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Entry
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- *606681 - NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606681</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606681">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165671;t=ENST00000439151" 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=64324" 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=606681" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165671;t=ENST00000439151" 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_001365684,NM_001409301,NM_001409302,NM_001409303,NM_001409304,NM_001409305,NM_001409306,NM_001409307,NM_001409308,NM_001409309,NM_022455,NM_172349" 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_022455" 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=606681" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=09455&isoform_id=09455_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/NSD1" 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/10438579,10438794,15213542,16549858,16552134,16751269,16755530,17530097,19923586,21749710,32469769,34191062,52545752,119605437,119605438,119605439,141795146,187956219,440575947,1317999496,1561851302,1811090937,2271089379,2271089386,2271089410,2271089416,2271089418,2271089420,2271089429,2271089443,2271089448,2271089726,2271089806,2298658623,2298658631,2298658654" 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/Q96L73" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=64324" 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=ENSG00000165671;t=ENST00000439151" 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=NSD1" 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=NSD1" 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+64324" 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/NSD1" 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:64324" 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/64324" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr5&hgg_gene=ENST00000439151.7&hgg_start=177131798&hgg_end=177300213&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14234" 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:14234" 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/nsd1" 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=606681[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=606681[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/NSD1/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/ENSG00000165671" 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=NSD1" 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=NSD1" 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=NSD1" 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="http://www.LOVD.nl/NSD1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NSD1&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/PA31790" 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:14234" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0039559.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1276545" 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/NSD1#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:1276545" 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/64324/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=64324" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003222;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-080519-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:606681" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64324" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=NSD1&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> 75968004<br />
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<strong>ICD10CM:</strong> Q87.3<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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606681
|
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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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NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1
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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>
|
|
<span class="mim-font">
|
|
NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1<br />
|
|
SET DOMAIN PROTEIN 1<br />
|
|
ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267
|
|
</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>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
NSD1/NUP98 FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NSD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NSD1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/800?start=-3&limit=10&highlight=800">5q35.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:177131798-177300213&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">5:177,131,798-177,300,213</a> </span>
|
|
</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 />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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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>The androgen receptor (AR; <a href="/entry/313700">313700</a>) is a member of the steroid receptor (SR) superfamily that interacts with DNA response elements. SRs may enhance or inhibit transcription by recruiting an array of coregulators, including NSD1, that interact with its N or C terminus.</p>
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<p><a href="#8" class="mim-tip-reference" title="Jaju, R. J., Haas, O. A., Neat, M., Harbott, J., Saha, V., Boultwood, J., Brown, J. M., Pirc-Danoewinata, H., Krings, B. W., Muller, U., Morris, S. W., Wainscoat, J. S., Kearney, L. <strong>A new recurrent translocation, t(5;11)(q35p15.5), associated with del(5q) in childhood acute myeloid leukemia.</strong> Blood 94: 773-780, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10397745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10397745</a>]" pmid="10397745">Jaju et al. (1999)</a> identified a recurrent cryptic translocation, t(5;11)(q35;p15.5), associated with a deletion of the long arm of chromosome 5 in de novo childhood acute myeloid leukemia (AML; see <a href="/entry/601626">601626</a>). <a href="#7" class="mim-tip-reference" title="Jaju, R. J., Fidler, C., Haas, O. A., Strickson, A. J., Watkins, F., Clark, K., Cross, N. C. P., Cheng, J.-F., Aplan, P. D., Kearney, L., Boultwood, J., Wainscoat, J. S. <strong>A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.</strong> Blood 98: 1264-1267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11493482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11493482</a>] [<a href="https://doi.org/10.1182/blood.v98.4.1264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11493482">Jaju et al. (2001)</a> confirmed that the chromosome 11 breakpoint gene is NUP98 (<a href="/entry/601021">601021</a>) and reported the cloning of its novel chromosome 5 fusion partner, NSD1. Nucleotide 1552 of NUP98 was fused in-frame to nucleotide 3504 of NSD1. The full coding sequence of NSD1 encodes a deduced 2,596-amino acid protein. The human and mouse NSD1 proteins share 85% sequence identity and have the same domain structure including a conserved SET domain, a SET domain-associated cysteine-rich domain (SAC domain), and 5 PHD fingers. Northern blot analysis detected wide expression of 2 NSD1 transcripts of 10.5 and 12.0 kb in hematologic and other tissues, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11493482+10397745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a yeast 2-hybrid screen of a brain cDNA library with the ligand-binding domains (LBDs) of AR and TR4 (NR2C2; <a href="/entry/601426">601426</a>) as bait, followed by 5-prime RACE on a testis cDNA library, <a href="#26" class="mim-tip-reference" title="Wang, X., Yeh, S., Wu, G., Hsu, C.-L., Wang, L., Chiang, T., Yang, Y., Guo, Y., Chang, C. <strong>Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.</strong> J. Biol. Chem. 276: 40417-40423, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11509567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11509567</a>] [<a href="https://doi.org/10.1074/jbc.M104765200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11509567">Wang et al. (2001)</a> isolated a cDNA encoding NSD1, which they called ARA267-alpha, encoding a. 2,427-amino acid protein with homology to other ARA coregulators. The protein possesses a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The 4 PHD finger regions contain a cys-rich region, a ring finger, and a zinc finger. <a href="#26" class="mim-tip-reference" title="Wang, X., Yeh, S., Wu, G., Hsu, C.-L., Wang, L., Chiang, T., Yang, Y., Guo, Y., Chang, C. <strong>Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.</strong> J. Biol. Chem. 276: 40417-40423, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11509567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11509567</a>] [<a href="https://doi.org/10.1074/jbc.M104765200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11509567">Wang et al. (2001)</a> also identified an ARA267-beta isoform encoding a 2,696-amino acid protein that is 83% homologous to mouse Nsd1 and has 279 N-terminal residues that merge into the eleventh residue of ARA267-alpha. Northern blot analysis revealed expression of 13- and 10-kb transcripts in multiple cell lines. Dot blot analysis detected expression in most tissues, with highest expression in lymph node. Mutation and binding analyses indicated that the N- and C-terminal domains of ARA267 can interact with full-length or C-terminal AR, but not with N-terminal AR, suggesting that the LBD and DNA-binding domain of AR may be responsible for the interaction. Luciferase analysis demonstrated that ARA267, like other ARA coregulators, has little or no influence on the interaction of the N and C termini of AR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11509567" 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="#11" class="mim-tip-reference" title="Kurotaki, N., Harada, N., Yoshiura, K., Sugano, S., Niikawa, N., Matsumoto, N. <strong>Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.</strong> Gene 279: 197-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733144</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00750-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733144">Kurotaki et al. (2001)</a> independently cloned the NSD1 gene and found that it is expressed in fetal/adult brain, skeletal muscle, kidney, spleen, and thymus, and faintly in lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11733144" 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>Functional analysis by <a href="#26" class="mim-tip-reference" title="Wang, X., Yeh, S., Wu, G., Hsu, C.-L., Wang, L., Chiang, T., Yang, Y., Guo, Y., Chang, C. <strong>Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.</strong> J. Biol. Chem. 276: 40417-40423, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11509567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11509567</a>] [<a href="https://doi.org/10.1074/jbc.M104765200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11509567">Wang et al. (2001)</a> showed that ARA267-alpha enhances AR transactivation, and this enhancement could be increased further in the presence of other ARA coregulators, such as ARA24 (RAN; <a href="/entry/601179">601179</a>) and PCAF (<a href="/entry/602303">602303</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11509567" 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="#27" class="mim-tip-reference" title="Weinberg, D. N., Papillon-Cavanagh, S., Chen, H., Yue, Y., Chen, X., Rajagopalan, K. N., Horth, C., McGuire, J. T., Xu, X., Nikbakht, H., Lemiesz, A. E., Marchione, D. M., and 13 others. <strong>The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.</strong> Nature 573: 281-286, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31485078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31485078</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31485078[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1534-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31485078">Weinberg et al. (2019)</a> reported that NSD1-mediated H3K36me2 is required for the recruitment of DNMT3A (<a href="/entry/602769">602769</a>) and maintenance DNA methylation at intergenic regions. Genomewide analysis showed that the binding and activity of DNMT3A colocalized with H3K36me2 at noncoding regions of euchromatin. Genetic ablation of Nsd1 and its paralog Nsd2 in mouse cells resulted in a redistribution of Dnmt3A to H3K36me3-modified gene bodies and a reduction in the methylation of intergenic DNA. Blood samples from patients with Sotos syndrome (<a href="/entry/117550">117550</a>) and NSD1-mutant tumors also exhibited hypomethylation of intergenic DNA. The PWWP domain of DNMT3A showed dual recognition of H3K36me2 and H3K36me3 in vitro, with a higher binding affinity towards H3K36me2 that was abrogated by Tatton-Brown-Rahman syndrome (TBRS; <a href="/entry/615879">615879</a>)-derived missense mutations. <a href="#27" class="mim-tip-reference" title="Weinberg, D. N., Papillon-Cavanagh, S., Chen, H., Yue, Y., Chen, X., Rajagopalan, K. N., Horth, C., McGuire, J. T., Xu, X., Nikbakht, H., Lemiesz, A. E., Marchione, D. M., and 13 others. <strong>The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.</strong> Nature 573: 281-286, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31485078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31485078</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31485078[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1534-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31485078">Weinberg et al. (2019)</a> concluded that their study revealed a trans-chromatin regulatory pathway that connects aberrant intergenic CpG methylation to human neoplastic and developmental overgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31485078" 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 genomewide profiling, <a href="#19" class="mim-tip-reference" title="Shirane, K., Miura, F., Ito, T., Lorincz, M. C. <strong>NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing.</strong> Nature Genet. 52: 1088-1098, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32929285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32929285</a>] [<a href="https://doi.org/10.1038/s41588-020-0689-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32929285">Shirane et al. (2020)</a> showed that Setd2 (<a href="/entry/612778">612778</a>) and H3K36me3 were dispensable for de novo DNA methylation (DNAme) in male mouse germline development. Instead, H3K36me2 was broadly correlated with DNAme. Nsd1 was required for DNAme in prenatal male germ cells and was essential for establishment of DNAme at H3K36me2-marked regions within paternal gametic differentially methylated regions. Furthermore, Nsd1 was required for survival of spermatogonia and spermatogenesis. Knockout of Nsd1 in prospermatogonia revealed that H3K36me2 deposited by Nsd1 impeded further deposition of H3K27me3 in prenatal male germline development in the absence of de novo DNAme, thereby safeguarding a subset of genes against H3K27me3-associated repression. In contrast, Setd2 was required not only for deposition of H3K36me3 in oocytes and de novo DNAme in transcribed regions, but also for deposition of the majority of H3K36me2 in oocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32929285" 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="#11" class="mim-tip-reference" title="Kurotaki, N., Harada, N., Yoshiura, K., Sugano, S., Niikawa, N., Matsumoto, N. <strong>Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.</strong> Gene 279: 197-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733144</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00750-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733144">Kurotaki et al. (2001)</a> determined that the NSD1 gene contains 23 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11733144" 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 FISH, <a href="#7" class="mim-tip-reference" title="Jaju, R. J., Fidler, C., Haas, O. A., Strickson, A. J., Watkins, F., Clark, K., Cross, N. C. P., Cheng, J.-F., Aplan, P. D., Kearney, L., Boultwood, J., Wainscoat, J. S. <strong>A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.</strong> Blood 98: 1264-1267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11493482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11493482</a>] [<a href="https://doi.org/10.1182/blood.v98.4.1264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11493482">Jaju et al. (2001)</a> mapped the NSD1 gene to chromosome 5q35. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11493482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Imaizumi, K., Kimura, J., Matsuo, M., Kurosawa, K., Masuno, M., Niikawa, N., Kuroki, Y. <strong>Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).</strong> Am. J. Med. Genet. 107: 58-60, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807869</a>] [<a href="https://doi.org/10.1002/ajmg.10080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807869">Imaizumi et al. (2002)</a> found a t(5;8)(q35;q24.1) translocation in a child with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>). <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified NSD1 as the gene disrupted by the 5q35 breakpoint. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11807869+11896389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified 4 different de novo point mutations in the NSD1 gene in 4 of 38 individuals with Sotos syndrome. These included 1 nonsense mutation, 2 frameshift mutations, and 1 splice site mutation. FISH analysis revealed a common 2.2-Mb deletion in 19 individuals and a smaller deletion in 1 individual from a total of 30 affected individuals whose metaphase or interphase cells were available. The deletions involved the entire NSD1 gene. <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> found that 77% of individuals with Sotos syndrome in their study had either deletions or point mutations in the NSD1 gene as the cause of Sotos syndrome. They concluded that haploinsufficiency of NSD1 is the major cause of Sotos syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11896389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> evaluated 75 patients with childhood overgrowth for intragenic mutations and large deletions in NSD1 of the type reported by <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> as the major cause of Sotos syndrome. Before molecular analyses, the patients were phenotypically scored into 4 groups: 37 patients comprising group 1 had a phenotype typical of Sotos syndrome; 13 patients comprising group 2 had a Sotos-like phenotype but with some atypical features; 7 patients comprising group 3 had been diagnosed with Weaver syndrome (WVS; <a href="/entry/277590">277590</a>); and 18 patients comprising group 4 had an overgrowth condition that was neither Sotos nor Weaver syndrome. <a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> detected 3 deletions and 32 mutations that were predicted to impair NSD1 functions. The truncating mutations were spread throughout NSD1, but there was evidence of clustering of missense mutations in highly conserved functional domains between exons 13 and 23. There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, as 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. Three of the 7 patients who had been diagnosed with Weaver syndrome had NSD1 mutations, all between amino acids 2142 and 2184 (see <a href="#0006">606681.0006</a>). <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> reviewed the phenotype of the 3 patients who carried a diagnosis of Weaver syndrome and in whom <a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> had identified mutations in the NSD1 gene, and on the basis of multiple pictures at different ages, reclassified 2 of them as having 'typical Sotos syndrome' and the third as 'possible Sotos syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12464997+15942875+11896389" 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="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a> analyzed the phenotypic findings of 5 patients with intragenic NSD1 mutations predicted to form a truncated NSD1 protein and in 21 patients with a fairly common deletion of approximately 2.2 Mb involving the entire NSD1 gene. Overgrowth and advanced maturation in infancy to early childhood, mental retardation, hypotonia, hyperreflexia, and characteristic minor anomalies were present in patients with mutations and deletions, whereas major anomalies in the central nervous system (agenesis or hypoplasia of the corpus callosum), cardiovascular system (patent ductus arteriosus and atrial septal defect), and urinary system (vesicoureteric reflux, hydronephrosis, and small kidney) were exclusively exhibited by patients with deletions. The results suggested that clinical features in Sotos syndrome can be classified into 2 major categories: those primarily caused by NSD1 haploinsufficiency and those primarily ascribed to some factors, such as the dosage effects of genes other than NSD1, involved in the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676901" 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="#22" class="mim-tip-reference" title="Turkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L. M., Hesse, V., Palanduz, S., Balg, S., Majewski, F., Fuchs, S., Zschieschang, P., Greiwe, M., Mennicke, K., Kreuz, F. R., Dehmel, H. J., Rodeck, B., Kunze, J., Tinschert, S., Mundlos, S., Horn, D. <strong>Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.</strong> Europ. J. Hum. Genet. 11: 858-865, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571271</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571271">Turkmen et al. (2003)</a> screened the NSD1 gene for mutations in 20 patients and 1 familial case with Sotos syndrome, 5 patients with Weaver syndrome, 6 patients with unclassified overgrowth and mental retardation, and 6 patients with macrocephaly and mental retardation. They identified 19 mutations, 17 previously undescribed, in 18 Sotos patients and the familial case (90%). The best correlation between the molecular and clinical findings was for facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay. <a href="#22" class="mim-tip-reference" title="Turkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L. M., Hesse, V., Palanduz, S., Balg, S., Majewski, F., Fuchs, S., Zschieschang, P., Greiwe, M., Mennicke, K., Kreuz, F. R., Dehmel, H. J., Rodeck, B., Kunze, J., Tinschert, S., Mundlos, S., Horn, D. <strong>Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.</strong> Europ. J. Hum. Genet. 11: 858-865, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571271</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571271">Turkmen et al. (2003)</a> found no mutations of the NSD1 gene in the patients with Weaver syndrome or other overgrowth phenotypes and concluded that the great majority of patients with Sotos syndrome have mutations in NSD1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571271" 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="Kurotaki, N., Harada, N., Shimokawa, O., Miyake, N., Kawame, H., Uetake, K., Makita, Y., Kondoh, T., Ogata, T., Hasegawa, T., Nagai, T., Ozaki, T., and 22 others. <strong>Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.</strong> Hum. Mutat. 22: 378-387, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517949</a>] [<a href="https://doi.org/10.1002/humu.10270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14517949">Kurotaki et al. (2003)</a> found 50 microdeletions (<a href="#0001">606681.0001</a>) among 112 cases of Sotos syndrome and suggested that low copy repeats (LCRs) possibly mediate the common deletion. As pointed out by <a href="#24" class="mim-tip-reference" title="Visser, R., Matsumoto, N. <strong>Genetics of Sotos syndrome.</strong> Curr. Opin. Pediat. 15: 598-606, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14631206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14631206</a>] [<a href="https://doi.org/10.1097/00008480-200312000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14631206">Visser and Matsumoto (2003)</a>, intragenic mutations prevail in Caucasian Sotos syndrome patients, whereas Japanese patients with this disorder more frequently harbor a microdeletion. Each deletion breakpoint is located in either of the 2 flanking LCRs. Most meiotic rearrangements seem to be of intrachromosomal origin and show a preference for the paternally derived chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14517949+14631206" 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 light of accumulated evidence, Sotos syndrome can be added to the list of genomic disorders (<a href="#18" class="mim-tip-reference" title="Shaw, C. J., Lupski, J. R. <strong>Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.</strong> Hum. Molec. Genet. 13 Spec. No. 1: R57-R64, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14764619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14764619</a>] [<a href="https://doi.org/10.1093/hmg/ddh073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14764619">Shaw and Lupski, 2004</a>), defined as pathologic conditions in which the gain, loss, or disruption of dosage-sensitive gene(s) results in a recognized phenotype (<a href="#14" class="mim-tip-reference" title="Lupski, J. R. <strong>Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.</strong> Trends Genet. 14: 417-422, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9820031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9820031</a>] [<a href="https://doi.org/10.1016/s0168-9525(98)01555-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9820031">Lupski, 1998</a>). Unequal rearrangement (nonallelic homologous recombination) between regions of high homology (i.e., LCRs) is the most common mechanism. <a href="#25" class="mim-tip-reference" title="Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., Matsumoto, N. <strong>Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.</strong> Am. J. Hum. Genet. 76: 52-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15580547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/426950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580547">Visser et al. (2005)</a> found a heterozygous inversion of the interval between the LCRs in all fathers of children carrying a deletion in the paternally derived chromosome. Segmental duplications of the primate genome played a major role in chromosomal evolution. Evolutionary studies by <a href="#25" class="mim-tip-reference" title="Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., Matsumoto, N. <strong>Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.</strong> Am. J. Hum. Genet. 76: 52-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15580547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/426950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580547">Visser et al. (2005)</a> showed that the duplication of the Sotos syndrome LCRs occurred 23.3 to 47.6 million years ago, before the divergence of Old World monkeys. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14764619+9820031+15580547" 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="#13" class="mim-tip-reference" title="Kurotaki, N., Stankiewicz, P., Wakui, K., Niikawa, N., Lupski, J. R. <strong>Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.</strong> Hum. Molec. Genet. 14: 535-542, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15640245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15640245</a>] [<a href="https://doi.org/10.1093/hmg/ddi050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15640245">Kurotaki et al. (2005)</a> characterized 2 complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1, which they designated proximal Sos-REP (Sos-PREP, approximately 390 kb) and distal Sos-REP (Sos-DREP, approximately 429 kb), respectively. Sos-PREP and Sos-DREP are composed of 6 subunits termed A to F. All but one homologous subunit was located in an inverted orientation, and the order of subunits was different between the 2 Sos-REPs. Only the subunit C-prime in Sos-DREP was oriented directly with respect to the subunit C in Sos-PREP. Among 8 Sotos patients with a common deletion, an approximately 550-kb junction fragment was detected that was generated by nonallelic homologous recombination (NAHR) between Sos-PREP C and Sos-DREP C-prime subunits. This patient-specific junction fragment was not present in 51 Japanese and non-Japanese controls. <a href="#13" class="mim-tip-reference" title="Kurotaki, N., Stankiewicz, P., Wakui, K., Niikawa, N., Lupski, J. R. <strong>Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.</strong> Hum. Molec. Genet. 14: 535-542, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15640245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15640245</a>] [<a href="https://doi.org/10.1093/hmg/ddi050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15640245">Kurotaki et al. (2005)</a> identified a 2.5-kb unequal crossover hotspot region in 6 of 9 analyzed Sotos patients with the common deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15640245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Melchior, L., Schwartz, M., Duno, M. <strong>dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.</strong> Ann. Hum. Genet. 69: 222-226, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15720303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15720303</a>] [<a href="https://doi.org/10.1046/j.1529-8817.2004.00150.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15720303">Melchior et al. (2005)</a> developed a denaturing high-performance liquid chromatography (DHPLC) screening protocol for mutation detection in NSD1 and identified 9 novel mutations among 33 patients, an efficiency of mutation detection comparable to that achieved by direct sequencing. In 2 patients, NSD1 deletions were identified. A summary of over 100 NSD1 mutations was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15720303" 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>Through analyses of 530 individuals with diverse phenotypes, <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing the NSD1 gene. Of 166 patients with NSD1 abnormalities for whom photographs were available, Sotos syndrome was clinically diagnosed in 164 (99%) independent of the molecular analysis, indicating that NSD1 aberrations are essentially specific to this condition. Analysis of 124 patients from the United Kingdom suggested that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> reviewed the clinical phenotype of 239 individuals with NSD1 abnormalities and observed that individuals with identical mutations had different phenotypes, that all features present in patients with microdeletions were also observed in patients with mutations, and that there was no correlation between deletion size and clinical phenotype. <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> identified only 13 familial cases and noted that familial cases were more likely than nonfamilial cases to carry missense mutations (p = 0.005), suggesting that the underlying NSD1 mutation mechanism in Sotos syndrome may influence reproductive fitness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15942875" 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="#23" class="mim-tip-reference" title="van Haelst, M. M., Hoogeboom, J. J. M., Baujat, G., Bruggenwirth, H. T., Van de Laar, I., Coleman, K., Rahman, N., Niermeijer, M. F., Drop, S. L. S., Scambler, P. J. <strong>Familial gigantism caused by an NSD1 mutation.</strong> Am. J. Med. Genet. 139A: 40-44, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222665</a>] [<a href="https://doi.org/10.1002/ajmg.a.30973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222665">Van Haelst et al. (2005)</a> reported a 3-generation family with gigantism (Sotos syndrome) in whom they identified a missense mutation in the NSD1 gene (C2202Y; <a href="#0013">606681.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222665" 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="Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, G., Della Monica, M., Fischetto, R., and 10 others. <strong>Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.</strong> Am. J. Med. Genet. 134A: 247-253, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15742365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15742365</a>] [<a href="https://doi.org/10.1002/ajmg.a.30492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15742365">Cecconi et al. (2005)</a> identified mutations in the NSD1 gene in 17 (71%) of 24 patients with classic Sotos syndrome. All patients with a mutant NSD1 genotype showed the typical facial gestalt; however, not all patients showed height above the 97th percentile, absolute macrocephaly, or advanced bone age. No genotype/phenotype correlations were observed. NSD1 mutations were not identified in 9 patients with a Sotos-like phenotype, 2 patients with Weaver syndrome, or 24 additional patients with nonspecific overgrowth, suggesting that mutations in the NSD1 gene are specific for Sotos syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15742365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kanemoto, N., Kanemoto, K., Nishimura, G., Kamoda, T., Visser, R., Shimokawa, O., Matsumoto, N. <strong>Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?</strong> Am. J. Med. Genet. 140A: 70-73, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16329110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16329110</a>] [<a href="https://doi.org/10.1002/ajmg.a.30776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16329110">Kanemoto et al. (2006)</a> reported a female infant with features of both Sotos syndrome and Nevo syndrome (see <a href="/entry/225400">225400</a>) in whom they identified a heterozygous 2.2-Mb deletion (<a href="#0001">606681.0001</a>) encompassing the NSD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16329110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Saugier-Veber, P., Bonnet, C., Afenjar, A., Drouin-Garraud, V., Coubes, C., Fehrenbach, S., Holder-Espinasse, M., Roume, J., Malan, V., Portnoi, M.-F., Jeanne, N., Baumann, C., and 9 others. <strong>Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.</strong> Hum. Mutat. 28: 1098-1107, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17565729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17565729</a>] [<a href="https://doi.org/10.1002/humu.20568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17565729">Saugier-Veber et al. (2007)</a> identified 69 different point mutations, including 48 novel mutations, in the NSD1 gene in 104 patients from 102 families with Sotos syndrome. Point mutations were detected in 80%, large deletions removing the entire NSD1 gene in 14%, and intragenic NSD1 rearrangements in 6%. The large deletions ranged in size from 1 to 4.5 Mb. Patients with truncating mutations had a more severe phenotype than those with nontruncating mutations. No NSD1 mutations were identified in 12 additional patients with a clinical diagnosis of Sotos syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17565729" 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="#21" class="mim-tip-reference" title="Tatton-Brown, K., Rahman, N. <strong>The NSD1 and EZH2 overgrowth genes, similarities and differences.</strong> Am. J. Med. Genet. 163C: 86-91, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23592277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23592277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23592277[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/10.1002/ajmg.c.31359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23592277">Tatton-Brown and Rahman (2013)</a> reviewed the similarities and differences between the NSD1 and EZH2 (<a href="/entry/601573">601573</a>) genes, which cause the overgrowth Sotos and Weaver syndromes, respectively. The authors noted that although the NSD1-associated phenotype has been well characterized with many hundreds of reported cases, it is not yet understood what factors determine the variability of the Sotos syndrome phenotype, in which unrelated individuals with the same recurrent mutation exhibit differing degrees of intellectual disability and frequencies of associated medical issues such as cardiac and renal anomalies, seizures, and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23592277" 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 7 patients with Sotos syndrome with hyperinsulinemic hypoglycemia with persistence beyond a year of age in at least 3 patients, <a href="#4" class="mim-tip-reference" title="Grand, K., Gonzalez-Gandolfi, C., Ackermann, A. M., Aljeaid, D., Bedoukian, E., Bird, L. M., De Leon, D. D., Diaz, J., Hopkin, R. J., Kadakia, S. P., Keena, B., Klein, K. O., and 11 others. <strong>Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.</strong> Am. J. Med. Genet. 179A: 542-551, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30719864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30719864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30719864[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/10.1002/ajmg.a.61062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30719864">Grand et al. (2019)</a> identified point mutations in the NSD1 gene. The mutations included 4 nonsense, 3 missense, and 1 frameshift. The authors noted that these patients disprove the hypothesis that hyperinsulinemic hypoglycemia is due to deletion of nearby genes in the 5q35 deleted region and suggest a role for NSD1 in glucose homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30719864" 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 19 of 30 Japanese individuals with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified a 2.2-Mb deletion on chromosome 5q35 leading to complete deletion of the NSD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11896389" 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>Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is the major cause of Sotos syndrome. The common microdeletion of approximately 2.2 Mb encompasses the whole NSD1 gene and neighboring genes and is flanked by low-copy repeats (LCRs). <a href="#25" class="mim-tip-reference" title="Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., Matsumoto, N. <strong>Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.</strong> Am. J. Hum. Genet. 76: 52-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15580547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/426950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580547">Visser et al. (2005)</a> identified a 3.0-kb major recombination hotspot within these LCRs, in which they mapped deletion breakpoints in 78.7% (37/47) of patients with Sotos syndrome who carried the common microdeletion. They were able to refine the size of the deletion to 1.9 Mb. Sequencing of breakpoint fragments from all 37 patients revealed junctions between a segment of the proximal LCR (PLCR-B) and the corresponding region of the distal LCR (DLCR-2B). <a href="#25" class="mim-tip-reference" title="Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., Matsumoto, N. <strong>Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.</strong> Am. J. Hum. Genet. 76: 52-67, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15580547[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/426950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15580547">Visser et al. (2005)</a> found that PLCR-B and DLCR-2B are the only directly oriented regions, whereas the remaining regions of the PLCR and DLCR are in inverted orientation. PLCR and DLCR showed high overall homology (approximately 98.5%), with an increased sequence similarity (approximately 99.4%) within the 3.0-kb breakpoint cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with features of both Sotos syndrome and Nevo syndrome (<a href="/entry/225400">225400</a>), <a href="#9" class="mim-tip-reference" title="Kanemoto, N., Kanemoto, K., Nishimura, G., Kamoda, T., Visser, R., Shimokawa, O., Matsumoto, N. <strong>Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?</strong> Am. J. Med. Genet. 140A: 70-73, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16329110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16329110</a>] [<a href="https://doi.org/10.1002/ajmg.a.30776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16329110">Kanemoto et al. (2006)</a> identified heterozygosity for a 2.2-Mb deletion encompassing the NSD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16329110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with sporadic Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified a C-to-G transversion at nucleotide 1310 leading to a ser437-to-ter substitution at codon 437 on 1 allele of the NSD1 gene. This patient with the S437X nonsense mutation was 1 of 5 in whom the phenotype was analyzed by <a href="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12676901+11896389" 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">rs1562213381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562213381;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=rs1562213381" 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=rs1562213381" 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 patient with sporadic Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified a deletion of a single basepair at nucleotide 3536 of the NSD1 gene. This patient was 1 of 5 in whom the phenotype was analyzed by <a href="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12676901+11896389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with sporadic Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified an insertion of a thymidine at nucleotide 5998 in the NSD1 gene. This patient was 1 of 5 in whom the phenotype was analyzed by <a href="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12676901+11896389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with sporadic Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#12" class="mim-tip-reference" title="Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., and 11 others. <strong>Haploinsufficiency of NSD1 causes Sotos syndrome.</strong> Nature Genet. 30: 365-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11896389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11896389</a>] [<a href="https://doi.org/10.1038/ng863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11896389">Kurotaki et al. (2002)</a> identified a splice site mutation at the splice donor site of intron 20 leading to a premature termination codon only 9 amino acids thereafter. This patient was 1 of 5 in whom the phenotype was analyzed by <a href="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12676901+11896389" 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> rs121908068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908068;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/rs121908068?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=rs121908068" 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=rs121908068" 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 patient originally diagnosed with Weaver syndrome, <a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> identified a heterozygous mutation in exon 22 of the NSD1 gene, resulting in a his2143-to-glu substitution. The patient was later diagnosed with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>) by <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> after review of patient photographs at different ages and the mutation was corrected to his2143-to-gln (H2143Q). See online Table 2 in <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12464997+15942875" 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">rs121908069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908069;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=rs121908069" 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=rs121908069" 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 patient originally diagnosed with Weaver syndrome, <a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> identified a heterozygous mutation in exon 23 of the NSD1 gene, resulting in a cys2183-to-ser (C2183S) substitution. The patient was later diagnosed with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>) by <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> after review of patient photographs at different ages. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12464997+15942875" 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">rs864309639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309639;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=rs864309639" 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=rs864309639" 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 patient originally diagnosed with Weaver syndrome, <a href="#3" class="mim-tip-reference" title="Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N. <strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong> Am. J. Hum. Genet. 72: 132-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12464997">Douglas et al. (2003)</a> identified a heterozygous 1-bp insertion (6450insC) in exon 22 of the NSD1, resulting in a frameshift and a termination at codon 2165. The patient was later diagnosed with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>) by <a href="#20" class="mim-tip-reference" title="Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N. <strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong> Am. J. Hum. Genet. 77: 193-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/432082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942875">Tatton-Brown et al. (2005)</a> after review of patient photographs at different ages. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12464997+15942875" 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">rs1562099585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562099585;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=rs1562099585" 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=rs1562099585" 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=RCV003231084" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003231084" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003231084</a>
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<p>In a Finnish father and son with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#5" class="mim-tip-reference" title="Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M., Matsumoto, N. <strong>Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter)</strong> J. Med. Genet. 40: 51-54, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525543</a>] [<a href="https://doi.org/10.1136/jmg.40.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525543">Hoglund et al. (2003)</a> identified a heterozygous 1-bp deletion (896delC) in exon 2 of the NSD1 gene, resulting in a truncation of 88% of the predicted polypeptide. The mutation was not detected in the unaffected mother or in 94 unrelated Finnish individuals. <a href="#5" class="mim-tip-reference" title="Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M., Matsumoto, N. <strong>Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter)</strong> J. Med. Genet. 40: 51-54, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525543</a>] [<a href="https://doi.org/10.1136/jmg.40.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525543">Hoglund et al. (2003)</a> noted that the findings in this family confirm that familial Sotos syndrome is caused by mutation in the NSD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525543" 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">rs121908070 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908070;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=rs121908070" 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=rs121908070" 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=RCV000487238 OR RCV003231085" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000487238, RCV003231085" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000487238...</a>
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<p>One of the 5 patients with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>) and intragenic mutations of the NSD1 gene studied by <a href="#16" class="mim-tip-reference" title="Nagai, T., Matsumoto, N., Kurotaki, N., Harada, N., Niikawa, N., Ogata, T., Imaizumi, K., Kurosawa, K., Kondoh, T., Ohashi, H., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y., Naritomi, K. <strong>Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.</strong> J. Med. Genet. 40: 285-289, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676901</a>] [<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676901">Nagai et al. (2003)</a> had a novel nonsense mutation in exon 7 of the NSD1 gene: 3958C-T, arg1320 to stop (R1320X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676901" 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">rs1562269320 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562269320;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=rs1562269320" 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=rs1562269320" 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=RCV003231086" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003231086" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003231086</a>
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<p>In a patient (PB) with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), who had a clinical diagnosis of Beckwith-Wiedemann syndrome (<a href="/entry/130650">130650</a>), <a href="#1" class="mim-tip-reference" title="Baujat, G., Rio, M., Rossignol, S., Sanlaville, D., Lyonnet, S., Le Merrer, M., Munnich, A., Gicquel, C., Cormier-Daire, V., Colleaux, L. <strong>Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.</strong> Am. J. Hum. Genet. 74: 715-720, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14997421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14997421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14997421[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14997421">Baujat et al. (2004)</a> identified a de novo 1-bp insertion, 4976insG, in exon 14 of the NSD1 gene. Features consistent with BWS included large umbilical hernia and left-sided hemihypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14997421" 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">rs1562312238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562312238;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=rs1562312238" 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=rs1562312238" 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=RCV003231087" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003231087" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003231087</a>
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<p>In a patient (BA) with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), who had a clinical diagnosis of Beckwith-Wiedemann syndrome (<a href="/entry/130650">130650</a>), <a href="#1" class="mim-tip-reference" title="Baujat, G., Rio, M., Rossignol, S., Sanlaville, D., Lyonnet, S., Le Merrer, M., Munnich, A., Gicquel, C., Cormier-Daire, V., Colleaux, L. <strong>Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.</strong> Am. J. Hum. Genet. 74: 715-720, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14997421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14997421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14997421[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14997421">Baujat et al. (2004)</a> identified a de novo 4-bp deletion, 7968delGACA, in exon 23 of the NSD1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14997421" 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">rs121908071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908071;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=rs121908071" 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=rs121908071" 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=RCV001813734 OR RCV003231088" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001813734, RCV003231088" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001813734...</a>
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<p>In affected members of a 3-generation family with Sotos syndrome (SOTOS; <a href="/entry/117550">117550</a>), <a href="#23" class="mim-tip-reference" title="van Haelst, M. M., Hoogeboom, J. J. M., Baujat, G., Bruggenwirth, H. T., Van de Laar, I., Coleman, K., Rahman, N., Niermeijer, M. F., Drop, S. L. S., Scambler, P. J. <strong>Familial gigantism caused by an NSD1 mutation.</strong> Am. J. Med. Genet. 139A: 40-44, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222665</a>] [<a href="https://doi.org/10.1002/ajmg.a.30973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222665">van Haelst et al. (2005)</a> identified a 6605G-A transition in the NSD1 gene, resulting in a cys2202-to-tyr (C2202Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Baujat, G., Rio, M., Rossignol, S., Sanlaville, D., Lyonnet, S., Le Merrer, M., Munnich, A., Gicquel, C., Cormier-Daire, V., Colleaux, L.
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<strong>Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.</strong>
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Am. J. Hum. Genet. 74: 715-720, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14997421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14997421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14997421[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=14997421" 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/10.1086/383093" target="_blank">Full Text</a>]
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Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, G., Della Monica, M., Fischetto, R., and 10 others.
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<strong>Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.</strong>
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Am. J. Med. Genet. 134A: 247-253, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15742365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15742365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15742365" 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.30492" target="_blank">Full Text</a>]
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<strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12464997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12464997</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12464997[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=12464997" 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/10.1086/345647" target="_blank">Full Text</a>]
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<div class="">
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Grand, K., Gonzalez-Gandolfi, C., Ackermann, A. M., Aljeaid, D., Bedoukian, E., Bird, L. M., De Leon, D. D., Diaz, J., Hopkin, R. J., Kadakia, S. P., Keena, B., Klein, K. O., and 11 others.
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<strong>Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30719864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30719864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30719864[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=30719864" 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.61062" target="_blank">Full Text</a>]
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<strong>Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter)</strong>
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[<a href="https://doi.org/10.1136/jmg.40.1.51" target="_blank">Full Text</a>]
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<strong>Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).</strong>
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[<a href="https://doi.org/10.1002/ajmg.10080" target="_blank">Full Text</a>]
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<strong>A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.</strong>
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[<a href="https://doi.org/10.1182/blood.v98.4.1264" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30776" target="_blank">Full Text</a>]
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<strong>Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517949" 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/humu.10270" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(01)00750-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng863" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1529-8817.2004.00150.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.40.4.285" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20568" target="_blank">Full Text</a>]
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<a id="Shirane2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shirane, K., Miura, F., Ito, T., Lorincz, M. C.
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<strong>NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing.</strong>
|
|
Nature Genet. 52: 1088-1098, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32929285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32929285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32929285" 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/s41588-020-0689-z" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Tatton-Brown2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R. P., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N.
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<strong>Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.</strong>
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Am. J. Hum. Genet. 77: 193-204, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15942875[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=15942875" 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/10.1086/432082" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Tatton-Brown2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tatton-Brown, K., Rahman, N.
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<strong>The NSD1 and EZH2 overgrowth genes, similarities and differences.</strong>
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Am. J. Med. Genet. 163C: 86-91, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23592277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23592277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23592277[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=23592277" 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.c.31359" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Turkmen2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L. M., Hesse, V., Palanduz, S., Balg, S., Majewski, F., Fuchs, S., Zschieschang, P., Greiwe, M., Mennicke, K., Kreuz, F. R., Dehmel, H. J., Rodeck, B., Kunze, J., Tinschert, S., Mundlos, S., Horn, D.
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<strong>Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.</strong>
|
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Europ. J. Hum. Genet. 11: 858-865, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201050" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="van Haelst2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Haelst, M. M., Hoogeboom, J. J. M., Baujat, G., Bruggenwirth, H. T., Van de Laar, I., Coleman, K., Rahman, N., Niermeijer, M. F., Drop, S. L. S., Scambler, P. J.
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<strong>Familial gigantism caused by an NSD1 mutation.</strong>
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Am. J. Med. Genet. 139A: 40-44, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222665" 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.30973" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Visser2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Visser, R., Matsumoto, N.
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<strong>Genetics of Sotos syndrome.</strong>
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Curr. Opin. Pediat. 15: 598-606, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14631206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14631206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14631206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00008480-200312000-00010" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Visser2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Visser, R., Shimokawa, O., Harada, N., Kinoshita, A., Ohta, T., Niikawa, N., Matsumoto, N.
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<strong>Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.</strong>
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Am. J. Hum. Genet. 76: 52-67, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580547</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15580547[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=15580547" 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/10.1086/426950" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Wang2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, X., Yeh, S., Wu, G., Hsu, C.-L., Wang, L., Chiang, T., Yang, Y., Guo, Y., Chang, C.
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<strong>Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.</strong>
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J. Biol. Chem. 276: 40417-40423, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11509567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11509567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11509567" 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/10.1074/jbc.M104765200" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Weinberg2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weinberg, D. N., Papillon-Cavanagh, S., Chen, H., Yue, Y., Chen, X., Rajagopalan, K. N., Horth, C., McGuire, J. T., Xu, X., Nikbakht, H., Lemiesz, A. E., Marchione, D. M., and 13 others.
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<strong>The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.</strong>
|
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Nature 573: 281-286, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31485078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31485078</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31485078[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=31485078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-019-1534-3" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 05/19/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Bao Lige - updated : 02/04/2021<br>Ada Hamosh - updated : 11/15/2019<br>Marla J. F. O'Neill - updated : 5/2/2013<br>George E. Tiller - updated : 1/3/2008<br>Cassandra L. Kniffin - updated : 11/13/2007<br>Cassandra L. Kniffin - updated : 10/2/2006<br>Marla J. F. O'Neill - updated : 1/25/2006<br>Marla J. F. O'Neill - updated : 11/17/2005<br>Marla J. F. O'Neill - updated : 8/30/2005<br>Victor A. McKusick - updated : 5/11/2005<br>Victor A. McKusick - updated : 12/15/2004<br>Marla J. F. O'Neill - updated : 5/14/2004<br>Victor A. McKusick - updated : 4/21/2004<br>Victor A. McKusick - updated : 1/22/2004<br>Cassandra L. Kniffin - updated : 12/9/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Ada Hamosh - updated : 3/29/2002<br>Paul J. Converse - updated : 3/13/2002
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Creation Date:
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Victor A. McKusick : 2/7/2002
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carol : 05/19/2022
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carol : 01/26/2022<br>mgross : 02/04/2021<br>alopez : 11/15/2019<br>carol : 09/25/2017<br>carol : 04/19/2017<br>carol : 10/18/2016<br>carol : 12/28/2015<br>carol : 5/2/2013<br>carol : 1/4/2013<br>carol : 8/7/2012<br>carol : 3/12/2012<br>carol : 1/10/2012<br>wwang : 6/10/2010<br>terry : 6/9/2010<br>wwang : 5/27/2009<br>wwang : 1/17/2008<br>terry : 1/3/2008<br>wwang : 12/14/2007<br>ckniffin : 11/13/2007<br>wwang : 10/9/2006<br>ckniffin : 10/2/2006<br>wwang : 9/21/2006<br>wwang : 2/2/2006<br>terry : 1/25/2006<br>wwang : 11/22/2005<br>terry : 11/17/2005<br>wwang : 8/30/2005<br>wwang : 5/12/2005<br>terry : 5/11/2005<br>alopez : 12/16/2004<br>terry : 12/15/2004<br>carol : 5/18/2004<br>terry : 5/14/2004<br>tkritzer : 4/22/2004<br>terry : 4/21/2004<br>cwells : 1/27/2004<br>terry : 1/22/2004<br>carol : 12/12/2003<br>ckniffin : 12/9/2003<br>tkritzer : 1/31/2003<br>tkritzer : 1/23/2003<br>terry : 1/22/2003<br>carol : 3/29/2002<br>mgross : 3/29/2002<br>terry : 3/13/2002<br>terry : 3/8/2002<br>carol : 3/4/2002<br>carol : 2/11/2002<br>carol : 2/11/2002
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<span class="mim-font">
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<strong>*</strong> 606681
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<div>
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<h3>
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<span class="mim-font">
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NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1<br />
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SET DOMAIN PROTEIN 1<br />
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ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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<div>
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<span class="h3 mim-font">
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NSD1/NUP98 FUSION GENE, INCLUDED
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NSD1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 75968004;
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<strong>ICD10CM:</strong> Q87.3;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 5q35.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:177,131,798-177,300,213 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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5q35.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Sotos syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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117550
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The androgen receptor (AR; 313700) is a member of the steroid receptor (SR) superfamily that interacts with DNA response elements. SRs may enhance or inhibit transcription by recruiting an array of coregulators, including NSD1, that interact with its N or C terminus.</p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jaju et al. (1999) identified a recurrent cryptic translocation, t(5;11)(q35;p15.5), associated with a deletion of the long arm of chromosome 5 in de novo childhood acute myeloid leukemia (AML; see 601626). Jaju et al. (2001) confirmed that the chromosome 11 breakpoint gene is NUP98 (601021) and reported the cloning of its novel chromosome 5 fusion partner, NSD1. Nucleotide 1552 of NUP98 was fused in-frame to nucleotide 3504 of NSD1. The full coding sequence of NSD1 encodes a deduced 2,596-amino acid protein. The human and mouse NSD1 proteins share 85% sequence identity and have the same domain structure including a conserved SET domain, a SET domain-associated cysteine-rich domain (SAC domain), and 5 PHD fingers. Northern blot analysis detected wide expression of 2 NSD1 transcripts of 10.5 and 12.0 kb in hematologic and other tissues, respectively. </p><p>Using a yeast 2-hybrid screen of a brain cDNA library with the ligand-binding domains (LBDs) of AR and TR4 (NR2C2; 601426) as bait, followed by 5-prime RACE on a testis cDNA library, Wang et al. (2001) isolated a cDNA encoding NSD1, which they called ARA267-alpha, encoding a. 2,427-amino acid protein with homology to other ARA coregulators. The protein possesses a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The 4 PHD finger regions contain a cys-rich region, a ring finger, and a zinc finger. Wang et al. (2001) also identified an ARA267-beta isoform encoding a 2,696-amino acid protein that is 83% homologous to mouse Nsd1 and has 279 N-terminal residues that merge into the eleventh residue of ARA267-alpha. Northern blot analysis revealed expression of 13- and 10-kb transcripts in multiple cell lines. Dot blot analysis detected expression in most tissues, with highest expression in lymph node. Mutation and binding analyses indicated that the N- and C-terminal domains of ARA267 can interact with full-length or C-terminal AR, but not with N-terminal AR, suggesting that the LBD and DNA-binding domain of AR may be responsible for the interaction. Luciferase analysis demonstrated that ARA267, like other ARA coregulators, has little or no influence on the interaction of the N and C termini of AR. </p><p>Kurotaki et al. (2001) independently cloned the NSD1 gene and found that it is expressed in fetal/adult brain, skeletal muscle, kidney, spleen, and thymus, and faintly in lung. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Functional analysis by Wang et al. (2001) showed that ARA267-alpha enhances AR transactivation, and this enhancement could be increased further in the presence of other ARA coregulators, such as ARA24 (RAN; 601179) and PCAF (602303). </p><p>Weinberg et al. (2019) reported that NSD1-mediated H3K36me2 is required for the recruitment of DNMT3A (602769) and maintenance DNA methylation at intergenic regions. Genomewide analysis showed that the binding and activity of DNMT3A colocalized with H3K36me2 at noncoding regions of euchromatin. Genetic ablation of Nsd1 and its paralog Nsd2 in mouse cells resulted in a redistribution of Dnmt3A to H3K36me3-modified gene bodies and a reduction in the methylation of intergenic DNA. Blood samples from patients with Sotos syndrome (117550) and NSD1-mutant tumors also exhibited hypomethylation of intergenic DNA. The PWWP domain of DNMT3A showed dual recognition of H3K36me2 and H3K36me3 in vitro, with a higher binding affinity towards H3K36me2 that was abrogated by Tatton-Brown-Rahman syndrome (TBRS; 615879)-derived missense mutations. Weinberg et al. (2019) concluded that their study revealed a trans-chromatin regulatory pathway that connects aberrant intergenic CpG methylation to human neoplastic and developmental overgrowth. </p><p>Using genomewide profiling, Shirane et al. (2020) showed that Setd2 (612778) and H3K36me3 were dispensable for de novo DNA methylation (DNAme) in male mouse germline development. Instead, H3K36me2 was broadly correlated with DNAme. Nsd1 was required for DNAme in prenatal male germ cells and was essential for establishment of DNAme at H3K36me2-marked regions within paternal gametic differentially methylated regions. Furthermore, Nsd1 was required for survival of spermatogonia and spermatogenesis. Knockout of Nsd1 in prospermatogonia revealed that H3K36me2 deposited by Nsd1 impeded further deposition of H3K27me3 in prenatal male germline development in the absence of de novo DNAme, thereby safeguarding a subset of genes against H3K27me3-associated repression. In contrast, Setd2 was required not only for deposition of H3K36me3 in oocytes and de novo DNAme in transcribed regions, but also for deposition of the majority of H3K36me2 in oocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kurotaki et al. (2001) determined that the NSD1 gene contains 23 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By FISH, Jaju et al. (2001) mapped the NSD1 gene to chromosome 5q35. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Imaizumi et al. (2002) found a t(5;8)(q35;q24.1) translocation in a child with Sotos syndrome (SOTOS; 117550). Kurotaki et al. (2002) identified NSD1 as the gene disrupted by the 5q35 breakpoint. </p><p>Kurotaki et al. (2002) identified 4 different de novo point mutations in the NSD1 gene in 4 of 38 individuals with Sotos syndrome. These included 1 nonsense mutation, 2 frameshift mutations, and 1 splice site mutation. FISH analysis revealed a common 2.2-Mb deletion in 19 individuals and a smaller deletion in 1 individual from a total of 30 affected individuals whose metaphase or interphase cells were available. The deletions involved the entire NSD1 gene. Kurotaki et al. (2002) found that 77% of individuals with Sotos syndrome in their study had either deletions or point mutations in the NSD1 gene as the cause of Sotos syndrome. They concluded that haploinsufficiency of NSD1 is the major cause of Sotos syndrome. </p><p>Douglas et al. (2003) evaluated 75 patients with childhood overgrowth for intragenic mutations and large deletions in NSD1 of the type reported by Kurotaki et al. (2002) as the major cause of Sotos syndrome. Before molecular analyses, the patients were phenotypically scored into 4 groups: 37 patients comprising group 1 had a phenotype typical of Sotos syndrome; 13 patients comprising group 2 had a Sotos-like phenotype but with some atypical features; 7 patients comprising group 3 had been diagnosed with Weaver syndrome (WVS; 277590); and 18 patients comprising group 4 had an overgrowth condition that was neither Sotos nor Weaver syndrome. Douglas et al. (2003) detected 3 deletions and 32 mutations that were predicted to impair NSD1 functions. The truncating mutations were spread throughout NSD1, but there was evidence of clustering of missense mutations in highly conserved functional domains between exons 13 and 23. There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, as 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. Three of the 7 patients who had been diagnosed with Weaver syndrome had NSD1 mutations, all between amino acids 2142 and 2184 (see 606681.0006). Tatton-Brown et al. (2005) reviewed the phenotype of the 3 patients who carried a diagnosis of Weaver syndrome and in whom Douglas et al. (2003) had identified mutations in the NSD1 gene, and on the basis of multiple pictures at different ages, reclassified 2 of them as having 'typical Sotos syndrome' and the third as 'possible Sotos syndrome.' </p><p>Nagai et al. (2003) analyzed the phenotypic findings of 5 patients with intragenic NSD1 mutations predicted to form a truncated NSD1 protein and in 21 patients with a fairly common deletion of approximately 2.2 Mb involving the entire NSD1 gene. Overgrowth and advanced maturation in infancy to early childhood, mental retardation, hypotonia, hyperreflexia, and characteristic minor anomalies were present in patients with mutations and deletions, whereas major anomalies in the central nervous system (agenesis or hypoplasia of the corpus callosum), cardiovascular system (patent ductus arteriosus and atrial septal defect), and urinary system (vesicoureteric reflux, hydronephrosis, and small kidney) were exclusively exhibited by patients with deletions. The results suggested that clinical features in Sotos syndrome can be classified into 2 major categories: those primarily caused by NSD1 haploinsufficiency and those primarily ascribed to some factors, such as the dosage effects of genes other than NSD1, involved in the deletion. </p><p>Turkmen et al. (2003) screened the NSD1 gene for mutations in 20 patients and 1 familial case with Sotos syndrome, 5 patients with Weaver syndrome, 6 patients with unclassified overgrowth and mental retardation, and 6 patients with macrocephaly and mental retardation. They identified 19 mutations, 17 previously undescribed, in 18 Sotos patients and the familial case (90%). The best correlation between the molecular and clinical findings was for facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay. Turkmen et al. (2003) found no mutations of the NSD1 gene in the patients with Weaver syndrome or other overgrowth phenotypes and concluded that the great majority of patients with Sotos syndrome have mutations in NSD1. </p><p>Kurotaki et al. (2003) found 50 microdeletions (606681.0001) among 112 cases of Sotos syndrome and suggested that low copy repeats (LCRs) possibly mediate the common deletion. As pointed out by Visser and Matsumoto (2003), intragenic mutations prevail in Caucasian Sotos syndrome patients, whereas Japanese patients with this disorder more frequently harbor a microdeletion. Each deletion breakpoint is located in either of the 2 flanking LCRs. Most meiotic rearrangements seem to be of intrachromosomal origin and show a preference for the paternally derived chromosome. </p><p>In light of accumulated evidence, Sotos syndrome can be added to the list of genomic disorders (Shaw and Lupski, 2004), defined as pathologic conditions in which the gain, loss, or disruption of dosage-sensitive gene(s) results in a recognized phenotype (Lupski, 1998). Unequal rearrangement (nonallelic homologous recombination) between regions of high homology (i.e., LCRs) is the most common mechanism. Visser et al. (2005) found a heterozygous inversion of the interval between the LCRs in all fathers of children carrying a deletion in the paternally derived chromosome. Segmental duplications of the primate genome played a major role in chromosomal evolution. Evolutionary studies by Visser et al. (2005) showed that the duplication of the Sotos syndrome LCRs occurred 23.3 to 47.6 million years ago, before the divergence of Old World monkeys. </p><p>Kurotaki et al. (2005) characterized 2 complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1, which they designated proximal Sos-REP (Sos-PREP, approximately 390 kb) and distal Sos-REP (Sos-DREP, approximately 429 kb), respectively. Sos-PREP and Sos-DREP are composed of 6 subunits termed A to F. All but one homologous subunit was located in an inverted orientation, and the order of subunits was different between the 2 Sos-REPs. Only the subunit C-prime in Sos-DREP was oriented directly with respect to the subunit C in Sos-PREP. Among 8 Sotos patients with a common deletion, an approximately 550-kb junction fragment was detected that was generated by nonallelic homologous recombination (NAHR) between Sos-PREP C and Sos-DREP C-prime subunits. This patient-specific junction fragment was not present in 51 Japanese and non-Japanese controls. Kurotaki et al. (2005) identified a 2.5-kb unequal crossover hotspot region in 6 of 9 analyzed Sotos patients with the common deletion. </p><p>Melchior et al. (2005) developed a denaturing high-performance liquid chromatography (DHPLC) screening protocol for mutation detection in NSD1 and identified 9 novel mutations among 33 patients, an efficiency of mutation detection comparable to that achieved by direct sequencing. In 2 patients, NSD1 deletions were identified. A summary of over 100 NSD1 mutations was provided. </p><p>Through analyses of 530 individuals with diverse phenotypes, Tatton-Brown et al. (2005) identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing the NSD1 gene. Of 166 patients with NSD1 abnormalities for whom photographs were available, Sotos syndrome was clinically diagnosed in 164 (99%) independent of the molecular analysis, indicating that NSD1 aberrations are essentially specific to this condition. Analysis of 124 patients from the United Kingdom suggested that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. Tatton-Brown et al. (2005) reviewed the clinical phenotype of 239 individuals with NSD1 abnormalities and observed that individuals with identical mutations had different phenotypes, that all features present in patients with microdeletions were also observed in patients with mutations, and that there was no correlation between deletion size and clinical phenotype. Tatton-Brown et al. (2005) identified only 13 familial cases and noted that familial cases were more likely than nonfamilial cases to carry missense mutations (p = 0.005), suggesting that the underlying NSD1 mutation mechanism in Sotos syndrome may influence reproductive fitness. </p><p>Van Haelst et al. (2005) reported a 3-generation family with gigantism (Sotos syndrome) in whom they identified a missense mutation in the NSD1 gene (C2202Y; 606681.0013). </p><p>Cecconi et al. (2005) identified mutations in the NSD1 gene in 17 (71%) of 24 patients with classic Sotos syndrome. All patients with a mutant NSD1 genotype showed the typical facial gestalt; however, not all patients showed height above the 97th percentile, absolute macrocephaly, or advanced bone age. No genotype/phenotype correlations were observed. NSD1 mutations were not identified in 9 patients with a Sotos-like phenotype, 2 patients with Weaver syndrome, or 24 additional patients with nonspecific overgrowth, suggesting that mutations in the NSD1 gene are specific for Sotos syndrome. </p><p>Kanemoto et al. (2006) reported a female infant with features of both Sotos syndrome and Nevo syndrome (see 225400) in whom they identified a heterozygous 2.2-Mb deletion (606681.0001) encompassing the NSD1 gene. </p><p>Saugier-Veber et al. (2007) identified 69 different point mutations, including 48 novel mutations, in the NSD1 gene in 104 patients from 102 families with Sotos syndrome. Point mutations were detected in 80%, large deletions removing the entire NSD1 gene in 14%, and intragenic NSD1 rearrangements in 6%. The large deletions ranged in size from 1 to 4.5 Mb. Patients with truncating mutations had a more severe phenotype than those with nontruncating mutations. No NSD1 mutations were identified in 12 additional patients with a clinical diagnosis of Sotos syndrome. </p><p>Tatton-Brown and Rahman (2013) reviewed the similarities and differences between the NSD1 and EZH2 (601573) genes, which cause the overgrowth Sotos and Weaver syndromes, respectively. The authors noted that although the NSD1-associated phenotype has been well characterized with many hundreds of reported cases, it is not yet understood what factors determine the variability of the Sotos syndrome phenotype, in which unrelated individuals with the same recurrent mutation exhibit differing degrees of intellectual disability and frequencies of associated medical issues such as cardiac and renal anomalies, seizures, and scoliosis. </p><p>In 7 patients with Sotos syndrome with hyperinsulinemic hypoglycemia with persistence beyond a year of age in at least 3 patients, Grand et al. (2019) identified point mutations in the NSD1 gene. The mutations included 4 nonsense, 3 missense, and 1 frameshift. The authors noted that these patients disprove the hypothesis that hyperinsulinemic hypoglycemia is due to deletion of nearby genes in the 5q35 deleted region and suggest a role for NSD1 in glucose homeostasis. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SOTOS 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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NSD1, 1.9-MB DEL
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<br />
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ClinVar: RCV003231075
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 19 of 30 Japanese individuals with Sotos syndrome (SOTOS; 117550), Kurotaki et al. (2002) identified a 2.2-Mb deletion on chromosome 5q35 leading to complete deletion of the NSD1 gene. </p><p>Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is the major cause of Sotos syndrome. The common microdeletion of approximately 2.2 Mb encompasses the whole NSD1 gene and neighboring genes and is flanked by low-copy repeats (LCRs). Visser et al. (2005) identified a 3.0-kb major recombination hotspot within these LCRs, in which they mapped deletion breakpoints in 78.7% (37/47) of patients with Sotos syndrome who carried the common microdeletion. They were able to refine the size of the deletion to 1.9 Mb. Sequencing of breakpoint fragments from all 37 patients revealed junctions between a segment of the proximal LCR (PLCR-B) and the corresponding region of the distal LCR (DLCR-2B). Visser et al. (2005) found that PLCR-B and DLCR-2B are the only directly oriented regions, whereas the remaining regions of the PLCR and DLCR are in inverted orientation. PLCR and DLCR showed high overall homology (approximately 98.5%), with an increased sequence similarity (approximately 99.4%) within the 3.0-kb breakpoint cluster. </p><p>In a female infant with features of both Sotos syndrome and Nevo syndrome (225400), Kanemoto et al. (2006) identified heterozygosity for a 2.2-Mb deletion encompassing the NSD1 gene. </p>
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</span>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SOTOS 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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NSD1, SER437TER
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<br />
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SNP: rs121908067,
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ClinVar: RCV003231076, RCV003231077
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with sporadic Sotos syndrome (SOTOS; 117550), Kurotaki et al. (2002) identified a C-to-G transversion at nucleotide 1310 leading to a ser437-to-ter substitution at codon 437 on 1 allele of the NSD1 gene. This patient with the S437X nonsense mutation was 1 of 5 in whom the phenotype was analyzed by Nagai et al. (2003). </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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<h4>
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<span class="mim-font">
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<strong>.0003 SOTOS SYNDROME</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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NSD1, 1-BP DEL, 3536A
|
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|
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|
<br />
|
|
|
|
SNP: rs1562213381,
|
|
|
|
|
|
|
|
ClinVar: RCV003231078
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic Sotos syndrome (SOTOS; 117550), Kurotaki et al. (2002) identified a deletion of a single basepair at nucleotide 3536 of the NSD1 gene. This patient was 1 of 5 in whom the phenotype was analyzed by Nagai et al. (2003). </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, 1-BP INS, 5998T
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|
|
|
<br />
|
|
|
|
SNP: rs1562295135,
|
|
|
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|
|
|
|
ClinVar: RCV003231079
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic Sotos syndrome (SOTOS; 117550), Kurotaki et al. (2002) identified an insertion of a thymidine at nucleotide 5998 in the NSD1 gene. This patient was 1 of 5 in whom the phenotype was analyzed by Nagai et al. (2003). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, IVS20DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562296511,
|
|
|
|
|
|
|
|
ClinVar: RCV001818128, RCV003231080
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic Sotos syndrome (SOTOS; 117550), Kurotaki et al. (2002) identified a splice site mutation at the splice donor site of intron 20 leading to a premature termination codon only 9 amino acids thereafter. This patient was 1 of 5 in whom the phenotype was analyzed by Nagai et al. (2003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, HIS2143GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908068,
|
|
|
|
|
|
gnomAD: rs121908068,
|
|
|
|
|
|
ClinVar: RCV003231081
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient originally diagnosed with Weaver syndrome, Douglas et al. (2003) identified a heterozygous mutation in exon 22 of the NSD1 gene, resulting in a his2143-to-glu substitution. The patient was later diagnosed with Sotos syndrome (SOTOS; 117550) by Tatton-Brown et al. (2005) after review of patient photographs at different ages and the mutation was corrected to his2143-to-gln (H2143Q). See online Table 2 in Tatton-Brown et al. (2005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, CYS2183SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908069,
|
|
|
|
|
|
|
|
ClinVar: RCV003231082
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient originally diagnosed with Weaver syndrome, Douglas et al. (2003) identified a heterozygous mutation in exon 23 of the NSD1 gene, resulting in a cys2183-to-ser (C2183S) substitution. The patient was later diagnosed with Sotos syndrome (SOTOS; 117550) by Tatton-Brown et al. (2005) after review of patient photographs at different ages. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, 1-BP INS, 6450C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs864309639,
|
|
|
|
|
|
|
|
ClinVar: RCV003231083
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient originally diagnosed with Weaver syndrome, Douglas et al. (2003) identified a heterozygous 1-bp insertion (6450insC) in exon 22 of the NSD1, resulting in a frameshift and a termination at codon 2165. The patient was later diagnosed with Sotos syndrome (SOTOS; 117550) by Tatton-Brown et al. (2005) after review of patient photographs at different ages. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, 1-BP DEL, 896C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562099585,
|
|
|
|
|
|
|
|
ClinVar: RCV003231084
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Finnish father and son with Sotos syndrome (SOTOS; 117550), Hoglund et al. (2003) identified a heterozygous 1-bp deletion (896delC) in exon 2 of the NSD1 gene, resulting in a truncation of 88% of the predicted polypeptide. The mutation was not detected in the unaffected mother or in 94 unrelated Finnish individuals. Hoglund et al. (2003) noted that the findings in this family confirm that familial Sotos syndrome is caused by mutation in the NSD1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, ARG1320TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908070,
|
|
|
|
|
|
|
|
ClinVar: RCV000487238, RCV003231085
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of the 5 patients with Sotos syndrome (SOTOS; 117550) and intragenic mutations of the NSD1 gene studied by Nagai et al. (2003) had a novel nonsense mutation in exon 7 of the NSD1 gene: 3958C-T, arg1320 to stop (R1320X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, 1-BP INS, 4976G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562269320,
|
|
|
|
|
|
|
|
ClinVar: RCV003231086
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PB) with Sotos syndrome (SOTOS; 117550), who had a clinical diagnosis of Beckwith-Wiedemann syndrome (130650), Baujat et al. (2004) identified a de novo 1-bp insertion, 4976insG, in exon 14 of the NSD1 gene. Features consistent with BWS included large umbilical hernia and left-sided hemihypertrophy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, 4-BP DEL, 7968GACA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562312238,
|
|
|
|
|
|
|
|
ClinVar: RCV003231087
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (BA) with Sotos syndrome (SOTOS; 117550), who had a clinical diagnosis of Beckwith-Wiedemann syndrome (130650), Baujat et al. (2004) identified a de novo 4-bp deletion, 7968delGACA, in exon 23 of the NSD1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SOTOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSD1, CYS2202TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908071,
|
|
|
|
|
|
|
|
ClinVar: RCV001813734, RCV003231088
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 3-generation family with Sotos syndrome (SOTOS; 117550), van Haelst et al. (2005) identified a 6605G-A transition in the NSD1 gene, resulting in a cys2202-to-tyr (C2202Y) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baujat, G., Rio, M., Rossignol, S., Sanlaville, D., Lyonnet, S., Le Merrer, M., Munnich, A., Gicquel, C., Cormier-Daire, V., Colleaux, L.
|
|
<strong>Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.</strong>
|
|
Am. J. Hum. Genet. 74: 715-720, 2004.
|
|
|
|
|
|
[PubMed: 14997421]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/383093]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, G., Della Monica, M., Fischetto, R., and 10 others.
|
|
<strong>Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.</strong>
|
|
Am. J. Med. Genet. 134A: 247-253, 2005.
|
|
|
|
|
|
[PubMed: 15742365]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30492]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P., Rahman, N.
|
|
<strong>NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.</strong>
|
|
Am. J. Hum. Genet. 72: 132-143, 2003.
|
|
|
|
|
|
[PubMed: 12464997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/345647]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grand, K., Gonzalez-Gandolfi, C., Ackermann, A. M., Aljeaid, D., Bedoukian, E., Bird, L. M., De Leon, D. D., Diaz, J., Hopkin, R. J., Kadakia, S. P., Keena, B., Klein, K. O., and 11 others.
|
|
<strong>Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.</strong>
|
|
Am. J. Med. Genet. 179A: 542-551, 2019.
|
|
|
|
|
|
[PubMed: 30719864]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61062]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M., Matsumoto, N.
|
|
<strong>Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. (Letter)</strong>
|
|
J. Med. Genet. 40: 51-54, 2003.
|
|
|
|
|
|
[PubMed: 12525543]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.1.51]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Imaizumi, K., Kimura, J., Matsuo, M., Kurosawa, K., Masuno, M., Niikawa, N., Kuroki, Y.
|
|
<strong>Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).</strong>
|
|
Am. J. Med. Genet. 107: 58-60, 2002.
|
|
|
|
|
|
[PubMed: 11807869]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.10080]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jaju, R. J., Fidler, C., Haas, O. A., Strickson, A. J., Watkins, F., Clark, K., Cross, N. C. P., Cheng, J.-F., Aplan, P. D., Kearney, L., Boultwood, J., Wainscoat, J. S.
|
|
<strong>A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.</strong>
|
|
Blood 98: 1264-1267, 2001.
|
|
|
|
|
|
[PubMed: 11493482]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.v98.4.1264]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jaju, R. J., Haas, O. A., Neat, M., Harbott, J., Saha, V., Boultwood, J., Brown, J. M., Pirc-Danoewinata, H., Krings, B. W., Muller, U., Morris, S. W., Wainscoat, J. S., Kearney, L.
|
|
<strong>A new recurrent translocation, t(5;11)(q35p15.5), associated with del(5q) in childhood acute myeloid leukemia.</strong>
|
|
Blood 94: 773-780, 1999.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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