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Entry
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- *164005 - NUCLEAR FACTOR I/X; NFIX
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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">*164005</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/164005">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>
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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=ENSG00000008441;t=ENST00000592199" 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=4784" 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=164005" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000008441;t=ENST00000592199" 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_001271043,NM_001271044,NM_001365902,NM_001365982,NM_001365983,NM_001365984,NM_001365985,NM_001378404,NM_001378405,NM_002501,XM_005259917,XM_047438863,XM_047438864,XM_047438865" 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_001365902" 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=164005" 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=01234&isoform_id=01234_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/NFIX" 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/469041,499621,619726,619728,619730,3108019,5042399,5042400,14195678,31873767,54696330,56549649,111599724,111599728,119604744,119604745,119604746,119604747,119604748,194379844,194386346,258589175,402534520,402534522,1476587919,1477471257,1477471317,1477471319,1477471331,1808048386,1808496824,2217321375,2217321377,2217321379,2217321381,2462565523,2462565525,2462565527,2462565529" 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/Q14938" 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=4784" 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=ENSG00000008441;t=ENST00000592199" 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=NFIX" 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=NFIX" 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+4784" 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/NFIX" 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:4784" 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/4784" 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=chr19&hgg_gene=ENST00000592199.6&hgg_start=12995475&hgg_end=13098796&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7788" 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:7788" 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=164005[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=164005[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/NFIX/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/ENSG00000008441" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=NFIX" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=NFIX" 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=NFIX" 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=NFIX&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/PA31594" 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:7788" 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/FBgn0042696.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:97311" 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/NFIX#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:97311" 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/4784/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4784" 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=WBGene00003592;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-060421-5000" 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">
|
|
<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=NFIX&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> 73284007, 763795006<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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
164005
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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NUCLEAR FACTOR I/X; NFIX
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NUCLEAR FACTOR I, X-TYPE<br />
|
|
CCAAT-BINDING TRANSCRIPTION FACTOR<br />
|
|
NF1A
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NFIX" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NFIX</a></em></strong>
|
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</span>
|
|
</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/19/349?start=-3&limit=10&highlight=349">19p13.13</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:12995475-13098796&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'})">19:12,995,475-13,098,796</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614753,602535" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/349?start=-3&limit=10&highlight=349">
|
|
19p13.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Malan syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614753"> 614753 </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>
|
|
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|
|
|
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|
|
|
</tr>
|
|
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|
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|
|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Marshall-Smith syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/602535"> 602535 </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>
|
|
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<p>NFIX belongs to a family of CCAAT-binding transcription factors that can initiate transcription of both vertebrate and viral genes (<a href="#12" class="mim-tip-reference" title="Santoro, C., Mermod, N., Andrews, P. C., Tjian, R. <strong>A family of human CCAAT-box-binding proteins active in transcription and DNA replication: cloning and expression of multiple cDNAs.</strong> Nature 334: 218-224, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3398920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3398920</a>] [<a href="https://doi.org/10.1038/334218a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3398920">Santoro et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3398920" 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>Nuclear factor I is a ubiquitous 47-kD dimeric DNA-binding protein whose recognition sequence, TGG(C/A)N(5)GCCAA, is found in the genomes of a number of DNA viruses. The same sequence occurs frequently in the human genome. The NFI protein stimulates initiation of adenovirus DNA replication in vitro and is capable of stimulating the transcription of genes in cooperation with other factors, such as the estrogen receptor (ESR; <a href="/entry/133430">133430</a>). <a href="#12" class="mim-tip-reference" title="Santoro, C., Mermod, N., Andrews, P. C., Tjian, R. <strong>A family of human CCAAT-box-binding proteins active in transcription and DNA replication: cloning and expression of multiple cDNAs.</strong> Nature 334: 218-224, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3398920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3398920</a>] [<a href="https://doi.org/10.1038/334218a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3398920">Santoro et al. (1988)</a> gave a detailed analysis of NFI cDNAs isolated from the human, which, with similar analyses in other species, indicated that it is a member of a family of related proteins. Four known variants were referred to as CTF, X, L, and Red. These are the products of different genes, some of which (e.g., the first, CTF, later symbolized NFIC; <a href="/entry/600729">600729</a>) are subject to differential splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3398920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Seisenberger, C., Winnacker, E.-L., Scherthan, H. <strong>Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH.</strong> Hum. Genet. 91: 535-537, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8340106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8340106</a>] [<a href="https://doi.org/10.1007/BF00205076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8340106">Seisenberger et al. (1993)</a> isolated 2 phages containing the second exon and flanking intron regions of the human gene for NFI/X, which has been designated NFIX. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8340106" 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="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al. (1995)</a> isolated partial cDNA sequences from 4 nuclear factor I proteins: NFIA (<a href="/entry/600727">600727</a>), NFIB (<a href="/entry/600728">600728</a>), NFIC, and NFIX. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" 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="#5" class="mim-tip-reference" title="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> identified 5 human NFIX splice variants have coding regions of 1,324, 1,300, 1,270, 469, and 433 nucleotides. The 2 longest protein isoforms have 4 conserved cysteines in an N-terminal DNA-binding domain, followed by a nuclear localization signal. Other NFIX isoforms lack the nuclear localization signal or part or all of the DNA-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> performed RT-PCR analysis and demonstrated ubiquitous expression of NFIX in all human tissues and cell types tested, including chondrocytes and osteoblasts. In situ hybridization in normal human embryos at CS17 (gestational day 42) showed a nearly ubiquitous expression of NFIX, with prominent expression in the central nervous system and the peripheral nervous system. In fetal brain at 22 weeks' gestation, NFIX was expressed in the cerebral cortex, in the hippocampus, and faintly in the thalamus. In the skeleton, NFIX expression was first noticed at CS17 in the mandibular arch, the cartilage primordium of the humerus, the scapula, and the vertebrae. In the limb, NFIX expression was first observed at CS17 in the perichondrium. At 14 weeks' gestation, NFIX was highly expressed in the proliferating zone of the digit. The study of distal femoral growth plates of 1- to 5-week-old mice and human fetus revealed strong NFIX expression in bone and in prehypertrophic chondrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> determined that the NFIX gene contains 11 exons. By ortholog comparisons using protein sequences from 7 vertebrate species, they identified 9 NFIX variants that are produced by alternative splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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="#15" class="mim-tip-reference" title="Seisenberger, C., Winnacker, E.-L., Scherthan, H. <strong>Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH.</strong> Hum. Genet. 91: 535-537, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8340106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8340106</a>] [<a href="https://doi.org/10.1007/BF00205076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8340106">Seisenberger et al. (1993)</a> mapped the NFIX gene to 19p13. Secondary sites of hybridization were observed at 5p15, 1q42-q44, 1p22-p21, and 20p1.3; this hybridization was attributed to partial sequence homologies with related NFI genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8340106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By FISH, <a href="#11" class="mim-tip-reference" title="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al. (1995)</a> mapped the NFIA and NFIB genes to chromosomes 1p31.3-p31.2 and 9p24.1, respectively. The NFIC and NFIX genes were both localized to 19p13.3 in the order cen--NFIX--NFIC--tel. Comparison of the position of NFI genes and JUN genes revealed a close physical linkage between members of the NFI and JUN gene families; for example, one JUN gene (<a href="/entry/165160">165160</a>) is on 1p32-p31, and both JUNB (<a href="/entry/165161">165161</a>) and JUND (<a href="/entry/165162">165162</a>) are located on 19p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590749" 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="#14" class="mim-tip-reference" title="Scherthan, H., Seisenberger, C., Greulich, K., Winnacker, E.-L. <strong>Mapping of the murine nuclear factor I/X gene (Nfix) to mouse chromosome 8 C1-2 by FISH.</strong> Genomics 22: 247-249, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959784</a>]" pmid="7959784">Scherthan et al. (1994)</a> used fluorescence in situ hybridization to map the murine Nfix gene to chromosome 8C1-C2, confirming the segmental homology between human chromosome 19p13 and mouse chromosome 8C. Although the location of the other NFI genes in the mouse had not been established, <a href="#11" class="mim-tip-reference" title="Qian, F., Kruse, U., Lichter, P., Sippel, A. E. <strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong> Genomics 28: 66-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590749</a>] [<a href="https://doi.org/10.1006/geno.1995.1107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590749">Qian et al. (1995)</a> suggested that from the imperative map between human and mouse, the Nfia could be predicted to be located on mouse chromosome 4 where the murine c-jun is located and the Nfic locus on mouse chromosome 8 where the murine junD and junB genes are located. They speculated further that a genomic unit containing an ancestral NFI gene and an ancestral JUN gene existed early in evolution, later duplicated twice, and then underwent further changes. If this hypothesis is correct, one can suspect the existence of a fourth member of the JUN gene family, probably located close to the NFIB gene. The postulated fourth JUN gene would then be predicted to map to human 9 at 9p24.1 and murine chromosome 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7590749+7959784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By FISH, <a href="#5" class="mim-tip-reference" title="Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E. <strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong> Gene 304: 171-181, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12568726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12568726</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01204-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12568726">Grunder et al. (2003)</a> mapped the mouse Nfix gene to the distal region of chromosome 8C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12568726" 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 href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> used a high-resolution array CGH in 18 patients with unexplained syndromic overgrowth and identified 2 patients with a de novo 19p13.1 monosomy. The deletions involved a single common gene, NFIX. <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> then screened 76 patients with unexplained syndromic overgrowth for NIFX mutations and identified a heterozygous nonsense mutation (Q190X; <a href="#0001">164005.0001</a>) in 1 patient with Malan syndrome (MALNS; <a href="/entry/614753">614753</a>), who had been diagnosed with a 'Sotos-like syndrome' (see SOTOS, <a href="/entry/117550">117550</a>). This patient and the 2 patients with 19p13.1 monosomy had a similar phenotype consisting of postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis, unusual behavior characterized especially by anxiety, and mental retardation. The variant was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Ogata, K., Naritomi, K., Matsumoto, N. <strong>Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.</strong> J. Hum. Genet. 57: 207-211, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22301465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22301465</a>] [<a href="https://doi.org/10.1038/jhg.2012.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22301465">Yoneda et al. (2012)</a> examined NFIX by high-resolution melt analysis in 48 individuals who were suspected of having Sotos syndrome but who did not have NSD1 (<a href="/entry/606681">606681</a>) abnormalities, which are found in Sotos syndrome. They identified 2 heterozygous missense mutations in the DNA-binding/dimerization domain of the NFIX protein (<a href="#0011">164005.0011</a>-<a href="#0012">164005.0012</a>). Neither mutation was found in 250 healthy Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22301465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Marshall-Smith Syndrome</em></strong></p><p>
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Based on an Nfix-deficient mouse model with a phenotype similar to that in Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> screened 9 individuals with MRSHSS for NFIX mutations and found heterozygosity for 7 independent frameshift mutations (<a href="#0002">164005.0002</a>-<a href="#0008">164005.0008</a>) and 2 different mutations within the donor splice site of exon 6 (<a href="#0009">164005.0009</a>-<a href="#0010">164005.0010</a>). All of the mutations occurred de novo and were not found in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M. <strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong> Hum. Mutat. 35: 1092-1100, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24924640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24924640</a>] [<a href="https://doi.org/10.1002/humu.22603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24924640">Schanze et al. (2014)</a> analyzed the NFIX gene in 17 patients with a clinical diagnosis of MRSHSS and identified heterozygous mutations in all, confirming that MRSHSS is a genetically homogeneous mendelian disorder. Frameshift or splicing mutations were present in 10 patients (see, e.g., <a href="#0013">164005.0013</a>), 5 patients carried almost-identical deletions of exons 6 and 7 (see, e.g., <a href="#0014">164005.0014</a>), and 2 patients had smaller deletions involving exon 6 (see, e.g., <a href="#0015">164005.0015</a>). The authors noted that predicted MRSHSS-associated mutant NFIX proteins all have a preserved DNA binding and dimerization domain, whereas they vary widely in their C-terminal portion, supporting the hypothesis that MRSHSS-associated mutations encode dysfunctional proteins that act in a dominant-negative manner. The patients exhibited a consistent phenotype, with no obvious correlation between phenotype and specific alterations of the C-terminal portion of the NFIX protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24924640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> performed RT-PCR analysis of skin fibroblasts in 1 MALNS patient and 3 MRSHSS patients with NFIX mutations. They showed that the MALNS phenotype is due to NFIX haploinsufficiency, whereas the mutated RNAs in MRSHSS escape nonsense-mediated decay surveillance. <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> suggested that NFIX mutations causing MRSHSS generate mutant proteins able to exert a dominant-negative effect over the wildtype allele and result in a more severe phenotype closely resembling the knockout mouse model phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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="Martinez, F., Marin-Reina, P., Sanchis-Calvo, A., Perez-Aytes, A., Oltra, S., Rosello, M., Mayo, S., Monfort, S., Pantoja, J., Orellana, C. <strong>Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.</strong> Pediat. Res. 78: 533-539, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26200704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26200704</a>] [<a href="https://doi.org/10.1038/pr.2015.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26200704">Martinez et al. (2015)</a> reported 5 de novo mutations in the NFIX gene, including 1 splicing and 2 frameshift mutations in 3 patients with MRSHSS, and 2 missense mutations in the DNA-binding/dimerization domain in 2 patients with Malan syndrome. The authors reviewed previously reported NFIX mutations and concluded that MRSHSS-associated mutations are scattered through exons 6 to 10 of the gene, whereas most point mutations causing MALNS are clustered in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26200704" 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="#4" class="mim-tip-reference" title="Driller, K., Pagenstecher, A., Uhl, M., Omran, H., Berlis, A., Grunder, A., Sippel, A. E. <strong>Nuclear factor I X deficiency causes brain malformation and severe skeletal defects.</strong> Molec. Cell. Biol. 27: 3855-3867, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17353270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17353270</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17353270[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.02293-06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17353270">Driller et al. (2007)</a> obtained Nfix -/- mice at a normal mendelian ratio, but nearly all died before 1 month of age. Although Nfix -/- newborns appeared normal, they developed a dome-shaped head, were unable to fully open their eyes, had deformation of the spine, exhibited an ataxic gait, and were unable to gain weight. Heterozygous mice showed a slight weight reduction, but had no obvious anatomic or behavioral defects. Except for reduced size, most organs of Nfix -/- mice appeared histologically normal. However, the smaller digestive tract showed pathologic thinning of intestinal walls and reduced blood supply, and a general loss of muscle tissue was observed. Hydrocephalus, which developed after birth and progressed with age, was associated with partial agenesis of the corpus callosum in Nfix -/- and Nfix +/- mice. Skeletal pathology, including impaired endochondral ossification and decreased mineralization in femoral bone, also progressed with age and was associated with reduced expression of tetranecin (TNA; <a href="/entry/187520">187520</a>), a protein involved in mineralization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17353270" 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="Campbell, C. E., Piper, M., Plachez, C., Yeh, Y.-T., Baizer, J. S., Osinski, J. M., Litwack, E. D., Richards, L. J., Gronostajski, R. M. <strong>The transcription factor Nfix is essential for normal brain development.</strong> BMC Dev. Biol. 8: 52, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18477394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18477394</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18477394[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/10.1186/1471-213X-8-52" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18477394">Campbell et al. (2008)</a> found that the majority of Nfix -/- mice died before 1 month of age. However, those that survived to adulthood were fertile. Nfix -/- neonates showed a variety of brain abnormalities and delay in eye and ear opening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18477394" 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>Studies using mouse models found that Nfix is involved in hippocampal-dependent behavior (<a href="#6" class="mim-tip-reference" title="Harris, L., Dixon, C., Cato, K., Heng, Y. H. E., Kurniawan, N. D., Ullmann, J. F. P., Janke, A. L., Gronostajski, R. M., Richards, L. J., Burne, T. H. J., Piper, M. <strong>Heterozygosity for nuclear factor one X affects hippocampal-dependent behaviour in mice.</strong> PLoS One 8: e65478, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23776487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23776487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23776487[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/10.1371/journal.pone.0065478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23776487">Harris et al., 2013</a>), early B lymphopoiesis and myelopoiesis (<a href="#10" class="mim-tip-reference" title="O'Connor, C., Campos, J., Osinski, J. M., Gronostajski, R. M., Michie, A. M., Keeshan, K. <strong>Nfix expression critically modulates early B lymphopoiesis and myelopoiesis.</strong> PLoS One 10: e0120102, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25780920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25780920</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25780920[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/10.1371/journal.pone.0120102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25780920">O'Connor et al., 2015</a>), neural stem/progenitor cell fate (<a href="#17" class="mim-tip-reference" title="Zhou, B., Osinski, J. M., Mateo, J. L., Martynoga, B., Sim, F. J., Campbell, C. E., Guillemot, F., Piper, M., Gronostajski, R. M. <strong>Loss of NFIX transcription factor biases postnatal neural stem/progenitor cells toward oligodendrogenesis.</strong> Stem Cells Dev. 24: 2114-2126, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26083238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26083238</a>] [<a href="https://doi.org/10.1089/scd.2015.0136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26083238">Zhou et al., 2015</a>), and cell proliferation, migration, and gene expression in the subventricular zone (<a href="#7" class="mim-tip-reference" title="Heng, Y. H. E., Zhou, B., Harris, L., Harvey, T., Smith, A., Horne, E., Martynoga, B., Andersen, J., Achimastou, A., Cato, K., Richards, L. J., Gronostajski, R. M., Yeo, G. S., Guillemot, F., Bailey, T. L., Piper, M. <strong>NFIX regulates proliferation and migration within the murine SVZ neurogenic niche.</strong> Cereb. Cortex 25: 3758-3778, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25331604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25331604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25331604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/cercor/bhu253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25331604">Heng et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23776487+25331604+26083238+25780920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>15 Selected Examples</a>):</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 id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<div>
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<a href="/allelicVariants/164005" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=164005[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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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 MALAN SYNDROME</strong>
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</span>
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</h4>
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NFIX, GLN190TER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907253 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907253;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=rs387907253" 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=rs387907253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030636 OR RCV000990161" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030636, RCV000990161" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030636...</a>
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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 Malan syndrome (MALNS; <a href="/entry/614753">614753</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous de novo 568C-T transition within exon 3 of the NFIX gene, predicting a gln190-to-ter (Q190X) substitution. RT-PCR analysis of NFIX RNA in skin fibroblasts from this patient showed the expression of a single wildtype allele, indicating nonsense-mediated mRNA decay and haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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NFIX, 2-BP DEL, 1011TC
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122869;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=rs398122869" 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=rs398122869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030637</a>
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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 2-year-old patient from India with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 2-bp deletion in the NFIX gene (1011_1012delTC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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NFIX, 1-BP INS, 1037T
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122870;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=rs398122870" 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=rs398122870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030638" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030638" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030638</a>
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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 3-year-old patient from the Netherlands with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 1-bp insertion in the NFIX gene (1037_1038insT), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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NFIX, 5-BP DEL, NT1008
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122871 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122871;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=rs398122871" 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=rs398122871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030639" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030639" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030639</a>
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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 6-year-old patient from Brazil with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 5-bp deletion in the NFIX gene (1008_1012delCTCTC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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NFIX, 1-BP INS, 1048C
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122872 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122872;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=rs398122872" 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=rs398122872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030640" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030640" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030640</a>
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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 7-year-old patient from Portugal with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 1-bp insertion in the NFIX gene (1048_1049insC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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">rs398122873 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122873;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=rs398122873" 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=rs398122873" 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=RCV000030641" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030641" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030641</a>
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<p>In a 7-year-old French patient with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 1-bp deletion in the NFIX gene (1243delG), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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">rs398122874 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122874;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=rs398122874" 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=rs398122874" 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=RCV000030642" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030642" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030642</a>
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<p>In a 16-year-old British patient with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 1-bp insertion in the NFIX gene (994_995insT), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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">rs398122875 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122875;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=rs398122875" 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=rs398122875" 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=RCV000030643" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030643" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030643</a>
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<p>In a 21-year-old British patient with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous 1-bp insertion in the NFIX gene (959_960insC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" 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 MARSHALL-SMITH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398122876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122876;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/rs398122876?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=rs398122876" 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=rs398122876" 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=RCV000030644 OR RCV001731322" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030644, RCV001731322" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030644...</a>
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<p>In a 3-week-old patient with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous splice site mutation (955+1G-A). The mutation occurred de novo and was not observed in 300 control chromosomes. Both normal and mutated alleles were found in patient fibroblasts, suggesting that the mutation escapes nonsense-mediated decay and has a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 MARSHALL-SMITH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs398122876 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122876;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/rs398122876?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=rs398122876" 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=rs398122876" 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=RCV000030645 OR RCV002468979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030645, RCV002468979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030645...</a>
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<p>In a 6-month-old patient from Croatia with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#8" class="mim-tip-reference" title="Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V. <strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong> Am. J. Hum. Genet. 87: 189-198, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673863">Malan et al. (2010)</a> identified a heterozygous splice site mutation in the NFIX gene (955+1G-T). The mutation occurred de novo and was not observed in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant (patient 3) with MRSHSS, who died at 17 days of life due to respiratory failure, <a href="#9" class="mim-tip-reference" title="Martinez, F., Marin-Reina, P., Sanchis-Calvo, A., Perez-Aytes, A., Oltra, S., Rosello, M., Mayo, S., Monfort, S., Pantoja, J., Orellana, C. <strong>Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.</strong> Pediat. Res. 78: 533-539, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26200704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26200704</a>] [<a href="https://doi.org/10.1038/pr.2015.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26200704">Martinez et al. (2015)</a> identified heterozygosity for the IVS6+1G-T transversion (c.955+1G-T, NM_001271043.1) in the NFIX gene. The variant was shown to have arisen de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26200704" 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">rs387907254 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907254;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=rs387907254" 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=rs387907254" 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=RCV000030646" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030646" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030646</a>
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<p>In a 17-year-old female with Malan syndrome (MALNS; <a href="/entry/614753">614753</a>), <a href="#16" class="mim-tip-reference" title="Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Ogata, K., Naritomi, K., Matsumoto, N. <strong>Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.</strong> J. Hum. Genet. 57: 207-211, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22301465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22301465</a>] [<a href="https://doi.org/10.1038/jhg.2012.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22301465">Yoneda et al. (2012)</a> identified a heterozygous 179T-C transition in the NFIX gene, resulting in a leu60-to-pro (L60P) substitution in the DNA-binding/dimerization domain. The mutation occurred de novo and was not found in 250 healthy Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22301465" 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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NFIX, ARG121PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907255 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907255;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=rs387907255" 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=rs387907255" 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=RCV000030647" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030647" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030647</a>
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<p>In a 14-year-old male with Malan syndrome (MALNS; <a href="/entry/614753">614753</a>), <a href="#16" class="mim-tip-reference" title="Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Ogata, K., Naritomi, K., Matsumoto, N. <strong>Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.</strong> J. Hum. Genet. 57: 207-211, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22301465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22301465</a>] [<a href="https://doi.org/10.1038/jhg.2012.7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22301465">Yoneda et al. (2012)</a> identified a heterozygous 362G-C transversion in the NFIX gene, resulting in an arg121-to-pro (R121P) substitution in the DNA-binding/dimerization domain. The mutation may have been inherited from his mother who was not available for study. The mutation was not found in 250 healthy Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22301465" 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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NFIX, 1-BP DEL, 1456C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2018058219 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2018058219;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=rs2018058219" 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=rs2018058219" 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=RCV001072120" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001072120" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001072120</a>
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<p>In 2 unrelated male patients (P6 and P12) with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>), <a href="#13" class="mim-tip-reference" title="Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M. <strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong> Hum. Mutat. 35: 1092-1100, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24924640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24924640</a>] [<a href="https://doi.org/10.1002/humu.22603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24924640">Schanze et al. (2014)</a> identified heterozygosity for a 1-bp deletion (c.1456delC, ENST00000592199) in exon 10 of the NFIX gene, causing a frameshift predicted to result in a premature termination codon (Arg486GlyfsTer6). The mutation occurred de novo in both probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24924640" 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 MARSHALL-SMITH SYNDROME</strong>
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NFIX, EX6-7 DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001072121" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001072121" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001072121</a>
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<p>In a female patient (P14) with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>) who was originally described by <a href="#1" class="mim-tip-reference" title="Adam, M. P., Hennekam, R. C. M., Keppen, L. D., Bull, M. J., Clericuzio, C. L., Burke, L. W., Ormond, K. E., Hoyme, H. E. <strong>Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.</strong> Am. J. Med. Genet. 137A: 117-124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086394</a>] [<a href="https://doi.org/10.1002/ajmg.a.30580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086394">Adam et al. (2005)</a> (patient 3), <a href="#13" class="mim-tip-reference" title="Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M. <strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong> Hum. Mutat. 35: 1092-1100, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24924640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24924640</a>] [<a href="https://doi.org/10.1002/humu.22603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24924640">Schanze et al. (2014)</a> identified heterozygosity for a de novo 5.9-kb deletion (c.819-484_1079-700del, ENST00000592199), involving loss of exons 6 and 7 of the NFIX gene and causing a frameshift predicted to result in a premature termination codon (Ser273ArgfsTer63). Sequence analysis revealed that the distal and proximal breakpoints are located within 2 AluY repeats in intron 5 and intron 7, respectively; these elements have 92% sequence identity and are oriented in parallel. Genotyping the proband and her parents for 2 common SNPs located within the deleted region showed that the deletion arose on the paternal allele. The authors identified almost identical deletions involving NFIX exons 6 and 7 in 4 more patients with MRSHSS, and stated that this was the first recurrent mutation reported in MRSHSS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16086394+24924640" 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>.0015 MARSHALL-SMITH SYNDROME</strong>
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NFIX, EX6DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001072122" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001072122" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001072122</a>
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<p>In a male patient (P13) with Marshall-Smith syndrome (MRSHSS; <a href="/entry/602535">602535</a>) who was originally described by <a href="#3" class="mim-tip-reference" title="Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G., Gillerot, Y. <strong>Anaesthetic management of a child with Marshall-Smith syndrome.</strong> Can. J. Anaesth. 45: 660-663, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9717599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9717599</a>] [<a href="https://doi.org/10.1007/BF03012097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9717599">Dernedde et al. (1998)</a>, <a href="#13" class="mim-tip-reference" title="Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M. <strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong> Hum. Mutat. 35: 1092-1100, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24924640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24924640</a>] [<a href="https://doi.org/10.1002/humu.22603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24924640">Schanze et al. (2014)</a> identified heterozygosity for a deletion of exon 6 (c.818+561_956-804del, ENST00000592199) of the NFIX gene, causing a frameshift predicted to result in a premature termination codon (Ser273ArgfsTer104). The deletion spanned 3,223 bp, comprising all of exon 6, with breakpoints in introns 5 and 6 that did not involve AluY elements. DNA was unavailable from the parents for segregation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24924640+9717599" 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 href="https://doi.org/10.1002/ajmg.a.30580" target="_blank">Full Text</a>]
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<strong>Anaesthetic management of a child with Marshall-Smith syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9717599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9717599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9717599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.07.001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/pr.2015.135" target="_blank">Full Text</a>]
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Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M.
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<strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong>
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Hum. Mutat. 35: 1092-1100, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24924640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24924640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24924640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22603" target="_blank">Full Text</a>]
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</p>
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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="Scherthan1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scherthan, H., Seisenberger, C., Greulich, K., Winnacker, E.-L.
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|
<strong>Mapping of the murine nuclear factor I/X gene (Nfix) to mouse chromosome 8 C1-2 by FISH.</strong>
|
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Genomics 22: 247-249, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="Seisenberger1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seisenberger, C., Winnacker, E.-L., Scherthan, H.
|
|
<strong>Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH.</strong>
|
|
Hum. Genet. 91: 535-537, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8340106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8340106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8340106" 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/10.1007/BF00205076" 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="Yoneda2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Ogata, K., Naritomi, K., Matsumoto, N.
|
|
<strong>Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.</strong>
|
|
J. Hum. Genet. 57: 207-211, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22301465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22301465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22301465" 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.2012.7" 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="17" class="mim-anchor"></a>
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<a id="Zhou2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, B., Osinski, J. M., Mateo, J. L., Martynoga, B., Sim, F. J., Campbell, C. E., Guillemot, F., Piper, M., Gronostajski, R. M.
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|
<strong>Loss of NFIX transcription factor biases postnatal neural stem/progenitor cells toward oligodendrogenesis.</strong>
|
|
Stem Cells Dev. 24: 2114-2126, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26083238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26083238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26083238" 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/10.1089/scd.2015.0136" 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 : 04/14/2020
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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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Patricia A. Hartz - updated : 07/12/2017<br>Nara Sobreira - updated : 8/7/2012<br>Patricia A. Hartz - updated : 11/29/2007<br>Patricia A. Hartz - updated : 4/1/2003
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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 : 9/14/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/03/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/27/2022<br>carol : 01/26/2022<br>alopez : 04/14/2020<br>carol : 01/05/2018<br>alopez : 07/12/2017<br>alopez : 07/12/2017<br>terry : 08/08/2012<br>carol : 8/7/2012<br>mgross : 11/30/2007<br>terry : 11/29/2007<br>mgross : 4/3/2003<br>terry : 4/1/2003<br>carol : 8/18/1999<br>terry : 11/21/1997<br>mark : 8/17/1995<br>carol : 9/30/1994<br>carol : 9/14/1993
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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> 164005
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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NUCLEAR FACTOR I/X; NFIX
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NUCLEAR FACTOR I, X-TYPE<br />
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CCAAT-BINDING TRANSCRIPTION FACTOR<br />
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NF1A
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NFIX</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 73284007, 763795006;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 19p13.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:12,995,475-13,098,796 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
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19p13.13
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Malan syndrome
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
614753
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
Marshall-Smith syndrome
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
602535
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>NFIX belongs to a family of CCAAT-binding transcription factors that can initiate transcription of both vertebrate and viral genes (Santoro et al., 1988). </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>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Nuclear factor I is a ubiquitous 47-kD dimeric DNA-binding protein whose recognition sequence, TGG(C/A)N(5)GCCAA, is found in the genomes of a number of DNA viruses. The same sequence occurs frequently in the human genome. The NFI protein stimulates initiation of adenovirus DNA replication in vitro and is capable of stimulating the transcription of genes in cooperation with other factors, such as the estrogen receptor (ESR; 133430). Santoro et al. (1988) gave a detailed analysis of NFI cDNAs isolated from the human, which, with similar analyses in other species, indicated that it is a member of a family of related proteins. Four known variants were referred to as CTF, X, L, and Red. These are the products of different genes, some of which (e.g., the first, CTF, later symbolized NFIC; 600729) are subject to differential splicing. </p><p>Seisenberger et al. (1993) isolated 2 phages containing the second exon and flanking intron regions of the human gene for NFI/X, which has been designated NFIX. </p><p>Qian et al. (1995) isolated partial cDNA sequences from 4 nuclear factor I proteins: NFIA (600727), NFIB (600728), NFIC, and NFIX. </p><p>Grunder et al. (2003) identified 5 human NFIX splice variants have coding regions of 1,324, 1,300, 1,270, 469, and 433 nucleotides. The 2 longest protein isoforms have 4 conserved cysteines in an N-terminal DNA-binding domain, followed by a nuclear localization signal. Other NFIX isoforms lack the nuclear localization signal or part or all of the DNA-binding domain. </p><p>Malan et al. (2010) performed RT-PCR analysis and demonstrated ubiquitous expression of NFIX in all human tissues and cell types tested, including chondrocytes and osteoblasts. In situ hybridization in normal human embryos at CS17 (gestational day 42) showed a nearly ubiquitous expression of NFIX, with prominent expression in the central nervous system and the peripheral nervous system. In fetal brain at 22 weeks' gestation, NFIX was expressed in the cerebral cortex, in the hippocampus, and faintly in the thalamus. In the skeleton, NFIX expression was first noticed at CS17 in the mandibular arch, the cartilage primordium of the humerus, the scapula, and the vertebrae. In the limb, NFIX expression was first observed at CS17 in the perichondrium. At 14 weeks' gestation, NFIX was highly expressed in the proliferating zone of the digit. The study of distal femoral growth plates of 1- to 5-week-old mice and human fetus revealed strong NFIX expression in bone and in prehypertrophic chondrocytes. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Grunder et al. (2003) determined that the NFIX gene contains 11 exons. By ortholog comparisons using protein sequences from 7 vertebrate species, they identified 9 NFIX variants that are produced by alternative splicing. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Seisenberger et al. (1993) mapped the NFIX gene to 19p13. Secondary sites of hybridization were observed at 5p15, 1q42-q44, 1p22-p21, and 20p1.3; this hybridization was attributed to partial sequence homologies with related NFI genes. </p><p>By FISH, Qian et al. (1995) mapped the NFIA and NFIB genes to chromosomes 1p31.3-p31.2 and 9p24.1, respectively. The NFIC and NFIX genes were both localized to 19p13.3 in the order cen--NFIX--NFIC--tel. Comparison of the position of NFI genes and JUN genes revealed a close physical linkage between members of the NFI and JUN gene families; for example, one JUN gene (165160) is on 1p32-p31, and both JUNB (165161) and JUND (165162) are located on 19p. </p><p>Scherthan et al. (1994) used fluorescence in situ hybridization to map the murine Nfix gene to chromosome 8C1-C2, confirming the segmental homology between human chromosome 19p13 and mouse chromosome 8C. Although the location of the other NFI genes in the mouse had not been established, Qian et al. (1995) suggested that from the imperative map between human and mouse, the Nfia could be predicted to be located on mouse chromosome 4 where the murine c-jun is located and the Nfic locus on mouse chromosome 8 where the murine junD and junB genes are located. They speculated further that a genomic unit containing an ancestral NFI gene and an ancestral JUN gene existed early in evolution, later duplicated twice, and then underwent further changes. If this hypothesis is correct, one can suspect the existence of a fourth member of the JUN gene family, probably located close to the NFIB gene. The postulated fourth JUN gene would then be predicted to map to human 9 at 9p24.1 and murine chromosome 4. </p><p>By FISH, Grunder et al. (2003) mapped the mouse Nfix gene to the distal region of chromosome 8C. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p><strong><em>Malan Syndrome</em></strong></p><p>
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Malan et al. (2010) used a high-resolution array CGH in 18 patients with unexplained syndromic overgrowth and identified 2 patients with a de novo 19p13.1 monosomy. The deletions involved a single common gene, NFIX. Malan et al. (2010) then screened 76 patients with unexplained syndromic overgrowth for NIFX mutations and identified a heterozygous nonsense mutation (Q190X; 164005.0001) in 1 patient with Malan syndrome (MALNS; 614753), who had been diagnosed with a 'Sotos-like syndrome' (see SOTOS, 117550). This patient and the 2 patients with 19p13.1 monosomy had a similar phenotype consisting of postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis, unusual behavior characterized especially by anxiety, and mental retardation. The variant was not observed in 300 control chromosomes. </p><p>Yoneda et al. (2012) examined NFIX by high-resolution melt analysis in 48 individuals who were suspected of having Sotos syndrome but who did not have NSD1 (606681) abnormalities, which are found in Sotos syndrome. They identified 2 heterozygous missense mutations in the DNA-binding/dimerization domain of the NFIX protein (164005.0011-164005.0012). Neither mutation was found in 250 healthy Japanese controls. </p><p><strong><em>Marshall-Smith Syndrome</em></strong></p><p>
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|
Based on an Nfix-deficient mouse model with a phenotype similar to that in Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) screened 9 individuals with MRSHSS for NFIX mutations and found heterozygosity for 7 independent frameshift mutations (164005.0002-164005.0008) and 2 different mutations within the donor splice site of exon 6 (164005.0009-164005.0010). All of the mutations occurred de novo and were not found in 300 control chromosomes. </p><p>Schanze et al. (2014) analyzed the NFIX gene in 17 patients with a clinical diagnosis of MRSHSS and identified heterozygous mutations in all, confirming that MRSHSS is a genetically homogeneous mendelian disorder. Frameshift or splicing mutations were present in 10 patients (see, e.g., 164005.0013), 5 patients carried almost-identical deletions of exons 6 and 7 (see, e.g., 164005.0014), and 2 patients had smaller deletions involving exon 6 (see, e.g., 164005.0015). The authors noted that predicted MRSHSS-associated mutant NFIX proteins all have a preserved DNA binding and dimerization domain, whereas they vary widely in their C-terminal portion, supporting the hypothesis that MRSHSS-associated mutations encode dysfunctional proteins that act in a dominant-negative manner. The patients exhibited a consistent phenotype, with no obvious correlation between phenotype and specific alterations of the C-terminal portion of the NFIX protein. </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>Genotype/Phenotype Correlations</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>Malan et al. (2010) performed RT-PCR analysis of skin fibroblasts in 1 MALNS patient and 3 MRSHSS patients with NFIX mutations. They showed that the MALNS phenotype is due to NFIX haploinsufficiency, whereas the mutated RNAs in MRSHSS escape nonsense-mediated decay surveillance. Malan et al. (2010) suggested that NFIX mutations causing MRSHSS generate mutant proteins able to exert a dominant-negative effect over the wildtype allele and result in a more severe phenotype closely resembling the knockout mouse model phenotype. </p><p>Martinez et al. (2015) reported 5 de novo mutations in the NFIX gene, including 1 splicing and 2 frameshift mutations in 3 patients with MRSHSS, and 2 missense mutations in the DNA-binding/dimerization domain in 2 patients with Malan syndrome. The authors reviewed previously reported NFIX mutations and concluded that MRSHSS-associated mutations are scattered through exons 6 to 10 of the gene, whereas most point mutations causing MALNS are clustered in exon 2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Driller et al. (2007) obtained Nfix -/- mice at a normal mendelian ratio, but nearly all died before 1 month of age. Although Nfix -/- newborns appeared normal, they developed a dome-shaped head, were unable to fully open their eyes, had deformation of the spine, exhibited an ataxic gait, and were unable to gain weight. Heterozygous mice showed a slight weight reduction, but had no obvious anatomic or behavioral defects. Except for reduced size, most organs of Nfix -/- mice appeared histologically normal. However, the smaller digestive tract showed pathologic thinning of intestinal walls and reduced blood supply, and a general loss of muscle tissue was observed. Hydrocephalus, which developed after birth and progressed with age, was associated with partial agenesis of the corpus callosum in Nfix -/- and Nfix +/- mice. Skeletal pathology, including impaired endochondral ossification and decreased mineralization in femoral bone, also progressed with age and was associated with reduced expression of tetranecin (TNA; 187520), a protein involved in mineralization. </p><p>Campbell et al. (2008) found that the majority of Nfix -/- mice died before 1 month of age. However, those that survived to adulthood were fertile. Nfix -/- neonates showed a variety of brain abnormalities and delay in eye and ear opening. </p><p>Studies using mouse models found that Nfix is involved in hippocampal-dependent behavior (Harris et al., 2013), early B lymphopoiesis and myelopoiesis (O'Connor et al., 2015), neural stem/progenitor cell fate (Zhou et al., 2015), and cell proliferation, migration, and gene expression in the subventricular zone (Heng et al., 2015). </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>15 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 MALAN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, GLN190TER
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<br />
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SNP: rs387907253,
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ClinVar: RCV000030636, RCV000990161
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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 Malan syndrome (MALNS; 614753), Malan et al. (2010) identified a heterozygous de novo 568C-T transition within exon 3 of the NFIX gene, predicting a gln190-to-ter (Q190X) substitution. RT-PCR analysis of NFIX RNA in skin fibroblasts from this patient showed the expression of a single wildtype allele, indicating nonsense-mediated mRNA decay and haploinsufficiency. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, 2-BP DEL, 1011TC
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<br />
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SNP: rs398122869,
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ClinVar: RCV000030637
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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 2-year-old patient from India with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 2-bp deletion in the NFIX gene (1011_1012delTC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </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>.0003 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, 1-BP INS, 1037T
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<br />
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SNP: rs398122870,
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ClinVar: RCV000030638
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old patient from the Netherlands with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 1-bp insertion in the NFIX gene (1037_1038insT), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, 5-BP DEL, NT1008
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|
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<br />
|
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|
|
SNP: rs398122871,
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|
|
ClinVar: RCV000030639
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-year-old patient from Brazil with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 5-bp deletion in the NFIX gene (1008_1012delCTCTC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, 1-BP INS, 1048C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122872,
|
|
|
|
|
|
|
|
ClinVar: RCV000030640
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old patient from Portugal with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 1-bp insertion in the NFIX gene (1048_1049insC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, 1-BP DEL, 1243G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122873,
|
|
|
|
|
|
|
|
ClinVar: RCV000030641
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old French patient with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 1-bp deletion in the NFIX gene (1243delG), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, 1-BP INS, 994T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122874,
|
|
|
|
|
|
|
|
ClinVar: RCV000030642
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old British patient with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 1-bp insertion in the NFIX gene (994_995insT), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, 1-BP INS, 959C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122875,
|
|
|
|
|
|
|
|
ClinVar: RCV000030643
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-year-old British patient with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous 1-bp insertion in the NFIX gene (959_960insC), resulting in a frameshift and premature termination. The mutation occurred de novo and was not observed in 300 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, IVS6DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122876,
|
|
|
|
|
|
gnomAD: rs398122876,
|
|
|
|
|
|
ClinVar: RCV000030644, RCV001731322
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-week-old patient with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous splice site mutation (955+1G-A). The mutation occurred de novo and was not observed in 300 control chromosomes. Both normal and mutated alleles were found in patient fibroblasts, suggesting that the mutation escapes nonsense-mediated decay and has a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MARSHALL-SMITH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, IVS6DS, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122876,
|
|
|
|
|
|
gnomAD: rs398122876,
|
|
|
|
|
|
ClinVar: RCV000030645, RCV002468979
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-month-old patient from Croatia with Marshall-Smith syndrome (MRSHSS; 602535), Malan et al. (2010) identified a heterozygous splice site mutation in the NFIX gene (955+1G-T). The mutation occurred de novo and was not observed in 300 control chromosomes. </p><p>In a female infant (patient 3) with MRSHSS, who died at 17 days of life due to respiratory failure, Martinez et al. (2015) identified heterozygosity for the IVS6+1G-T transversion (c.955+1G-T, NM_001271043.1) in the NFIX gene. The variant was shown to have arisen de novo. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MALAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
NFIX, LEU60PRO
|
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|
|
|
<br />
|
|
|
|
SNP: rs387907254,
|
|
|
|
|
|
|
|
ClinVar: RCV000030646
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old female with Malan syndrome (MALNS; 614753), Yoneda et al. (2012) identified a heterozygous 179T-C transition in the NFIX gene, resulting in a leu60-to-pro (L60P) substitution in the DNA-binding/dimerization domain. The mutation occurred de novo and was not found in 250 healthy Japanese controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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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">
|
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<strong>.0012 MALAN SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, ARG121PRO
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<br />
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SNP: rs387907255,
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ClinVar: RCV000030647
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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 14-year-old male with Malan syndrome (MALNS; 614753), Yoneda et al. (2012) identified a heterozygous 362G-C transversion in the NFIX gene, resulting in an arg121-to-pro (R121P) substitution in the DNA-binding/dimerization domain. The mutation may have been inherited from his mother who was not available for study. The mutation was not found in 250 healthy 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>.0013 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, 1-BP DEL, 1456C
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<br />
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SNP: rs2018058219,
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ClinVar: RCV001072120
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated male patients (P6 and P12) with Marshall-Smith syndrome (MRSHSS; 602535), Schanze et al. (2014) identified heterozygosity for a 1-bp deletion (c.1456delC, ENST00000592199) in exon 10 of the NFIX gene, causing a frameshift predicted to result in a premature termination codon (Arg486GlyfsTer6). The mutation occurred de novo in both probands. </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>.0014 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, EX6-7 DEL
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<br />
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ClinVar: RCV001072121
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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 female patient (P14) with Marshall-Smith syndrome (MRSHSS; 602535) who was originally described by Adam et al. (2005) (patient 3), Schanze et al. (2014) identified heterozygosity for a de novo 5.9-kb deletion (c.819-484_1079-700del, ENST00000592199), involving loss of exons 6 and 7 of the NFIX gene and causing a frameshift predicted to result in a premature termination codon (Ser273ArgfsTer63). Sequence analysis revealed that the distal and proximal breakpoints are located within 2 AluY repeats in intron 5 and intron 7, respectively; these elements have 92% sequence identity and are oriented in parallel. Genotyping the proband and her parents for 2 common SNPs located within the deleted region showed that the deletion arose on the paternal allele. The authors identified almost identical deletions involving NFIX exons 6 and 7 in 4 more patients with MRSHSS, and stated that this was the first recurrent mutation reported in MRSHSS patients. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0015 MARSHALL-SMITH SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NFIX, EX6DEL
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<br />
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ClinVar: RCV001072122
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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 male patient (P13) with Marshall-Smith syndrome (MRSHSS; 602535) who was originally described by Dernedde et al. (1998), Schanze et al. (2014) identified heterozygosity for a deletion of exon 6 (c.818+561_956-804del, ENST00000592199) of the NFIX gene, causing a frameshift predicted to result in a premature termination codon (Ser273ArgfsTer104). The deletion spanned 3,223 bp, comprising all of exon 6, with breakpoints in introns 5 and 6 that did not involve AluY elements. DNA was unavailable from the parents for segregation analysis. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Adam, M. P., Hennekam, R. C. M., Keppen, L. D., Bull, M. J., Clericuzio, C. L., Burke, L. W., Ormond, K. E., Hoyme, H. E.
|
|
<strong>Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.</strong>
|
|
Am. J. Med. Genet. 137A: 117-124, 2005.
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[PubMed: 16086394]
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[Full Text: https://doi.org/10.1002/ajmg.a.30580]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Campbell, C. E., Piper, M., Plachez, C., Yeh, Y.-T., Baizer, J. S., Osinski, J. M., Litwack, E. D., Richards, L. J., Gronostajski, R. M.
|
|
<strong>The transcription factor Nfix is essential for normal brain development.</strong>
|
|
BMC Dev. Biol. 8: 52, 2008. Note: Electronic Article.
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[PubMed: 18477394]
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[Full Text: https://doi.org/10.1186/1471-213X-8-52]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G., Gillerot, Y.
|
|
<strong>Anaesthetic management of a child with Marshall-Smith syndrome.</strong>
|
|
Can. J. Anaesth. 45: 660-663, 1998.
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[PubMed: 9717599]
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[Full Text: https://doi.org/10.1007/BF03012097]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Driller, K., Pagenstecher, A., Uhl, M., Omran, H., Berlis, A., Grunder, A., Sippel, A. E.
|
|
<strong>Nuclear factor I X deficiency causes brain malformation and severe skeletal defects.</strong>
|
|
Molec. Cell. Biol. 27: 3855-3867, 2007.
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[PubMed: 17353270]
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[Full Text: https://doi.org/10.1128/MCB.02293-06]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Grunder, A., Qian, F., Ebel, T. T., Mincheva, A., Lichter, P., Kruse, U., Sippel, A. E.
|
|
<strong>Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor nuclear factor one.</strong>
|
|
Gene 304: 171-181, 2003.
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|
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[PubMed: 12568726]
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[Full Text: https://doi.org/10.1016/s0378-1119(02)01204-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Harris, L., Dixon, C., Cato, K., Heng, Y. H. E., Kurniawan, N. D., Ullmann, J. F. P., Janke, A. L., Gronostajski, R. M., Richards, L. J., Burne, T. H. J., Piper, M.
|
|
<strong>Heterozygosity for nuclear factor one X affects hippocampal-dependent behaviour in mice.</strong>
|
|
PLoS One 8: e65478, 2013. Note: Electronic Article.
|
|
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|
|
[PubMed: 23776487]
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[Full Text: https://doi.org/10.1371/journal.pone.0065478]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Heng, Y. H. E., Zhou, B., Harris, L., Harvey, T., Smith, A., Horne, E., Martynoga, B., Andersen, J., Achimastou, A., Cato, K., Richards, L. J., Gronostajski, R. M., Yeo, G. S., Guillemot, F., Bailey, T. L., Piper, M.
|
|
<strong>NFIX regulates proliferation and migration within the murine SVZ neurogenic niche.</strong>
|
|
Cereb. Cortex 25: 3758-3778, 2015.
|
|
|
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|
|
[PubMed: 25331604]
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|
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[Full Text: https://doi.org/10.1093/cercor/bhu253]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Louis dit Picard, H., Layet, V., Till, M., van Haeringen, A., Mortier, G., Nampoothiri, S., Puseljic, S., Legeai-Mallet, L., Carter, N. P., Vekemans, M., Munnich, A., Hennekam, R. C., Colleaux, L., Cormier-Daire, V.
|
|
<strong>Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.</strong>
|
|
Am. J. Hum. Genet. 87: 189-198, 2010.
|
|
|
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|
|
[PubMed: 20673863]
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|
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.001]
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|
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Martinez, F., Marin-Reina, P., Sanchis-Calvo, A., Perez-Aytes, A., Oltra, S., Rosello, M., Mayo, S., Monfort, S., Pantoja, J., Orellana, C.
|
|
<strong>Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.</strong>
|
|
Pediat. Res. 78: 533-539, 2015.
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|
|
[PubMed: 26200704]
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[Full Text: https://doi.org/10.1038/pr.2015.135]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
O'Connor, C., Campos, J., Osinski, J. M., Gronostajski, R. M., Michie, A. M., Keeshan, K.
|
|
<strong>Nfix expression critically modulates early B lymphopoiesis and myelopoiesis.</strong>
|
|
PLoS One 10: e0120102, 2015. Note: Electronic Article.
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|
|
[PubMed: 25780920]
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[Full Text: https://doi.org/10.1371/journal.pone.0120102]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Qian, F., Kruse, U., Lichter, P., Sippel, A. E.
|
|
<strong>Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.</strong>
|
|
Genomics 28: 66-73, 1995.
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|
|
[PubMed: 7590749]
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|
[Full Text: https://doi.org/10.1006/geno.1995.1107]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Santoro, C., Mermod, N., Andrews, P. C., Tjian, R.
|
|
<strong>A family of human CCAAT-box-binding proteins active in transcription and DNA replication: cloning and expression of multiple cDNAs.</strong>
|
|
Nature 334: 218-224, 1988.
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|
|
[PubMed: 3398920]
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[Full Text: https://doi.org/10.1038/334218a0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M.-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., Zenker, M.
|
|
<strong>Deletions in the 3-prime part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.</strong>
|
|
Hum. Mutat. 35: 1092-1100, 2014.
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|
|
[PubMed: 24924640]
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|
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[Full Text: https://doi.org/10.1002/humu.22603]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Scherthan, H., Seisenberger, C., Greulich, K., Winnacker, E.-L.
|
|
<strong>Mapping of the murine nuclear factor I/X gene (Nfix) to mouse chromosome 8 C1-2 by FISH.</strong>
|
|
Genomics 22: 247-249, 1994.
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|
|
[PubMed: 7959784]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Seisenberger, C., Winnacker, E.-L., Scherthan, H.
|
|
<strong>Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome 19p13 and detection of five other related loci at 1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH.</strong>
|
|
Hum. Genet. 91: 535-537, 1993.
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|
|
[PubMed: 8340106]
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[Full Text: https://doi.org/10.1007/BF00205076]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Yoneda, Y., Saitsu, H., Touyama, M., Makita, Y., Miyamoto, A., Hamada, K., Kurotaki, N., Tomita, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Ogata, K., Naritomi, K., Matsumoto, N.
|
|
<strong>Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.</strong>
|
|
J. Hum. Genet. 57: 207-211, 2012.
|
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|
|
[PubMed: 22301465]
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[Full Text: https://doi.org/10.1038/jhg.2012.7]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Zhou, B., Osinski, J. M., Mateo, J. L., Martynoga, B., Sim, F. J., Campbell, C. E., Guillemot, F., Piper, M., Gronostajski, R. M.
|
|
<strong>Loss of NFIX transcription factor biases postnatal neural stem/progenitor cells toward oligodendrogenesis.</strong>
|
|
Stem Cells Dev. 24: 2114-2126, 2015.
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|
|
[PubMed: 26083238]
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|
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[Full Text: https://doi.org/10.1089/scd.2015.0136]
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</p>
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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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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 04/14/2020<br>Patricia A. Hartz - updated : 07/12/2017<br>Nara Sobreira - updated : 8/7/2012<br>Patricia A. Hartz - updated : 11/29/2007<br>Patricia A. Hartz - updated : 4/1/2003
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 9/14/1993
|
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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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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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carol : 02/03/2022<br>carol : 01/27/2022<br>carol : 01/26/2022<br>alopez : 04/14/2020<br>carol : 01/05/2018<br>alopez : 07/12/2017<br>alopez : 07/12/2017<br>terry : 08/08/2012<br>carol : 8/7/2012<br>mgross : 11/30/2007<br>terry : 11/29/2007<br>mgross : 4/3/2003<br>terry : 4/1/2003<br>carol : 8/18/1999<br>terry : 11/21/1997<br>mark : 8/17/1995<br>carol : 9/30/1994<br>carol : 9/14/1993
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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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<br />
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