3917 lines
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Entry
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- *611060 - SET-BINDING PROTEIN 1; SETBP1
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- OMIM
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<p>
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<span class="h4">*611060</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="#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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611060">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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<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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<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=ENSG00000152217;t=ENST00000649279" 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=26040" 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=611060" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000152217;t=ENST00000649279" 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_001130110,NM_001379141,NM_001379142,NM_001410862,NM_015559,XM_024451149,XM_024451150,XM_024451151,XM_024451152,XM_024451154,XM_024451156,XM_024451157,XM_024451158,XM_047437475,XM_047437476,XM_047437477,XM_047437479,XM_047437480,XM_047437481" 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_015559" 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=611060" 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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<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=10224&isoform_id=10224_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/SETBP1" 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/5478318,38382764,119621846,148921581,194294554,194294556,294862494,929654423,1370473386,1370473388,1370473390,1370473392,1370473396,1370473400,1370473402,1370473404,1824100789,1824100795,2217316680,2217316685,2217316689,2217316693,2217316695,2217316699,2287478719,2462560229,2462560231,2462560233,2462560235,2462560237,2462560239,2462560241,2462560243,2462560245,2462560247,2462560249,2462560251,2462560253,2462560255,2462560257" 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/Q9Y6X0" 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 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=26040" 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=ENSG00000152217;t=ENST00000649279" 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=SETBP1" 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=SETBP1" 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+26040" 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/SETBP1" 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:26040" 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/26040" 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=chr18&hgg_gene=ENST00000649279.2&hgg_start=44680073&hgg_end=45068510&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15573" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:15573" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/setbp1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611060[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=611060[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/SETBP1/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/ENSG00000152217" 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=SETBP1" 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=SETBP1" 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=SETBP1" 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=SETBP1&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/PA37982" 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:15573" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1933199" 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/SETBP1#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:1933199" 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/26040/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=26040" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060526-72" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SETBP1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 18899000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611060
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SET-BINDING PROTEIN 1; SETBP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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SEB<br />
|
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KIAA0437
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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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>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
SETBP1/NUP98 FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SETBP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SETBP1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/18/150?start=-3&limit=10&highlight=150">18q12.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:44680073-45068510&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'})">18:44,680,073-45,068,510</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</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">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616078,269150" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/150?start=-3&limit=10&highlight=150">
|
|
18q12.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, autosomal dominant 29
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616078"> 616078 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Schinzel-Giedion midface retraction syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/269150"> 269150 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 4: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>] [<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455477">Ishikawa et al. (1997)</a> cloned SETBP1, which they designated KIAA0437. RT-PCR detected strong SETBP1 expression in all tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using the N-terminal 277 amino acids of SET (<a href="/entry/600960">600960</a>) in a yeast 2-hybrid screen of a HeLa cell cDNA library, followed by 5-prime RACE, <a href="#7" class="mim-tip-reference" title="Minakuchi, M., Kakazu, N., Gorrin-Rivas, M. J., Abe, T., Copeland, T. D., Ueda, K., Adachi, Y. <strong>Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.</strong> Europ. J. Biochem. 268: 1340-1351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231286</a>] [<a href="https://doi.org/10.1046/j.1432-1327.2001.02000.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231286">Minakuchi et al. (2001)</a> cloned SETBP1, which they called SEB. The transcript contains 2 polyadenylation signals, and the deduced protein contains 1,542 amino acids and has a calculated molecular mass of 170 kD. SETBP1 contains a central SKI (<a href="/entry/164780">164780</a>) homology region and a C-terminal SET-binding domain that is followed by 3 sequential PPLPPPPP repeats. SETBP1 also has 3 bipartite nuclear localization signals, 6 PEST sequences, 4 KxKHKxK repeats, 8 LSxxL repeats, and 10 PxxPS repeats. Northern blot analysis detected a major 5.8-kb transcript in all tissues and cell lines examined. Immunofluorescence analysis detected fluorescence-tagged and endogenous SETBP1 predominantly in nuclei of human cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231286" 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 radiation hybrid analysis, <a href="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 4: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>] [<a href="https://doi.org/10.1093/dnares/4.5.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9455477">Ishikawa et al. (1997)</a> mapped the SETBP1 gene to chromosome 18. Using FISH, <a href="#7" class="mim-tip-reference" title="Minakuchi, M., Kakazu, N., Gorrin-Rivas, M. J., Abe, T., Copeland, T. D., Ueda, K., Adachi, Y. <strong>Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.</strong> Europ. J. Biochem. 268: 1340-1351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231286</a>] [<a href="https://doi.org/10.1046/j.1432-1327.2001.02000.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231286">Minakuchi et al. (2001)</a> mapped the SETBP1 gene to chromosome 18q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11231286+9455477" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/26/2016."None>Gross (2016)</a> mapped the SETBP1 gene to chromosome 18q12.3 based on an alignment of the SETBP1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC062338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC062338</a>) with the genomic sequence (GRCh38).</p>
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<p>Using deletion and mutagenesis analysis, <a href="#7" class="mim-tip-reference" title="Minakuchi, M., Kakazu, N., Gorrin-Rivas, M. J., Abe, T., Copeland, T. D., Ueda, K., Adachi, Y. <strong>Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.</strong> Europ. J. Biochem. 268: 1340-1351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231286</a>] [<a href="https://doi.org/10.1046/j.1432-1327.2001.02000.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231286">Minakuchi et al. (2001)</a> determined that amino acids 182 to 223 of SET interacted with amino acids 1238 to 1434 of SETBP1. Immunoprecipitation analysis verified that SETBP1 interacted with endogenous SET in a human osteosarcoma cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Panagopoulos, I., Kerndrup, G., Carlsen, N., Strombeck, B., Isaksson, M., Johansson, B. <strong>Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).</strong> Brit. J. Haemat. 136: 294-296, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17233820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17233820</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2006.06410.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17233820">Panagopoulos et al. (2007)</a> described a fourth chimera involving the NUP98 gene (<a href="/entry/601021">601021</a>) in T-cell acute lymphoblastic leukemia (T-ALL). They described T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescence in situ hybridization showed NUP98 and SETBP1 fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested PCR did not amplify the reciprocal SETBP1/NUP98, suggesting that the NUP98/SETBP1 transcript is pathogenetically important. SETBP1 had not previously been implicated in leukemias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17233820" 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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In 4 unrelated individuals with Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>), <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> sequenced the candidate gene SETBP1 and identified de novo heterozygous mutations in all 4 individuals; using Sanger sequencing, they identified de novo heterozygous SETBP1 mutations in 8 of 9 additional individuals with Schinzel-Giedion syndrome (<a href="#0001">611060.0001</a>-<a href="#0005">611060.0005</a>). The 5 different mutations occurred within an 11-bp interval, involving 3 of 4 consecutive amino acids that are highly conserved throughout evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Thai male infants who fulfilled the diagnostic criteria for Schinzel-Giedion syndrome, <a href="#11" class="mim-tip-reference" title="Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V. <strong>SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter)</strong> Clin. Genet. 79: 391-393, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21371013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21371013</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01552.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21371013">Suphapeetiporn et al. (2011)</a> identified heterozygosity for the G870S mutation in the SETBP1 gene (<a href="#0005">611060.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21371013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Dominant Intellectual Developmental Disorder 29</em></strong></p><p>
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In a large study of copy number variation (CNV) in neurodevelopmental disease and genes potentially sensitive to dosage imbalance, <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified 4 nonsense mutations in SETBP1 (e.g., <a href="#0007">611060.0007</a>), 2 of which were confirmed to be de novo, as well as 4 frameshift mutations (e.g., <a href="#0006">611060.0006</a>), of which 1 was confirmed to be de novo. <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> created an expanded copy number variant (CNV) morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. They then resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Among these was SETBP1, haploinsufficiency of which was associated with intellectual disability and loss of expressive language. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutations in Myeloid Malignancies</em></strong></p><p>
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Using exome sequencing, <a href="#9" class="mim-tip-reference" title="Piazza, R., Valletta, S., Winkelmann, N., Redaelli, S., Spinelli, R., Pirola, A., Antolini, L., Mologni, L., Donadoni, C., Papaemmanuil, E., Kim, D.-W., and 16 others. <strong>Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.</strong> Nature Genet. 45: 18-24, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222956[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/ng.2495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222956">Piazza et al. (2013)</a> identified somatic alterations of SETBP1 encoding a gly870 to ser (G870S) alteration in 2 of 8 leukocyte samples from individuals with atypical CML (aCML; see <a href="/entry/608232">608232</a>). Targeted resequencing of 70 aCMLs, 574 diverse hematologic malignancies, and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval = 16-35%). Most mutations (92%) were located between codons 858 and 871 and were identical to changes seen in individuals with Schinzel-Giedion syndrome. Individuals with mutations had higher white blood cell counts (p = 0.008) and worse prognosis (p = 0.01). The G870S alteration abrogated a site for ubiquitination, and cells exogenously expressing this mutant exhibited higher amounts of SETBP1 and SET (<a href="/entry/600960">600960</a>) protein, lower PP2A (see <a href="/entry/176915">176915</a>) activity, and higher proliferation rates relative to those expressing the wildtype protein. <a href="#9" class="mim-tip-reference" title="Piazza, R., Valletta, S., Winkelmann, N., Redaelli, S., Spinelli, R., Pirola, A., Antolini, L., Mologni, L., Donadoni, C., Papaemmanuil, E., Kim, D.-W., and 16 others. <strong>Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.</strong> Nature Genet. 45: 18-24, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222956[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/ng.2495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23222956">Piazza et al. (2013)</a> concluded that mutated SETBP1 represents an oncogene present in aCML and closely related diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23222956" 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="Sakaguchi, H., Okuno, Y., Muramatsu, H., Yoshida, K., Shiraishi, Y., Takahashi, M., Kon, A., Sanada, M., Chiba, K., Tanaka, H., Makishima, H., Wang, X., and 10 others. <strong>Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.</strong> Nature Genet. 45: 937-941, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832011</a>] [<a href="https://doi.org/10.1038/ng.2698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23832011">Sakaguchi et al. (2013)</a> performed whole-exome sequencing for paired tumor-normal DNA from 13 individuals with juvenile myelomonocytic leukemia (JMML; <a href="/entry/607785">607785</a>) (cases), followed by deep sequencing of 8 target genes in 92 tumor samples. JMML was characterized by a paucity of gene mutations (0.85 nonsilent mutations per sample) with somatic or germline RAS pathway involvement in 82 cases (89%). The SETBP1 and JAK3 (<a href="/entry/600173">600173</a>) mutations were among common targets for secondary mutations. Mutations in JAK3 were often subclonal, and <a href="#10" class="mim-tip-reference" title="Sakaguchi, H., Okuno, Y., Muramatsu, H., Yoshida, K., Shiraishi, Y., Takahashi, M., Kon, A., Sanada, M., Chiba, K., Tanaka, H., Makishima, H., Wang, X., and 10 others. <strong>Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.</strong> Nature Genet. 45: 937-941, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832011</a>] [<a href="https://doi.org/10.1038/ng.2698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23832011">Sakaguchi et al. (2013)</a> hypothesized that they may be involved in the progression rather than the initiation of leukemia; these mutations associated with poor clinical outcomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23832011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., Gomez-Segui, I., Takahashi, M., and 18 others. <strong>Somatic SETBP1 mutations in myeloid malignancies.</strong> Nature Genet. 45: 942-946, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832012</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23832012[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/ng.2696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23832012">Makishima et al. (2013)</a> reported whole-exome sequencing of individuals with various myeloid malignancies and identified recurrent somatic mutations in SETBP1. Closely positioned somatic SETBP1 mutations encoding changes in asp868, ser869, gly870, ile871, and asp880, which match germline mutations in Schinzel-Giedion midface retraction syndrome (SGS; <a href="/entry/269150">269150</a>), were detected in 17% of secondary acute myeloid leukemias and 15% of chronic myelomonocytic leukemia (see <a href="/entry/607785">607785</a>) cases. Mutant cases were associated with advanced age and monosomy 7/deletion 7q (<a href="/entry/252270">252270</a>) constituting poor prognostic factors. Analysis of serially collected samples indicated that SETBP1 mutations were acquired during leukemic evolution. <a href="#6" class="mim-tip-reference" title="Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., Gomez-Segui, I., Takahashi, M., and 18 others. <strong>Somatic SETBP1 mutations in myeloid malignancies.</strong> Nature Genet. 45: 942-946, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832012</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23832012[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/ng.2696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23832012">Makishima et al. (2013)</a> concluded that somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation, and convey poor prognosis in myelodysplastic syndromes (see <a href="/entry/614286">614286</a>) and chronic myelomonocytic leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23832012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611060[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<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> rs267607038 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607038;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/rs267607038?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=rs267607038" 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=rs267607038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 unrelated patients with Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>), <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> identified a heterozygous 2612T-C transition in the SETBP1 gene, resulting in a substitution at a highly conserved residue, ile871-to-thr (I871T). The mutation was not found in the 8 parents from whom DNA was available, confirming the de novo nature of the mutation, and was not detected in 188 control chromosomes. One patient died at 3 months of age and another survived to 4.5 years; 2 patients were alive at the time of the report at 2 and 3 years of age, respectively; the age at death was unknown in the fifth patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" 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 Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>), <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> identified a de novo heterozygous 2602G-A transition in the SETBP1 gene, resulting in an asp868-to-asn (D868N) substitution at a highly conserved residue. The mutation was not found in any of the parents or in 188 control chromosomes. Two patients with this mutation died in their third year of life, and 2 were alive at 1 year and 1.75 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" 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">rs267607041 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607041;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=rs267607041" 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=rs267607041" 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=RCV000001088" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001088" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001088</a>
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<p>In a female infant with Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>) who died at 6 months of age, <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> identified a 2603A-C transversion in the SETBP1 gene, resulting in an asp868-to-ala (D868A) substitution at a highly conserved residue. The mutation was not detected in 188 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" 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">rs267607039 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607039;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=rs267607039" 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=rs267607039" 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=RCV000001089" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001089" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001089</a>
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<p>In a male infant with Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>) who died at 7 months of age, <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> identified a de novo 2609G-A transition in the SETBP1 gene, resulting in a gly870-to-asp (G870D) substitution at a highly conserved residue. The mutation was not found in the parents or in 188 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" 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 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607040 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607040;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/rs267607040?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=rs267607040" 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=rs267607040" 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=RCV000001090 OR RCV001659675 OR RCV004532270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001090, RCV001659675, RCV004532270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001090...</a>
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<p>In a female child with Schinzel-Giedion syndrome (<a href="/entry/269150">269150</a>) who died at 9.25 years of age, <a href="#3" class="mim-tip-reference" title="Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others. <strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong> Nature Genet. 42: 483-485, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>] [<a href="https://doi.org/10.1038/ng.581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20436468">Hoischen et al. (2010)</a> identified a de novo 2608G-A transition in the SETBP1 gene, resulting in a gly870-to-ser (G870S) substitution at a highly conserved residue. The mutation was not found in the parents or in 188 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Thai male infants who fulfilled the diagnostic criteria for Schinzel-Giedion syndrome proposed by <a href="#5" class="mim-tip-reference" title="Lehman, A. M., McFadden, D., Pugash, D., Sangha, K., Gibson, W. T., Patel, M. S. <strong>Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.</strong> Am. J. Med. Genet. 146A: 1299-1306, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18398855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18398855</a>] [<a href="https://doi.org/10.1002/ajmg.a.32277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18398855">Lehman et al. (2008)</a>, <a href="#11" class="mim-tip-reference" title="Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V. <strong>SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter)</strong> Clin. Genet. 79: 391-393, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21371013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21371013</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01552.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21371013">Suphapeetiporn et al. (2011)</a> identified heterozygosity for the G870S mutation in the SETBP1 gene. The mutation was not found in 100 control chromosomes of Thai ethnicity. The patients displayed some features not previously reported in the disorder, including very short epiglottis, vocal cord paralysis, radioulnar synostosis, and possible hypothyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21371013+18398855" 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="0006" class="mim-anchor"></a>
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</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">rs606231269 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231269;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=rs606231269" 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=rs606231269" 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=RCV000144900" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144900" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144900</a>
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<p>In a 14-year-old boy with a normal IQ but with speech delay, motor delay, and dysmorphic facial features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified a heterozygous de novo frameshift mutation in the SETBP1 gene, a 1-bp deletion at g.42531769 (GRCh37) resulting in an ile822-to-tyr (I822Y) substitution and a frameshift with a stop codon following 13 amino acids (Ile822TyrfsTer13). The patient's IQ was 76, which is in the borderline range, but was 'disharmonic.' The patient had speech impairment, with first words at 18 months but almost no speak until age 4 years. At age 14 he spoke but was hard to understand, with words in the wrong order and difficulty finding words. Growth parameters were within normal limits. Brain MRI was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</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">rs672601342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs672601342;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=rs672601342" 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=rs672601342" 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=RCV000144901" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144901" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144901</a>
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<p>In a 19-year-old male with severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> detected heterozygosity for a G-to-A transition in the SETBP1 gene (g.42530901G-A, GRCh37), resulting in a trp532-to-ter (W532X) substitution. This mutation was shown to be a de novo event. No seizures or EEG abnormalities were present, and brain MRI was normal. Growth parameters were within normal limits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</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">rs606231270 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231270;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=rs606231270" 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=rs606231270" 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=RCV000144902" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144902" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144902</a>
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<p>In a 17-year-old male with mild intellectual disability, social difficulties, speech and motor delays, and dysmorphic facial features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified a heterozygous de novo C-to-G transversion in the SETBP1 gene (g.42532337C-G, GRCh37), resulting in a ser1011-to-ter (S1011X) substitution. The patient had a normal EEG and normal brain MRI. Growth parameters were average. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" 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"><span class="text-primary">●</span> rs606231271 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231271;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/rs606231271?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=rs606231271" 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=rs606231271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 34-year-old female with severe intellectual disability, speech and motor delays, and dysmorphic facial features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified a single-basepair deletion in the SETBP1 gene (g.42281738del, GRCh37) resulting in an arg143-to-val substitution followed by a frameshift and premature termination 64 amino acids downstream (Arg143ValfsTer64). Hypotonia and obesity were present. The patient also had generalized seizures, with onset at 22 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" 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">rs606231272 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231272;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=rs606231272" 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=rs606231272" 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=RCV000144904 OR RCV000255831 OR RCV000760256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144904, RCV000255831, RCV000760256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144904...</a>
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<p>In a 36-year-old female with mild to moderate intellectual disability, ADHD, social difficulties, speech and motor delays, and dysmorphic facial features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified a C-to-T transition in the SETBP1 gene (g.42531178C-T, GRCh37), resulting in an arg625-to-ter (R625X) substitution. The patient had a normal brain MRI and normal growth parameters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" 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">rs606231273 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231273;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=rs606231273" 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=rs606231273" 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=RCV000144905 OR RCV000333880 OR RCV000763028 OR RCV004532637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144905, RCV000333880, RCV000763028, RCV004532637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144905...</a>
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<p>In a 9-year-old female with moderate to severe intellectual disability, absent speech, and dysmorphic features (MRD29; <a href="/entry/616078">616078</a>), <a href="#1" class="mim-tip-reference" title="Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others. <strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong> Nature Genet. 46: 1063-1071, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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/ng.3092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25217958">Coe et al. (2014)</a> identified a C-to-T transition in the SETBP1 gene (g.42531181C-T, GRCh37), resulting in an arg626-to-ter (R626X) substitution. The patient had short stature, but growth parameters were otherwise normal. There was no MRI evaluation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25217958" 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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Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others.
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<strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong>
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Nature Genet. 46: 1063-1071, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25217958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25217958</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25217958[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=25217958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/26/2016.
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Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others.
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<strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong>
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Nature Genet. 42: 483-485, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20436468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20436468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20436468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.581" target="_blank">Full Text</a>]
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Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9455477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9455477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9455477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lehman, A. M., McFadden, D., Pugash, D., Sangha, K., Gibson, W. T., Patel, M. S.
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<strong>Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.</strong>
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Am. J. Med. Genet. 146A: 1299-1306, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18398855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18398855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18398855" 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.32277" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Makishima2013" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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|
Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., Gomez-Segui, I., Takahashi, M., and 18 others.
|
|
<strong>Somatic SETBP1 mutations in myeloid malignancies.</strong>
|
|
Nature Genet. 45: 942-946, 2013.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832012</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23832012[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=23832012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/ng.2696" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Minakuchi2001" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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|
Minakuchi, M., Kakazu, N., Gorrin-Rivas, M. J., Abe, T., Copeland, T. D., Ueda, K., Adachi, Y.
|
|
<strong>Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.</strong>
|
|
Europ. J. Biochem. 268: 1340-1351, 2001.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231286" 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.1432-1327.2001.02000.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Panagopoulos2007" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Panagopoulos, I., Kerndrup, G., Carlsen, N., Strombeck, B., Isaksson, M., Johansson, B.
|
|
<strong>Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).</strong>
|
|
Brit. J. Haemat. 136: 294-296, 2007.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17233820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17233820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17233820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2006.06410.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Piazza2013" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Piazza, R., Valletta, S., Winkelmann, N., Redaelli, S., Spinelli, R., Pirola, A., Antolini, L., Mologni, L., Donadoni, C., Papaemmanuil, E., Kim, D.-W., and 16 others.
|
|
<strong>Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.</strong>
|
|
Nature Genet. 45: 18-24, 2013.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23222956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23222956</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23222956[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=23222956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2495" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Sakaguchi2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakaguchi, H., Okuno, Y., Muramatsu, H., Yoshida, K., Shiraishi, Y., Takahashi, M., Kon, A., Sanada, M., Chiba, K., Tanaka, H., Makishima, H., Wang, X., and 10 others.
|
|
<strong>Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.</strong>
|
|
Nature Genet. 45: 937-941, 2013.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23832011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23832011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23832011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2698" 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="11" class="mim-anchor"></a>
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<a id="Suphapeetiporn2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V.
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|
<strong>SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter)</strong>
|
|
Clin. Genet. 79: 391-393, 2011.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21371013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21371013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21371013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01552.x" 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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Matthew B. Gross - updated : 05/26/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/30/2014<br>Ada Hamosh - updated : 1/29/2014<br>Ada Hamosh - updated : 1/28/2014<br>Ada Hamosh - updated : 4/15/2013<br>Marla J. F. O'Neill - updated : 5/12/2011<br>Marla J. F. O'Neill - updated : 6/10/2010<br>Victor A. McKusick - updated : 6/8/2007
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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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Patricia A. Hartz : 5/23/2007
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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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alopez : 04/06/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/26/2016<br>mcolton : 2/16/2015<br>carol : 11/6/2014<br>alopez : 11/6/2014<br>alopez : 10/30/2014<br>alopez : 10/27/2014<br>alopez : 1/29/2014<br>alopez : 1/28/2014<br>alopez : 4/15/2013<br>wwang : 5/13/2011<br>terry : 5/12/2011<br>alopez : 6/10/2010<br>alopez : 6/12/2007<br>terry : 6/8/2007<br>mgross : 5/23/2007
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 611060
|
|
</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
SET-BINDING PROTEIN 1; SETBP1
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|
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
SEB<br />
|
|
KIAA0437
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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|
Other entities represented in this entry:
|
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</span>
|
|
</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
SETBP1/NUP98 FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SETBP1</em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 18899000;
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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>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 18q12.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 18:44,680,073-45,068,510 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
18q12.3
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, autosomal dominant 29
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
616078
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Schinzel-Giedion midface retraction syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
269150
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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|
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|
</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Ishikawa et al. (1997) cloned SETBP1, which they designated KIAA0437. RT-PCR detected strong SETBP1 expression in all tissues examined. </p><p>Using the N-terminal 277 amino acids of SET (600960) in a yeast 2-hybrid screen of a HeLa cell cDNA library, followed by 5-prime RACE, Minakuchi et al. (2001) cloned SETBP1, which they called SEB. The transcript contains 2 polyadenylation signals, and the deduced protein contains 1,542 amino acids and has a calculated molecular mass of 170 kD. SETBP1 contains a central SKI (164780) homology region and a C-terminal SET-binding domain that is followed by 3 sequential PPLPPPPP repeats. SETBP1 also has 3 bipartite nuclear localization signals, 6 PEST sequences, 4 KxKHKxK repeats, 8 LSxxL repeats, and 10 PxxPS repeats. Northern blot analysis detected a major 5.8-kb transcript in all tissues and cell lines examined. Immunofluorescence analysis detected fluorescence-tagged and endogenous SETBP1 predominantly in nuclei of human cell lines. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Ishikawa et al. (1997) mapped the SETBP1 gene to chromosome 18. Using FISH, Minakuchi et al. (2001) mapped the SETBP1 gene to chromosome 18q21.1. </p><p>Gross (2016) mapped the SETBP1 gene to chromosome 18q12.3 based on an alignment of the SETBP1 sequence (GenBank BC062338) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using deletion and mutagenesis analysis, Minakuchi et al. (2001) determined that amino acids 182 to 223 of SET interacted with amino acids 1238 to 1434 of SETBP1. Immunoprecipitation analysis verified that SETBP1 interacted with endogenous SET in a human osteosarcoma cell line. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Cytogenetics</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>Panagopoulos et al. (2007) described a fourth chimera involving the NUP98 gene (601021) in T-cell acute lymphoblastic leukemia (T-ALL). They described T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescence in situ hybridization showed NUP98 and SETBP1 fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested PCR did not amplify the reciprocal SETBP1/NUP98, suggesting that the NUP98/SETBP1 transcript is pathogenetically important. SETBP1 had not previously been implicated in leukemias. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Schinzel-Giedion Syndrome</em></strong></p><p>
|
|
In 4 unrelated individuals with Schinzel-Giedion syndrome (269150), Hoischen et al. (2010) sequenced the candidate gene SETBP1 and identified de novo heterozygous mutations in all 4 individuals; using Sanger sequencing, they identified de novo heterozygous SETBP1 mutations in 8 of 9 additional individuals with Schinzel-Giedion syndrome (611060.0001-611060.0005). The 5 different mutations occurred within an 11-bp interval, involving 3 of 4 consecutive amino acids that are highly conserved throughout evolution. </p><p>In 2 unrelated Thai male infants who fulfilled the diagnostic criteria for Schinzel-Giedion syndrome, Suphapeetiporn et al. (2011) identified heterozygosity for the G870S mutation in the SETBP1 gene (611060.0005). </p><p><strong><em>Autosomal Dominant Intellectual Developmental Disorder 29</em></strong></p><p>
|
|
In a large study of copy number variation (CNV) in neurodevelopmental disease and genes potentially sensitive to dosage imbalance, Coe et al. (2014) identified 4 nonsense mutations in SETBP1 (e.g., 611060.0007), 2 of which were confirmed to be de novo, as well as 4 frameshift mutations (e.g., 611060.0006), of which 1 was confirmed to be de novo. Coe et al. (2014) created an expanded copy number variant (CNV) morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. They then resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Among these was SETBP1, haploinsufficiency of which was associated with intellectual disability and loss of expressive language. </p><p><strong><em>Somatic Mutations in Myeloid Malignancies</em></strong></p><p>
|
|
Using exome sequencing, Piazza et al. (2013) identified somatic alterations of SETBP1 encoding a gly870 to ser (G870S) alteration in 2 of 8 leukocyte samples from individuals with atypical CML (aCML; see 608232). Targeted resequencing of 70 aCMLs, 574 diverse hematologic malignancies, and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval = 16-35%). Most mutations (92%) were located between codons 858 and 871 and were identical to changes seen in individuals with Schinzel-Giedion syndrome. Individuals with mutations had higher white blood cell counts (p = 0.008) and worse prognosis (p = 0.01). The G870S alteration abrogated a site for ubiquitination, and cells exogenously expressing this mutant exhibited higher amounts of SETBP1 and SET (600960) protein, lower PP2A (see 176915) activity, and higher proliferation rates relative to those expressing the wildtype protein. Piazza et al. (2013) concluded that mutated SETBP1 represents an oncogene present in aCML and closely related diseases. </p><p>Sakaguchi et al. (2013) performed whole-exome sequencing for paired tumor-normal DNA from 13 individuals with juvenile myelomonocytic leukemia (JMML; 607785) (cases), followed by deep sequencing of 8 target genes in 92 tumor samples. JMML was characterized by a paucity of gene mutations (0.85 nonsilent mutations per sample) with somatic or germline RAS pathway involvement in 82 cases (89%). The SETBP1 and JAK3 (600173) mutations were among common targets for secondary mutations. Mutations in JAK3 were often subclonal, and Sakaguchi et al. (2013) hypothesized that they may be involved in the progression rather than the initiation of leukemia; these mutations associated with poor clinical outcomes. </p><p>Makishima et al. (2013) reported whole-exome sequencing of individuals with various myeloid malignancies and identified recurrent somatic mutations in SETBP1. Closely positioned somatic SETBP1 mutations encoding changes in asp868, ser869, gly870, ile871, and asp880, which match germline mutations in Schinzel-Giedion midface retraction syndrome (SGS; 269150), were detected in 17% of secondary acute myeloid leukemias and 15% of chronic myelomonocytic leukemia (see 607785) cases. Mutant cases were associated with advanced age and monosomy 7/deletion 7q (252270) constituting poor prognostic factors. Analysis of serially collected samples indicated that SETBP1 mutations were acquired during leukemic evolution. Makishima et al. (2013) concluded that somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation, and convey poor prognosis in myelodysplastic syndromes (see 614286) and chronic myelomonocytic leukemia. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>11 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 SCHINZEL-GIEDION MIDFACE RETRACTION 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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SETBP1, ILE871THR
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<br />
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SNP: rs267607038,
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gnomAD: rs267607038,
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|
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ClinVar: RCV000001086, RCV000255245, RCV000855501, RCV001007919, RCV004532268
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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 5 unrelated patients with Schinzel-Giedion syndrome (269150), Hoischen et al. (2010) identified a heterozygous 2612T-C transition in the SETBP1 gene, resulting in a substitution at a highly conserved residue, ile871-to-thr (I871T). The mutation was not found in the 8 parents from whom DNA was available, confirming the de novo nature of the mutation, and was not detected in 188 control chromosomes. One patient died at 3 months of age and another survived to 4.5 years; 2 patients were alive at the time of the report at 2 and 3 years of age, respectively; the age at death was unknown in the fifth patient. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SETBP1, ASP868ASN
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<br />
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|
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SNP: rs267607042,
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|
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ClinVar: RCV000001087, RCV000727534, RCV000850599, RCV003147272, RCV004532269
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated patients with Schinzel-Giedion syndrome (269150), Hoischen et al. (2010) identified a de novo heterozygous 2602G-A transition in the SETBP1 gene, resulting in an asp868-to-asn (D868N) substitution at a highly conserved residue. The mutation was not found in any of the parents or in 188 control chromosomes. Two patients with this mutation died in their third year of life, and 2 were alive at 1 year and 1.75 years, respectively. </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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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SETBP1, ASP868ALA
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|
|
<br />
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|
|
SNP: rs267607041,
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|
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|
|
ClinVar: RCV000001088
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|
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|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with Schinzel-Giedion syndrome (269150) who died at 6 months of age, Hoischen et al. (2010) identified a 2603A-C transversion in the SETBP1 gene, resulting in an asp868-to-ala (D868A) substitution at a highly conserved residue. The mutation was not detected in 188 control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, GLY870ASP
|
|
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|
|
|
<br />
|
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|
|
SNP: rs267607039,
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|
|
|
|
|
|
|
ClinVar: RCV000001089
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with Schinzel-Giedion syndrome (269150) who died at 7 months of age, Hoischen et al. (2010) identified a de novo 2609G-A transition in the SETBP1 gene, resulting in a gly870-to-asp (G870D) substitution at a highly conserved residue. The mutation was not found in the parents or in 188 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, GLY870SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607040,
|
|
|
|
|
|
gnomAD: rs267607040,
|
|
|
|
|
|
ClinVar: RCV000001090, RCV001659675, RCV004532270
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female child with Schinzel-Giedion syndrome (269150) who died at 9.25 years of age, Hoischen et al. (2010) identified a de novo 2608G-A transition in the SETBP1 gene, resulting in a gly870-to-ser (G870S) substitution at a highly conserved residue. The mutation was not found in the parents or in 188 control chromosomes. </p><p>In 2 unrelated Thai male infants who fulfilled the diagnostic criteria for Schinzel-Giedion syndrome proposed by Lehman et al. (2008), Suphapeetiporn et al. (2011) identified heterozygosity for the G870S mutation in the SETBP1 gene. The mutation was not found in 100 control chromosomes of Thai ethnicity. The patients displayed some features not previously reported in the disorder, including very short epiglottis, vocal cord paralysis, radioulnar synostosis, and possible hypothyroidism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231269,
|
|
|
|
|
|
|
|
ClinVar: RCV000144900
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old boy with a normal IQ but with speech delay, motor delay, and dysmorphic facial features (MRD29; 616078), Coe et al. (2014) identified a heterozygous de novo frameshift mutation in the SETBP1 gene, a 1-bp deletion at g.42531769 (GRCh37) resulting in an ile822-to-tyr (I822Y) substitution and a frameshift with a stop codon following 13 amino acids (Ile822TyrfsTer13). The patient's IQ was 76, which is in the borderline range, but was 'disharmonic.' The patient had speech impairment, with first words at 18 months but almost no speak until age 4 years. At age 14 he spoke but was hard to understand, with words in the wrong order and difficulty finding words. Growth parameters were within normal limits. Brain MRI was normal. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, TRP532TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs672601342,
|
|
|
|
|
|
|
|
ClinVar: RCV000144901
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old male with severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features (MRD29; 616078), Coe et al. (2014) detected heterozygosity for a G-to-A transition in the SETBP1 gene (g.42530901G-A, GRCh37), resulting in a trp532-to-ter (W532X) substitution. This mutation was shown to be a de novo event. No seizures or EEG abnormalities were present, and brain MRI was normal. Growth parameters were within normal limits. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, SER1011TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231270,
|
|
|
|
|
|
|
|
ClinVar: RCV000144902
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old male with mild intellectual disability, social difficulties, speech and motor delays, and dysmorphic facial features (MRD29; 616078), Coe et al. (2014) identified a heterozygous de novo C-to-G transversion in the SETBP1 gene (g.42532337C-G, GRCh37), resulting in a ser1011-to-ter (S1011X) substitution. The patient had a normal EEG and normal brain MRI. Growth parameters were average. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231271,
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|
|
|
|
|
gnomAD: rs606231271,
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|
|
|
|
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ClinVar: RCV000144903
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old female with severe intellectual disability, speech and motor delays, and dysmorphic facial features (MRD29; 616078), Coe et al. (2014) identified a single-basepair deletion in the SETBP1 gene (g.42281738del, GRCh37) resulting in an arg143-to-val substitution followed by a frameshift and premature termination 64 amino acids downstream (Arg143ValfsTer64). Hypotonia and obesity were present. The patient also had generalized seizures, with onset at 22 years of age. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETBP1, ARG625TER
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<br />
|
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|
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SNP: rs606231272,
|
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|
|
|
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ClinVar: RCV000144904, RCV000255831, RCV000760256
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<p>In a 36-year-old female with mild to moderate intellectual disability, ADHD, social difficulties, speech and motor delays, and dysmorphic facial features (MRD29; 616078), Coe et al. (2014) identified a C-to-T transition in the SETBP1 gene (g.42531178C-T, GRCh37), resulting in an arg625-to-ter (R625X) substitution. The patient had a normal brain MRI and normal growth parameters. </p>
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<strong>.0011 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29</strong>
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SETBP1, ARG626TER
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<br />
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SNP: rs606231273,
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ClinVar: RCV000144905, RCV000333880, RCV000763028, RCV004532637
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<p>In a 9-year-old female with moderate to severe intellectual disability, absent speech, and dysmorphic features (MRD29; 616078), Coe et al. (2014) identified a C-to-T transition in the SETBP1 gene (g.42531181C-T, GRCh37), resulting in an arg626-to-ter (R626X) substitution. The patient had short stature, but growth parameters were otherwise normal. There was no MRI evaluation. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<ol>
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<li>
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<p class="mim-text-font">
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Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., Schuurs-Hoeijmakers, J. H., Hoischen, A., and 26 others.
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<strong>Refining analyses of copy number variation identifies specific genes associated with developmental delay.</strong>
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Nature Genet. 46: 1063-1071, 2014.
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[PubMed: 25217958]
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[Full Text: https://doi.org/10.1038/ng.3092]
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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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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/26/2016.
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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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Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., and 12 others.
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<strong>De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.</strong>
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Nature Genet. 42: 483-485, 2010.
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[PubMed: 20436468]
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[Full Text: https://doi.org/10.1038/ng.581]
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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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Ishikawa, K., Nagase, T., Nakajima, D., Seki, N., Ohira, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 4: 307-313, 1997.
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[PubMed: 9455477]
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[Full Text: https://doi.org/10.1093/dnares/4.5.307]
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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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Lehman, A. M., McFadden, D., Pugash, D., Sangha, K., Gibson, W. T., Patel, M. S.
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<strong>Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.</strong>
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Am. J. Med. Genet. 146A: 1299-1306, 2008.
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[PubMed: 18398855]
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[Full Text: https://doi.org/10.1002/ajmg.a.32277]
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</li>
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<li>
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<p class="mim-text-font">
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Makishima, H., Yoshida, K., Nguyen, N., Przychodzen, B., Sanada, M., Okuno, Y., Ng, K. P., Gudmundsson, K. O., Vishwakarma, B. A., Jerez, A., Gomez-Segui, I., Takahashi, M., and 18 others.
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<strong>Somatic SETBP1 mutations in myeloid malignancies.</strong>
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Nature Genet. 45: 942-946, 2013.
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[PubMed: 23832012]
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[Full Text: https://doi.org/10.1038/ng.2696]
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<li>
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<p class="mim-text-font">
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Minakuchi, M., Kakazu, N., Gorrin-Rivas, M. J., Abe, T., Copeland, T. D., Ueda, K., Adachi, Y.
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<strong>Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.</strong>
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Europ. J. Biochem. 268: 1340-1351, 2001.
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[PubMed: 11231286]
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[Full Text: https://doi.org/10.1046/j.1432-1327.2001.02000.x]
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Panagopoulos, I., Kerndrup, G., Carlsen, N., Strombeck, B., Isaksson, M., Johansson, B.
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<strong>Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).</strong>
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Brit. J. Haemat. 136: 294-296, 2007.
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[PubMed: 17233820]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2006.06410.x]
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<li>
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Piazza, R., Valletta, S., Winkelmann, N., Redaelli, S., Spinelli, R., Pirola, A., Antolini, L., Mologni, L., Donadoni, C., Papaemmanuil, E., Kim, D.-W., and 16 others.
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<strong>Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.</strong>
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Nature Genet. 45: 18-24, 2013.
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[PubMed: 23222956]
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[Full Text: https://doi.org/10.1038/ng.2495]
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</li>
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Sakaguchi, H., Okuno, Y., Muramatsu, H., Yoshida, K., Shiraishi, Y., Takahashi, M., Kon, A., Sanada, M., Chiba, K., Tanaka, H., Makishima, H., Wang, X., and 10 others.
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<strong>Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.</strong>
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Nature Genet. 45: 937-941, 2013.
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[PubMed: 23832011]
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[Full Text: https://doi.org/10.1038/ng.2698]
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</p>
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<li>
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<p class="mim-text-font">
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Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V.
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<strong>SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter)</strong>
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Clin. Genet. 79: 391-393, 2011.
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[PubMed: 21371013]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01552.x]
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</ol>
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/26/2016<br>Ada Hamosh - updated : 10/30/2014<br>Ada Hamosh - updated : 1/29/2014<br>Ada Hamosh - updated : 1/28/2014<br>Ada Hamosh - updated : 4/15/2013<br>Marla J. F. O'Neill - updated : 5/12/2011<br>Marla J. F. O'Neill - updated : 6/10/2010<br>Victor A. McKusick - updated : 6/8/2007
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Patricia A. Hartz : 5/23/2007
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alopez : 04/06/2022<br>mgross : 05/26/2016<br>mcolton : 2/16/2015<br>carol : 11/6/2014<br>alopez : 11/6/2014<br>alopez : 10/30/2014<br>alopez : 10/27/2014<br>alopez : 1/29/2014<br>alopez : 1/28/2014<br>alopez : 4/15/2013<br>wwang : 5/13/2011<br>terry : 5/12/2011<br>alopez : 6/10/2010<br>alopez : 6/12/2007<br>terry : 6/8/2007<br>mgross : 5/23/2007
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