3951 lines
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- *606025 - ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20
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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">*606025</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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606025">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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=ENSG00000181722;t=ENST00000675478" 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=26137" 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=606025" 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=ENSG00000181722;t=ENST00000675478" 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_001164342,NM_001164343,NM_001164344,NM_001164345,NM_001164346,NM_001164347,NM_001348800,NM_001348801,NM_001348802,NM_001348803,NM_001348804,NM_001348805,NM_001393393,NM_001393394,NM_001393395,NM_001393396,NM_015642,NR_121662" 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_001348800" 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=606025" 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=05822&isoform_id=05822_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/ZBTB20" 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/4886505,13386602,20809643,52545936,119600004,158261255,172045933,189054870,257900533,257900535,257900537,257900539,257900541,257900543,257900545,1148291099,1148291111,1148291116,1148291153,1148291165,1148300673,1978058504,1978059111,1978065107,1995057225" 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/Q9HC78" 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=26137" 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=ENSG00000181722;t=ENST00000675478" 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=ZBTB20" 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=ZBTB20" 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+26137" 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/ZBTB20" 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:26137" 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/26137" 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=chr3&hgg_gene=ENST00000675478.1&hgg_start=114314500&hgg_end=115147288&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/genes/HGNC:13503" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606025[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=606025[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/ZBTB20/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/ENSG00000181722" 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=ZBTB20" 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=ZBTB20" 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=ZBTB20" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ZBTB20&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/PA37789" 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:13503" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1929213" 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/ZBTB20#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:1929213" 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/26137/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=26137" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-1992" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ZBTB20&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> 726709001<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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606025
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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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ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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ZINC FINGER PROTEIN 288; ZNF288<br />
|
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DENDRITIC-DERIVED BTB/POZ ZINC FINGER; DPZF<br />
|
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HOF
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ZBTB20" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZBTB20</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/3/564?start=-3&limit=10&highlight=564">3q13.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:114314500-115147288&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'})">3:114,314,500-115,147,288</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/3/564?start=-3&limit=10&highlight=564">
|
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3q13.31
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Primrose syndrome
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/259050"> 259050 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606025" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606025" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>ZBTB20 is a member of the POK (POZ and Kruppel) family of transcriptional repressors that interact with DNA via their conserved C2H2 Kruppel-type zinc finger and BTB/POZ domains (<a href="#11" class="mim-tip-reference" title="Sutherland, A. P. R., Zhang, H., Zhang, Y., Michaud, M., Xie, Z., Patti, M.-E., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.</strong> Molec. Cell. Biol. 29: 2804-2815, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273596[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/10.1128/MCB.01667-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273596">Sutherland et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an EST with an incomplete ORF potentially encoding 4 C2H2 zinc finger motifs from a human dendritic cell cDNA library, followed by 5-prime RACE, <a href="#13" class="mim-tip-reference" title="Zhang, W., Mi, J., Li, N., Sui, L., Wan, T., Zhang, J., Chen, T., Cao, X. <strong>Identification and characterization of DPZF, a novel human BTB/POZ zinc finger protein sharing homology to BCL-6.</strong> Biochem. Biophys. Res. Commun. 282: 1067-1073, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11352661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11352661</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11352661">Zhang et al. (2001)</a> isolated a full-length cDNA clone of a novel zinc finger, ZNF288, which they called DPZF. The deduced 733-amino acid protein has a molecular mass of 80 kD and contains an N-terminal BTB/POZ domain and a C-terminal zinc finger domain with 4 typical Kruppel-type C2H2 motifs. Within the BTB/POZ domain, ZNF288 shares high homology with BCL6 (<a href="/entry/109565">109565</a>), a POK protein putatively involved in lymphopoiesis. Northern blot analysis detected expression of ZNF288 in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver; no expression was found in bone marrow. Two transcripts of approximately 7.4 kb and 2.8 kb were present in most of the tissues, with the 2.8-kb transcript predominant in spleen, lymph node, and peripheral blood leukocytes. RT-PCR analysis detected expression in dendritic cells, monocytes, B cells, and T cells. Expression of a 100-kD ZNF288 protein was detectable in lymphoid neoplasm, especially B lymphoma. The authors suggested that ZNF288 may be a transcription factor closely related to BCL6 and may be involved in hematopoiesis, oncogenesis, and immune responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11352661" 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>By subtractive cloning to identify mRNAs expressed in mouse oligodendrocytes, <a href="#8" class="mim-tip-reference" title="Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A. <strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong> J. Biol. Chem. 277: 7598-7609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744704</a>] [<a href="https://doi.org/10.1074/jbc.M110023200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744704">Mitchelmore et al. (2002)</a> cloned 2 major splice variants of mouse Zbtb20, which they called Hofl and Hofs. The deduced proteins contain 741 and 668 amino acids, respectively, and are 97% identical to their human counterparts. Hofl and Hofs differ only at their N termini, with Hofs lacking the first 73 amino acids of Hofl. <a href="#8" class="mim-tip-reference" title="Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A. <strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong> J. Biol. Chem. 277: 7598-7609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744704</a>] [<a href="https://doi.org/10.1074/jbc.M110023200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744704">Mitchelmore et al. (2002)</a> also sequenced 4 additional splice variants encoding the same protein as Hofl, and 2 additional splice variants encoding the same protein as Hofs. Western blot analysis of in vitro-translated Hofl resulted in proteins corresponding to both Hofl and Hofs, suggesting that the Hofl translational start site is suboptimal. Immunohistochemical analysis of developing mouse brain showed that Hofl and Hofs were specifically expressed in early hippocampal neurons, cerebellar granule cells, and gliogenic progenitors, as well as in differentiated glia. In developing cerebral cortex, Hof expression was restricted to the hippocampal subdivision, and expression coincided with early differentiation of presumptive CA1 and CA3 pyramidal neurons and dentate gyrus granule cells, with a sharp decline in expression at the CA1/subicular border. Hof expression was downregulated in differentiated hippocampal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A. <strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong> J. Biol. Chem. 277: 7598-7609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744704</a>] [<a href="https://doi.org/10.1074/jbc.M110023200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744704">Mitchelmore et al. (2002)</a> determined that the ZBTB20 gene contains 11 exons and may span up to 700 kb. Exons 8 and 10 have translational start sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744704" 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 and radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Harboe, T. L., Tumer, Z., Hansen, C., Jensen, N. A., Tommerup, N. <strong>Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.</strong> Cytogenet. Cell Genet. 89: 156-157, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965110</a>] [<a href="https://doi.org/10.1159/000015600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965110">Harboe et al. (2000)</a> mapped the ZNF288 gene to chromosome 3q13.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965110" 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>The alpha-fetoprotein gene (AFP; <a href="/entry/104150">104150</a>) is highly activated in fetal liver but is dramatically repressed shortly after birth. Using chromatin immunoprecipitation analysis and reporter gene assays, <a href="#12" class="mim-tip-reference" title="Xie, Z., Zhang, H., Tsai, W., Zhang, Y., Du, Y., Zhong, J., Szpirer, C., Zhu, M., Cao, X., Barton, M. C., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver.</strong> Proc. Nat. Acad. Sci. 105: 10859-10864, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18669658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18669658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18669658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0800647105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18669658">Xie et al. (2008)</a> showed that mouse Zbtb20 bound to the Afp promoter and inhibited Afp transcription in a dose-dependent manner. Immunohistochemical analysis showed that Zbtb20 was expressed in the nucleus of adult mouse hepatocytes. Furthermore, RT-PCR and Western blot analysis demonstrated an inverse relationship in the expression of Zbtb20 and Afp in fetal and adult liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18669658" 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 protein pull-down assays, <a href="#8" class="mim-tip-reference" title="Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A. <strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong> J. Biol. Chem. 277: 7598-7609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744704</a>] [<a href="https://doi.org/10.1074/jbc.M110023200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744704">Mitchelmore et al. (2002)</a> showed that mouse Hofl and Hofs interacted strongly in both homotypic and heterotypic interactions and that the BTB/POZ domain seemed to be the major interaction interface. Isolated Hof zinc fingers bound a DNA sequence that interacts with PLZF (ZBTB16; <a href="/entry/176797">176797</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744704" 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 8 patients with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#3" class="mim-tip-reference" title="Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others. <strong>Mutations in ZBTB20 cause Primrose syndrome.</strong> Nature Genet. 46: 815-817, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>] [<a href="https://doi.org/10.1038/ng.3035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25017102">Cordeddu et al. (2014)</a> identified heterozygosity for de novo missense variants in the ZBTB20 gene (see, e.g., <a href="#0001">606025.0001</a>-<a href="#0004">606025.0004</a>). Functional analysis showed strongly reduced DNA binding for all mutants compared to wildtype, and results were consistent with the mutations having a dominant-negative impact on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25017102" 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 4-year-old boy with Primrose syndrome, <a href="#7" class="mim-tip-reference" title="Mattioli, F., Piton, A., Gerard, B., Superti-Furga, A., Mandel, J.-L., Unger, S. <strong>Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.</strong> Am. J. Med. Genet. 170A: 1626-1629, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061120</a>] [<a href="https://doi.org/10.1002/ajmg.a.37645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27061120">Mattioli et al. (2016)</a> identified heterozygosity for 2 de novo missense mutations on the same allele of the ZBTB20 gene (<a href="#0005">606025.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061120" 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 14-year-old boy with Primrose syndrome, <a href="#5" class="mim-tip-reference" title="Grimsdottir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A., Hermann, N. V. <strong>Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.</strong> Clin. Dysmorph. 28: 41-45, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30256248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30256248</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30256248">Grimsdottir et al. (2019)</a> identified heterozygosity for a de novo missense mutation in the ZBTB20 gene (H600Q; <a href="#0006">606025.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30256248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with Primrose syndrome, <a href="#10" class="mim-tip-reference" title="Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M., Rauch, A. <strong>Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.</strong> Hum. Mutat. 39: 959-964, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29737001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29737001</a>] [<a href="https://doi.org/10.1002/humu.23546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29737001">Stellacci et al. (2018)</a> identified de novo heterozygous mutations in the ZBTB20 gene: the first reported frameshift mutation (c.1024delC; <a href="#0007">606025.0007</a>) and a missense mutation (T644I; <a href="#0008">606025.0008</a>) in the third zinc finger motif of the protein. The authors noted that previously reported mutations occurred in the first and second zinc finger motifs. Functional data showed that both mutations result in stable but dysfunctional proteins characterized by impaired binding to DNA, consistent with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29737001" 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 2-year-old boy and an unrelated 27-year-old man with Primrose syndrome, <a href="#4" class="mim-tip-reference" title="Ferreira, L. D., Borges-Medeiros, R. L., Thies, J., Schnur, R. E., Lam, C., de Oliveira, J. R. M. <strong>Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.</strong> Am. J. Med. Genet. 179A: 2228-2232, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31321892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31321892</a>] [<a href="https://doi.org/10.1002/ajmg.a.61297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31321892">Ferreira et al. (2019)</a> identified heterozygous missense mutations in the ZBTB20 gene. The boy carried a de novo cys608-to-arg (C608R; <a href="#0009">606025.0009</a>) substitution, and the man carried a met625-to-val (M625V; <a href="#0010">606025.0010</a>) substitution. The mutations in both patients occurred in the last coding exon of the ZBTB20 gene and in the second zinc finger domain of the ZBTB20 protein. Neither variant was present in large population databases, including gnomAD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31321892" 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>By trio exome sequencing in 5 unrelated patients with Primrose syndrome, <a href="#2" class="mim-tip-reference" title="Cleaver, R., Berg, J., Craft, E., Foster, A., Gibbons, R. J., Hobson, E., Lachlan, K., Naik, S., Sampson, J. R., Sharif, S., Smithson, S., Deciphering Developmental Disorders Study, Parker, M. J., Tatton-Brown, K. <strong>Refining the Primrose syndrome phenotype: a study of five patients with ZBTB20 de novo variants and a review of the literature.</strong> Am. J. Med. Genet. 179A: 344-349, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30637921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30637921</a>] [<a href="https://doi.org/10.1002/ajmg.a.61024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30637921">Cleaver et al. (2019)</a> identified de novo missense mutations in the ZBTB20 gene. Consistent with previous reports, all 5 mutations occurred within the C2H2 zinc finger domains. Two of the patients (patients 4 and 5) had mutations in the third zinc finger domain (e.g., <a href="#0011">606025.0011</a>), where only 2 mutations had previously been identified. Mosaicism for the variant in blood and saliva was noted in patient 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30637921" 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="#12" class="mim-tip-reference" title="Xie, Z., Zhang, H., Tsai, W., Zhang, Y., Du, Y., Zhong, J., Szpirer, C., Zhu, M., Cao, X., Barton, M. C., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver.</strong> Proc. Nat. Acad. Sci. 105: 10859-10864, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18669658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18669658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18669658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0800647105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18669658">Xie et al. (2008)</a> created mice with Zbtb20 knockout directed to liver. These mice were born at the expected ratio and appeared normal, with livers of normal size and architecture. Mutant hepatocytes differentiated normally. RT-PCR showed that adult Zbtb20-knockout liver expressed Afp mRNA levels about 3,000-fold higher than normal adult liver. Afp mRNA was activated gradually in both wildtype and Zbtb20-knockout fetal liver, but only wildtype liver showed a precipitous decline in Afp expression in the first 4 weeks of life. Afp mRNA levels declined less than 5-fold and remained high in Zbtb20-knockout liver, suggesting a failure of transcriptional shutoff. <a href="#12" class="mim-tip-reference" title="Xie, Z., Zhang, H., Tsai, W., Zhang, Y., Du, Y., Zhong, J., Szpirer, C., Zhu, M., Cao, X., Barton, M. C., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver.</strong> Proc. Nat. Acad. Sci. 105: 10859-10864, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18669658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18669658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18669658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0800647105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18669658">Xie et al. (2008)</a> concluded that ZBTB20 is a key regulator that blocks AFP expression in adult liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18669658" 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="Sutherland, A. P. R., Zhang, H., Zhang, Y., Michaud, M., Xie, Z., Patti, M.-E., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.</strong> Molec. Cell. Biol. 29: 2804-2815, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273596[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/10.1128/MCB.01667-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273596">Sutherland et al. (2009)</a> found that Zbtb20 -/- mice were born at mendelian frequencies, but that they exhibited growth retardation accompanied by hypoglycemia, and all died by 12 weeks of age. All tissues except hippocampus appeared normal. Comprehensive serum chemistry analysis revealed severe widespread metabolic dysfunction, including abnormal glucose homeostasis and hormonal responses. Zbtb20 -/- mice were hypoglycemic in both the fed and fasted states and showed almost complete absence of glycogen stores. Microarray analysis revealed significant changes in expression of transcripts involved in growth, glucose metabolism, and detoxification. Reexpression of Zbtb20 specifically in livers of Zbtb20 -/- mice resulted in no significant normalization of growth or glucose metabolism, but it significantly increased life span compared with Zbtb20 -/- mice. <a href="#11" class="mim-tip-reference" title="Sutherland, A. P. R., Zhang, H., Zhang, Y., Michaud, M., Xie, Z., Patti, M.-E., Grusby, M. J., Zhang, W. J. <strong>Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.</strong> Molec. Cell. Biol. 29: 2804-2815, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273596[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/10.1128/MCB.01667-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273596">Sutherland et al. (2009)</a> concluded that the phenotype of Zbtb20 -/- mice results from liver-dependent and liver-independent defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273596" 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 an 8-year-old girl with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#3" class="mim-tip-reference" title="Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others. <strong>Mutations in ZBTB20 cause Primrose syndrome.</strong> Nature Genet. 46: 815-817, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>] [<a href="https://doi.org/10.1038/ng.3035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25017102">Cordeddu et al. (2014)</a> identified heterozygosity for a de novo c.1787A-G transition in exon 3 of the ZBTB20 gene, resulting in a his596-to-arg (H596R) substitution at a highly conserved residue, located in the first zinc finger, that coordinates the Zn(2+) ion. Transient transfection experiments in HEK293T cells showed nuclear localization of the mutant, although a distinctive nonhomogeneous distribution pattern suggestive of protein aggregation was observed. Treatment with CSK buffer indicated that the H596R mutant loosely interacted with chromatin, in contrast to wildtype protein. DNA-binding assays demonstrated strongly reduced DNA binding for the H596R mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the H596R mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25017102" 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 26-year-old man with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Carvalho, D. R., Speck-Martins, C. E. <strong>Additional features of unique Primrose syndrome phenotype.</strong> Am. J. Med. Genet. 155A: 1379-1383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21567911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21567911</a>] [<a href="https://doi.org/10.1002/ajmg.a.33955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21567911">Carvalho and Speck-Martins (2011)</a>, <a href="#3" class="mim-tip-reference" title="Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others. <strong>Mutations in ZBTB20 cause Primrose syndrome.</strong> Nature Genet. 46: 815-817, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>] [<a href="https://doi.org/10.1038/ng.3035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25017102">Cordeddu et al. (2014)</a> identified heterozygosity for a de novo c.1861C-T transition in exon 4 of the ZBTB20 gene, resulting in a leu621-to-phe (L621F) substitution at a highly conserved residue in the second zinc finger. Assays in transfected HEK293T cells demonstrated strongly reduced DNA binding for the L621F mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the L621F mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21567911+25017102" 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">rs483353064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483353064;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=rs483353064" 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=rs483353064" 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=RCV000133615" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133615" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133615</a>
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<p>In a 31-year-old man with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), originally reported by <a href="#9" class="mim-tip-reference" title="Posmyk, R., Lesniewicz, R., Chorazy, M., Wolczynski, S. <strong>New case of Primrose syndrome with mild intellectual disability.</strong> Am. J. Med. Genet. 155A: 2838-2840, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910247</a>] [<a href="https://doi.org/10.1002/ajmg.a.34257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910247">Posmyk et al. (2011)</a>, <a href="#3" class="mim-tip-reference" title="Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others. <strong>Mutations in ZBTB20 cause Primrose syndrome.</strong> Nature Genet. 46: 815-817, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>] [<a href="https://doi.org/10.1038/ng.3035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25017102">Cordeddu et al. (2014)</a> identified heterozygosity for a de novo c.1768A-C transversion in exon 3 of the ZBTB20 gene, resulting in a lys590-to-gln (K590Q) substitution at a highly conserved residue in the first zinc finger. Transient transfection experiments in HEK293T cells showed nuclear localization of the mutant, although a distinctive nonhomogeneous distribution pattern suggestive of protein aggregation was observed. Treatment with CSK buffer indicated that the K590Q mutant loosely interacted with chromatin, in contrast to wildtype protein. DNA-binding assays demonstrated strongly reduced DNA binding for the K590Q mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the K590Q mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25017102+21910247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PRIMROSE SYNDROME</strong>
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ZBTB20, GLY602ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs483353068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483353068;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=rs483353068" 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=rs483353068" 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=RCV000133614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133614</a>
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<p>In a 43-year-old man with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#3" class="mim-tip-reference" title="Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others. <strong>Mutations in ZBTB20 cause Primrose syndrome.</strong> Nature Genet. 46: 815-817, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>] [<a href="https://doi.org/10.1038/ng.3035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25017102">Cordeddu et al. (2014)</a> identified heterozygosity for a de novo c.1805G-C transversion in exon 4 of the ZBTB20 gene, resulting in a gly602-to-ala (G602A) substitution at a highly conserved residue in the linker between the first and second zinc finger motifs. Assays in transfected HEK293T cells demonstrated strongly reduced DNA binding for the G602A mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the G602A mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25017102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PRIMROSE SYNDROME</strong>
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ZBTB20, SER616PHE AND GLY741ARG
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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> rs150263896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs150263896;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/rs150263896?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=rs150263896" 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=rs150263896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255635 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255635;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=rs879255635" 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=rs879255635" 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=RCV000239523 OR RCV001260803 OR RCV002269266" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239523, RCV001260803, RCV002269266" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239523...</a>
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<p>In a 4-year-old boy with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#7" class="mim-tip-reference" title="Mattioli, F., Piton, A., Gerard, B., Superti-Furga, A., Mandel, J.-L., Unger, S. <strong>Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.</strong> Am. J. Med. Genet. 170A: 1626-1629, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061120</a>] [<a href="https://doi.org/10.1002/ajmg.a.37645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27061120">Mattioli et al. (2016)</a> identified heterozygosity for 2 de novo missense mutations located on the same allele of the ZBTB20 gene: c.1847C-T (c.1847C-T, NM_001164342.1) and c.2221G-A (c.2221G-A, NM_001164342.1) transitions in the last coding exon, resulting in ser616-to-phe (S616F) and gly741-to-arg (G741R) substitutions, respectively, at highly conserved residues within the C2H2 zinc finger domain. Neither mutation was present in his unaffected parents, and allele-specific amplification confirmed that the mutations were in cis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 PRIMROSE SYNDROME</strong>
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ZBTB20, HIS600GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1560110565 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1560110565;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=rs1560110565" 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=rs1560110565" 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=RCV000757893" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000757893" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000757893</a>
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<p>In a 14-year-old boy with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#5" class="mim-tip-reference" title="Grimsdottir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A., Hermann, N. V. <strong>Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.</strong> Clin. Dysmorph. 28: 41-45, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30256248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30256248</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30256248">Grimsdottir et al. (2019)</a> identified heterozygosity for a de novo c.1800C-G transversion (c.1800C-G, NM_001164342.1) in exon 4 of the ZBTB20 gene, resulting in a his600-to-gln (H600Q) substitution at a highly conserved residue in a zinc finger domain thought to be essential for protein stabilization. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in his parents or healthy sibs or in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30256248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 PRIMROSE SYNDROME</strong>
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ZBTB20, 1-BP DEL, 1024C
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003152491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003152491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003152491</a>
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<p>In an 8-year-old boy (patient 1) with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#10" class="mim-tip-reference" title="Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M., Rauch, A. <strong>Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.</strong> Hum. Mutat. 39: 959-964, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29737001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29737001</a>] [<a href="https://doi.org/10.1002/humu.23546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29737001">Stellacci et al. (2018)</a> identified a de novo heterozygous 1-bp deletion (c.1024delC, NM_001164342.2) in exon 4 of the ZBTB20 gene, predicted to result in a frameshift and premature termination (Gln342SerfsTer42), with the mutant protein lacking the entire C-terminal ZNF domain and having disrupted DNA binding capacity. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29737001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 PRIMROSE SYNDROME</strong>
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ZBTB20, THR644ILE
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003152492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003152492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003152492</a>
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<p>In a 3-year-old girl (patient 2) with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#10" class="mim-tip-reference" title="Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M., Rauch, A. <strong>Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.</strong> Hum. Mutat. 39: 959-964, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29737001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29737001</a>] [<a href="https://doi.org/10.1002/humu.23546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29737001">Stellacci et al. (2018)</a> identified a de novo heterozygous c.1931C-T transition (c.1931C-T, NM_001164342.2) in exon 5 of the ZBTB20 gene, resulting in a thr644-to-ile (T644I) substitution at a highly conserved residue in the third ZNF motif. The mutation was found by trio exome sequencing and confirmed by Sanger sequencing. Functional data indicated that the mutation impairs proper binding to DNA, with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29737001" 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">rs1560092633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1560092633;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=rs1560092633" 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=rs1560092633" 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=RCV000768548 OR RCV003768308" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000768548, RCV003768308" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000768548...</a>
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<p>In a 2-year-old (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000899114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000899114</a>) boy with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#4" class="mim-tip-reference" title="Ferreira, L. D., Borges-Medeiros, R. L., Thies, J., Schnur, R. E., Lam, C., de Oliveira, J. R. M. <strong>Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.</strong> Am. J. Med. Genet. 179A: 2228-2232, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31321892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31321892</a>] [<a href="https://doi.org/10.1002/ajmg.a.61297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31321892">Ferreira et al. (2019)</a> identified a heterozygous de novo c.1822T-C transition (c.1822T-C, NM_001164342.2) in exon 5 (coding exon 4) of the ZBTB20 gene, resulting in a cys608-to-arg (C608R) substitution in the second zinc finger domain. The variant was identified by trio exome sequencing and was absent from the gnomAD database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31321892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 PRIMROSE SYNDROME</strong>
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ZBTB20, MET625VAL (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064795382;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1064795382</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1064795382 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064795382;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=rs1064795382" 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=rs1064795382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000484460 OR RCV001266966 OR RCV002252137 OR RCV003766696" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000484460, RCV001266966, RCV002252137, RCV003766696" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000484460...</a>
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<p>By Sanger sequencing in a 28-year-old Brazilian man with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#4" class="mim-tip-reference" title="Ferreira, L. D., Borges-Medeiros, R. L., Thies, J., Schnur, R. E., Lam, C., de Oliveira, J. R. M. <strong>Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.</strong> Am. J. Med. Genet. 179A: 2228-2232, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31321892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31321892</a>] [<a href="https://doi.org/10.1002/ajmg.a.61297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31321892">Ferreira et al. (2019)</a> identified a heterozygous c.1873A-G transition (c.1873A-G, NM_001164342.2) in exon 5 (coding exon 4) of the ZBTB20 gene, resulting in a met625-to-val (M625V) substitution in the second zinc finger domain. The variant was not found in the patient's mother or healthy sibs; paternal DNA was unavailable. The variant was not present in population databases, including gnomAD. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31321892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<strong>.0011 PRIMROSE SYNDROME</strong>
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ZBTB20, HIS656ARG
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003779383" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003779383" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003779383</a>
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<p>In a 13-year-old boy with Primrose syndrome (PRIMS; <a href="/entry/259050">259050</a>), <a href="#2" class="mim-tip-reference" title="Cleaver, R., Berg, J., Craft, E., Foster, A., Gibbons, R. J., Hobson, E., Lachlan, K., Naik, S., Sampson, J. R., Sharif, S., Smithson, S., Deciphering Developmental Disorders Study, Parker, M. J., Tatton-Brown, K. <strong>Refining the Primrose syndrome phenotype: a study of five patients with ZBTB20 de novo variants and a review of the literature.</strong> Am. J. Med. Genet. 179A: 344-349, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30637921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30637921</a>] [<a href="https://doi.org/10.1002/ajmg.a.61024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30637921">Cleaver et al. (2019)</a> identified a heterozygous de novo c.1967A-G transition in the ZBTB20 gene that resulted in a his656-to-arg (H656R) substitution in the third zinc finger domain. The mutation was found by trio-based exome sequencing. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30637921" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Carvalho2011" class="mim-anchor"></a>
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Carvalho, D. R., Speck-Martins, C. E.
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<strong>Additional features of unique Primrose syndrome phenotype.</strong>
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Am. J. Med. Genet. 155A: 1379-1383, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21567911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21567911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21567911" 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.33955" target="_blank">Full Text</a>]
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Cleaver, R., Berg, J., Craft, E., Foster, A., Gibbons, R. J., Hobson, E., Lachlan, K., Naik, S., Sampson, J. R., Sharif, S., Smithson, S., Deciphering Developmental Disorders Study, Parker, M. J., Tatton-Brown, K.
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<strong>Refining the Primrose syndrome phenotype: a study of five patients with ZBTB20 de novo variants and a review of the literature.</strong>
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Am. J. Med. Genet. 179A: 344-349, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30637921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30637921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30637921" 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.61024" target="_blank">Full Text</a>]
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Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others.
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<strong>Mutations in ZBTB20 cause Primrose syndrome.</strong>
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Nature Genet. 46: 815-817, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25017102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25017102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25017102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3035" target="_blank">Full Text</a>]
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<a id="Ferreira2019" class="mim-anchor"></a>
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Ferreira, L. D., Borges-Medeiros, R. L., Thies, J., Schnur, R. E., Lam, C., de Oliveira, J. R. M.
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<strong>Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.</strong>
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Am. J. Med. Genet. 179A: 2228-2232, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31321892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31321892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31321892" 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.61297" target="_blank">Full Text</a>]
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Grimsdottir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A., Hermann, N. V.
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<strong>Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.</strong>
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Clin. Dysmorph. 28: 41-45, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30256248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30256248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30256248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000244" target="_blank">Full Text</a>]
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Harboe, T. L., Tumer, Z., Hansen, C., Jensen, N. A., Tommerup, N.
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<strong>Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.</strong>
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Cytogenet. Cell Genet. 89: 156-157, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965110" 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/10.1159/000015600" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Mattioli2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mattioli, F., Piton, A., Gerard, B., Superti-Furga, A., Mandel, J.-L., Unger, S.
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<strong>Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.</strong>
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Am. J. Med. Genet. 170A: 1626-1629, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061120" 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.37645" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Mitchelmore2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A.
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|
<strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong>
|
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J. Biol. Chem. 277: 7598-7609, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744704" 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.M110023200" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Posmyk2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Posmyk, R., Lesniewicz, R., Chorazy, M., Wolczynski, S.
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<strong>New case of Primrose syndrome with mild intellectual disability.</strong>
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Am. J. Med. Genet. 155A: 2838-2840, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910247" 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.34257" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Stellacci2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M., Rauch, A.
|
|
<strong>Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.</strong>
|
|
Hum. Mutat. 39: 959-964, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29737001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29737001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29737001" 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.23546" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Sutherland2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sutherland, A. P. R., Zhang, H., Zhang, Y., Michaud, M., Xie, Z., Patti, M.-E., Grusby, M. J., Zhang, W. J.
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<strong>Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.</strong>
|
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Molec. Cell. Biol. 29: 2804-2815, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273596[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=19273596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.01667-08" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Xie2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xie, Z., Zhang, H., Tsai, W., Zhang, Y., Du, Y., Zhong, J., Szpirer, C., Zhu, M., Cao, X., Barton, M. C., Grusby, M. J., Zhang, W. J.
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<strong>Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver.</strong>
|
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Proc. Nat. Acad. Sci. 105: 10859-10864, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18669658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18669658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18669658[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=18669658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0800647105" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Zhang2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, W., Mi, J., Li, N., Sui, L., Wan, T., Zhang, J., Chen, T., Cao, X.
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<strong>Identification and characterization of DPZF, a novel human BTB/POZ zinc finger protein sharing homology to BCL-6.</strong>
|
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Biochem. Biophys. Res. Commun. 282: 1067-1073, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11352661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11352661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11352661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.2001.4689" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/16/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 01/31/2023<br>Sonja A. Rasmussen - updated : 02/15/2019<br>Marla J. F. O'Neill - updated : 08/08/2016<br>Marla J. F. O'Neill - updated : 8/27/2014<br>Patricia A. Hartz - updated : 11/1/2011<br>Patricia A. Hartz - updated : 8/31/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 6/15/2001
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/28/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/16/2024<br>carol : 01/31/2023<br>carol : 06/04/2022<br>carol : 01/17/2020<br>carol : 02/15/2019<br>carol : 08/08/2016<br>carol : 08/27/2014<br>mcolton : 8/27/2014<br>mgross : 1/18/2012<br>terry : 11/1/2011<br>mgross : 9/8/2009<br>mgross : 9/8/2009<br>mgross : 9/8/2009<br>terry : 8/31/2009<br>mcapotos : 6/18/2001<br>carol : 6/15/2001
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606025
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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ZINC FINGER PROTEIN 288; ZNF288<br />
|
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DENDRITIC-DERIVED BTB/POZ ZINC FINGER; DPZF<br />
|
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HOF
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZBTB20</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 726709001;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q13.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:114,314,500-115,147,288 </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">
|
|
3q13.31
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Primrose syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
259050
|
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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">
|
|
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">
|
|
<p>ZBTB20 is a member of the POK (POZ and Kruppel) family of transcriptional repressors that interact with DNA via their conserved C2H2 Kruppel-type zinc finger and BTB/POZ domains (Sutherland et al., 2009). </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<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>Using an EST with an incomplete ORF potentially encoding 4 C2H2 zinc finger motifs from a human dendritic cell cDNA library, followed by 5-prime RACE, Zhang et al. (2001) isolated a full-length cDNA clone of a novel zinc finger, ZNF288, which they called DPZF. The deduced 733-amino acid protein has a molecular mass of 80 kD and contains an N-terminal BTB/POZ domain and a C-terminal zinc finger domain with 4 typical Kruppel-type C2H2 motifs. Within the BTB/POZ domain, ZNF288 shares high homology with BCL6 (109565), a POK protein putatively involved in lymphopoiesis. Northern blot analysis detected expression of ZNF288 in spleen, lymph node, thymus, peripheral blood leukocytes, and fetal liver; no expression was found in bone marrow. Two transcripts of approximately 7.4 kb and 2.8 kb were present in most of the tissues, with the 2.8-kb transcript predominant in spleen, lymph node, and peripheral blood leukocytes. RT-PCR analysis detected expression in dendritic cells, monocytes, B cells, and T cells. Expression of a 100-kD ZNF288 protein was detectable in lymphoid neoplasm, especially B lymphoma. The authors suggested that ZNF288 may be a transcription factor closely related to BCL6 and may be involved in hematopoiesis, oncogenesis, and immune responses. </p><p>By subtractive cloning to identify mRNAs expressed in mouse oligodendrocytes, Mitchelmore et al. (2002) cloned 2 major splice variants of mouse Zbtb20, which they called Hofl and Hofs. The deduced proteins contain 741 and 668 amino acids, respectively, and are 97% identical to their human counterparts. Hofl and Hofs differ only at their N termini, with Hofs lacking the first 73 amino acids of Hofl. Mitchelmore et al. (2002) also sequenced 4 additional splice variants encoding the same protein as Hofl, and 2 additional splice variants encoding the same protein as Hofs. Western blot analysis of in vitro-translated Hofl resulted in proteins corresponding to both Hofl and Hofs, suggesting that the Hofl translational start site is suboptimal. Immunohistochemical analysis of developing mouse brain showed that Hofl and Hofs were specifically expressed in early hippocampal neurons, cerebellar granule cells, and gliogenic progenitors, as well as in differentiated glia. In developing cerebral cortex, Hof expression was restricted to the hippocampal subdivision, and expression coincided with early differentiation of presumptive CA1 and CA3 pyramidal neurons and dentate gyrus granule cells, with a sharp decline in expression at the CA1/subicular border. Hof expression was downregulated in differentiated hippocampal cells. </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>Mitchelmore et al. (2002) determined that the ZBTB20 gene contains 11 exons and may span up to 700 kb. Exons 8 and 10 have translational start sites. </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 and radiation hybrid analysis, Harboe et al. (2000) mapped the ZNF288 gene to chromosome 3q13.2. </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>The alpha-fetoprotein gene (AFP; 104150) is highly activated in fetal liver but is dramatically repressed shortly after birth. Using chromatin immunoprecipitation analysis and reporter gene assays, Xie et al. (2008) showed that mouse Zbtb20 bound to the Afp promoter and inhibited Afp transcription in a dose-dependent manner. Immunohistochemical analysis showed that Zbtb20 was expressed in the nucleus of adult mouse hepatocytes. Furthermore, RT-PCR and Western blot analysis demonstrated an inverse relationship in the expression of Zbtb20 and Afp in fetal and adult liver. </p><p>Using protein pull-down assays, Mitchelmore et al. (2002) showed that mouse Hofl and Hofs interacted strongly in both homotypic and heterotypic interactions and that the BTB/POZ domain seemed to be the major interaction interface. Isolated Hof zinc fingers bound a DNA sequence that interacts with PLZF (ZBTB16; 176797). </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>In 8 patients with Primrose syndrome (PRIMS; 259050), Cordeddu et al. (2014) identified heterozygosity for de novo missense variants in the ZBTB20 gene (see, e.g., 606025.0001-606025.0004). Functional analysis showed strongly reduced DNA binding for all mutants compared to wildtype, and results were consistent with the mutations having a dominant-negative impact on the wildtype allele. </p><p>In a 4-year-old boy with Primrose syndrome, Mattioli et al. (2016) identified heterozygosity for 2 de novo missense mutations on the same allele of the ZBTB20 gene (606025.0005). </p><p>In a 14-year-old boy with Primrose syndrome, Grimsdottir et al. (2019) identified heterozygosity for a de novo missense mutation in the ZBTB20 gene (H600Q; 606025.0006). </p><p>In 2 unrelated patients with Primrose syndrome, Stellacci et al. (2018) identified de novo heterozygous mutations in the ZBTB20 gene: the first reported frameshift mutation (c.1024delC; 606025.0007) and a missense mutation (T644I; 606025.0008) in the third zinc finger motif of the protein. The authors noted that previously reported mutations occurred in the first and second zinc finger motifs. Functional data showed that both mutations result in stable but dysfunctional proteins characterized by impaired binding to DNA, consistent with a dominant-negative effect. </p><p>In a 2-year-old boy and an unrelated 27-year-old man with Primrose syndrome, Ferreira et al. (2019) identified heterozygous missense mutations in the ZBTB20 gene. The boy carried a de novo cys608-to-arg (C608R; 606025.0009) substitution, and the man carried a met625-to-val (M625V; 606025.0010) substitution. The mutations in both patients occurred in the last coding exon of the ZBTB20 gene and in the second zinc finger domain of the ZBTB20 protein. Neither variant was present in large population databases, including gnomAD. </p><p>By trio exome sequencing in 5 unrelated patients with Primrose syndrome, Cleaver et al. (2019) identified de novo missense mutations in the ZBTB20 gene. Consistent with previous reports, all 5 mutations occurred within the C2H2 zinc finger domains. Two of the patients (patients 4 and 5) had mutations in the third zinc finger domain (e.g., 606025.0011), where only 2 mutations had previously been identified. Mosaicism for the variant in blood and saliva was noted in patient 4. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Xie et al. (2008) created mice with Zbtb20 knockout directed to liver. These mice were born at the expected ratio and appeared normal, with livers of normal size and architecture. Mutant hepatocytes differentiated normally. RT-PCR showed that adult Zbtb20-knockout liver expressed Afp mRNA levels about 3,000-fold higher than normal adult liver. Afp mRNA was activated gradually in both wildtype and Zbtb20-knockout fetal liver, but only wildtype liver showed a precipitous decline in Afp expression in the first 4 weeks of life. Afp mRNA levels declined less than 5-fold and remained high in Zbtb20-knockout liver, suggesting a failure of transcriptional shutoff. Xie et al. (2008) concluded that ZBTB20 is a key regulator that blocks AFP expression in adult liver. </p><p>Sutherland et al. (2009) found that Zbtb20 -/- mice were born at mendelian frequencies, but that they exhibited growth retardation accompanied by hypoglycemia, and all died by 12 weeks of age. All tissues except hippocampus appeared normal. Comprehensive serum chemistry analysis revealed severe widespread metabolic dysfunction, including abnormal glucose homeostasis and hormonal responses. Zbtb20 -/- mice were hypoglycemic in both the fed and fasted states and showed almost complete absence of glycogen stores. Microarray analysis revealed significant changes in expression of transcripts involved in growth, glucose metabolism, and detoxification. Reexpression of Zbtb20 specifically in livers of Zbtb20 -/- mice resulted in no significant normalization of growth or glucose metabolism, but it significantly increased life span compared with Zbtb20 -/- mice. Sutherland et al. (2009) concluded that the phenotype of Zbtb20 -/- mice results from liver-dependent and liver-independent defects. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>11 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PRIMROSE 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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ZBTB20, HIS596ARG
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<br />
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SNP: rs483353066,
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ClinVar: RCV000133612
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an 8-year-old girl with Primrose syndrome (PRIMS; 259050), Cordeddu et al. (2014) identified heterozygosity for a de novo c.1787A-G transition in exon 3 of the ZBTB20 gene, resulting in a his596-to-arg (H596R) substitution at a highly conserved residue, located in the first zinc finger, that coordinates the Zn(2+) ion. Transient transfection experiments in HEK293T cells showed nuclear localization of the mutant, although a distinctive nonhomogeneous distribution pattern suggestive of protein aggregation was observed. Treatment with CSK buffer indicated that the H596R mutant loosely interacted with chromatin, in contrast to wildtype protein. DNA-binding assays demonstrated strongly reduced DNA binding for the H596R mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the H596R mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PRIMROSE 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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|
ZBTB20, LEU621PHE
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<br />
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SNP: rs483353070,
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|
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ClinVar: RCV000133613
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</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old man with Primrose syndrome (PRIMS; 259050), originally reported by Carvalho and Speck-Martins (2011), Cordeddu et al. (2014) identified heterozygosity for a de novo c.1861C-T transition in exon 4 of the ZBTB20 gene, resulting in a leu621-to-phe (L621F) substitution at a highly conserved residue in the second zinc finger. Assays in transfected HEK293T cells demonstrated strongly reduced DNA binding for the L621F mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the L621F mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PRIMROSE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ZBTB20, LYS590GLN
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|
<br />
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|
|
SNP: rs483353064,
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|
|
ClinVar: RCV000133615
|
|
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|
|
|
</span>
|
|
</div>
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 31-year-old man with Primrose syndrome (PRIMS; 259050), originally reported by Posmyk et al. (2011), Cordeddu et al. (2014) identified heterozygosity for a de novo c.1768A-C transversion in exon 3 of the ZBTB20 gene, resulting in a lys590-to-gln (K590Q) substitution at a highly conserved residue in the first zinc finger. Transient transfection experiments in HEK293T cells showed nuclear localization of the mutant, although a distinctive nonhomogeneous distribution pattern suggestive of protein aggregation was observed. Treatment with CSK buffer indicated that the K590Q mutant loosely interacted with chromatin, in contrast to wildtype protein. DNA-binding assays demonstrated strongly reduced DNA binding for the K590Q mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the K590Q mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. </p>
|
|
</span>
|
|
</div>
|
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PRIMROSE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ZBTB20, GLY602ALA
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|
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<br />
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|
|
SNP: rs483353068,
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|
|
|
|
|
|
|
ClinVar: RCV000133614
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 43-year-old man with Primrose syndrome (PRIMS; 259050), Cordeddu et al. (2014) identified heterozygosity for a de novo c.1805G-C transversion in exon 4 of the ZBTB20 gene, resulting in a gly602-to-ala (G602A) substitution at a highly conserved residue in the linker between the first and second zinc finger motifs. Assays in transfected HEK293T cells demonstrated strongly reduced DNA binding for the G602A mutant, which correlated with strongly reduced ability to repress transcription of a reporter gene. Reduced levels of DNA-bound ZBTB20 and less efficient AFP promoter repression were also observed in cells coexpressing the wildtype protein and the G602A mutant, consistent with a dominant-negative effect of the mutant on the wildtype allele. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PRIMROSE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZBTB20, SER616PHE AND GLY741ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs150263896, rs879255635,
|
|
|
|
|
|
gnomAD: rs150263896,
|
|
|
|
|
|
ClinVar: RCV000239523, RCV001260803, RCV002269266
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old boy with Primrose syndrome (PRIMS; 259050), Mattioli et al. (2016) identified heterozygosity for 2 de novo missense mutations located on the same allele of the ZBTB20 gene: c.1847C-T (c.1847C-T, NM_001164342.1) and c.2221G-A (c.2221G-A, NM_001164342.1) transitions in the last coding exon, resulting in ser616-to-phe (S616F) and gly741-to-arg (G741R) substitutions, respectively, at highly conserved residues within the C2H2 zinc finger domain. Neither mutation was present in his unaffected parents, and allele-specific amplification confirmed that the mutations were in cis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PRIMROSE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZBTB20, HIS600GLN
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<br />
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|
|
SNP: rs1560110565,
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|
|
ClinVar: RCV000757893
|
|
|
|
|
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</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old boy with Primrose syndrome (PRIMS; 259050), Grimsdottir et al. (2019) identified heterozygosity for a de novo c.1800C-G transversion (c.1800C-G, NM_001164342.1) in exon 4 of the ZBTB20 gene, resulting in a his600-to-gln (H600Q) substitution at a highly conserved residue in a zinc finger domain thought to be essential for protein stabilization. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in his parents or healthy sibs or in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PRIMROSE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
ZBTB20, 1-BP DEL, 1024C
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<br />
|
|
|
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|
|
|
ClinVar: RCV003152491
|
|
|
|
|
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</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old boy (patient 1) with Primrose syndrome (PRIMS; 259050), Stellacci et al. (2018) identified a de novo heterozygous 1-bp deletion (c.1024delC, NM_001164342.2) in exon 4 of the ZBTB20 gene, predicted to result in a frameshift and premature termination (Gln342SerfsTer42), with the mutant protein lacking the entire C-terminal ZNF domain and having disrupted DNA binding capacity. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PRIMROSE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
ZBTB20, THR644ILE
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<br />
|
|
|
|
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|
|
|
ClinVar: RCV003152492
|
|
|
|
|
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</span>
|
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</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old girl (patient 2) with Primrose syndrome (PRIMS; 259050), Stellacci et al. (2018) identified a de novo heterozygous c.1931C-T transition (c.1931C-T, NM_001164342.2) in exon 5 of the ZBTB20 gene, resulting in a thr644-to-ile (T644I) substitution at a highly conserved residue in the third ZNF motif. The mutation was found by trio exome sequencing and confirmed by Sanger sequencing. Functional data indicated that the mutation impairs proper binding to DNA, with a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-font">
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<strong>.0009 PRIMROSE SYNDROME</strong>
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ZBTB20, CYS608ARG
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<br />
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SNP: rs1560092633,
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ClinVar: RCV000768548, RCV003768308
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<p>In a 2-year-old (SCV000899114) boy with Primrose syndrome (PRIMS; 259050), Ferreira et al. (2019) identified a heterozygous de novo c.1822T-C transition (c.1822T-C, NM_001164342.2) in exon 5 (coding exon 4) of the ZBTB20 gene, resulting in a cys608-to-arg (C608R) substitution in the second zinc finger domain. The variant was identified by trio exome sequencing and was absent from the gnomAD database. Functional studies of the variant were not performed. </p>
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<span class="mim-font">
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<strong>.0010 PRIMROSE SYNDROME</strong>
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</span>
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<span class="mim-text-font">
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ZBTB20, MET625VAL ({dbSNP rs1064795382})
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<br />
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SNP: rs1064795382,
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ClinVar: RCV000484460, RCV001266966, RCV002252137, RCV003766696
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<p>By Sanger sequencing in a 28-year-old Brazilian man with Primrose syndrome (PRIMS; 259050), Ferreira et al. (2019) identified a heterozygous c.1873A-G transition (c.1873A-G, NM_001164342.2) in exon 5 (coding exon 4) of the ZBTB20 gene, resulting in a met625-to-val (M625V) substitution in the second zinc finger domain. The variant was not found in the patient's mother or healthy sibs; paternal DNA was unavailable. The variant was not present in population databases, including gnomAD. Functional studies of the variant were not performed. </p>
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<span class="mim-font">
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<strong>.0011 PRIMROSE SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ZBTB20, HIS656ARG
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<br />
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ClinVar: RCV003779383
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<span class="mim-text-font">
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<p>In a 13-year-old boy with Primrose syndrome (PRIMS; 259050), Cleaver et al. (2019) identified a heterozygous de novo c.1967A-G transition in the ZBTB20 gene that resulted in a his656-to-arg (H656R) substitution in the third zinc finger domain. The mutation was found by trio-based exome sequencing. Functional studies of the variant were not performed. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Carvalho, D. R., Speck-Martins, C. E.
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<strong>Additional features of unique Primrose syndrome phenotype.</strong>
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Am. J. Med. Genet. 155A: 1379-1383, 2011.
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[PubMed: 21567911]
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[Full Text: https://doi.org/10.1002/ajmg.a.33955]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cleaver, R., Berg, J., Craft, E., Foster, A., Gibbons, R. J., Hobson, E., Lachlan, K., Naik, S., Sampson, J. R., Sharif, S., Smithson, S., Deciphering Developmental Disorders Study, Parker, M. J., Tatton-Brown, K.
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<strong>Refining the Primrose syndrome phenotype: a study of five patients with ZBTB20 de novo variants and a review of the literature.</strong>
|
|
Am. J. Med. Genet. 179A: 344-349, 2019.
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[PubMed: 30637921]
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[Full Text: https://doi.org/10.1002/ajmg.a.61024]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., and 15 others.
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|
<strong>Mutations in ZBTB20 cause Primrose syndrome.</strong>
|
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Nature Genet. 46: 815-817, 2014.
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[PubMed: 25017102]
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[Full Text: https://doi.org/10.1038/ng.3035]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ferreira, L. D., Borges-Medeiros, R. L., Thies, J., Schnur, R. E., Lam, C., de Oliveira, J. R. M.
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<strong>Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.</strong>
|
|
Am. J. Med. Genet. 179A: 2228-2232, 2019.
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[PubMed: 31321892]
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[Full Text: https://doi.org/10.1002/ajmg.a.61297]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Grimsdottir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A., Hermann, N. V.
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<strong>Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.</strong>
|
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Clin. Dysmorph. 28: 41-45, 2019.
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[PubMed: 30256248]
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[Full Text: https://doi.org/10.1097/MCD.0000000000000244]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Harboe, T. L., Tumer, Z., Hansen, C., Jensen, N. A., Tommerup, N.
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<strong>Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation.</strong>
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|
Cytogenet. Cell Genet. 89: 156-157, 2000.
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[PubMed: 10965110]
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[Full Text: https://doi.org/10.1159/000015600]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mattioli, F., Piton, A., Gerard, B., Superti-Furga, A., Mandel, J.-L., Unger, S.
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<strong>Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.</strong>
|
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Am. J. Med. Genet. 170A: 1626-1629, 2016.
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[PubMed: 27061120]
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[Full Text: https://doi.org/10.1002/ajmg.a.37645]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mitchelmore, C., Kjaerulff, K. M., Pedersen, H. C., Nielsen, J. V., Rasmussen, T. E., Fisker, M. F., Finsen, B., Pedersen, K. M., Jensen, N. A.
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<strong>Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms: association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia.</strong>
|
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J. Biol. Chem. 277: 7598-7609, 2002.
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[PubMed: 11744704]
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[Full Text: https://doi.org/10.1074/jbc.M110023200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Posmyk, R., Lesniewicz, R., Chorazy, M., Wolczynski, S.
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<strong>New case of Primrose syndrome with mild intellectual disability.</strong>
|
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Am. J. Med. Genet. 155A: 2838-2840, 2011.
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[PubMed: 21910247]
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[Full Text: https://doi.org/10.1002/ajmg.a.34257]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M., Rauch, A.
|
|
<strong>Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.</strong>
|
|
Hum. Mutat. 39: 959-964, 2018.
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[PubMed: 29737001]
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[Full Text: https://doi.org/10.1002/humu.23546]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sutherland, A. P. R., Zhang, H., Zhang, Y., Michaud, M., Xie, Z., Patti, M.-E., Grusby, M. J., Zhang, W. J.
|
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<strong>Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.</strong>
|
|
Molec. Cell. Biol. 29: 2804-2815, 2009.
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[PubMed: 19273596]
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[Full Text: https://doi.org/10.1128/MCB.01667-08]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xie, Z., Zhang, H., Tsai, W., Zhang, Y., Du, Y., Zhong, J., Szpirer, C., Zhu, M., Cao, X., Barton, M. C., Grusby, M. J., Zhang, W. J.
|
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<strong>Zinc finger protein ZBTB20 is a key repressor of alpha-fetoprotein gene transcription in liver.</strong>
|
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Proc. Nat. Acad. Sci. 105: 10859-10864, 2008.
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[PubMed: 18669658]
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[Full Text: https://doi.org/10.1073/pnas.0800647105]
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<li>
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<p class="mim-text-font">
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Zhang, W., Mi, J., Li, N., Sui, L., Wan, T., Zhang, J., Chen, T., Cao, X.
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<strong>Identification and characterization of DPZF, a novel human BTB/POZ zinc finger protein sharing homology to BCL-6.</strong>
|
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Biochem. Biophys. Res. Commun. 282: 1067-1073, 2001.
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[PubMed: 11352661]
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[Full Text: https://doi.org/10.1006/bbrc.2001.4689]
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Sonja A. Rasmussen - updated : 02/16/2024<br>Sonja A. Rasmussen - updated : 01/31/2023<br>Sonja A. Rasmussen - updated : 02/15/2019<br>Marla J. F. O'Neill - updated : 08/08/2016<br>Marla J. F. O'Neill - updated : 8/27/2014<br>Patricia A. Hartz - updated : 11/1/2011<br>Patricia A. Hartz - updated : 8/31/2009
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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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