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Entry
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- *601656 - GATA-BINDING PROTEIN 6; GATA6
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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">*601656</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/601656">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000141448;t=ENST00000269216" 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=2627" 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=601656" 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 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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</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=ENSG00000141448;t=ENST00000269216" 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_005257,XM_047437483" 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_005257" 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=601656" 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=09043&isoform_id=09043_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/GATA6" 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/1655915,1877210,2506076,40288197,62898826,116283505,119621542,167887577,215273987,2217316707" 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/Q92908" 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=2627" 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=ENSG00000141448;t=ENST00000269216" 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=GATA6" 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=GATA6" 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+2627" 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/GATA6" 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:2627" 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/2627" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr18&hgg_gene=ENST00000269216.10&hgg_start=22169589&hgg_end=22202528&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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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4174" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4174" 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=601656[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=601656[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/GATA6/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/ENSG00000141448" 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.gwascentral.org/search?q=GATA6" 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=GATA6" 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=GATA6&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/PA28589" 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:4174" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0003117.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:107516" 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/GATA6#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:107516" 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/2627/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://omia.org/OMIA002559/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2627" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001250;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-000622-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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=GATA6&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> 61959006, 722206009, 787779000, 86299006<br />
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<strong>ICD10CM:</strong> Q20.0, Q21.3<br />
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<strong>ICD9CM:</strong> 745.0, 745.2<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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601656
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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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GATA-BINDING PROTEIN 6; GATA6
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GATA6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GATA6</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>
|
|
Cytogenetic location: <a href="/geneMap/18/88?start=-3&limit=10&highlight=88">18q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:22169589-22202528&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">18:22,169,589-22,202,528</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<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>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614475,614474,600001,217095,187500" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/88?start=-3&limit=10&highlight=88">
|
|
18q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial septal defect 9
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614475"> 614475 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Atrioventricular septal defect 5
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614474"> 614474 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pancreatic agenesis and congenital heart defects
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/600001"> 600001 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/217095"> 217095 </a>
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<p>GATA factors constitute a family of transcriptional regulatory proteins expressed with distinct developmental and tissue-specific profiles and are thought to regulate cell-restricted programs of gene expression. <a href="#12" class="mim-tip-reference" title="Suzuki, E., Evans, T., Lowry, J., Truong, L., Bell, D. W., Testa, J. R., Walsh, K. <strong>The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.</strong> Genomics 38: 283-290, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975704</a>] [<a href="https://doi.org/10.1006/geno.1996.0630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975704">Suzuki et al. (1996)</a> described the molecular cloning, chromosomal location, and the transcription of the human GATA6 gene. The cDNA encodes a predicted 449-amino acid protein that is highly conserved among vertebrates and includes 2 adjacent zinc finger/basic domains characteristic of the GATA factor family. The gene is transcribed in a pattern overlapping that of GATA4 (<a href="/entry/600576">600576</a>). Transcripts for both of these genes are prominent in heart, pancreas, and ovary, but only GATA6 mRNA was found in lung and liver. GATA6 transcripts were also detected in cultures of human and rat vascular smooth muscle cells. In these cells, GATA6 transcripts were downregulated when quiescent cultures were stimulated to proliferate in response to mitogen activation. The results demonstrate that GATA6 is subject to both tissue-specific and mitogen-responsive regulatory signals. <a href="#12" class="mim-tip-reference" title="Suzuki, E., Evans, T., Lowry, J., Truong, L., Bell, D. W., Testa, J. R., Walsh, K. <strong>The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.</strong> Genomics 38: 283-290, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975704</a>] [<a href="https://doi.org/10.1006/geno.1996.0630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975704">Suzuki et al. (1996)</a> commented that GATA6 is a prime candidate for a gene that regulates the differentiative state of vascular smooth muscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Maitra, M., Koenig, S. N., Srivastava, D., Garg, V. <strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong> Pediat. Res. 68: 281-285, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20581743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20581743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20581743[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/10.1203/PDR.0b013e3181ed17e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20581743">Maitra et al. (2010)</a> performed in situ hybridization in wildtype mouse embryos at embryonic day 13.5 and observed higher levels of expression of GATA6 in the atrial and ventricular myocardium than in the atrioventricular valve leaflets. The highest levels of GATA6 expression were seen in the smooth muscle cells of the aorta and pulmonary artery, whereas lower levels were detectable in pulmonary valve leaflets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20581743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#12" class="mim-tip-reference" title="Suzuki, E., Evans, T., Lowry, J., Truong, L., Bell, D. W., Testa, J. R., Walsh, K. <strong>The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.</strong> Genomics 38: 283-290, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975704</a>] [<a href="https://doi.org/10.1006/geno.1996.0630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975704">Suzuki et al. (1996)</a> mapped the GATA6 gene to 18q11.1-q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Laitinen, M. P. E., Anttonen, M., Ketola, I., Wilson, D. B., Ritvos, O., Butzow, R., Heikinheimo, M. <strong>Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.</strong> J. Clin. Endocr. Metab. 85: 3476-3483, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10999851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10999851</a>] [<a href="https://doi.org/10.1210/jcem.85.9.6828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10999851">Laitinen et al. (2000)</a> examined the expression of GATA4 and GATA6 in human ovaries, human granulosa-luteal (GL) cells, and sex cord-derived tumors. They showed by in situ hybridization and immunohistochemistry that GATA4 and GATA6 mRNA and GATA4 protein are present in granulosa and theca cells in both preantral and antral follicles. Both human ovarian tissue samples and freshly isolated GL cells derived from preovulatory follicles of gonadotropin-treated women expressed GATA4, GATA6, and FOG2 (<a href="/entry/603693">603693</a>) transcripts, and GATA6 mRNA expression in GL cell cultures was stimulated by human CG (see <a href="/entry/118860">118860</a>) and 8-bromo-cAMP. The vast majority of granulosa and theca cell tumors examined expressed GATA4 and GATA6. They also found that mRNA for FOG2, a regulator of GATA4, is coexpressed with GATA4 in human ovary samples, normal granulosa cells, and in sex cord-derived tumors. The authors concluded that their findings support a role for GATA-binding proteins in human ovarian folliculogenesis. Moreover, they suggested that GATA factors may contribute to the phenotypes of sex cord-derived ovarian tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10999851" 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="#4" class="mim-tip-reference" title="Ketola, I., Toppari, J., Vaskivuo, T., Herva, R., Tapanainen, J. S., Heikinheimo, M. <strong>Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.</strong> J. Clin. Endocr. Metab. 88: 1858-1865, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12679484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12679484</a>] [<a href="https://doi.org/10.1210/jc.2002-021647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12679484">Ketola et al. (2003)</a> studied GATA6 expression in human fetal testis using in situ hybridization and immunohistochemistry and compared these results with the expression of the apoptosis-related proteins BCL2 (<a href="/entry/151430">151430</a>) and BAX (<a href="/entry/600040">600040</a>). Apoptotic cells were scanty between weeks 16 and 40, and proliferation ceased during the third trimester, supporting the view that little tissue remodeling occurs in the late fetal testis. The authors concluded that despite strong expression, GATA6 did not correlate with apoptosis or cell proliferation and is therefore unlikely to be directly involved in these processes in the human fetal testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12679484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ho, C. K. M., Wood, J. R., Stewart, D. R., Ewens, K., Ankener, W., Wickenheisser, J., Nelson-Degrave, V., Zhang, Z., Legro, R. S., Dunaif, A., McAllister, J. M., Spielman, R., Strauss, J. F., III. <strong>Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.</strong> J. Clin. Endocr. Metab. 90: 6596-6602, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159937</a>] [<a href="https://doi.org/10.1210/jc.2005-0890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159937">Ho et al. (2005)</a> studied why GATA6 mRNA levels are increased in polycystic ovary syndrome (PCOS; <a href="/entry/184700">184700</a>) theca cells. By quantitative RT-PCR analysis, they showed that nascent GATA6 transcript levels, which reflect GATA6 gene transcription, were significantly increased in PCOS theca cells. In normal theca cells, GATA6 mRNA had a short half-life, which was attributed to an AU-rich 3-prime untranslated region sequence; in PCOS theca cells, the half-life of GATA6 transcripts was significantly longer. <a href="#2" class="mim-tip-reference" title="Ho, C. K. M., Wood, J. R., Stewart, D. R., Ewens, K., Ankener, W., Wickenheisser, J., Nelson-Degrave, V., Zhang, Z., Legro, R. S., Dunaif, A., McAllister, J. M., Spielman, R., Strauss, J. F., III. <strong>Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.</strong> J. Clin. Endocr. Metab. 90: 6596-6602, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159937</a>] [<a href="https://doi.org/10.1210/jc.2005-0890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159937">Ho et al. (2005)</a> identified no sequence variations in the GATA6 gene that were associated with PCOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kamnasaran, D., Qian, B., Hawkins, C., Stanford, W. L., Guha, A. <strong>GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model.</strong> Proc. Nat. Acad. Sci. 104: 8053-8058, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17463088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17463088</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17463088[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.0611669104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17463088">Kamnasaran et al. (2007)</a> identified Gata6 as a tumor suppressor by screening for genetic modifiers that accelerated transformation in a mouse malignant astrocytoma model. Loss of Gata6 resulted in enhanced proliferation and transformation of astrocytes. Human malignant astrocytoma cell lines, explant xenografts, and operative specimens demonstrated loss of GATA6 expression. Loss-of-function GATA6 mutations with loss of heterozygosity at the GATA6 locus were found in human malignant astrocytoma specimens, but not in lower grade astrocytomas or normal adult astrocytes. Knockdown of GATA6 expression led to accelerated tumorigenesis in p53 -/- mouse astrocytes and in human astrocytes expressing activated HRAS (<a href="/entry/190020">190020</a>). Conversely, elevated GATA6 expression in human malignant astrocytoma cells reduced their tumorigenic growth and decreased VEGF (<a href="/entry/192240">192240</a>) expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17463088" 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 transgenic mouse system, <a href="#5" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> observed that mutation of conserved GATA consensus sites on enhancer elements of the downstream target genes Sema3c (<a href="/entry/602645">602645</a>) and Plxna2 (<a href="/entry/601054">601054</a>) abolished their activity in the cardiac outflow tract (OFT) and subpulmonary myocardium, and in cardiac neural crest derivatives in the OFT region, respectively. <a href="#5" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> concluded that there is direct regulation of SEMA3C and PLXNA2 expression through binding of GATA transcription factors, including GATA6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666519" 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="Rosas, M., Davies, L. C., Giles, P. J., Liao, C.-T., Kharfan, B., Stone, T. C., O'Donnell, V. B., Fraser, D. J., Jones, S. A., Taylor, P. R. <strong>The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.</strong> Science 344: 645-648, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24762537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24762537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24762537[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/10.1126/science.1251414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24762537">Rosas et al. (2014)</a> determined a transcriptional profile for the major self-renewing population of peritoneal macrophages in mice. These cells specifically expressed the transcription factor Gata6. Selective deficiency of Gata6 in myeloid cells caused substantial alterations in the transcriptome of peritoneal macrophages. Gata6 deficiency also resulted in dysregulated peritoneal macrophage proliferative renewal during homeostasis and in response to inflammation, which was associated with delays in the resolution of inflammation. <a href="#11" class="mim-tip-reference" title="Rosas, M., Davies, L. C., Giles, P. J., Liao, C.-T., Kharfan, B., Stone, T. C., O'Donnell, V. B., Fraser, D. J., Jones, S. A., Taylor, P. R. <strong>The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.</strong> Science 344: 645-648, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24762537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24762537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24762537[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/10.1126/science.1251414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24762537">Rosas et al. (2014)</a> concluded that the tissue macrophage phenotype is under discrete tissue-selective transcriptional control and that this is fundamentally linked to the regulation of proliferation renewal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24762537" 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="#5" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> screened the genomes of 21 unrelated Japanese patients with nonsyndromic persistent truncus arteriosus (PTA; see <a href="/entry/217095">217095</a>) and identified heterozygosity for a 2-bp deletion (<a href="#0001">601656.0001</a>) and a missense mutation (<a href="#0002">601656.0002</a>) in the GATA6 gene, respectively, in 2 probands. The deletion segregated with congenital heart disease in the family of the first proband, whereas the second proband's mutation was de novo. Neither was found in 182 Japanese controls. In vitro analysis demonstrated that the mutants were unable to activate the GATA6-dependent cardiac promoters NPPA (<a href="/entry/108780">108780</a>), WNT2 (<a href="/entry/147870">147870</a>), SEMA3C (<a href="/entry/602645">602645</a>), and PLXNA2 (<a href="/entry/601054">601054</a>), and there was reduced binding efficiency to the latter 2 promoters, suggesting that each of the GATA6 mutations disturbs semaphorin-plexin signaling to varying degrees, resulting in abnormal development of the cardiac outflow tract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Maitra, M., Koenig, S. N., Srivastava, D., Garg, V. <strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong> Pediat. Res. 68: 281-285, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20581743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20581743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20581743[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/10.1203/PDR.0b013e3181ed17e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20581743">Maitra et al. (2010)</a> sequenced all 7 exons of the GATA6 gene in 310 children with a spectrum of congenital heart defects, and identified heterozygosity for 2 different missense mutations at highly conserved residues (<a href="#0003">601656.0003</a> and <a href="#0004">601656.0004</a>, respectively) in 1 patient with isolated tetralogy of Fallot (TOF; <a href="/entry/187500">187500</a>) and in 1 patient with atrioventricular septal defect (AVSD5; <a href="/entry/614474">614474</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20581743" 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="#8" class="mim-tip-reference" title="Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H, Yan, B., Liu, Y., Yang, Y., Chen, Y.-H. <strong>A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.</strong> J. Hum. Genet. 55: 662-667, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631719</a>] [<a href="https://doi.org/10.1038/jhg.2010.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631719">Lin et al. (2010)</a> analyzed the coding region and exon-intron boundaries of the GATA6 gene in 270 sporadic Chinese patients with congenital heart defects and identified a heterozygous missense mutation (S184N; <a href="#0005">601656.0005</a>) in 3 patients, 2 with atrial septal defect (ASD9; <a href="/entry/614475">614475</a>) and 1 with tetralogy of Fallot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20631719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> performed exome sequencing in 2 unrelated patients with pancreatic agenesis and congenital heart defects (HDCA; <a href="/entry/600001">600001</a>) and their unaffected parents and identified heterozygosity for a de novo mutation in the GATA6 gene (<a href="#0006">601656.0006</a> and <a href="#0007">601656.0007</a>) in each proband. Subsequent analysis of GATA6 in another 24 probands with pancreatic agenesis who were negative for mutation in the PTF1A (<a href="/entry/607194">607194</a>) and PDX1 (<a href="/entry/600733">600733</a>) genes revealed 12 mutations in 13 of the probands (see, e.g., <a href="#0008">601656.0008</a>-<a href="#0011">601656.0011</a>). <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> noted that 14 of the 15 mutation-positive patients had congenital heart defects in addition to pancreatic agenesis, and other malformations or abnormalities were common in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" 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 an affected female member of a Japanese family with congenital heart defects and pancreatic agenesis who was negative for mutation in 8 other genes associated with pancreatic development and/or function, <a href="#14" class="mim-tip-reference" title="Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N. <strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong> J. Med. Genet. 49: 642-643, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962692</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962692">Yorifuji et al. (2012)</a> analyzed the GATA6 gene and identified heterozygosity for a 2-bp deletion (<a href="#0012">601656.0012</a>). The authors noted that unlike previously reported patients with pancreatic agenesis and congenital heart defects, in whom de novo mutations caused complete agenesis or pronounced hypoplasia of the pancreas, the dominantly inherited mutation in this family resulted in a variable degree of pancreatic hypoplasia, severity of diabetes, and types of congenital cardiac defects present among the affected members of this family. <a href="#14" class="mim-tip-reference" title="Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N. <strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong> J. Med. Genet. 49: 642-643, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962692</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962692">Yorifuji et al. (2012)</a> concluded that this observation broadened the clinical spectrum of diabetes caused by GATA6 haploinsufficiency, and that intrafamilial variability in phenotypic expression is relevant to the genetic counseling of such families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22962692" 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 5 affected individuals from 3 unrelated families with congenital diaphragmatic hernia and cardiac defects, <a href="#16" class="mim-tip-reference" title="Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others. <strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong> J. Med. Genet. 51: 197-202, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24385578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24385578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24385578[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/10.1136/jmedgenet-2013-101989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24385578">Yu et al. (2014)</a> identified heterozygosity for mutations in the GATA6 gene (see <a href="#0008">601656.0008</a> and <a href="#0013">601656.0013</a>-<a href="#0014">601656.0014</a>). There was no evidence for hyperglycemia or pancreatic insufficiency in any of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24385578" 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="#10" class="mim-tip-reference" title="Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S., Parmacek, M. S. <strong>GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.</strong> Genes Dev. 12: 3579-3590, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832509[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/10.1101/gad.12.22.3579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832509">Morrisey et al. (1998)</a> generated mice deficient in GATA6 by targeted disruption. Differentiated embryoid bodies derived from GATA6 -/- embryonic stem (ES) cells lacked a covering layer of visceral endoderm and severely attenuated, or failed to express, genes encoding early and late endodermal markers, including HNF4 (<a href="/entry/600281">600281</a>), GATA4, alpha-fetoprotein (AFP; <a href="/entry/104150">104150</a>), and HNF3-beta (<a href="/entry/600288">600288</a>). Homozygous GATA6 -/- mice died between embryonic days 6.5 and 7.5 and exhibited a specific defect in endoderm differentiation, including severely downregulated expression of GATA4 and the absence of HNF4 gene expression. Moreover, widespread programmed cell death was observed within the embryonic ectoderm of GATA6-deficient embryos, a finding also observed in HNF4-deficient embryos. Consistent with these data, forced expression of GATA6 activated the HNF4 promoter in nonendodermal cells. Finally, to examine the function of GATA6 during later embryonic development, <a href="#10" class="mim-tip-reference" title="Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S., Parmacek, M. S. <strong>GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.</strong> Genes Dev. 12: 3579-3590, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832509[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/10.1101/gad.12.22.3579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832509">Morrisey et al. (1998)</a> generated GATA6-deficient-_C57BL/6 chimeric mice. LacZ-tagged GATA6 -/- ES cells contributed to all embryonic tissues, with the exception of the endodermally derived bronchial epithelium. <a href="#10" class="mim-tip-reference" title="Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S., Parmacek, M. S. <strong>GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.</strong> Genes Dev. 12: 3579-3590, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832509[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/10.1101/gad.12.22.3579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832509">Morrisey et al. (1998)</a> suggested that their data supports a model in which GATA6 lies upstream of HNF4 in a transcriptional cascade that regulates differentiation of the visceral endoderm. They concluded that GATA6 is required for establishment of the endodermally derived bronchial epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E., Parmacek, M. S. <strong>GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.</strong> J. Clin. Invest. 116: 929-939, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16557299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16557299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16557299[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/10.1172/JCI27363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16557299">Lepore et al. (2006)</a> found that targeted inactivation of the mouse Gata6 gene in vascular smooth muscle cells or in neural crest resulted in perinatal mortality from a spectrum of cardiovascular defects, including interrupted aortic arch and persistent truncus arteriosus. The defects did not result from impaired smooth muscle cell differentiation but rather were associated with attenuated expression of semaphorin-3C (SEMA3C; <a href="/entry/602645">602645</a>). <a href="#7" class="mim-tip-reference" title="Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E., Parmacek, M. S. <strong>GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.</strong> J. Clin. Invest. 116: 929-939, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16557299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16557299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16557299[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/10.1172/JCI27363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16557299">Lepore et al. (2006)</a> concluded that the primary function of GATA6 during cardiovascular development is to regulate morphogenetic patterning of the cardiac outflow tract and aortic arch. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16557299" 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>Mice heterozygous for either a Gata4 or Gata6 null allele are normal; however, <a href="#13" class="mim-tip-reference" title="Xin, M., Davis, C. A., Molkentin, J. D., Lien, C.-L., Duncan, S. A., Richardson, J. A., Olson, E. N. <strong>A threshold of GATA4 and GATA6 expression is required for cardiovascular development.</strong> Proc. Nat. Acad. Sci. 103: 11189-11194, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16847256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16847256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16847256[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.0604604103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16847256">Xin et al. (2006)</a> found that compound heterozygosity of Gata4 and Gata6 null alleles resulted in embryonic lethality by day 13.5 accompanied by a spectrum of cardiovascular defects. They concluded that the cardiovascular system is exquisitely sensitive to levels of GATA4 and GATA6 and suggested that these GATA factors act cooperatively in cardiovascular development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16847256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601656[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1598737972 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1598737972;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=rs1598737972" 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=rs1598737972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Japanese female patient with persistent truncus arteriosus (PTA; see <a href="/entry/217095">217095</a>), <a href="#5" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> identified heterozygosity for a 2-bp deletion in exon 5 of the GATA6 gene (1456delGA), causing a frameshift predicted to disrupt the nuclear localization signal and result in a premature termination codon that truncates 100 amino acids at the C terminus. Transfection studies with immunostaining showed an abnormal nuclear localization pattern with the mutant compared to wildtype, and cotransfection luciferase assays demonstrated loss of transcription activation of GATA6-dependent cardiac promoters. In addition, the mutant protein showed dominant-negative interaction with wildtype GATA6. The deletion was also present in heterozygosity in the proband's sister and father, both of whom had pulmonary stenosis. The sister also had patent ductus arteriosus and atrial septal defect, and atrial septal defect was also present in the proband. The mutation was not found in the unaffected mother or in 182 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666519" 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 Japanese male patient with persistent truncus arteriosus (PTA; see <a href="/entry/217095">217095</a>), <a href="#5" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> identified heterozygosity for a de novo 1396A-C transversion in exon 4 of the GATA6 gene, resulting in an asn466-to-his (N466H) substitution in the zinc finger. Cotransfection luciferase assays demonstrated loss of transcription activation of GATA6-dependent cardiac promoters. The mutation was not found in 182 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906814 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906814;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/rs387906814?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=rs387906814" 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=rs387906814" 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=RCV000023129 OR RCV000650081 OR RCV001174441 OR RCV001588823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023129, RCV000650081, RCV001174441, RCV001588823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023129...</a>
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<p>In a Hispanic patient with tetralogy of Fallot (TOF; <a href="/entry/187500">187500</a>), <a href="#9" class="mim-tip-reference" title="Maitra, M., Koenig, S. N., Srivastava, D., Garg, V. <strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong> Pediat. Res. 68: 281-285, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20581743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20581743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20581743[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/10.1203/PDR.0b013e3181ed17e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20581743">Maitra et al. (2010)</a> identified heterozygosity for a 799C-G transversion in the GATA6 gene, resulting in a leu198-to-val (L198V) substitution at a highly conserved residue. The patient had a single malalignment ventricular septal defect with subvalvar/valvar pulmonary stenosis and a normal aortic arch. The mutation was also detected in the patient's unaffected mother, but was not found in 288 control individuals, including 96 of Hispanic ethnicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20581743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906815 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906815;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/rs387906815?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=rs387906815" 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=rs387906815" 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=RCV000023130 OR RCV001174440 OR RCV001537624" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023130, RCV001174440, RCV001537624" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023130...</a>
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<p>In a Hispanic patient with atrioventricular septal defect (AVSD5; <a href="/entry/614474">614474</a>), <a href="#9" class="mim-tip-reference" title="Maitra, M., Koenig, S. N., Srivastava, D., Garg, V. <strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong> Pediat. Res. 68: 281-285, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20581743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20581743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20581743[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/10.1203/PDR.0b013e3181ed17e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20581743">Maitra et al. (2010)</a> identified heterozygosity for a 740C-T transition in the GATA6 gene, resulting in an ala178-to-val (A178V) substitution at a highly conserved residue. No DNA was available from family members, but the mutation was not found in 288 control individuals, including 96 of Hispanic ethnicity. The patient had unbalanced AVSD, hypoplastic left ventricle, and 2 muscular ventricular septal defects with no additional evidence of heterotaxy syndrome (see <a href="/entry/306955">306955</a>). Transfection studies demonstrated gain of function, with a 2-fold increase in transactivation ability with the mutant compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20581743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906816 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906816;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/rs387906816?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=rs387906816" 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=rs387906816" 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=RCV000023131 OR RCV000023132 OR RCV000990075 OR RCV001847620 OR RCV005025078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023131, RCV000023132, RCV000990075, RCV001847620, RCV005025078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023131...</a>
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<p>In 3 sporadic Chinese patients with congenital heart defects, 2 with atrial septal defect (ASD9; <a href="/entry/614475">614475</a>) and 1 with tetralogy of Fallot (TOF; <a href="/entry/187500">187500</a>), <a href="#8" class="mim-tip-reference" title="Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H, Yan, B., Liu, Y., Yang, Y., Chen, Y.-H. <strong>A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.</strong> J. Hum. Genet. 55: 662-667, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631719</a>] [<a href="https://doi.org/10.1038/jhg.2010.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631719">Lin et al. (2010)</a> identified heterozygosity for a 551G-A transition in exon 2 of the GATA6 gene, resulting in a ser184-to-asn (S184N) substitution at a highly conserved residue in the transcriptional activation domain. Functional analysis in HEK293 cells, using a direct cardiac downstream target, ANF (<a href="/entry/108780">108780</a>), as a luciferase reporter, demonstrated significantly decreased transcriptional activity and loss of dosage sensitivity for the mutant compared to wildtype. Studies in H9c2 rat cardiomyoblast cells using RT-PCR also showed impaired transcriptional ability of S184N GATA6. One of the ASD patients was a 3-year-old girl with an ostium secundum ASD and mild pulmonary arterial hypertension, whereas the other was a 4-year-old boy with an ostium secundum ASD and mild tricuspid valve disease and pulmonary valve replacement. The third patient was a 7-month-old boy with an overriding aorta (50% override), pulmonary stenosis, ventricular septal defect, and right atrial and ventricular hypertrophy. None of the patients had any other abnormalities. The S184N mutation was detected in the unaffected fathers of the boy with TOF and the girl with ASD, and it was also detected in the clinically unaffected mother of the boy with ASD, who was found to have bicuspid aortic valve on echocardiography. The mutation was not found in 500 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20631719" 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 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906817 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906817;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=rs387906817" 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=rs387906817" 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=RCV000023133" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023133" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023133</a>
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<p>In a patient with pancreatic agenesis and congenital heart defects (HDCA; <a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a de novo 1354A-G transition in exon 4 of the GATA6 gene, resulting in a thr452-to-ala (T452A) substitution on the DNA binding surface. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had atrial septal defect, developmental delay, and colonic perforation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" 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="0007" class="mim-anchor"></a>
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<strong>.0007 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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GATA6, 8-BP DEL, NT1448
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776872;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=rs587776872" 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=rs587776872" 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=RCV000023134" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023134" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023134</a>
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<p>In a patient with pancreatic agenesis and congenital heart defects (<a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a de novo 8-bp deletion in exon 5 of the GATA6 gene, predicted to cause a frameshift and premature termination codon. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had multiple ventricular septal defects, atrial septal defect, mild hypoplasia of right ventricle and tricuspid valve, pulmonary stenosis, patent ductus arteriosus, and gallbladder agenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906818 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906818;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/rs387906818?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=rs387906818" 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=rs387906818" 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=RCV000023135 OR RCV000191918 OR RCV003236769 OR RCV004975265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023135, RCV000191918, RCV003236769, RCV004975265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023135...</a>
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<p>In 2 patients with pancreatic agenesis and congenital heart defects (<a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a de novo 1366C-T transition in exon 4 of the GATA6 gene, resulting in an arg456-to-cys (R456C) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (<a href="/entry/600281">600281</a>) proximal promoter. The mutation was not present in the probands' unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, 1 patient had truncus arteriosus, perimembranous ventricular septal defect, and developmental delay and seizures, whereas the other had tetralogy of Fallot, developmental delay, and umbilical hernia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" 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 3-year-old boy with tetralogy of Fallot, left diaphragmatic hernia, and a single umbilical artery, who had normal psychomotor development and no history of hyperglycemia, <a href="#16" class="mim-tip-reference" title="Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others. <strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong> J. Med. Genet. 51: 197-202, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24385578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24385578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24385578[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/10.1136/jmedgenet-2013-101989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24385578">Yu et al. (2014)</a> identified heterozygosity for the R456C mutation in the GATA6 gene. The mutation was not detected in the proband's unaffected parents or in 183 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24385578" 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>.0009 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906819;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=rs387906819" 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=rs387906819" 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=RCV000023136 OR RCV001781300" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023136, RCV001781300" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023136...</a>
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<p>In a patient with pancreatic agenesis and congenital heart defects (<a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a de novo 1367G-A transition in exon 4 of the GATA6 gene, resulting in an arg456-to-his (R456H) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (<a href="/entry/600281">600281</a>) proximal promoter. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had patent ductus arteriosus, ventricular septal defect, hypoplastic left pulmonary artery, and severe developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" 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">rs387906813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906813;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=rs387906813" 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=rs387906813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with pancreatic agenesis and congenital heart defects (<a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a 1396A-G transition in exon 4 of the GATA6 gene, resulting in an asn466-to-asp (N466D) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (<a href="/entry/600281">600281</a>) proximal promoter. DNA was not available from the proband's unaffected father, but the mutation was not found in the unaffected mother or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had patent ductus arteriosus, transient hypothyroidism, gallbladder agenesis, developmental delay, epilepsy, and intestinal malrotation and microcolon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906820 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906820;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=rs387906820" 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=rs387906820" 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=RCV000023138 OR RCV004767015" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023138, RCV004767015" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023138...</a>
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<p>In a patient with pancreatic agenesis and congenital heart defects (<a href="/entry/600001">600001</a>), <a href="#1" class="mim-tip-reference" title="Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S. <strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong> Nature Genet. 44: 20-22, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22158542">Allen et al. (2012)</a> identified heterozygosity for a 1399G-A transition in exon 4 of the GATA6 gene, resulting in an ala467-to-thr (A467T) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (<a href="/entry/600281">600281</a>) proximal promoter. DNA was not available from the proband's unaffected parents, but the mutation was not found in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had atrial septal defect and pulmonary stenosis, pituitary agenesis, and moderate learning difficulties and seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22158542" 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>.0012 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776936 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776936;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=rs587776936" 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=rs587776936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an affected female member of the Japanese family with pancreatic agenesis and congenital heart defects (HDCA; <a href="/entry/600001">600001</a>) originally reported by <a href="#15" class="mim-tip-reference" title="Yorifuji, T., Matsumura, M., Okuno, T., Shimizu, K., Sonomura, T., Muroi, J., Kuno, C., Takahashi, Y., Okuno, T. <strong>Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?</strong> J. Med. Genet. 31: 331-333, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071961</a>] [<a href="https://doi.org/10.1136/jmg.31.4.331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071961">Yorifuji et al. (1994)</a>, <a href="#14" class="mim-tip-reference" title="Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N. <strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong> J. Med. Genet. 49: 642-643, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962692</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962692">Yorifuji et al. (2012)</a> identified heterozygosity for a 2-bp deletion (1504delAA) in exon 4 of the GATA6 gene, predicted to affect the DNA-binding capacity of the mutant protein. <a href="#14" class="mim-tip-reference" title="Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N. <strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong> J. Med. Genet. 49: 642-643, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962692</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22962692">Yorifuji et al. (2012)</a> noted that affected members of this family had a variable degree of pancreatic hypoplasia and severity of diabetes ranging from neonatally lethal diabetes with only a remnant of pancreatic tissue to adult-onset diabetes associated with dorsal agenesis of the pancreas. Similar intrafamilial variability was observed with regard to the types of congenital heart defects present in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22962692+8071961" 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">rs587777710 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777710;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=rs587777710" 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=rs587777710" 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=RCV000144067 OR RCV000191916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144067, RCV000191916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144067...</a>
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<p>In a male infant with a large ventricular septal defect (VSD) and diaphragmatic hernia (HDCA; <a href="/entry/600001">600001</a>), <a href="#16" class="mim-tip-reference" title="Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others. <strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong> J. Med. Genet. 51: 197-202, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24385578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24385578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24385578[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/10.1136/jmedgenet-2013-101989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24385578">Yu et al. (2014)</a> identified heterozygosity for a c.712G-T transversion in the GATA6 gene, resulting in a gly238-to-ter (G238X) substitution that was not found in 183 controls. Sanger sequencing confirmed that the mutation occurred de novo in his affected mother, who had patent ductus arteriosus, congenital absence of the pericardium, and intestinal malrotation. Quantitative analysis of blood- and saliva-derived DNA from the mother revealed somatic mosaicism consistent with her significantly milder phenotype: only 16% of alleles from saliva and 15% from blood were mutant, suggesting that the mutation was postzygotic. The G238X mutation was also detected in an aborted female fetus from the mother's second pregnancy; autopsy revealed left diaphragmatic hernia, large VSD, bilateral cervical ribs, absent right twelfth rib, and left ureteral duplication. In addition, although pancreatic tissue was identified in the fetus, it was noted to be ectopically located, in association with the mesentery of the small bowel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24385578" 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>.0014 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555628863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555628863;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=rs1555628863" 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=rs1555628863" 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=RCV000144068 OR RCV000191917" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144068, RCV000191917" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144068...</a>
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<p>In a patient with atrial septal defect and diaphragmatic hernia (HDCA; <a href="/entry/600001">600001</a>), <a href="#16" class="mim-tip-reference" title="Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others. <strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong> J. Med. Genet. 51: 197-202, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24385578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24385578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24385578[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/10.1136/jmedgenet-2013-101989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24385578">Yu et al. (2014)</a> identified heterozygosity for a de novo 1-bp deletion (c.1071delG) in the GATA6 gene, causing a frameshift predicted to result in a premature termination codon (Val358Cysfs34Ter). The mutation was not present in the unaffected parents, in 183 controls, or in the 1000 Genomes Project or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24385578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Allen2012" class="mim-anchor"></a>
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Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S.
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<strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong>
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Nature Genet. 44: 20-22, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22158542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22158542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22158542[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=22158542" 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.1035" target="_blank">Full Text</a>]
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<a id="Ho2005" class="mim-anchor"></a>
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Ho, C. K. M., Wood, J. R., Stewart, D. R., Ewens, K., Ankener, W., Wickenheisser, J., Nelson-Degrave, V., Zhang, Z., Legro, R. S., Dunaif, A., McAllister, J. M., Spielman, R., Strauss, J. F., III.
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<strong>Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.</strong>
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J. Clin. Endocr. Metab. 90: 6596-6602, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16159937" 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/10.1210/jc.2005-0890" target="_blank">Full Text</a>]
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<a id="Kamnasaran2007" class="mim-anchor"></a>
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Kamnasaran, D., Qian, B., Hawkins, C., Stanford, W. L., Guha, A.
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<strong>GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model.</strong>
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Proc. Nat. Acad. Sci. 104: 8053-8058, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17463088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17463088</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17463088[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=17463088" 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.0611669104" target="_blank">Full Text</a>]
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<a id="Ketola2003" class="mim-anchor"></a>
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Ketola, I., Toppari, J., Vaskivuo, T., Herva, R., Tapanainen, J. S., Heikinheimo, M.
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<strong>Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.</strong>
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J. Clin. Endocr. Metab. 88: 1858-1865, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12679484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12679484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12679484" 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/10.1210/jc.2002-021647" target="_blank">Full Text</a>]
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<a id="Kodo2009" class="mim-anchor"></a>
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Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H.
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<strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong>
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Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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=19666519" 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.0904744106" target="_blank">Full Text</a>]
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<a id="Laitinen2000" class="mim-anchor"></a>
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Laitinen, M. P. E., Anttonen, M., Ketola, I., Wilson, D. B., Ritvos, O., Butzow, R., Heikinheimo, M.
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<strong>Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.</strong>
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J. Clin. Endocr. Metab. 85: 3476-3483, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10999851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10999851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10999851" 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/10.1210/jcem.85.9.6828" target="_blank">Full Text</a>]
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<a id="Lepore2006" class="mim-anchor"></a>
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Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E., Parmacek, M. S.
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<strong>GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.</strong>
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J. Clin. Invest. 116: 929-939, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16557299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16557299</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16557299[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=16557299" 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/10.1172/JCI27363" target="_blank">Full Text</a>]
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<a id="Lin2010" class="mim-anchor"></a>
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Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H, Yan, B., Liu, Y., Yang, Y., Chen, Y.-H.
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<strong>A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.</strong>
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J. Hum. Genet. 55: 662-667, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20631719" 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/jhg.2010.84" target="_blank">Full Text</a>]
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<a id="Maitra2010" class="mim-anchor"></a>
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Maitra, M., Koenig, S. N., Srivastava, D., Garg, V.
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<strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong>
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Pediat. Res. 68: 281-285, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20581743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20581743</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20581743[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=20581743" 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/10.1203/PDR.0b013e3181ed17e4" target="_blank">Full Text</a>]
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<a id="Morrisey1998" class="mim-anchor"></a>
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Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S., Parmacek, M. S.
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<strong>GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.</strong>
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Genes Dev. 12: 3579-3590, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832509[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=9832509" 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/10.1101/gad.12.22.3579" target="_blank">Full Text</a>]
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<a id="Rosas2014" class="mim-anchor"></a>
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Rosas, M., Davies, L. C., Giles, P. J., Liao, C.-T., Kharfan, B., Stone, T. C., O'Donnell, V. B., Fraser, D. J., Jones, S. A., Taylor, P. R.
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<strong>The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.</strong>
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Science 344: 645-648, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24762537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24762537</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24762537[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=24762537" 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/10.1126/science.1251414" target="_blank">Full Text</a>]
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<a id="Suzuki1996" class="mim-anchor"></a>
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Suzuki, E., Evans, T., Lowry, J., Truong, L., Bell, D. W., Testa, J. R., Walsh, K.
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<strong>The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975704" 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/geno.1996.0630" target="_blank">Full Text</a>]
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<a id="Xin2006" class="mim-anchor"></a>
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Xin, M., Davis, C. A., Molkentin, J. D., Lien, C.-L., Duncan, S. A., Richardson, J. A., Olson, E. N.
|
|
<strong>A threshold of GATA4 and GATA6 expression is required for cardiovascular development.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 11189-11194, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16847256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16847256</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16847256[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=16847256" 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.0604604103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Yorifuji2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N.
|
|
<strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong>
|
|
J. Med. Genet. 49: 642-643, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22962692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22962692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22962692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-101161" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Yorifuji1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yorifuji, T., Matsumura, M., Okuno, T., Shimizu, K., Sonomura, T., Muroi, J., Kuno, C., Takahashi, Y., Okuno, T.
|
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<strong>Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?</strong>
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|
J. Med. Genet. 31: 331-333, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.31.4.331" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Yu2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others.
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<strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong>
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J. Med. Genet. 51: 197-202, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24385578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24385578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24385578[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=24385578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2013-101989" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/17/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 5/30/2014<br>Marla J. F. O'Neill - updated : 12/10/2012<br>Marla J. F. O'Neill - updated : 2/13/2012<br>Marla J. F. O'Neill - updated : 2/9/2012<br>Patricia A. Hartz - updated : 7/6/2007<br>John A. Phillips, III - updated : 3/20/2007<br>Patricia A. Hartz - updated : 10/2/2006<br>Patricia A. Hartz - updated : 6/14/2006<br>John A. Phillips, III - updated : 6/29/2005<br>John A. Phillips, III - updated : 3/27/2001<br>Ada Hamosh - updated : 7/20/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/3/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/18/2023
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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">
|
|
carol : 09/17/2014<br>alopez : 5/30/2014<br>alopez : 12/10/2012<br>carol : 2/24/2012<br>carol : 2/17/2012<br>terry : 2/16/2012<br>carol : 2/15/2012<br>carol : 2/13/2012<br>terry : 2/13/2012<br>carol : 2/13/2012<br>terry : 2/9/2012<br>carol : 2/9/2012<br>mgross : 7/10/2007<br>mgross : 7/10/2007<br>terry : 7/6/2007<br>carol : 3/20/2007<br>wwang : 10/2/2006<br>mgross : 6/15/2006<br>terry : 6/14/2006<br>alopez : 6/29/2005<br>alopez : 3/27/2001<br>mcapotos : 8/1/2000<br>mcapotos : 7/28/2000<br>terry : 7/20/2000<br>terry : 12/3/1999<br>mark : 2/5/1997<br>jenny : 2/4/1997<br>mark : 2/3/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</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> 601656
|
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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>
|
|
<span class="mim-font">
|
|
|
|
GATA-BINDING PROTEIN 6; GATA6
|
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|
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: GATA6</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 61959006, 722206009, 787779000, 86299006;
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q20.0, Q21.3;
|
|
|
|
|
|
<strong>ICD9CM:</strong> 745.0, 745.2;
|
|
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</span>
|
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</p>
|
|
</div>
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<div>
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<br />
|
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 18q11.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 18:22,169,589-22,202,528 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
18q11.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial septal defect 9
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614475
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrioventricular septal defect 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614474
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pancreatic agenesis and congenital heart defects
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600001
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Tetralogy of Fallot
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
187500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>GATA factors constitute a family of transcriptional regulatory proteins expressed with distinct developmental and tissue-specific profiles and are thought to regulate cell-restricted programs of gene expression. Suzuki et al. (1996) described the molecular cloning, chromosomal location, and the transcription of the human GATA6 gene. The cDNA encodes a predicted 449-amino acid protein that is highly conserved among vertebrates and includes 2 adjacent zinc finger/basic domains characteristic of the GATA factor family. The gene is transcribed in a pattern overlapping that of GATA4 (600576). Transcripts for both of these genes are prominent in heart, pancreas, and ovary, but only GATA6 mRNA was found in lung and liver. GATA6 transcripts were also detected in cultures of human and rat vascular smooth muscle cells. In these cells, GATA6 transcripts were downregulated when quiescent cultures were stimulated to proliferate in response to mitogen activation. The results demonstrate that GATA6 is subject to both tissue-specific and mitogen-responsive regulatory signals. Suzuki et al. (1996) commented that GATA6 is a prime candidate for a gene that regulates the differentiative state of vascular smooth muscle cells. </p><p>Maitra et al. (2010) performed in situ hybridization in wildtype mouse embryos at embryonic day 13.5 and observed higher levels of expression of GATA6 in the atrial and ventricular myocardium than in the atrioventricular valve leaflets. The highest levels of GATA6 expression were seen in the smooth muscle cells of the aorta and pulmonary artery, whereas lower levels were detectable in pulmonary valve leaflets. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Suzuki et al. (1996) mapped the GATA6 gene to 18q11.1-q11.2. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Laitinen et al. (2000) examined the expression of GATA4 and GATA6 in human ovaries, human granulosa-luteal (GL) cells, and sex cord-derived tumors. They showed by in situ hybridization and immunohistochemistry that GATA4 and GATA6 mRNA and GATA4 protein are present in granulosa and theca cells in both preantral and antral follicles. Both human ovarian tissue samples and freshly isolated GL cells derived from preovulatory follicles of gonadotropin-treated women expressed GATA4, GATA6, and FOG2 (603693) transcripts, and GATA6 mRNA expression in GL cell cultures was stimulated by human CG (see 118860) and 8-bromo-cAMP. The vast majority of granulosa and theca cell tumors examined expressed GATA4 and GATA6. They also found that mRNA for FOG2, a regulator of GATA4, is coexpressed with GATA4 in human ovary samples, normal granulosa cells, and in sex cord-derived tumors. The authors concluded that their findings support a role for GATA-binding proteins in human ovarian folliculogenesis. Moreover, they suggested that GATA factors may contribute to the phenotypes of sex cord-derived ovarian tumors. </p><p>Ketola et al. (2003) studied GATA6 expression in human fetal testis using in situ hybridization and immunohistochemistry and compared these results with the expression of the apoptosis-related proteins BCL2 (151430) and BAX (600040). Apoptotic cells were scanty between weeks 16 and 40, and proliferation ceased during the third trimester, supporting the view that little tissue remodeling occurs in the late fetal testis. The authors concluded that despite strong expression, GATA6 did not correlate with apoptosis or cell proliferation and is therefore unlikely to be directly involved in these processes in the human fetal testis. </p><p>Ho et al. (2005) studied why GATA6 mRNA levels are increased in polycystic ovary syndrome (PCOS; 184700) theca cells. By quantitative RT-PCR analysis, they showed that nascent GATA6 transcript levels, which reflect GATA6 gene transcription, were significantly increased in PCOS theca cells. In normal theca cells, GATA6 mRNA had a short half-life, which was attributed to an AU-rich 3-prime untranslated region sequence; in PCOS theca cells, the half-life of GATA6 transcripts was significantly longer. Ho et al. (2005) identified no sequence variations in the GATA6 gene that were associated with PCOS. </p><p>Kamnasaran et al. (2007) identified Gata6 as a tumor suppressor by screening for genetic modifiers that accelerated transformation in a mouse malignant astrocytoma model. Loss of Gata6 resulted in enhanced proliferation and transformation of astrocytes. Human malignant astrocytoma cell lines, explant xenografts, and operative specimens demonstrated loss of GATA6 expression. Loss-of-function GATA6 mutations with loss of heterozygosity at the GATA6 locus were found in human malignant astrocytoma specimens, but not in lower grade astrocytomas or normal adult astrocytes. Knockdown of GATA6 expression led to accelerated tumorigenesis in p53 -/- mouse astrocytes and in human astrocytes expressing activated HRAS (190020). Conversely, elevated GATA6 expression in human malignant astrocytoma cells reduced their tumorigenic growth and decreased VEGF (192240) expression. </p><p>In a transgenic mouse system, Kodo et al. (2009) observed that mutation of conserved GATA consensus sites on enhancer elements of the downstream target genes Sema3c (602645) and Plxna2 (601054) abolished their activity in the cardiac outflow tract (OFT) and subpulmonary myocardium, and in cardiac neural crest derivatives in the OFT region, respectively. Kodo et al. (2009) concluded that there is direct regulation of SEMA3C and PLXNA2 expression through binding of GATA transcription factors, including GATA6. </p><p>Rosas et al. (2014) determined a transcriptional profile for the major self-renewing population of peritoneal macrophages in mice. These cells specifically expressed the transcription factor Gata6. Selective deficiency of Gata6 in myeloid cells caused substantial alterations in the transcriptome of peritoneal macrophages. Gata6 deficiency also resulted in dysregulated peritoneal macrophage proliferative renewal during homeostasis and in response to inflammation, which was associated with delays in the resolution of inflammation. Rosas et al. (2014) concluded that the tissue macrophage phenotype is under discrete tissue-selective transcriptional control and that this is fundamentally linked to the regulation of proliferation renewal. </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>Kodo et al. (2009) screened the genomes of 21 unrelated Japanese patients with nonsyndromic persistent truncus arteriosus (PTA; see 217095) and identified heterozygosity for a 2-bp deletion (601656.0001) and a missense mutation (601656.0002) in the GATA6 gene, respectively, in 2 probands. The deletion segregated with congenital heart disease in the family of the first proband, whereas the second proband's mutation was de novo. Neither was found in 182 Japanese controls. In vitro analysis demonstrated that the mutants were unable to activate the GATA6-dependent cardiac promoters NPPA (108780), WNT2 (147870), SEMA3C (602645), and PLXNA2 (601054), and there was reduced binding efficiency to the latter 2 promoters, suggesting that each of the GATA6 mutations disturbs semaphorin-plexin signaling to varying degrees, resulting in abnormal development of the cardiac outflow tract. </p><p>Maitra et al. (2010) sequenced all 7 exons of the GATA6 gene in 310 children with a spectrum of congenital heart defects, and identified heterozygosity for 2 different missense mutations at highly conserved residues (601656.0003 and 601656.0004, respectively) in 1 patient with isolated tetralogy of Fallot (TOF; 187500) and in 1 patient with atrioventricular septal defect (AVSD5; 614474). </p><p>Lin et al. (2010) analyzed the coding region and exon-intron boundaries of the GATA6 gene in 270 sporadic Chinese patients with congenital heart defects and identified a heterozygous missense mutation (S184N; 601656.0005) in 3 patients, 2 with atrial septal defect (ASD9; 614475) and 1 with tetralogy of Fallot. </p><p>Allen et al. (2012) performed exome sequencing in 2 unrelated patients with pancreatic agenesis and congenital heart defects (HDCA; 600001) and their unaffected parents and identified heterozygosity for a de novo mutation in the GATA6 gene (601656.0006 and 601656.0007) in each proband. Subsequent analysis of GATA6 in another 24 probands with pancreatic agenesis who were negative for mutation in the PTF1A (607194) and PDX1 (600733) genes revealed 12 mutations in 13 of the probands (see, e.g., 601656.0008-601656.0011). Allen et al. (2012) noted that 14 of the 15 mutation-positive patients had congenital heart defects in addition to pancreatic agenesis, and other malformations or abnormalities were common in these patients. </p><p>In an affected female member of a Japanese family with congenital heart defects and pancreatic agenesis who was negative for mutation in 8 other genes associated with pancreatic development and/or function, Yorifuji et al. (2012) analyzed the GATA6 gene and identified heterozygosity for a 2-bp deletion (601656.0012). The authors noted that unlike previously reported patients with pancreatic agenesis and congenital heart defects, in whom de novo mutations caused complete agenesis or pronounced hypoplasia of the pancreas, the dominantly inherited mutation in this family resulted in a variable degree of pancreatic hypoplasia, severity of diabetes, and types of congenital cardiac defects present among the affected members of this family. Yorifuji et al. (2012) concluded that this observation broadened the clinical spectrum of diabetes caused by GATA6 haploinsufficiency, and that intrafamilial variability in phenotypic expression is relevant to the genetic counseling of such families. </p><p>In 5 affected individuals from 3 unrelated families with congenital diaphragmatic hernia and cardiac defects, Yu et al. (2014) identified heterozygosity for mutations in the GATA6 gene (see 601656.0008 and 601656.0013-601656.0014). There was no evidence for hyperglycemia or pancreatic insufficiency in any of the patients. </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>Morrisey et al. (1998) generated mice deficient in GATA6 by targeted disruption. Differentiated embryoid bodies derived from GATA6 -/- embryonic stem (ES) cells lacked a covering layer of visceral endoderm and severely attenuated, or failed to express, genes encoding early and late endodermal markers, including HNF4 (600281), GATA4, alpha-fetoprotein (AFP; 104150), and HNF3-beta (600288). Homozygous GATA6 -/- mice died between embryonic days 6.5 and 7.5 and exhibited a specific defect in endoderm differentiation, including severely downregulated expression of GATA4 and the absence of HNF4 gene expression. Moreover, widespread programmed cell death was observed within the embryonic ectoderm of GATA6-deficient embryos, a finding also observed in HNF4-deficient embryos. Consistent with these data, forced expression of GATA6 activated the HNF4 promoter in nonendodermal cells. Finally, to examine the function of GATA6 during later embryonic development, Morrisey et al. (1998) generated GATA6-deficient-_C57BL/6 chimeric mice. LacZ-tagged GATA6 -/- ES cells contributed to all embryonic tissues, with the exception of the endodermally derived bronchial epithelium. Morrisey et al. (1998) suggested that their data supports a model in which GATA6 lies upstream of HNF4 in a transcriptional cascade that regulates differentiation of the visceral endoderm. They concluded that GATA6 is required for establishment of the endodermally derived bronchial epithelium. </p><p>Lepore et al. (2006) found that targeted inactivation of the mouse Gata6 gene in vascular smooth muscle cells or in neural crest resulted in perinatal mortality from a spectrum of cardiovascular defects, including interrupted aortic arch and persistent truncus arteriosus. The defects did not result from impaired smooth muscle cell differentiation but rather were associated with attenuated expression of semaphorin-3C (SEMA3C; 602645). Lepore et al. (2006) concluded that the primary function of GATA6 during cardiovascular development is to regulate morphogenetic patterning of the cardiac outflow tract and aortic arch. </p><p>Mice heterozygous for either a Gata4 or Gata6 null allele are normal; however, Xin et al. (2006) found that compound heterozygosity of Gata4 and Gata6 null alleles resulted in embryonic lethality by day 13.5 accompanied by a spectrum of cardiovascular defects. They concluded that the cardiovascular system is exquisitely sensitive to levels of GATA4 and GATA6 and suggested that these GATA factors act cooperatively in cardiovascular development. </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>14 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 PERSISTENT TRUNCUS ARTERIOSUS</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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GATA6, 2-BP DEL, 1456GA
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<br />
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SNP: rs1598737972,
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ClinVar: RCV000023127, RCV001852013
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese female patient with persistent truncus arteriosus (PTA; see 217095), Kodo et al. (2009) identified heterozygosity for a 2-bp deletion in exon 5 of the GATA6 gene (1456delGA), causing a frameshift predicted to disrupt the nuclear localization signal and result in a premature termination codon that truncates 100 amino acids at the C terminus. Transfection studies with immunostaining showed an abnormal nuclear localization pattern with the mutant compared to wildtype, and cotransfection luciferase assays demonstrated loss of transcription activation of GATA6-dependent cardiac promoters. In addition, the mutant protein showed dominant-negative interaction with wildtype GATA6. The deletion was also present in heterozygosity in the proband's sister and father, both of whom had pulmonary stenosis. The sister also had patent ductus arteriosus and atrial septal defect, and atrial septal defect was also present in the proband. The mutation was not found in the unaffected mother or in 182 Japanese controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PERSISTENT TRUNCUS ARTERIOSUS</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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GATA6, ASN466HIS
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<br />
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SNP: rs387906813,
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ClinVar: RCV000023128
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese male patient with persistent truncus arteriosus (PTA; see 217095), Kodo et al. (2009) identified heterozygosity for a de novo 1396A-C transversion in exon 4 of the GATA6 gene, resulting in an asn466-to-his (N466H) substitution in the zinc finger. Cotransfection luciferase assays demonstrated loss of transcription activation of GATA6-dependent cardiac promoters. The mutation was not found in 182 Japanese controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 TETRALOGY OF FALLOT</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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GATA6, LEU198VAL
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<br />
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SNP: rs387906814,
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gnomAD: rs387906814,
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ClinVar: RCV000023129, RCV000650081, RCV001174441, RCV001588823
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Hispanic patient with tetralogy of Fallot (TOF; 187500), Maitra et al. (2010) identified heterozygosity for a 799C-G transversion in the GATA6 gene, resulting in a leu198-to-val (L198V) substitution at a highly conserved residue. The patient had a single malalignment ventricular septal defect with subvalvar/valvar pulmonary stenosis and a normal aortic arch. The mutation was also detected in the patient's unaffected mother, but was not found in 288 control individuals, including 96 of Hispanic ethnicity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ATRIOVENTRICULAR SEPTAL DEFECT 5</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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GATA6, ALA178VAL
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<br />
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SNP: rs387906815,
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gnomAD: rs387906815,
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ClinVar: RCV000023130, RCV001174440, RCV001537624
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Hispanic patient with atrioventricular septal defect (AVSD5; 614474), Maitra et al. (2010) identified heterozygosity for a 740C-T transition in the GATA6 gene, resulting in an ala178-to-val (A178V) substitution at a highly conserved residue. No DNA was available from family members, but the mutation was not found in 288 control individuals, including 96 of Hispanic ethnicity. The patient had unbalanced AVSD, hypoplastic left ventricle, and 2 muscular ventricular septal defects with no additional evidence of heterotaxy syndrome (see 306955). Transfection studies demonstrated gain of function, with a 2-fold increase in transactivation ability with the mutant compared to wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 ATRIAL SEPTAL DEFECT 9</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">
|
|
TETRALOGY OF FALLOT, INCLUDED
|
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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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GATA6, SER184ASN
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<br />
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SNP: rs387906816,
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gnomAD: rs387906816,
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ClinVar: RCV000023131, RCV000023132, RCV000990075, RCV001847620, RCV005025078
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 sporadic Chinese patients with congenital heart defects, 2 with atrial septal defect (ASD9; 614475) and 1 with tetralogy of Fallot (TOF; 187500), Lin et al. (2010) identified heterozygosity for a 551G-A transition in exon 2 of the GATA6 gene, resulting in a ser184-to-asn (S184N) substitution at a highly conserved residue in the transcriptional activation domain. Functional analysis in HEK293 cells, using a direct cardiac downstream target, ANF (108780), as a luciferase reporter, demonstrated significantly decreased transcriptional activity and loss of dosage sensitivity for the mutant compared to wildtype. Studies in H9c2 rat cardiomyoblast cells using RT-PCR also showed impaired transcriptional ability of S184N GATA6. One of the ASD patients was a 3-year-old girl with an ostium secundum ASD and mild pulmonary arterial hypertension, whereas the other was a 4-year-old boy with an ostium secundum ASD and mild tricuspid valve disease and pulmonary valve replacement. The third patient was a 7-month-old boy with an overriding aorta (50% override), pulmonary stenosis, ventricular septal defect, and right atrial and ventricular hypertrophy. None of the patients had any other abnormalities. The S184N mutation was detected in the unaffected fathers of the boy with TOF and the girl with ASD, and it was also detected in the clinically unaffected mother of the boy with ASD, who was found to have bicuspid aortic valve on echocardiography. The mutation was not found in 500 ethnically matched controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</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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GATA6, THR452ALA
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<br />
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SNP: rs387906817,
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ClinVar: RCV000023133
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with pancreatic agenesis and congenital heart defects (HDCA; 600001), Allen et al. (2012) identified heterozygosity for a de novo 1354A-G transition in exon 4 of the GATA6 gene, resulting in a thr452-to-ala (T452A) substitution on the DNA binding surface. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had atrial septal defect, developmental delay, and colonic perforation. </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>.0007 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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GATA6, 8-BP DEL, NT1448
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<br />
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SNP: rs587776872,
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ClinVar: RCV000023134
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with pancreatic agenesis and congenital heart defects (600001), Allen et al. (2012) identified heterozygosity for a de novo 8-bp deletion in exon 5 of the GATA6 gene, predicted to cause a frameshift and premature termination codon. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had multiple ventricular septal defects, atrial septal defect, mild hypoplasia of right ventricle and tricuspid valve, pulmonary stenosis, patent ductus arteriosus, and gallbladder agenesis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</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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GATA6, ARG456CYS
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<br />
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SNP: rs387906818,
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gnomAD: rs387906818,
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ClinVar: RCV000023135, RCV000191918, RCV003236769, RCV004975265
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 patients with pancreatic agenesis and congenital heart defects (600001), Allen et al. (2012) identified heterozygosity for a de novo 1366C-T transition in exon 4 of the GATA6 gene, resulting in an arg456-to-cys (R456C) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (600281) proximal promoter. The mutation was not present in the probands' unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, 1 patient had truncus arteriosus, perimembranous ventricular septal defect, and developmental delay and seizures, whereas the other had tetralogy of Fallot, developmental delay, and umbilical hernia. </p><p>In a 3-year-old boy with tetralogy of Fallot, left diaphragmatic hernia, and a single umbilical artery, who had normal psychomotor development and no history of hyperglycemia, Yu et al. (2014) identified heterozygosity for the R456C mutation in the GATA6 gene. The mutation was not detected in the proband's unaffected parents or in 183 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0009 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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GATA6, ARG456HIS
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<br />
|
|
|
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SNP: rs387906819,
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|
|
|
|
|
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ClinVar: RCV000023136, RCV001781300
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with pancreatic agenesis and congenital heart defects (600001), Allen et al. (2012) identified heterozygosity for a de novo 1367G-A transition in exon 4 of the GATA6 gene, resulting in an arg456-to-his (R456H) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (600281) proximal promoter. The mutation was not present in the proband's unaffected parents or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had patent ductus arteriosus, ventricular septal defect, hypoplastic left pulmonary artery, and severe developmental delay. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0010 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</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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GATA6, ASN466ASP
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<br />
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SNP: rs387906813,
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ClinVar: RCV000023137
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with pancreatic agenesis and congenital heart defects (600001), Allen et al. (2012) identified heterozygosity for a 1396A-G transition in exon 4 of the GATA6 gene, resulting in an asn466-to-asp (N466D) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (600281) proximal promoter. DNA was not available from the proband's unaffected father, but the mutation was not found in the unaffected mother or in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had patent ductus arteriosus, transient hypothyroidism, gallbladder agenesis, developmental delay, epilepsy, and intestinal malrotation and microcolon. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0011 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</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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GATA6, ALA467THR
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<br />
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SNP: rs387906820,
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ClinVar: RCV000023138, RCV004767015
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with pancreatic agenesis and congenital heart defects (600001), Allen et al. (2012) identified heterozygosity for a 1399G-A transition in exon 4 of the GATA6 gene, resulting in an ala467-to-thr (A467T) substitution on the DNA binding surface. Electrophoretic mobility shift assay showed that the mutation abolishes binding to a predicted GATA6 binding sequence in the pancreatic HNF4A (600281) proximal promoter. DNA was not available from the proband's unaffected parents, but the mutation was not found in 1,094 population controls from the 1000 Genomes Project database. In addition to pancreatic agenesis, the patient had atrial septal defect and pulmonary stenosis, pituitary agenesis, and moderate learning difficulties and seizures. </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>.0012 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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GATA6, 2-BP DEL, 1504AA
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<br />
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SNP: rs587776936,
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ClinVar: RCV000033071
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an affected female member of the Japanese family with pancreatic agenesis and congenital heart defects (HDCA; 600001) originally reported by Yorifuji et al. (1994), Yorifuji et al. (2012) identified heterozygosity for a 2-bp deletion (1504delAA) in exon 4 of the GATA6 gene, predicted to affect the DNA-binding capacity of the mutant protein. Yorifuji et al. (2012) noted that affected members of this family had a variable degree of pancreatic hypoplasia and severity of diabetes ranging from neonatally lethal diabetes with only a remnant of pancreatic tissue to adult-onset diabetes associated with dorsal agenesis of the pancreas. Similar intrafamilial variability was observed with regard to the types of congenital heart defects present in affected individuals. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
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<span class="mim-text-font">
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GATA6, GLY238TER
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<br />
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SNP: rs587777710,
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|
|
ClinVar: RCV000144067, RCV000191916
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with a large ventricular septal defect (VSD) and diaphragmatic hernia (HDCA; 600001), Yu et al. (2014) identified heterozygosity for a c.712G-T transversion in the GATA6 gene, resulting in a gly238-to-ter (G238X) substitution that was not found in 183 controls. Sanger sequencing confirmed that the mutation occurred de novo in his affected mother, who had patent ductus arteriosus, congenital absence of the pericardium, and intestinal malrotation. Quantitative analysis of blood- and saliva-derived DNA from the mother revealed somatic mosaicism consistent with her significantly milder phenotype: only 16% of alleles from saliva and 15% from blood were mutant, suggesting that the mutation was postzygotic. The G238X mutation was also detected in an aborted female fetus from the mother's second pregnancy; autopsy revealed left diaphragmatic hernia, large VSD, bilateral cervical ribs, absent right twelfth rib, and left ureteral duplication. In addition, although pancreatic tissue was identified in the fetus, it was noted to be ectopically located, in association with the mesentery of the small bowel. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GATA6, 1-BP DEL, 1071G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555628863,
|
|
|
|
|
|
|
|
ClinVar: RCV000144068, RCV000191917
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with atrial septal defect and diaphragmatic hernia (HDCA; 600001), Yu et al. (2014) identified heterozygosity for a de novo 1-bp deletion (c.1071delG) in the GATA6 gene, causing a frameshift predicted to result in a premature termination codon (Val358Cysfs34Ter). The mutation was not present in the unaffected parents, in 183 controls, or in the 1000 Genomes Project or Exome Variant Server databases. </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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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
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<div>
|
|
<ol>
|
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<li>
|
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<p class="mim-text-font">
|
|
Allen, H. L., Flanagan, S. E., Shaw-Smith, C., De Franco, E., Akerman, I., Caswell, R., International Pancreatic Agenesis Consortium, Ferrer, J., Hattersley, A. T., Ellard, S.
|
|
<strong>GATA6 haploinsufficiency causes pancreatic agenesis in humans.</strong>
|
|
Nature Genet. 44: 20-22, 2012.
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[PubMed: 22158542]
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[Full Text: https://doi.org/10.1038/ng.1035]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ho, C. K. M., Wood, J. R., Stewart, D. R., Ewens, K., Ankener, W., Wickenheisser, J., Nelson-Degrave, V., Zhang, Z., Legro, R. S., Dunaif, A., McAllister, J. M., Spielman, R., Strauss, J. F., III.
|
|
<strong>Increased transcription and increased messenger ribonucleic acid (mRNA) stability contribute to increased GATA6 mRNA abundance in polycystic ovary syndrome theca cells.</strong>
|
|
J. Clin. Endocr. Metab. 90: 6596-6602, 2005.
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[PubMed: 16159937]
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[Full Text: https://doi.org/10.1210/jc.2005-0890]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kamnasaran, D., Qian, B., Hawkins, C., Stanford, W. L., Guha, A.
|
|
<strong>GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 8053-8058, 2007.
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[PubMed: 17463088]
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[Full Text: https://doi.org/10.1073/pnas.0611669104]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ketola, I., Toppari, J., Vaskivuo, T., Herva, R., Tapanainen, J. S., Heikinheimo, M.
|
|
<strong>Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.</strong>
|
|
J. Clin. Endocr. Metab. 88: 1858-1865, 2003.
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[PubMed: 12679484]
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[Full Text: https://doi.org/10.1210/jc.2002-021647]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H.
|
|
<strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.
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[PubMed: 19666519]
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[Full Text: https://doi.org/10.1073/pnas.0904744106]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Laitinen, M. P. E., Anttonen, M., Ketola, I., Wilson, D. B., Ritvos, O., Butzow, R., Heikinheimo, M.
|
|
<strong>Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.</strong>
|
|
J. Clin. Endocr. Metab. 85: 3476-3483, 2000.
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[PubMed: 10999851]
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[Full Text: https://doi.org/10.1210/jcem.85.9.6828]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E., Parmacek, M. S.
|
|
<strong>GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.</strong>
|
|
J. Clin. Invest. 116: 929-939, 2006.
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|
|
[PubMed: 16557299]
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[Full Text: https://doi.org/10.1172/JCI27363]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H, Yan, B., Liu, Y., Yang, Y., Chen, Y.-H.
|
|
<strong>A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.</strong>
|
|
J. Hum. Genet. 55: 662-667, 2010.
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|
|
[PubMed: 20631719]
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|
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[Full Text: https://doi.org/10.1038/jhg.2010.84]
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</p>
|
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Maitra, M., Koenig, S. N., Srivastava, D., Garg, V.
|
|
<strong>Identification of GATA6 sequence variants in patients with congenital heart defects.</strong>
|
|
Pediat. Res. 68: 281-285, 2010.
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|
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[PubMed: 20581743]
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|
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[Full Text: https://doi.org/10.1203/PDR.0b013e3181ed17e4]
|
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S., Parmacek, M. S.
|
|
<strong>GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo.</strong>
|
|
Genes Dev. 12: 3579-3590, 1998.
|
|
|
|
|
|
[PubMed: 9832509]
|
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|
|
[Full Text: https://doi.org/10.1101/gad.12.22.3579]
|
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|
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Rosas, M., Davies, L. C., Giles, P. J., Liao, C.-T., Kharfan, B., Stone, T. C., O'Donnell, V. B., Fraser, D. J., Jones, S. A., Taylor, P. R.
|
|
<strong>The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.</strong>
|
|
Science 344: 645-648, 2014.
|
|
|
|
|
|
[PubMed: 24762537]
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|
|
[Full Text: https://doi.org/10.1126/science.1251414]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, E., Evans, T., Lowry, J., Truong, L., Bell, D. W., Testa, J. R., Walsh, K.
|
|
<strong>The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals.</strong>
|
|
Genomics 38: 283-290, 1996.
|
|
|
|
|
|
[PubMed: 8975704]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1996.0630]
|
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|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Xin, M., Davis, C. A., Molkentin, J. D., Lien, C.-L., Duncan, S. A., Richardson, J. A., Olson, E. N.
|
|
<strong>A threshold of GATA4 and GATA6 expression is required for cardiovascular development.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 11189-11194, 2006.
|
|
|
|
|
|
[PubMed: 16847256]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0604604103]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Yorifuji, T., Kawakita, R., Hosokawa, Y., Fujimaru, R., Yamaguchi, E., Tamagawa, N.
|
|
<strong>Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.</strong>
|
|
J. Med. Genet. 49: 642-643, 2012.
|
|
|
|
|
|
[PubMed: 22962692]
|
|
|
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|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2012-101161]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Yorifuji, T., Matsumura, M., Okuno, T., Shimizu, K., Sonomura, T., Muroi, J., Kuno, C., Takahashi, Y., Okuno, T.
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<strong>Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?</strong>
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J. Med. Genet. 31: 331-333, 1994.
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[PubMed: 8071961]
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[Full Text: https://doi.org/10.1136/jmg.31.4.331]
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Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., and 9 others.
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<strong>Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.</strong>
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J. Med. Genet. 51: 197-202, 2014.
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[PubMed: 24385578]
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[Full Text: https://doi.org/10.1136/jmedgenet-2013-101989]
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Marla J. F. O'Neill - updated : 09/17/2014<br>Ada Hamosh - updated : 5/30/2014<br>Marla J. F. O'Neill - updated : 12/10/2012<br>Marla J. F. O'Neill - updated : 2/13/2012<br>Marla J. F. O'Neill - updated : 2/9/2012<br>Patricia A. Hartz - updated : 7/6/2007<br>John A. Phillips, III - updated : 3/20/2007<br>Patricia A. Hartz - updated : 10/2/2006<br>Patricia A. Hartz - updated : 6/14/2006<br>John A. Phillips, III - updated : 6/29/2005<br>John A. Phillips, III - updated : 3/27/2001<br>Ada Hamosh - updated : 7/20/2000
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Victor A. McKusick : 2/3/1997
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