derived biopsies, and short-term cultures. PDGFRB-upregulated tumor cells had low activated RAS levels and, when treated with PLX4032, did not reactivate the MAPK (see 176872) pathway significantly. In another subset, high levels of activated NRAS resulting from mutations led to significant MAPK pathway reactivation upon PLX4032 treatment. Knockdown of PDGFRB or NRAS reduced growth of the respective PLX4032-resistant subsets. Overexpression of PDGFRB or mutated NRAS conferred PLX4032 resistance to PLX4032-sensitive parental cell lines. Importantly, Nazarian et al. (2010) showed that MAPK reactivation predicts MEK inhibitor sensitivity. Thus, Nazarian et al. (2010) concluded that melanomas escape BRAF(V600E) targeting not through secondary BRAF(V600E) mutations but via receptor tyrosine kinase (RTK)-mediated activation of alternative survival pathway(s) or activated RAS-mediated reactivation of the MAPK pathway, suggesting additional therapeutic strategies. </p><p>Lui et al. (2014) analyzed differential gene coexpression relationships between mouse and human and demonstrated that the growth factor PDGFD (609673) is specifically expressed by radial glia in human, but not mouse, corticogenesis. Lui et al. (2014) also showed that the expression domain of PDGFRB is evolutionarily divergent, with high expression in the germinal region of dorsal human neocortex but not in the mouse. Pharmacologic inhibition of PDGFD-PDGFRB signaling in slice culture prevents normal cell cycle progression of neocortical radial glia in human, but not mouse. Conversely, injection of recombinant PDGFD or ectopic expression of constitutively active PDGFRB in developing mouse neocortex increases the proportion of radial glia and their subventricular dispersion. The authors concluded that their findings highlighted the requirement of PDGFD-PDGFRB signaling for human neocortical development and suggested that local production of growth factors by radial glia supports the expanded germinal region and progenitor heterogeneity of species with large brains. </p><p>Lee et al. (2019) modeled the LMNA-related dilated cardiomyopathy (CMD1A; 115200) in vitro using patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). These cardiomyocytes were developed from a large family cohort, members of which carried a frameshift mutation in LMNA that led to early termination of translation. Electrophysiologic studies showed that the mutant iPSC-CMs displayed aberrant calcium homeostasis that led to arrhythmias at the single-cell level. Mechanistically, Lee et al. (2019) showed that the platelet-derived growth factor (PDGF) signaling pathway, in particular PDGFRB, is activated in mutant iPSC-CMs compared to isogenic control iPSC-CMs. Conversely, pharmacologic and molecular inhibition of the PDGF signaling pathway ameliorated the arrhythmic phenotypes of mutant iPSC-CMs in vitro. The findings of Lee et al. (2019) suggested that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM, and that PDGFRB is a potential therapeutic target. </p>
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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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<span class="mim-text-font">
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<p><strong><em>PDGFRB Fusion Genes</em></strong></p><p>
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Abe et al. (1997) reported that in a patient with acute myelogenous leukemia (AML; 601626), the TRIP11 gene (604505), which they called CEV14, was fused to the PDGFRB gene as a result of a t(5;14)(q33;q32) translocation. On initial diagnosis, this patient had exhibited a sole t(7;11) translocation, but the t(5;14)(q33;q32) translocation appeared during the relapse phase. The CEV14-PDGFRB chimeric gene consisted of the 5-prime region of CEV14 fused to the 3-prime region of PDGFRB. </p><p>Apperley et al. (2002) noted that a small proportion of patients with chronic myeloproliferative disorders have constitutive activation of the PDGFRB gene, resulting in many cases from a chromosome translocation such as t(5;12), which creates a fusion gene with ETV6 (600618). Fusions between PDGFRB and H4/D10S170 (601985), rabaptin-5 (RABPT5; 603616), and huntingtin-interacting protein-1 (HIP1; 601767) have also been reported in cases of chronic myeloproliferative disorders. The protein tyrosine kinase activity of PDGFRB, like that of ABL1 (189980) and KIT (164920), is inhibited by imatinib mesylate. The compound has been shown to be effective in the treatment of chronic myeloid leukemia (151410) and gastrointestinal stromal tumors (606764), which are caused by abnormalities in the ABL1 and KIT genes, respectively. Apperley et al. (2002) demonstrated that imatinib mesylate was also effective in the treatment of chronic myeloproliferative disorders with rearrangements of the PDGFRB gene. Three of 4 patients presented with leukocytosis and eosinophilia (see 131440), and their leukemia cells carried the ETV6-PDGFRB fusion gene. </p><p>Steer and Cross (2002) reviewed the acquired reciprocal chromosomal translocations that involve 5q31-q33 and are associated with a significant minority of patients with BCR-ABL-negative chronic myeloid leukemias. The most common of these fuses the ETV6 gene to the PDGFRB gene, but at the time of the review 4 additional partner genes were known: H4 (D10S170), HIP1, CEV14 (TRIP11), and rabaptin-5. Clinically, most patients present with a myeloproliferative disorder with eosinophilia, eosinophilic leukemia, or chronic myelomonocytic leukemia and thus fall into the broad category of myeloproliferative disorders/myelodysplastic syndromes (MPD/MDS). With the advent of targeted signal transduction therapy, patients with rearrangement of PDGFRB might be better classified as a distinct subgroup of MPD/MDS. </p><p>In 9 patients with BCR-ABL-negative chronic myeloproliferative disorders or MPD/MDS, Baxter et al. (2003) described translocations involving chromosome bands 5q31 or 5q33, resulting in fusion of the PDGFRB gene with other genes. They commented that several PDGFRB partner genes remained to be characterized. </p><p>Pierce et al. (2008) showed that expression of TEL/PDGFRB in murine myeloid FDCP-Mix cells prevented cell differentiation, increased cell survival, increased the level of phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3), and increased the expression and phosphorylation of Thoc5 (612733). Elevated Thoc5 expression also led to increased cell survival and PtdInsP3 levels, suggesting that the effects associated with TEL/PDGFRB expression were due, at least in part, to Thoc5 upregulation. </p><p>Walz et al. (2009) reported a 51-year-old male with imatinib-responsive eosinophilia associated with atypical myeloproliferative neoplasm who presented with a t(5;17)(q33-34;q11.2). The translocation resulted in the fusion of MYO18A (610067) intron 40 to PDGFRB intron 9, and RT-PCR confirmed in-frame fusion between MYO18A exon 40 and PDGFRB exon 10. The predicted 2,661-amino acid chimeric protein contains almost all of the MYO18A sequence fused to the PDGFRB transmembrane, WW-like, and kinase domains. RT-PCR also detected the reciprocal PDGFRB-MYO18A transcript, with PDGFRB exon 9 fused to MYO18A exon 41. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Idiopathic Basal Ganglia Calcification 4</em></strong></p><p>
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In affected members of a large 3-generation family with idiopathic basal ganglia calcification-4 (IBGC4; 615007), Nicolas et al. (2013) identified a heterozygous mutation in the PDGFRB gene (L658P; 173410.0001). The mutation, which was identified by exome sequencing of 2 affected individuals and confirmed by Sanger sequencing, segregated with the disorder in this family and was not found in several large exome databases. Many mutation carriers were asymptomatic, but 1 had late-onset parkinsonism and dementia, and several had depression or migraine. Nicolas et al. (2013) noted that animal models have shown a key role for Pdgfrb in the development of pericytes in vessels within the brain, and that pericytes have a key role in maintaining the integrity of the blood-brain barrier, which is hypothesized to be impaired in IBGC. In addition, the PDGFB-PDGFRB pathway appears to be involved in phosphate-induced calcifications in vascular smooth muscle cells by modulating expression of the phosphate transporter SLC20A1 (137570) (Villa-Bellosta et al., 2009); IBGC1 (213600) is caused by mutation in a related phosphate transporter SLC20A2 (158378). These findings suggest that cerebral phosphate homeostasis may play a role in vascular calcifications. </p><p><strong><em>Infantile Myofibromatosis 1</em></strong></p><p>
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In affected members of 4 unrelated families with infantile myofibromatosis-1 (IMF1; 228550), Cheung et al. (2013) identified the same heterozygous missense mutation in the PDGFRB gene (R561C; 173410.0003). The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. In addition, tumor tissue from 1 of the patients who carried a germline R561C mutation harbored an additional somatic PDGFRB mutation (N666K) that was predicted to be damaging. Structural modeling indicated that the R561C mutation occurs in the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. Modeling also predicted that the N666K mutation would favor an active kinase formation. In vitro functional studies were not performed. Sequencing the PDGFRB gene in 5 individuals with nonfamilial IMF did not identify any causative mutations. </p><p>Martignetti et al. (2013) identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. Another family with the disorder carried a different heterozygous mutation in the PDGFRB gene (P660T; 173410.0004). </p><p><strong><em>Kosaki Overgrowth Syndrome</em></strong></p><p>
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In 2 unrelated Japanese girls with overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, and neurologic deterioration (KOGS; 616592), Takenouchi et al. (2015) identified heterozygosity for a missense mutation in the PDGFRB gene (P584R; 173410.0005) that was de novo in each proband. </p><p>In 2 unrelated females with KOGS, Minatogawa et al. (2017) identified the same heterozygous missense mutation in the PDGFRB gene (W566R; 173410.0007). The mutation was identified by exome sequencing and confirmed by Sanger sequencing. </p><p>In a 10-year-old boy with KOGS, Gawlinski et al. (2018) identified de novo heterozygosity for the previously reported P584R mutation (173410.0005) in the PDGFRB gene. The mutation was identified by trio whole-exome sequencing. The patient had several characteristic features of KOGS, including typical facies, overgrowth, and tall stature, but also some progressive features not previously reported in this syndrome, suggesting expansion of the phenotype. </p><p><strong><em>Premature Aging Syndrome, Penttinen Type</em></strong></p><p>
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In 4 unrelated patients with the Penttinen type of premature aging syndrome (PENTT; 601812), Johnston et al. (2015) identified heterozygosity for a missense mutation in the PDGFRB gene (V665A; 173410.0006). The mutation arose de novo in the 2 probands for whom parental DNA was available. </p><p>In 2 unrelated patients with lipodystrophy, acroosteolysis, and severe vision impairment, reminiscent of a severe form of Penttinen syndrome, Bredrup et al. (2019) identified the same de novo missense mutation in the PDGFRB gene (N666S; 173410.0008). Functional studies using patient fibroblasts and transduced HeLa cells showed that the variant caused autophosphorylation of PDGFR-beta and induced phosphorylation of several downstream signaling proteins. Extensive apoptosis was seen in short-term patient-derived skin fibroblast cultures. Imatinib was a strong in vitro inhibitor of the mutant PDGFR-beta protein, suggesting an option for treatment of these patients. </p><p><strong><em>Ocular Pterygium-Digital Keloid Dysplasia Syndrome</em></strong></p><p>
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In 4 affected individuals over 3 generations of a Norwegian family with ocular pterygium-digital keloid dysplasia syndrome (OPDKD; 621091), Bredrup et al. (2021) identified heterozygosity for a missense mutation in the PDGFRB gene (N666Y; 173410.0010) that arose de novo in the mother and segregated with disease. The authors noted that overgrowth in this disorder affects body parts (cornea and digits) that typically have temperatures lower than 37 degrees Celsius, and functional analysis demonstrated that the N666Y variant is a temperature-sensitive activating substitution, with elevated phosphorylation levels at 37 degrees Celsius that increased even higher at 32 degrees Celsius (the average corneal temperature). This temperature effect did not occur with control PDGFRB or with the Penttinen syndrome-associated variant at the same PDGFRB residue, N666S. The authors suggested that altered signaling caused by physiologic temperature differences might be the underlying reason for the localization and organ-specific manifestations of N666 PDGFRB-related conditions. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between corneal vascularization (pterygium; see 178000) and mutation in the PDGFRB gene, see 173410.0009.</p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Klinghoffer et al. (2001) created 2 complementary lines of knockin mice in which the intracellular signaling domains of one PDGFR had been removed and replaced by those of the other PDGFR. While both lines demonstrated substantial rescue of normal development, substitution of the Pdgfrb signaling domains with those of Pdgfra resulted in varying degrees of vascular disease. </p><p>Armulik et al. (2010) demonstrated a direct role of pericytes at the blood-brain barrier in vivo. Using a set of adult viable pericyte-deficient mouse mutants, they showed that pericyte deficiency increases the permeability of the blood-brain barrier to water and a range of low molecular mass and high molecular mass tracers. The increased permeability occurs by endothelial transcytosis, a process that is rapidly arrested by the drug imatinib. Furthermore, Armulik et al. (2010) showed that pericytes function at the blood-brain barrier in at least 2 ways: by regulating blood-brain barrier-specific gene expression patterns in endothelial cells, and by inducing polarization of astrocyte end-feet surrounding central nervous system (CNS) blood vessels. Armulik et al. (2010) concluded that their results indicated a novel and critical role for pericytes in the integration of endothelial and astrocyte functions at the neurovascular unit, and in the regulation of the blood-brain barrier. </p><p>Daneman et al. (2010) independently showed that the blood-brain barrier is formed during embryogenesis as endothelial cells invade the CNS and pericytes are recruited to the nascent vessels, over a week before astrocyte generation. Analyzing mice with null and hypomorphic alleles of Pdgfrb, which have defects in pericyte generation, they demonstrated that pericytes are necessary for the formation of the blood-brain barrier, and that absolute pericyte coverage determines relative vascular permeability. Daneman et al. (2010) demonstrated that pericytes regulate functional aspects of the blood-brain barrier, including the formation of tight junctions and vesicle trafficking in CNS endothelial cells. Pericytes do not induce blood-brain barrier-specific gene expression in CNS endothelial cells, but inhibit the expression of molecules that increase vascular permeability and CNS immune cell infiltration. Daneman et al. (2010) concluded that pericyte-endothelial cell interactions are critical to regulate the blood-brain barrier during development, and that disruption of these interactions may lead to blood-brain barrier dysfunction and neuroinflammation during CNS injury and disease. </p>
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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>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4</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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PDGFRB, LEU658PRO
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<br />
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SNP: rs397509381,
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ClinVar: RCV000032788
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</span>
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<span class="mim-text-font">
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<p>In affected members of a large 3-generation family with idiopathic basal ganglia calcification-4 (IBGC4; 615007), Nicolas et al. (2013) identified a heterozygous 1973T-C transition in the PDGFRB gene, resulting in a leu658-to-pro (L658P) substitution at a highly conserved residue within the tyrosine kinase domain. The mutation, which was identified by exome sequencing of 2 affected individuals and confirmed by Sanger sequencing, segregated with the disorder in this family and was not found in several large exome databases. No functional studies were performed. Many mutation carriers were asymptomatic, but 1 had late-onset parkinsonism and dementia, and several had depression or migraine. </p>
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</span>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4</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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PDGFRB, ARG987TRP
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<br />
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SNP: rs397509382,
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gnomAD: rs397509382,
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ClinVar: RCV000032789, RCV002254271
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</span>
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<span class="mim-text-font">
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<p>In a 66-year-old woman with sporadic occurrence of IBGC4 (615007), Nicolas et al. (2013) identified a heterozygous 2959C-T transition in the PDGFRB gene, resulting in an arg987-to-trp (R987W) substitution at a highly conserved residue. The mutation was not found in multiple exome databases. No functional studies were performed. The patient presented with a mild cognitive dysexecutive syndrome and bradykinesia and pyramidal signs. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MYOFIBROMATOSIS, INFANTILE, 1</strong>
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</span>
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</h4>
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</div>
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PDGFRB, ARG561CYS
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<br />
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SNP: rs367543286,
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ClinVar: RCV000049264, RCV000390507, RCV000454370, RCV001197225, RCV001201357
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</span>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 4 unrelated families with infantile myofibromatosis-1 (IMF1; 228550), Cheung et al. (2013) identified a heterozygous c.1681C-T transition in the PDGFRB gene, resulting in an arg561-to-cys (R561C) substitution at a highly conserved residue. The families were of Chinese, European, French Canadian, and French origin, respectively. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing in the first 2 families, segregated with the phenotype in all families and was not found in several large control databases. Structural modeling indicated that the R561C mutation occurs in the cytoplasmic juxtamembrane (JM) region between the helical transmembrane segment and the kinase domain, and was predicted to compromise the autoinhibitory role of the JM domain, leading to increased kinase firing and promoting the formation of myofibromas in tissues with high PDGFRB signaling activity. In vitro functional studies were not performed. </p><p>Martignetti et al. (2013) identified a heterozygous R561C mutation in the PDGFRB gene in affected members from 7 unrelated families with autosomal dominant infantile myofibromatosis. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was not found in several large control databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 MYOFIBROMATOSIS, INFANTILE, 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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PDGFRB, PRO660THR ({dbSNP rs144050370})
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<br />
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SNP: rs144050370,
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gnomAD: rs144050370,
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ClinVar: RCV000049265, RCV001853035
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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 affected members of a family with autosomal dominant infantile myofibromatosis-1 (228550) originally reported by Zand et al. (2004), Martignetti et al. (2013) identified a heterozygous c.1978C-A transversion in exon 14 of the PDGFRB gene, resulting in a pro660-to-thr (P660T) substitution at a highly conserved residue in the tyrosine kinase domain. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder and was found at very low frequency (0.000077) in control databases (rs144050370). In vitro functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 KOSAKI OVERGROWTH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDGFRB, PRO584ARG
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<br />
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SNP: rs863224946,
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ClinVar: RCV000200957, RCV001335958
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated Japanese girls with overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, and neurologic deterioration (KOGS; 616592), Takenouchi et al. (2015) identified de novo heterozygosity for a c.1751C-G transversion (c.1751C-G, NM_002609) in exon 12 of the PDGFRB gene, resulting in a pro584-to-arg (P584R) substitution at a highly conserved residue within the juxtamembrane domain. One of the girls had a myofibroma removed from her mandible at age 8 years. Brain MRI showed extensive periventricular white matter lesions in both patients, but there was no evidence of intracranial calcification on CT scan. </p><p>In a 10-year-old boy with KOGS, Gawlinski et al. (2018) identified de novo heterozygosity for the P584R mutation in the PDGFRB gene. The mutation was identified by trio whole-exome sequencing. The patient had several characteristic features of KOGS, including typical facies, overgrowth, and tall stature, but also some progressive features such as premature aging and lipodystrophy beginning at age 8 years. At age 10 years, he did not have psychiatric manifestations, myofibroma, or neurologic deterioration. </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>.0006 PREMATURE AGING SYNDROME, PENTTINEN TYPE</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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PDGFRB, VAL665ALA
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<br />
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SNP: rs1554108211,
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ClinVar: RCV000585893
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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 4 unrelated patients with the Penttinen type of premature aging syndrome (PENTT; 601812), including the Finnish patient originally described by Penttinen et al. (1997) and a girl of North Vietnamese and Chinese ancestry previously reported by Zufferey et al. (2013), Johnston et al. (2015) identified heterozygosity for a c.1994T-C transition (c.1994T-C, NM_002609.3) in the PDGFRB gene, resulting in a val665-to-ala (V665A) substitution within the kinase domain. The mutation arose de novo in the 2 probands for whom parental DNA was available. Functional analysis in transfected HeLa cells demonstrated ligand-independent constitutive signaling through STAT3 (102582) and PLC-gamma (see 172420), indicating that V665A represents a gain-of-function alteration. </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>.0007 KOSAKI OVERGROWTH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDGFRB, TRP566ARG
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<br />
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SNP: rs1060499542,
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ClinVar: RCV000454367, RCV000497546, RCV000622279, RCV000779640, RCV001257994, RCV001541889
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 unrelated females with Kosaki overgrowth syndrome (KOGS; 616592), Minatogawa et al. (2017) identified heterozygosity for a c.1696T-C transition (c.1696T-C, NM_002609.3) in exon 12 of the PDGFRB gene, resulting in a trp566-to-arg (W566R) substitution in the juxtamembrane domain. The mutation was found by exome sequencing and confirmed by Sanger sequencing. The mutation occurred de novo in patient 1, and was not present in the unaffected mother and sister of patient 2. The variant was not present in the ExAC and gnomAD databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 PREMATURE AGING SYNDROME, PENTTINEN TYPE</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PDGFRB, ASN666SER
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<br />
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SNP: rs2113894766,
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|
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ClinVar: RCV002250183, RCV003128852, RCV003232565, RCV003754933
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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<div>
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|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with lipodystrophy, acroosteolysis, and severe vision impairment, reminiscent of a severe form of Penttinen syndrome (PENTT; 601812), Bredrup et al. (2019) identified a de novo c.1997A-G transition (c.1997A-G, NM_002609.3) in the PDGFRB gene, resulting in an asn666-to-ser (N666S) substitution. The variant was found by whole-genome and Sanger sequencing. Functional studies using patient fibroblasts and transduced HeLa cells showed that the variant caused autophosphorylation of PDGFR-beta and induced phosphorylation of several downstream signaling proteins. Extensive apoptosis was seen in short-term patient-derived skin fibroblast cultures. Imatinib was a strong in vitro inhibitor of the mutant PDGFR-beta protein, suggesting an option for treatment of these patients. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDGFRB, SER548TYR
|
|
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|
|
|
<br />
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|
|
|
|
|
|
|
ClinVar: RCV005054044
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>This variant is classified as a variant of unknown significance because its contribution to corneal vascularization (ocular pterygium; see 178000) has not been confirmed.</p><p>In a Saudi aunt, nephew, and niece with early-onset corneal vascularization, originally described by Islam and Wagoner (2001), Gladkauskas et al. (2023) identified heterozygosity for a c.1643C-A transversion (c.1643C-A, NM_002609.3) in exon 11 of the PDGFRB gene, resulting in a ser548-to-tyr (S548Y) substitution at a highly conserved residue within the transmembrane domain. The variant was not found in in-house Norwegian controls or in public variant databases. Analysis of transduced HeLa cells showed similar amounts of phosphorylated PDGFRB with the mutant or with wildtype PDGFRB; however, upon stimulation with ligand, mutant cells showed significantly increased activation compared to wildtype cells. The mutation status of the children's mother, an obligate carrier, who did not have pterygium but was legally blind due to central corneal scarring with peripheral vascularization, was not reported; nor was the mutation status of a sib with severe visual impairment of the left eye due to dense corneal opacity. The affected individuals in the Saudi family were said to be otherwise healthy, but the presence or absence of digital keloids or cutaneous fibromas was not reported. </p></div>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 OCULAR PTERYGIUM-DIGITAL KELOID DYSPLASIA SYNDROME (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PDGFRB, ASN666TYR
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV005054501
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In 4 affected individuals over 3 generations of a Norwegian family with ocular pterygium-digital keloid dysplasia syndrome (OPDKD; 621091), previously reported by Haugen and Bertelsen (1998), Bredrup et al. (2021) identified heterozygosity for a c.1996A-T transversion in the PDGFRB gene, resulting in an asn666-to-tyr (N666Y) substitution at a highly conserved residue in the RTK class III signature motif within the autoinhibitory domain. The mutation occurred de novo in the proband and segregated with disease in the family. Noting that overgrowth in this disorder affects body parts (cornea and digits) that typically have temperatures lower than 37 degrees Celsius, the authors studied the effect of physiologic temperature differences on PDGFRB autophosphorylation and phosphorylation of selected downstream proteins. Phosphorylation levels were higher in OPDKD fibroblasts and transduced HeLa cells than in control cells at 37 degrees Celsius, and phosphorylation levels with the N666Y mutant further greatly increased at 32 degrees Celsius (the average corneal temperature). This temperature effect did not occur with control PDGFRB or with the Penttinen syndrome-associated variant at the same PDGFRB residue, N666S (173410.0008). The authors suggested that temperature-dependent autoactivation accounts for the strikingly different clinical outcomes of substitutions at the N666 codon of PDGFRB. </p></div>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Leal et al. (1985)
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abe, A., Emi, N., Tanimoto, M., Terasaki, H., Marunouchi, T., Saito, H.
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<strong>Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.</strong>
|
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Blood 90: 4271-4277, 1997.
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[PubMed: 9373237]
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</li>
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<li>
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<p class="mim-text-font">
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Apperley, J. F., Gardembas, M., Melo, J. V., Russell-Jones, R., Bain, B. J., Baxter, E. J., Chase, A., Chessells, J. M., Colombat, M., Dearden, C. E., Dimitrijevic, S., Mahon, F.-X., Marin, D., Nikolova, Z., Olavarria, E., Silberman, S., Schultheis, B., Cross, N. C. P., Goldman, J. M.
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<strong>Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.</strong>
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New Eng. J. Med. 347: 481-487, 2002.
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[Full Text: https://doi.org/10.1056/NEJMoa020150]
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<li>
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<p class="mim-text-font">
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Armulik, A., Genove, G., Mae, M., Nisancioglu, M. H., Wallgard, E., Niaudet, C., He, L., Norlin, J., Lindblom, P., Strittmatter, K., Johansson, B. R., Betsholtz, C.
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<strong>Pericytes regulate the blood-brain barrier.</strong>
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Nature 468: 557-561, 2010.
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[PubMed: 20944627]
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[Full Text: https://doi.org/10.1038/nature09522]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Baxter, E. J., Kulkarni, S., Vizmanos, J.-L., Jaju, R., Martinelli, G., Testoni, N., Hughes, G., Salamanchuk, Z., Calasanz, M. J., Lahortiga, I., Pocock, C. F., Dang, R., Fidler, C., Wainscoat, J. S., Boultwood, J., Cross, N. C. P.
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<strong>Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders.</strong>
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Brit. J. Haemat. 120: 251-256, 2003.
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[PubMed: 12542482]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2003.04051.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bredrup, C., Cristea, I., Safieh, L. A., Di Maria, E., Gjertsen, B. T., Tveit, K. S., Thu, F., Bull, N., Edward, D. P., Hennekam, R. C. M., Hovding, G., Haugen, O. H., Houge, G., Rodahl, E., Bruland, O.
|
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<strong>Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.</strong>
|
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Hum. Molec. Genet. 30: 72-77, 2021.
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[PubMed: 33450762]
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[Full Text: https://doi.org/10.1093/hmg/ddab014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bredrup, C., Stokowy, T., McGaughran, J., Lee, S., Sapkota, D., Cristea, I., Xu, L., Tveit, K. S., Hovding, G., Steen, V. M., Rodahl, E., Bruland, O., Houge, G.
|
|
<strong>A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.</strong>
|
|
Europ. J. Hum. Genet. 27: 574-581, 2019.
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[PubMed: 30573803]
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[Full Text: https://doi.org/10.1038/s41431-018-0323-z]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Buchberg, A. M., Jenkins, N. A., Copeland, N. G.
|
|
<strong>Localization of the murine macrophage colony-stimulating factor gene to chromosome 3 using interspecific backcross analysis.</strong>
|
|
Genomics 5: 363-367, 1989.
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[PubMed: 2676841]
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[Full Text: https://doi.org/10.1016/0888-7543(89)90071-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Cheung, Y. H., Gayden, T., Campeau, P. M., LeDuc, C. A., Russo, D., Nguyen, V.-H., Guo, J., Qi, M., Guan, Y., Albrecht, S., Moroz, B., Eldin, K. W., and 13 others.
|
|
<strong>A recurrent PDGFRB mutation causes familial infantile myofibromatosis.</strong>
|
|
Am. J. Hum. Genet. 92: 996-1000, 2013.
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[PubMed: 23731537]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.026]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Claesson-Welsh, L., Eriksson, A., Moren, A., Severinsson, L., Ek, B., Ostman, A., Betsholtz, C., Heldin, C.-H.
|
|
<strong>cDNA cloning and expression of a human platelet-derived growth factor (PDGF) receptor specific for B-chain-containing PDGF molecules.</strong>
|
|
Molec. Cell. Biol. 8: 3476-3486, 1988.
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[PubMed: 2850496]
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Yarden, Y., Escobedo, J. A., Kuang, W.-J., Yang-Feng, T. L., Daniel, T. O., Tremble, P. M., Chen, E. Y., Ando, M. E., Harkins, R. N., Francke, U., Fried, V. A., Ullrich, A., Williams, L. T.
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Yarden, Y., Ullrich, A.
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Zand, D. J., Huff, D., Everman, D., Russell, K., Saitta, S., McDonald-M cGinn, D., Zackai, E. H.
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<strong>Autosomal dominant inheritance of infantile myofibromatosis.</strong>
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Zufferey, F., Hadj-Rabia, S., De Sandre-Giovannoli, A., Dufier, J.-L., Leheup, B., Schweitze, C., Bodemer, C., Cormier-Daire, V., Le Merrer, M.
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<strong>Acro-osteolysis, keloid-like lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.</strong>
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Marla J. F. O'Neill - updated : 02/03/2025<br>Marla J. F. O'Neill - updated : 01/30/2025<br>Sonja A. Rasmussen - updated : 02/09/2024<br>Sonja A. Rasmussen - updated : 11/01/2023<br>Carol A. Bocchini - updated : 07/20/2021<br>Ada Hamosh - updated : 12/04/2019<br>Ada Hamosh - updated : 06/03/2016<br>Marla J. F. O'Neill - updated : 10/12/2015<br>Cassandra L. Kniffin - updated : 6/27/2013<br>Matthew B. Gross - updated : 1/8/2013<br>Cassandra L. Kniffin - updated : 1/8/2013<br>Ada Hamosh - updated : 2/3/2011<br>Ada Hamosh - updated : 1/21/2011<br>Patricia A. Hartz - updated : 3/12/2010<br>Marla J. F. O'Neill - updated : 6/10/2009<br>Patricia A. Hartz - updated : 4/16/2009<br>Ada Hamosh - updated : 1/29/2009<br>Victor A. McKusick - updated : 6/26/2006<br>Victor A. McKusick - updated : 11/19/2003<br>Ada Hamosh - updated : 9/23/2003<br>Victor A. McKusick - updated : 5/16/2003<br>Victor A. McKusick - updated : 9/27/2002<br>Victor A. McKusick - updated : 9/16/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001<br>Victor A. McKusick - updated : 3/4/1997
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Victor A. McKusick : 6/25/1986
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