4194 lines
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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">*300160</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="#geneFunction">Gene Function</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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300160">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000215301;t=ENST00000644876" 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=1654" 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=300160" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000215301;t=ENST00000644876" 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_001193416,NM_001193417,NM_001356,NM_001363819,NR_126093,NR_126094,XM_011543892" 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_001356" 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=300160" 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=02154&isoform_id=02154_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/DDX3X" 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/2148924,2580550,2580552,3023628,3523150,15080078,55507560,62087546,87196351,119579806,119579807,119579808,119579809,158255742,194384604,194386186,194388104,194388152,197692141,197692387,301171467,301171475,768033078,1394533282,2462628491" 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/O00571" 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=1654" 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=ENSG00000215301;t=ENST00000644876" 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=DDX3X" 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=DDX3X" 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+1654" 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/DDX3X" 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:1654" 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/1654" 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=chrX&hgg_gene=ENST00000644876.2&hgg_start=41333308&hgg_end=41364472&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:2745" 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:2745" 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=300160[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=300160[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/DDX3X/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/ENSG00000215301" 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=DDX3X" 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=DDX3X" 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=DDX3X" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/DDX3X" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DDX3X&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/PA27216" 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:2745" 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/FBgn0263231.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/search?q=MGI:103064 MGI:91842" 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/DDX3X#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/batch/summary?idType=MGI&ids=MGI:103064 MGI:91842" 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/1654/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=1654" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00002244;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00002244 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00006888;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00006888 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-1565" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:300160" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1654" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=DDX3X&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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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300160
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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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DEAD-BOX HELICASE 3, X-LINKED; DDX3X
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DEAD/H-BOX 3, X-LINKED<br />
|
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DDX3<br />
|
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DBX
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DDX3X" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DDX3X</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/178?start=-3&limit=10&highlight=178">Xp11.4</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:41333308-41364472&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'})">X:41,333,308-41,364,472</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/178?start=-3&limit=10&highlight=178">
|
|
Xp11.4
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, X-linked syndromic, Snijders Blok type
|
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/300958"> 300958 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<p>The DDX3X gene encodes a conserved DEAD-box RNA helicase that is important in a variety of cellular processes, including transcription, splicing, RNA transport, and translation. The DDX3X gene in particular has been associated with cell cycle control, apoptosis, and tumorigenesis. It is thought to be an essential factor in the RNAi pathway, and is a key regulator of the WNT (see, e.g., WNT3A, <a href="/entry/606359">606359</a>)/CTNNB1 (<a href="/entry/116806">116806</a>) pathway (summary by <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" 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>DEAD box proteins are putative RNA helicases that have a characteristic asp-glu-ala-asp (DEAD) box as 1 of 8 highly conserved sequence motifs. <a href="#4" class="mim-tip-reference" title="Chung, J., Lee, S.-G., Song, K. <strong>Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells.</strong> Korean J. Biochem. 27: 193-197, 1995."None>Chung et al. (1995)</a> cloned cDNAs encoding DDX3, a member of the DEAD box protein family.</p><p><a href="#10" class="mim-tip-reference" title="Lahn, B. T., Page, D. C. <strong>Functional coherence of the human Y chromosome.</strong> Science 278: 675-680, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9381176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9381176</a>] [<a href="https://doi.org/10.1126/science.278.5338.675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9381176">Lahn and Page (1997)</a> identified DDX3, which they called DBX, as 1 of 5 X-linked genes that have homologs located in the nonrecombining region of the Y chromosome (NRY). They determined that these 5 X-linked genes escape X inactivation. <a href="#10" class="mim-tip-reference" title="Lahn, B. T., Page, D. C. <strong>Functional coherence of the human Y chromosome.</strong> Science 278: 675-680, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9381176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9381176</a>] [<a href="https://doi.org/10.1126/science.278.5338.675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9381176">Lahn and Page (1997)</a> postulated that these 5 genes are cases in which gene expression is maintained at comparable levels in males and females by preservation of homologous genes on both the X and the NRY, with male and female cells expressing both copies of each gene. Sequence analysis revealed that DBX shares 91% protein sequence identity with DBY (<a href="/entry/400010">400010</a>), the Y-linked homolog. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9381176" 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 single transcript in its unspliced and spliced forms directs synthesis of all human immunodeficiency virus (HIV)-1 proteins. Although nuclear export of intron-containing cellular transcripts is restricted in mammalian cells, HIV-1 has evolved the viral Rev protein to overcome this restriction for viral transcripts. CRM1 (XPO1; <a href="/entry/602559">602559</a>) is a cellular cofactor for Rev-dependent export of intron-containing HIV-1 RNA. <a href="#16" class="mim-tip-reference" title="Yedavalli, V. S. R. K., Neuveut, C., Chi, Y., Kleiman, L., Jeang, K.-T. <strong>Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function.</strong> Cell 119: 381-392, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15507209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15507209</a>] [<a href="https://doi.org/10.1016/j.cell.2004.09.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15507209">Yedavalli et al. (2004)</a> presented evidence that Rev/CRM1 activity uses the ATP-dependent RNA helicase DDX3. They showed that DDX3 is a nucleocytoplasmic shuttling protein that binds CRM1 and localizes to nuclear membrane pores. Knockdown of DDX3 using either antisense vector or dominant-negative mutants suppressed Rev-RRE (Rev response element) function in the export of incompletely spliced HIV-1 RNAs. <a href="#16" class="mim-tip-reference" title="Yedavalli, V. S. R. K., Neuveut, C., Chi, Y., Kleiman, L., Jeang, K.-T. <strong>Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function.</strong> Cell 119: 381-392, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15507209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15507209</a>] [<a href="https://doi.org/10.1016/j.cell.2004.09.029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15507209">Yedavalli et al. (2004)</a> concluded that DDX3 is the human RNA helicase that functions in the CRM1 RNA export pathway analogously to the postulated role for Dbp5 (<a href="/entry/605812">605812</a>) in yeast mRNA export. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15507209" 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="Cruciat, C.- M., Dolde, C., de Groot, R. E. A., Ohkawara, B., Reinhard, C., Korswagen, H. C., Niehrs, C. <strong>RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-beta-catenin signaling.</strong> Science 339: 1436-1441, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23413191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23413191</a>] [<a href="https://doi.org/10.1126/science.1231499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23413191">Cruciat et al. (2013)</a> identified the DEAD box RNA helicase DDX3 as a regulator of the Wnt (see <a href="/entry/164820">164820</a>)-beta-catenin (<a href="/entry/116806">116806</a>)M network, where it acts as a regulatory subunit of CK1-epsilon (<a href="/entry/600863">600863</a>): in a Wnt-dependent manner, DDX3 binds CK1-epsilon and directly stimulates its kinase activity, and promotes phosphorylation of the scaffold protein dishevelled (see <a href="/entry/601365">601365</a>). DDX3 is required for Wnt-beta-catenin signaling in mammalian cells and during Xenopus and C. elegans development. <a href="#5" class="mim-tip-reference" title="Cruciat, C.- M., Dolde, C., de Groot, R. E. A., Ohkawara, B., Reinhard, C., Korswagen, H. C., Niehrs, C. <strong>RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-beta-catenin signaling.</strong> Science 339: 1436-1441, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23413191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23413191</a>] [<a href="https://doi.org/10.1126/science.1231499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23413191">Cruciat et al. (2013)</a> concluded that their results suggested that the kinase-stimulatory function extends to other DDX and CK1 members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23413191" 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 integrating transcriptomewide analyses of translation, RNA structure, and Ded1p-RNA binding in S. cerevisiae, <a href="#7" class="mim-tip-reference" title="Guenther, U.-P., Weinberg, D. E., Zubradt, M. M., Tedeschi, F. A., Stawicki, B. N., Zagore, L. L., Brar, G. A., Licatalosi, D. D., Bartel, D. P., Weissman, J. S., Jankowsky, E. <strong>The helicase Ded1p controls use of near-cognate translation initiation codons in 5-prime UTRs.</strong> Nature 559: 130-134, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29950728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29950728</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29950728[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-018-0258-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29950728">Guenther et al. (2018)</a> showed that the effects of Ded1p (the yeast ortholog of DDX3) on the initiation of translation are connected to near-cognate initiation codons in 5-prime untranslated regions. Ded1p associates with the translation preinitiation complex at the mRNA entry channel, and repressing the activity of Ded1p leads to the accumulation of RNA structure in 5-prime untranslated regions, the initiation of translation from near-cognate start codons immediately upstream of these structures, and decreased protein synthesis from the corresponding main open reading frames. The data revealed a program for the regulation of translation that links Ded1p, the activation of near-cognate start codons, and mRNA structure. This program has a role in meiosis, in which a marked decrease in the levels of Ded1p is accompanied by the activation of the alternative translation initiation sites that are seen when the activity of Ded1p is repressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29950728" 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="Samir, P., Kesavardhana, S., Patmore, D. M., Gingras, S., Malireddi, R. K. S., Karki, R., Guy, C. S., Briard, B., Place, D. E., Bhattacharya, A., Sharma, B. R., Nourse, A., King, S. V., Pitre, A., Burton, A. R., Pelletier, S., Gilbertson, R. J., Kanneganti, T. D. <strong>DDX3X acts as a live-or-die checkpoint in stressed cells by regulating NLRP3 inflammasome.</strong> Nature 573: 590-594, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31511697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31511697</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31511697[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1551-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31511697">Samir et al. (2019)</a> showed that the induction of stress granules specifically inhibits NLRP3 (<a href="/entry/606416">606416</a>) inflammasome activation, ASC (<a href="/entry/606838">606838</a>) speck formation, and pyroptosis. The stress granule protein DDX3X interacts with NLRP3 to drive inflammasome activation. Assembly of stress granules leads to the sequestration of DDX3X, and thereby the inhibition of NLRP3 inflammasome activation. Stress granules and the NLRP3 inflammasome compete for DDX3X molecules to coordinate the activation of innate responses and subsequent cell-fate decisions under stress conditions. Induction of stress granules or loss of DDX3X in the myeloid compartment leads to a decrease in the production of inflammasome-dependent cytokines in vivo. The findings of <a href="#13" class="mim-tip-reference" title="Samir, P., Kesavardhana, S., Patmore, D. M., Gingras, S., Malireddi, R. K. S., Karki, R., Guy, C. S., Briard, B., Place, D. E., Bhattacharya, A., Sharma, B. R., Nourse, A., King, S. V., Pitre, A., Burton, A. R., Pelletier, S., Gilbertson, R. J., Kanneganti, T. D. <strong>DDX3X acts as a live-or-die checkpoint in stressed cells by regulating NLRP3 inflammasome.</strong> Nature 573: 590-594, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31511697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31511697</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31511697[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-019-1551-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31511697">Samir et al. (2019)</a> suggested that macrophages use the availability of DDX3X to interpret stress signals and choose between prosurvival stress granules and pyroptotic ASC specks. The authors concluded that their data demonstrated the role of DDX3X in driving NLRP3 inflammasome and stress granule assembly, and suggested a rheostat-like mechanistic paradigm for regulating live-or-die cell fate decisions under stress conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31511697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using knockdown analysis in hamster BHK-21 cells, <a href="#8" class="mim-tip-reference" title="Han, S., Sun, S., Li, P., Liu, Q., Zhang, Z., Dong, H., Sun, M., Wu, W., Wang, X., Guo, H. <strong>Ribosomal protein L13 promotes IRES-driven translation of foot-and-mouth disease virus in a helicase DDX3-dependent manner.</strong> J. Virol. 94: e01679-19, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31619563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31619563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31619563[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/JVI.01679-19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31619563">Han et al. (2020)</a> identified Rpl13 (<a href="/entry/113703">113703</a>) as an essential factor for replication of foot-and-mouth disease virus (FMDV). Rpl13 and Ddx3 interacted through the N-terminal region of Ddx3, and both proteins associated with the internal ribosome entry site (IRES) of the FMDV 5-prime UTR, thereby facilitating IRES-driven translation and promoting FMDV replication. The C-terminal region of Ddx3 was required for its association with the viral IRES. Rpl13 functioned downstream of Ddx3, and its interaction with the IRES was Ddx3 dependent. Ddx3 cooperated with Rpl13 to support assembly of 80S ribosomes for optimal translation initiation of FMDV mRNA, which also involved binding of Eif3e (<a href="/entry/602210">602210</a>) and Eif3j (<a href="/entry/603910">603910</a>) to the IRES. Further analysis demonstrated that the Rpl13 regulator function was also involved in infection of Seneca Valley virus and classical swine fever virus, but not vesicular stomatitis virus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31619563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using genomewide knockout screens in human cells, <a href="#3" class="mim-tip-reference" title="Cheng, W., Wang, S., Zhang, Z., Morgens, D. W., Hayes, L. R., Lee, S., Portz, B., Xie, Y., Nguyen, B. V., Haney, M. S., Yan, S., Dong, D., and 10 others. <strong>CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated non-AUG translation.</strong> Neuron 104: 885-898, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31587919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31587919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31587919[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.neuron.2019.09.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31587919">Cheng et al. (2019)</a> showed that the NXF1 (<a href="/entry/602647">602647</a>)-NXT1 (<a href="/entry/605811">605811</a>) pathway mediated nuclear export of C9ORF72 (<a href="/entry/614260">614260</a>) GGGGCC repeat-containing RNA to the cytoplasm for translation, thereby influencing C9ORF72 dipeptide repeat (DPR) protein production. DDX3X was identified as a modifier of DPR protein production, as it suppressed repeat-associated non-AUG (RAN) translation of C9ORF72 (GGGGCC)n repeats by directly and selectively binding to GGGGCC repeat RNA. Binding to GGGGCC repeat RNA activated DDX3X ATPase activity for RNA structure unwinding, and translation repression required DDX3X helicase activity. Similarly, loss of Bel, the Drosophila ortholog of DDX3X, enhanced GGGGCC repeat toxicity in Drosophila, whereas ectopic expression of Bel partially rescued it, identifying Bel as a genetic modifier of GGGGCC repeat-mediated toxicity in vivo. ELISA revealed that DDX3X expression modulated repeat-mediated toxicity in amyotrophic lateral sclerosis (ALS; <a href="/entry/105550">105550</a>) patient cells by regulating DPR production from RAN translation <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31587919" 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="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified 35 different de novo heterozygous mutations in the DDX3X gene (see, e.g., <a href="#0001">300160.0001</a>-<a href="#0004">300160.0004</a>) in 38 girls with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>). The mutations were found by whole-exome sequencing of 3 large cohorts of patients referred for testing (including the <a href="#6" class="mim-tip-reference" title="Deciphering Developmental Disorders Study. <strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong> Nature 519: 223-228, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature14135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25533962">Deciphering Developmental Disorders Study, 2015</a>); DDX3X mutations were found in 1 to 3% of these patient cohorts, rendering it one of the most common causes of intellectual disability in females. Nineteen of the mutations were predicted to result in complete loss of function, resulting in haploinsufficiency in the female patients. In vitro cellular functional expression studies and in vivo studies in zebrafish of some of the identified missense mutations showed that they caused a loss of function in the canonical WNT signaling pathway with a disruption of beta-catenin signaling. There was no evidence for a dominant-negative effect, and <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> postulated haploinsufficiency as the disease mechanism. De novo variants were not found in any male patients who were part of the cohorts, but affected males in 3 unrelated families were found to carry hemizygous missense mutations in the DDX3X gene (see, e.g., <a href="#0005">300160.0005</a>) that were inherited from an unaffected mother. Functional studies indicated no differences between the male mutant alleles and wildtype, but <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> speculated that they were pathogenic and that the effect of the mutant alleles was beyond the detection range of the assays. The results were consistent with the hypothesis that DDX3X is dosage sensitive and may have differential activity in females than in males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25533962+26235985" 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 whole-exome sequencing, <a href="#9" class="mim-tip-reference" title="Kellaris, G., Khan, K., Baig, S. M., Tsai, I.-C., Zamora, F. M., Ruggieri, P., Natowicz, M. R., Katsanis, N. <strong>A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.</strong> Hum. Genomics 12: 11, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29490693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29490693</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29490693[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/s40246-018-0141-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29490693">Kellaris et al. (2018)</a> identified a maternally inherited missense mutation (R79K; <a href="#0006">300160.0006</a>) in the DDX3X gene in 2 brothers with MRXSSB. Functional testing of DDX3X activity in zebrafish embryos showed that the allele causes a partial loss of DDX3X function, indicating a hypomorphic variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29490693" 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 3 unrelated males with MRXSSB, <a href="#11" class="mim-tip-reference" title="Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J. <strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong> Am. J. Med. Genet. 179A: 570-578, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30734472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30734472</a>] [<a href="https://doi.org/10.1002/ajmg.a.61061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30734472">Nicola et al. (2019)</a> identified hemizygous missense mutations in the DDX3X gene (see, e.g., R376H, <a href="#0007">300160.0007</a> and V496M, <a href="#0008">300160.0008</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, occurred de novo in 2 of the patients. <a href="#11" class="mim-tip-reference" title="Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J. <strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong> Am. J. Med. Genet. 179A: 570-578, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30734472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30734472</a>] [<a href="https://doi.org/10.1002/ajmg.a.61061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30734472">Nicola et al. (2019)</a> proposed that de novo DDX3X mutations are not necessarily male lethal and therefore should be considered as a cause of syndromic impaired intellectual development in both males and females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30734472" 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 whole-exome sequencing, <a href="#14" class="mim-tip-reference" title="Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V. <strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong> Europ. J. Hum. Genet. 27: 1254-1259, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30936465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30936465</a>] [<a href="https://doi.org/10.1038/s41431-019-0392-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30936465">Scala et al. (2019)</a> identified 3 different de novo heterozygous mutations in the DDX3X in 3 unrelated females with MRXSSB (<a href="#0009">300160.0009</a>-<a href="#0011">300160.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30936465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Beal, B., Hayes, I., McGaughran, J., Amor, D. J., Miteff, C., Jackson, V., van Reyk, O., Subramanian, G., Hildebrand, M. S., Morgan, A. T., Goel, H. <strong>Expansion of phenotype of DDX3X syndrome: six new cases.</strong> Clin. Dysmorph. 28: 169-174, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31274575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31274575</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31274575">Beal et al. (2019)</a> identified 5 novel heterozygous DDX3X mutations (4 frameshifts and 1 splice site) in 6 females with MRXSSB from 5 unrelated families. Two sibs had the same frameshift mutation (<a href="#0012">300160.0012</a>); parental testing for this mutation was negative, suggesting germline mosaicism. Although both girls had impaired intellectual development, the older sister was more severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31274575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using exome sequencing, <a href="#2" class="mim-tip-reference" title="Chanes, N. M., Wong, J., Lacassie, Y. <strong>Further delineation of DDX3X syndrome.</strong> Clin. Dysmorph. 28: 149-151, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30817323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30817323</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30817323">Chanes et al. (2019)</a> identified a de novo frameshift mutation (<a href="#0013">300160.0013</a>) in the DDX3X gene in a 10-year-old girl with MRXSSB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30817323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated girls with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified a de novo heterozygous c.1126C-T transition (c.1126C-T, NM_001356.4) in the DDX3X gene, resulting in an arg376-to-cys (R376C) substitution in the helicase ATP-binding domain. The mutations were found by whole-exome sequencing of several large cohorts of patients with intellectual disability; R376C was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the R376C mutation caused a loss of protein function, consistent with haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" 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">rs797045024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045024;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=rs797045024" 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=rs797045024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 3-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified a de novo heterozygous c.1520T-C transition (c.1520T-C, NM_001356.4) in the DDX3X gene, resulting in an ile507-to-thr (I507T) substitution in the helicase C terminal domain. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the I507T mutation caused a loss of protein function, consistent with haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" 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>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs797045025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045025;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=rs797045025" 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=rs797045025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 13-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified a de novo heterozygous c.977G-A transition (c.977G-A, NM_001356.4) in the DDX3X gene, resulting in an arg326-to-his (R326H) substitution in the helicase ATP-binding domain. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the R326H mutation caused a loss of protein function, consistent with haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs869320681 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320681;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=rs869320681" 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=rs869320681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 13-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified a de novo heterozygous c.873C-A transversion (c.873C-A, NM_001356.4) in the DDX3X gene, resulting in a tyr291-to-ter (Y291X) substitution. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. The mutation was predicted to result in a loss of function, causing haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs797045026 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045026;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=rs797045026" 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=rs797045026" 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=RCV000190554 OR RCV002254914" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190554, RCV002254914" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190554...</a>
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<p>In 2 brothers and a maternal uncle with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> identified a hemizygous c.1084C-T transition (c.1084C-T, NM_001356.4) in the DDX3X gene, resulting in an arg362-to-cys (R362C) substitution in the helicase ATP-binding domain. The mutation, which was found by X-chromosome exome sequencing, was not found in the ExAC or Exome Variant Server databases. It segregated with the disorder in the family, and the unaffected mother was heterozygous for the mutation. The transmission pattern of the disorder in this family was consistent with X-linked recessive inheritance. In vitro and in vivo functional studies in zebrafish showed no difference of the mutant protein in WNT signaling compared to wildtype, but <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> speculated that the variant was pathogenic and that the effect of the mutation was beyond the detection range of the assays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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> rs1064795656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064795656;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/rs1064795656?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=rs1064795656" 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=rs1064795656" 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=RCV000478243 OR RCV001093533" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000478243, RCV001093533" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000478243...</a>
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<p>By exome sequencing in 2 brothers with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#9" class="mim-tip-reference" title="Kellaris, G., Khan, K., Baig, S. M., Tsai, I.-C., Zamora, F. M., Ruggieri, P., Natowicz, M. R., Katsanis, N. <strong>A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.</strong> Hum. Genomics 12: 11, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29490693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29490693</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29490693[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/s40246-018-0141-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29490693">Kellaris et al. (2018)</a> detected a maternally inherited c.236G-A transition in the DDX3X gene, resulting in an arg79-to-lys (R79K) substitution at a conserved residue located proximal to the helicase ATP-binding domain. Functional analysis in zebrafish embryos indicated that the discovered allele is likely a hypomorph. Both brothers had impaired intellectual development and progressive spasticity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29490693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs2063908570 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2063908570;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=rs2063908570" 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=rs2063908570" 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=RCV001093534" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001093534" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001093534</a>
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<p>In a 9-year-old boy (patient 1; Decipher ID: 301323) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#11" class="mim-tip-reference" title="Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J. <strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong> Am. J. Med. Genet. 179A: 570-578, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30734472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30734472</a>] [<a href="https://doi.org/10.1002/ajmg.a.61061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30734472">Nicola et al. (2019)</a> identified a hemizygous c.1127G-A transition (c.1127G-A, NM_001356.4) in the DDX3X gene, resulting in an arg376-to-his (R376H) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was absent in the parents, suggesting a de novo mutation. A de novo mutation at the same codon (R376C; <a href="#0001">300160.0001</a>) was reported by <a href="#15" class="mim-tip-reference" title="Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others. <strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong> Am. J. Hum. Genet. 97: 343-352, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[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.2015.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26235985">Snijders Blok et al. (2015)</a> in females with MRXSSB. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26235985+30734472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
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DDX3X, VAL496MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555954154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555954154;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=rs1555954154" 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=rs1555954154" 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=RCV000660645" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000660645" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000660645</a>
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<p>In an 8-year-old boy (patient 2) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#11" class="mim-tip-reference" title="Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J. <strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong> Am. J. Med. Genet. 179A: 570-578, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30734472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30734472</a>] [<a href="https://doi.org/10.1002/ajmg.a.61061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30734472">Nicola et al. (2019)</a> identified a de novo hemizygous c.1486G-A transition (c.1486G-A, NM_001356.4) in the DDX3X gene, resulting in a val496-to-met (V496M) substitution at a highly conserved reside in the helicase C-terminal domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. The patient had impaired intellectual development, cardiac defects, cataracts, and mild conductive hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30734472" 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
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DDX3X, GLY504GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2063927503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2063927503;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=rs2063927503" 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=rs2063927503" 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=RCV001093535" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001093535" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001093535</a>
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<p>In an 11-year-old girl (patient 1) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#14" class="mim-tip-reference" title="Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V. <strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong> Europ. J. Hum. Genet. 27: 1254-1259, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30936465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30936465</a>] [<a href="https://doi.org/10.1038/s41431-019-0392-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30936465">Scala et al. (2019)</a> identified a heterozygous c.1511G-A transition (c.1511G-A, NM_001356.3) in the DDX3X gene, resulting in a gly504-to-glu (G504E) substitution. The mutation, which was found by whole-exome sequencing, was confirmed by Sanger sequencing. The patient had a history of global developmental delay, absent speech, spastic tetraparesis, and severe scoliosis. She was incidentally diagnosed with a cerebellar pilocytic astrocytoma at age 8. The authors noted that DDX3X plays a crucial role in cell cycle progression and is involved in the Wnt/Beta-catenin signalling pathway and has been reported in Wnt-driven medulloblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30936465" 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs2063923605 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2063923605;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=rs2063923605" 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=rs2063923605" 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=RCV001093536" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001093536" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001093536</a>
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<p>In a 2-year-old girl (patient 2) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#14" class="mim-tip-reference" title="Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V. <strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong> Europ. J. Hum. Genet. 27: 1254-1259, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30936465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30936465</a>] [<a href="https://doi.org/10.1038/s41431-019-0392-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30936465">Scala et al. (2019)</a> identified a heterozygous del/ins mutation (c.1436_1439delinsTCTC, NM_001356.3) in the DDX3X gene, resulting in an Asp479Arg480delinsValSer protein change. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30936465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs2063876114 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2063876114;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=rs2063876114" 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=rs2063876114" 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=RCV001093537" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001093537" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001093537</a>
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<p>In a 10-year-old girl (patient 3) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#14" class="mim-tip-reference" title="Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V. <strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong> Europ. J. Hum. Genet. 27: 1254-1259, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30936465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30936465</a>] [<a href="https://doi.org/10.1038/s41431-019-0392-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30936465">Scala et al. (2019)</a> identified a heterozygous 3-bp deletion (c.641_643delTCA, NM_001356.3) in the DDX3X gene, resulting in deletion of an isoleucine residue (Ile214del). The patient had impaired intellectual development, microcephaly, hypotonia, and hand stereotypies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30936465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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">rs1602131859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602131859;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=rs1602131859" 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=rs1602131859" 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=RCV001093538" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001093538" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001093538</a>
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<p>In 2 sisters (patients 4 and 5) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#1" class="mim-tip-reference" title="Beal, B., Hayes, I., McGaughran, J., Amor, D. J., Miteff, C., Jackson, V., van Reyk, O., Subramanian, G., Hildebrand, M. S., Morgan, A. T., Goel, H. <strong>Expansion of phenotype of DDX3X syndrome: six new cases.</strong> Clin. Dysmorph. 28: 169-174, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31274575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31274575</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31274575">Beal et al. (2019)</a> identified a de novo heterozygous 4-bp deletion (c.828-831del, NM_001356.4) in the DDX3X gene, resulting in a frameshift and a premature termination codon (Arg276SerfsTer44). Parental testing for the mutation was negative, suggesting germline mosaicism. Although both girls had impaired intellectual development, the older sister was more severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31274575" 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>.0013 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
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DDX3X, 2-BP DEL, NT1535
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs796052230 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796052230;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=rs796052230" 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=rs796052230" 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=RCV000190107 OR RCV001093539 OR RCV001256979 OR RCV002287388 OR RCV002317665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190107, RCV001093539, RCV001256979, RCV002287388, RCV002317665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190107...</a>
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<p>By exome sequencing in a 10-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; <a href="/entry/300958">300958</a>), <a href="#2" class="mim-tip-reference" title="Chanes, N. M., Wong, J., Lacassie, Y. <strong>Further delineation of DDX3X syndrome.</strong> Clin. Dysmorph. 28: 149-151, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30817323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30817323</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30817323">Chanes et al. (2019)</a> identified a de novo heterozygous 2-bp deletion (c.1535_1536del) in the DDX3X gene, resulting in a frameshift and a premature termination codon (His512ArgfsTer5). The patient, who was born prematurely at 25 weeks' gestation, had impaired intellectual development, behavioral problems, and minor dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30817323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Beal2019" class="mim-anchor"></a>
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Beal, B., Hayes, I., McGaughran, J., Amor, D. J., Miteff, C., Jackson, V., van Reyk, O., Subramanian, G., Hildebrand, M. S., Morgan, A. T., Goel, H.
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<strong>Expansion of phenotype of DDX3X syndrome: six new cases.</strong>
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Clin. Dysmorph. 28: 169-174, 2019.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31274575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31274575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31274575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000289" target="_blank">Full Text</a>]
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<a id="Chanes2019" class="mim-anchor"></a>
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Chanes, N. M., Wong, J., Lacassie, Y.
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<strong>Further delineation of DDX3X syndrome.</strong>
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Clin. Dysmorph. 28: 149-151, 2019.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30817323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30817323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30817323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000263" target="_blank">Full Text</a>]
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|
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|
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|
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<a id="Cheng2019" class="mim-anchor"></a>
|
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Cheng, W., Wang, S., Zhang, Z., Morgens, D. W., Hayes, L. R., Lee, S., Portz, B., Xie, Y., Nguyen, B. V., Haney, M. S., Yan, S., Dong, D., and 10 others.
|
|
<strong>CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated non-AUG translation.</strong>
|
|
Neuron 104: 885-898, 2019.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31587919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31587919</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31587919[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31587919" 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.neuron.2019.09.003" target="_blank">Full Text</a>]
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|
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<li>
|
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<a id="Chung1995" class="mim-anchor"></a>
|
|
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|
|
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|
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Chung, J., Lee, S.-G., Song, K.
|
|
<strong>Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells.</strong>
|
|
Korean J. Biochem. 27: 193-197, 1995.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
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</li>
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|
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Cruciat, C.- M., Dolde, C., de Groot, R. E. A., Ohkawara, B., Reinhard, C., Korswagen, H. C., Niehrs, C.
|
|
<strong>RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-beta-catenin signaling.</strong>
|
|
Science 339: 1436-1441, 2013.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23413191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23413191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23413191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1231499" target="_blank">Full Text</a>]
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<a id="{Deciphering Developmental Disorders Study}2015" class="mim-anchor"></a>
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Deciphering Developmental Disorders Study.
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<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
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Nature 519: 223-228, 2015.
|
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25533962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25533962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25533962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25533962" 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/nature14135" target="_blank">Full Text</a>]
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<a id="Guenther2018" class="mim-anchor"></a>
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Guenther, U.-P., Weinberg, D. E., Zubradt, M. M., Tedeschi, F. A., Stawicki, B. N., Zagore, L. L., Brar, G. A., Licatalosi, D. D., Bartel, D. P., Weissman, J. S., Jankowsky, E.
|
|
<strong>The helicase Ded1p controls use of near-cognate translation initiation codons in 5-prime UTRs.</strong>
|
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Nature 559: 130-134, 2018.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29950728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29950728</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29950728[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29950728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-018-0258-0" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
|
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<a id="Han2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Han, S., Sun, S., Li, P., Liu, Q., Zhang, Z., Dong, H., Sun, M., Wu, W., Wang, X., Guo, H.
|
|
<strong>Ribosomal protein L13 promotes IRES-driven translation of foot-and-mouth disease virus in a helicase DDX3-dependent manner.</strong>
|
|
J. Virol. 94: e01679-19, 2020. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31619563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31619563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31619563[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31619563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/JVI.01679-19" target="_blank">Full Text</a>]
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</p>
|
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|
|
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|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Kellaris2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kellaris, G., Khan, K., Baig, S. M., Tsai, I.-C., Zamora, F. M., Ruggieri, P., Natowicz, M. R., Katsanis, N.
|
|
<strong>A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.</strong>
|
|
Hum. Genomics 12: 11, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29490693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29490693</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29490693[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29490693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
|
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[<a href="https://doi.org/10.1186/s40246-018-0141-y" target="_blank">Full Text</a>]
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|
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</p>
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</div>
|
|
</li>
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<li>
|
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<a id="10" class="mim-anchor"></a>
|
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<a id="Lahn1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lahn, B. T., Page, D. C.
|
|
<strong>Functional coherence of the human Y chromosome.</strong>
|
|
Science 278: 675-680, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9381176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9381176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9381176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1126/science.278.5338.675" target="_blank">Full Text</a>]
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
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<a id="Nicola2019" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
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Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J.
|
|
<strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong>
|
|
Am. J. Med. Genet. 179A: 570-578, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30734472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30734472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30734472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61061" 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="12" class="mim-anchor"></a>
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<a id="Park1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Park, S. H., Lee, S.-G., Kim, Y., Song, K.
|
|
<strong>Assignment of a human putative RNA helicase gene, DDX3, to human X chromosome bands p11.3-p11.23.</strong>
|
|
Cytogenet. Cell Genet. 81: 178-179, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9730595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000015022" 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="13" class="mim-anchor"></a>
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<a id="Samir2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Samir, P., Kesavardhana, S., Patmore, D. M., Gingras, S., Malireddi, R. K. S., Karki, R., Guy, C. S., Briard, B., Place, D. E., Bhattacharya, A., Sharma, B. R., Nourse, A., King, S. V., Pitre, A., Burton, A. R., Pelletier, S., Gilbertson, R. J., Kanneganti, T. D.
|
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<strong>DDX3X acts as a live-or-die checkpoint in stressed cells by regulating NLRP3 inflammasome.</strong>
|
|
Nature 573: 590-594, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31511697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31511697</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31511697[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31511697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-019-1551-2" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Scala2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V.
|
|
<strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong>
|
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Europ. J. Hum. Genet. 27: 1254-1259, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30936465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30936465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30936465" 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/s41431-019-0392-7" 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="15" class="mim-anchor"></a>
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<a id="Snijders Blok2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others.
|
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<strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong>
|
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Am. J. Hum. Genet. 97: 343-352, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26235985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26235985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26235985[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26235985" 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.2015.07.004" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Yedavalli2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yedavalli, V. S. R. K., Neuveut, C., Chi, Y., Kleiman, L., Jeang, K.-T.
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<strong>Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function.</strong>
|
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Cell 119: 381-392, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15507209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15507209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15507209" 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.cell.2004.09.029" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</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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Bao Lige - updated : 02/01/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Bao Lige - updated : 05/21/2020<br>Ada Hamosh - updated : 05/11/2020<br>Kelly A. Przylepa - updated : 05/07/2020<br>Ada Hamosh - updated : 09/06/2018<br>Cassandra L. Kniffin - updated : 9/1/2015<br>Ada Hamosh - updated : 5/29/2013<br>Stylianos E. Antonarakis - updated : 1/19/2005
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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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Rebekah S. Rasooly : 11/19/1998
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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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mgross : 02/01/2022
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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 : 07/15/2020<br>mgross : 07/14/2020<br>mgross : 06/05/2020<br>mgross : 05/21/2020<br>alopez : 05/11/2020<br>carol : 05/08/2020<br>carol : 05/07/2020<br>alopez : 09/06/2018<br>carol : 07/03/2017<br>carol : 09/04/2015<br>ckniffin : 9/1/2015<br>alopez : 5/29/2013<br>alopez : 3/4/2009<br>mgross : 1/19/2005<br>alopez : 1/5/1999<br>alopez : 11/20/1998<br>alopez : 11/19/1998
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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> 300160
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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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DEAD-BOX HELICASE 3, X-LINKED; DDX3X
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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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DEAD/H-BOX 3, X-LINKED<br />
|
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DDX3<br />
|
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DBX
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: DDX3X</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>
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<em>
|
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Cytogenetic location: Xp11.4
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:41,333,308-41,364,472 </span>
|
|
</em>
|
|
</strong>
|
|
<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>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
Xp11.4
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Intellectual developmental disorder, X-linked syndromic, Snijders Blok type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300958
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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X-linked dominant; X-linked recessive
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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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<span class="mim-text-font">
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<p>The DDX3X gene encodes a conserved DEAD-box RNA helicase that is important in a variety of cellular processes, including transcription, splicing, RNA transport, and translation. The DDX3X gene in particular has been associated with cell cycle control, apoptosis, and tumorigenesis. It is thought to be an essential factor in the RNAi pathway, and is a key regulator of the WNT (see, e.g., WNT3A, 606359)/CTNNB1 (116806) pathway (summary by Snijders Blok et al., 2015). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>DEAD box proteins are putative RNA helicases that have a characteristic asp-glu-ala-asp (DEAD) box as 1 of 8 highly conserved sequence motifs. Chung et al. (1995) cloned cDNAs encoding DDX3, a member of the DEAD box protein family.</p><p>Lahn and Page (1997) identified DDX3, which they called DBX, as 1 of 5 X-linked genes that have homologs located in the nonrecombining region of the Y chromosome (NRY). They determined that these 5 X-linked genes escape X inactivation. Lahn and Page (1997) postulated that these 5 genes are cases in which gene expression is maintained at comparable levels in males and females by preservation of homologous genes on both the X and the NRY, with male and female cells expressing both copies of each gene. Sequence analysis revealed that DBX shares 91% protein sequence identity with DBY (400010), the Y-linked homolog. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A single transcript in its unspliced and spliced forms directs synthesis of all human immunodeficiency virus (HIV)-1 proteins. Although nuclear export of intron-containing cellular transcripts is restricted in mammalian cells, HIV-1 has evolved the viral Rev protein to overcome this restriction for viral transcripts. CRM1 (XPO1; 602559) is a cellular cofactor for Rev-dependent export of intron-containing HIV-1 RNA. Yedavalli et al. (2004) presented evidence that Rev/CRM1 activity uses the ATP-dependent RNA helicase DDX3. They showed that DDX3 is a nucleocytoplasmic shuttling protein that binds CRM1 and localizes to nuclear membrane pores. Knockdown of DDX3 using either antisense vector or dominant-negative mutants suppressed Rev-RRE (Rev response element) function in the export of incompletely spliced HIV-1 RNAs. Yedavalli et al. (2004) concluded that DDX3 is the human RNA helicase that functions in the CRM1 RNA export pathway analogously to the postulated role for Dbp5 (605812) in yeast mRNA export. </p><p>Cruciat et al. (2013) identified the DEAD box RNA helicase DDX3 as a regulator of the Wnt (see 164820)-beta-catenin (116806)M network, where it acts as a regulatory subunit of CK1-epsilon (600863): in a Wnt-dependent manner, DDX3 binds CK1-epsilon and directly stimulates its kinase activity, and promotes phosphorylation of the scaffold protein dishevelled (see 601365). DDX3 is required for Wnt-beta-catenin signaling in mammalian cells and during Xenopus and C. elegans development. Cruciat et al. (2013) concluded that their results suggested that the kinase-stimulatory function extends to other DDX and CK1 members. </p><p>By integrating transcriptomewide analyses of translation, RNA structure, and Ded1p-RNA binding in S. cerevisiae, Guenther et al. (2018) showed that the effects of Ded1p (the yeast ortholog of DDX3) on the initiation of translation are connected to near-cognate initiation codons in 5-prime untranslated regions. Ded1p associates with the translation preinitiation complex at the mRNA entry channel, and repressing the activity of Ded1p leads to the accumulation of RNA structure in 5-prime untranslated regions, the initiation of translation from near-cognate start codons immediately upstream of these structures, and decreased protein synthesis from the corresponding main open reading frames. The data revealed a program for the regulation of translation that links Ded1p, the activation of near-cognate start codons, and mRNA structure. This program has a role in meiosis, in which a marked decrease in the levels of Ded1p is accompanied by the activation of the alternative translation initiation sites that are seen when the activity of Ded1p is repressed. </p><p>Samir et al. (2019) showed that the induction of stress granules specifically inhibits NLRP3 (606416) inflammasome activation, ASC (606838) speck formation, and pyroptosis. The stress granule protein DDX3X interacts with NLRP3 to drive inflammasome activation. Assembly of stress granules leads to the sequestration of DDX3X, and thereby the inhibition of NLRP3 inflammasome activation. Stress granules and the NLRP3 inflammasome compete for DDX3X molecules to coordinate the activation of innate responses and subsequent cell-fate decisions under stress conditions. Induction of stress granules or loss of DDX3X in the myeloid compartment leads to a decrease in the production of inflammasome-dependent cytokines in vivo. The findings of Samir et al. (2019) suggested that macrophages use the availability of DDX3X to interpret stress signals and choose between prosurvival stress granules and pyroptotic ASC specks. The authors concluded that their data demonstrated the role of DDX3X in driving NLRP3 inflammasome and stress granule assembly, and suggested a rheostat-like mechanistic paradigm for regulating live-or-die cell fate decisions under stress conditions. </p><p>Using knockdown analysis in hamster BHK-21 cells, Han et al. (2020) identified Rpl13 (113703) as an essential factor for replication of foot-and-mouth disease virus (FMDV). Rpl13 and Ddx3 interacted through the N-terminal region of Ddx3, and both proteins associated with the internal ribosome entry site (IRES) of the FMDV 5-prime UTR, thereby facilitating IRES-driven translation and promoting FMDV replication. The C-terminal region of Ddx3 was required for its association with the viral IRES. Rpl13 functioned downstream of Ddx3, and its interaction with the IRES was Ddx3 dependent. Ddx3 cooperated with Rpl13 to support assembly of 80S ribosomes for optimal translation initiation of FMDV mRNA, which also involved binding of Eif3e (602210) and Eif3j (603910) to the IRES. Further analysis demonstrated that the Rpl13 regulator function was also involved in infection of Seneca Valley virus and classical swine fever virus, but not vesicular stomatitis virus. </p><p>Using genomewide knockout screens in human cells, Cheng et al. (2019) showed that the NXF1 (602647)-NXT1 (605811) pathway mediated nuclear export of C9ORF72 (614260) GGGGCC repeat-containing RNA to the cytoplasm for translation, thereby influencing C9ORF72 dipeptide repeat (DPR) protein production. DDX3X was identified as a modifier of DPR protein production, as it suppressed repeat-associated non-AUG (RAN) translation of C9ORF72 (GGGGCC)n repeats by directly and selectively binding to GGGGCC repeat RNA. Binding to GGGGCC repeat RNA activated DDX3X ATPase activity for RNA structure unwinding, and translation repression required DDX3X helicase activity. Similarly, loss of Bel, the Drosophila ortholog of DDX3X, enhanced GGGGCC repeat toxicity in Drosophila, whereas ectopic expression of Bel partially rescued it, identifying Bel as a genetic modifier of GGGGCC repeat-mediated toxicity in vivo. ELISA revealed that DDX3X expression modulated repeat-mediated toxicity in amyotrophic lateral sclerosis (ALS; 105550) patient cells by regulating DPR production from RAN translation </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Park et al. (1998) mapped the DDX3X gene to chromosome Xp11.3-p11.23. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Snijders Blok et al. (2015) identified 35 different de novo heterozygous mutations in the DDX3X gene (see, e.g., 300160.0001-300160.0004) in 38 girls with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958). The mutations were found by whole-exome sequencing of 3 large cohorts of patients referred for testing (including the Deciphering Developmental Disorders Study, 2015); DDX3X mutations were found in 1 to 3% of these patient cohorts, rendering it one of the most common causes of intellectual disability in females. Nineteen of the mutations were predicted to result in complete loss of function, resulting in haploinsufficiency in the female patients. In vitro cellular functional expression studies and in vivo studies in zebrafish of some of the identified missense mutations showed that they caused a loss of function in the canonical WNT signaling pathway with a disruption of beta-catenin signaling. There was no evidence for a dominant-negative effect, and Snijders Blok et al. (2015) postulated haploinsufficiency as the disease mechanism. De novo variants were not found in any male patients who were part of the cohorts, but affected males in 3 unrelated families were found to carry hemizygous missense mutations in the DDX3X gene (see, e.g., 300160.0005) that were inherited from an unaffected mother. Functional studies indicated no differences between the male mutant alleles and wildtype, but Snijders Blok et al. (2015) speculated that they were pathogenic and that the effect of the mutant alleles was beyond the detection range of the assays. The results were consistent with the hypothesis that DDX3X is dosage sensitive and may have differential activity in females than in males. </p><p>By whole-exome sequencing, Kellaris et al. (2018) identified a maternally inherited missense mutation (R79K; 300160.0006) in the DDX3X gene in 2 brothers with MRXSSB. Functional testing of DDX3X activity in zebrafish embryos showed that the allele causes a partial loss of DDX3X function, indicating a hypomorphic variant. </p><p>In 3 unrelated males with MRXSSB, Nicola et al. (2019) identified hemizygous missense mutations in the DDX3X gene (see, e.g., R376H, 300160.0007 and V496M, 300160.0008). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, occurred de novo in 2 of the patients. Nicola et al. (2019) proposed that de novo DDX3X mutations are not necessarily male lethal and therefore should be considered as a cause of syndromic impaired intellectual development in both males and females. </p><p>By whole-exome sequencing, Scala et al. (2019) identified 3 different de novo heterozygous mutations in the DDX3X in 3 unrelated females with MRXSSB (300160.0009-300160.0011). </p><p>Beal et al. (2019) identified 5 novel heterozygous DDX3X mutations (4 frameshifts and 1 splice site) in 6 females with MRXSSB from 5 unrelated families. Two sibs had the same frameshift mutation (300160.0012); parental testing for this mutation was negative, suggesting germline mosaicism. Although both girls had impaired intellectual development, the older sister was more severely affected. </p><p>Using exome sequencing, Chanes et al. (2019) identified a de novo frameshift mutation (300160.0013) in the DDX3X gene in a 10-year-old girl with MRXSSB. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, ARG376CYS
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<br />
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SNP: rs796052231,
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ClinVar: RCV000190550, RCV001257982, RCV001310709
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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 3 unrelated girls with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Snijders Blok et al. (2015) identified a de novo heterozygous c.1126C-T transition (c.1126C-T, NM_001356.4) in the DDX3X gene, resulting in an arg376-to-cys (R376C) substitution in the helicase ATP-binding domain. The mutations were found by whole-exome sequencing of several large cohorts of patients with intellectual disability; R376C was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the R376C mutation caused a loss of protein function, consistent with 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>
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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, ILE507THR
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<br />
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SNP: rs797045024,
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ClinVar: RCV000190551
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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 girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Snijders Blok et al. (2015) identified a de novo heterozygous c.1520T-C transition (c.1520T-C, NM_001356.4) in the DDX3X gene, resulting in an ile507-to-thr (I507T) substitution in the helicase C terminal domain. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the I507T mutation caused a loss of protein function, consistent with 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>
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<span class="mim-font">
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<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, ARG326HIS
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<br />
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SNP: rs797045025,
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ClinVar: RCV000190552, RCV000521776, RCV000623237, RCV003313052
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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 13-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Snijders Blok et al. (2015) identified a de novo heterozygous c.977G-A transition (c.977G-A, NM_001356.4) in the DDX3X gene, resulting in an arg326-to-his (R326H) substitution in the helicase ATP-binding domain. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. In vitro cellular functional expression studies and in vivo studies in zebrafish indicated that the R326H mutation caused a loss of protein function, consistent with 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>
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<span class="mim-font">
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, TYR291TER
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<br />
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SNP: rs869320681,
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ClinVar: RCV000190553
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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 13-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Snijders Blok et al. (2015) identified a de novo heterozygous c.873C-A transversion (c.873C-A, NM_001356.4) in the DDX3X gene, resulting in a tyr291-to-ter (Y291X) substitution. The mutation, which was found by whole-exome sequencing of several large cohorts of patients with intellectual disability, was not found in the ExAC or Exome Variant Server databases. The mutation was predicted to result in a loss of function, causing 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>
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<span class="mim-font">
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, ARG362CYS
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<br />
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SNP: rs797045026,
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ClinVar: RCV000190554, RCV002254914
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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 brothers and a maternal uncle with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Snijders Blok et al. (2015) identified a hemizygous c.1084C-T transition (c.1084C-T, NM_001356.4) in the DDX3X gene, resulting in an arg362-to-cys (R362C) substitution in the helicase ATP-binding domain. The mutation, which was found by X-chromosome exome sequencing, was not found in the ExAC or Exome Variant Server databases. It segregated with the disorder in the family, and the unaffected mother was heterozygous for the mutation. The transmission pattern of the disorder in this family was consistent with X-linked recessive inheritance. In vitro and in vivo functional studies in zebrafish showed no difference of the mutant protein in WNT signaling compared to wildtype, but Snijders Blok et al. (2015) speculated that the variant was pathogenic and that the effect of the mutation was beyond the detection range of the assays. </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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<h4>
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<span class="mim-font">
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</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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DDX3X, ARG79LYS
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<br />
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SNP: rs1064795656,
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gnomAD: rs1064795656,
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ClinVar: RCV000478243, RCV001093533
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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>By exome sequencing in 2 brothers with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Kellaris et al. (2018) detected a maternally inherited c.236G-A transition in the DDX3X gene, resulting in an arg79-to-lys (R79K) substitution at a conserved residue located proximal to the helicase ATP-binding domain. Functional analysis in zebrafish embryos indicated that the discovered allele is likely a hypomorph. Both brothers had impaired intellectual development and progressive spasticity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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DDX3X, ARG376HIS
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<br />
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|
|
SNP: rs2063908570,
|
|
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|
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|
|
ClinVar: RCV001093534
|
|
|
|
|
|
</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 9-year-old boy (patient 1; Decipher ID: 301323) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Nicola et al. (2019) identified a hemizygous c.1127G-A transition (c.1127G-A, NM_001356.4) in the DDX3X gene, resulting in an arg376-to-his (R376H) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was absent in the parents, suggesting a de novo mutation. A de novo mutation at the same codon (R376C; 300160.0001) was reported by Snijders Blok et al. (2015) in females with MRXSSB. </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>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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DDX3X, VAL496MET
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<br />
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|
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SNP: rs1555954154,
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ClinVar: RCV000660645
|
|
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|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an 8-year-old boy (patient 2) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Nicola et al. (2019) identified a de novo hemizygous c.1486G-A transition (c.1486G-A, NM_001356.4) in the DDX3X gene, resulting in a val496-to-met (V496M) substitution at a highly conserved reside in the helicase C-terminal domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. The patient had impaired intellectual development, cardiac defects, cataracts, and mild conductive hearing loss. </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>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
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|
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|
DDX3X, GLY504GLU
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|
<br />
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|
|
SNP: rs2063927503,
|
|
|
|
|
|
|
|
ClinVar: RCV001093535
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old girl (patient 1) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Scala et al. (2019) identified a heterozygous c.1511G-A transition (c.1511G-A, NM_001356.3) in the DDX3X gene, resulting in a gly504-to-glu (G504E) substitution. The mutation, which was found by whole-exome sequencing, was confirmed by Sanger sequencing. The patient had a history of global developmental delay, absent speech, spastic tetraparesis, and severe scoliosis. She was incidentally diagnosed with a cerebellar pilocytic astrocytoma at age 8. The authors noted that DDX3X plays a crucial role in cell cycle progression and is involved in the Wnt/Beta-catenin signalling pathway and has been reported in Wnt-driven medulloblastoma. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDX3X, 4-BP DEL/INS, NT1436
|
|
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|
|
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<br />
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|
|
SNP: rs2063923605,
|
|
|
|
|
|
|
|
ClinVar: RCV001093536
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old girl (patient 2) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Scala et al. (2019) identified a heterozygous del/ins mutation (c.1436_1439delinsTCTC, NM_001356.3) in the DDX3X gene, resulting in an Asp479Arg480delinsValSer protein change. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDX3X, 3-BP DEL, 641TCA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2063876114,
|
|
|
|
|
|
|
|
ClinVar: RCV001093537
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old girl (patient 3) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Scala et al. (2019) identified a heterozygous 3-bp deletion (c.641_643delTCA, NM_001356.3) in the DDX3X gene, resulting in deletion of an isoleucine residue (Ile214del). The patient had impaired intellectual development, microcephaly, hypotonia, and hand stereotypies. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDX3X, 4-BP DEL, NT828
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1602131859,
|
|
|
|
|
|
|
|
ClinVar: RCV001093538
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters (patients 4 and 5) with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Beal et al. (2019) identified a de novo heterozygous 4-bp deletion (c.828-831del, NM_001356.4) in the DDX3X gene, resulting in a frameshift and a premature termination codon (Arg276SerfsTer44). Parental testing for the mutation was negative, suggesting germline mosaicism. Although both girls had impaired intellectual development, the older sister was more severely affected. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDX3X, 2-BP DEL, NT1535
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs796052230,
|
|
|
|
|
|
|
|
ClinVar: RCV000190107, RCV001093539, RCV001256979, RCV002287388, RCV002317665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By exome sequencing in a 10-year-old girl with Snijders Blok-type X-linked syndromic intellectual developmental disorder (MRXSSB; 300958), Chanes et al. (2019) identified a de novo heterozygous 2-bp deletion (c.1535_1536del) in the DDX3X gene, resulting in a frameshift and a premature termination codon (His512ArgfsTer5). The patient, who was born prematurely at 25 weeks' gestation, had impaired intellectual development, behavioral problems, and minor dysmorphic features. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beal, B., Hayes, I., McGaughran, J., Amor, D. J., Miteff, C., Jackson, V., van Reyk, O., Subramanian, G., Hildebrand, M. S., Morgan, A. T., Goel, H.
|
|
<strong>Expansion of phenotype of DDX3X syndrome: six new cases.</strong>
|
|
Clin. Dysmorph. 28: 169-174, 2019.
|
|
|
|
|
|
[PubMed: 31274575]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000289]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chanes, N. M., Wong, J., Lacassie, Y.
|
|
<strong>Further delineation of DDX3X syndrome.</strong>
|
|
Clin. Dysmorph. 28: 149-151, 2019.
|
|
|
|
|
|
[PubMed: 30817323]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000263]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cheng, W., Wang, S., Zhang, Z., Morgens, D. W., Hayes, L. R., Lee, S., Portz, B., Xie, Y., Nguyen, B. V., Haney, M. S., Yan, S., Dong, D., and 10 others.
|
|
<strong>CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated non-AUG translation.</strong>
|
|
Neuron 104: 885-898, 2019.
|
|
|
|
|
|
[PubMed: 31587919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.neuron.2019.09.003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chung, J., Lee, S.-G., Song, K.
|
|
<strong>Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells.</strong>
|
|
Korean J. Biochem. 27: 193-197, 1995.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cruciat, C.- M., Dolde, C., de Groot, R. E. A., Ohkawara, B., Reinhard, C., Korswagen, H. C., Niehrs, C.
|
|
<strong>RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-beta-catenin signaling.</strong>
|
|
Science 339: 1436-1441, 2013.
|
|
|
|
|
|
[PubMed: 23413191]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1231499]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deciphering Developmental Disorders Study.
|
|
<strong>Large-scale discovery of novel genetic causes of developmental disorders.</strong>
|
|
Nature 519: 223-228, 2015.
|
|
|
|
|
|
[PubMed: 25533962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature14135]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guenther, U.-P., Weinberg, D. E., Zubradt, M. M., Tedeschi, F. A., Stawicki, B. N., Zagore, L. L., Brar, G. A., Licatalosi, D. D., Bartel, D. P., Weissman, J. S., Jankowsky, E.
|
|
<strong>The helicase Ded1p controls use of near-cognate translation initiation codons in 5-prime UTRs.</strong>
|
|
Nature 559: 130-134, 2018.
|
|
|
|
|
|
[PubMed: 29950728]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41586-018-0258-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Han, S., Sun, S., Li, P., Liu, Q., Zhang, Z., Dong, H., Sun, M., Wu, W., Wang, X., Guo, H.
|
|
<strong>Ribosomal protein L13 promotes IRES-driven translation of foot-and-mouth disease virus in a helicase DDX3-dependent manner.</strong>
|
|
J. Virol. 94: e01679-19, 2020. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 31619563]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/JVI.01679-19]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kellaris, G., Khan, K., Baig, S. M., Tsai, I.-C., Zamora, F. M., Ruggieri, P., Natowicz, M. R., Katsanis, N.
|
|
<strong>A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.</strong>
|
|
Hum. Genomics 12: 11, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 29490693]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/s40246-018-0141-y]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lahn, B. T., Page, D. C.
|
|
<strong>Functional coherence of the human Y chromosome.</strong>
|
|
Science 278: 675-680, 1997.
|
|
|
|
|
|
[PubMed: 9381176]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.278.5338.675]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nicola, P., Blackburn, P. R., Rasmussen, K. J., Bertsch, N. L., Klee, E. W., Hasadsri, L., Pichurin, P. N., Rankin, J., Raymond, F. L., DDD Study, Clayton-Smith, J.
|
|
<strong>De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.</strong>
|
|
Am. J. Med. Genet. 179A: 570-578, 2019.
|
|
|
|
|
|
[PubMed: 30734472]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61061]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Park, S. H., Lee, S.-G., Kim, Y., Song, K.
|
|
<strong>Assignment of a human putative RNA helicase gene, DDX3, to human X chromosome bands p11.3-p11.23.</strong>
|
|
Cytogenet. Cell Genet. 81: 178-179, 1998.
|
|
|
|
|
|
[PubMed: 9730595]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000015022]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Samir, P., Kesavardhana, S., Patmore, D. M., Gingras, S., Malireddi, R. K. S., Karki, R., Guy, C. S., Briard, B., Place, D. E., Bhattacharya, A., Sharma, B. R., Nourse, A., King, S. V., Pitre, A., Burton, A. R., Pelletier, S., Gilbertson, R. J., Kanneganti, T. D.
|
|
<strong>DDX3X acts as a live-or-die checkpoint in stressed cells by regulating NLRP3 inflammasome.</strong>
|
|
Nature 573: 590-594, 2019.
|
|
|
|
|
|
[PubMed: 31511697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41586-019-1551-2]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scala, M., Torella, A., Severino, M., Morana, G., Castello, R., Accogli, A., Verrico, A., Vari, M. S., Cappuccio, G., Pinelli, M., Vitiello, G., Terrone, G., D'Amico, A., TUDP Consortium, Nigro, V., Capra, V.
|
|
<strong>Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.</strong>
|
|
Europ. J. Hum. Genet. 27: 1254-1259, 2019.
|
|
|
|
|
|
[PubMed: 30936465]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41431-019-0392-7]
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</p>
|
|
</li>
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Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., and 74 others.
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<strong>Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.</strong>
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Am. J. Hum. Genet. 97: 343-352, 2015.
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[PubMed: 26235985]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.07.004]
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Yedavalli, V. S. R. K., Neuveut, C., Chi, Y., Kleiman, L., Jeang, K.-T.
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<strong>Requirement of DDX3 DEAD box RNA helicase for HIV-1 Rev-RRE export function.</strong>
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Cell 119: 381-392, 2004.
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[PubMed: 15507209]
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[Full Text: https://doi.org/10.1016/j.cell.2004.09.029]
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Bao Lige - updated : 02/01/2022<br>Bao Lige - updated : 05/21/2020<br>Ada Hamosh - updated : 05/11/2020<br>Kelly A. Przylepa - updated : 05/07/2020<br>Ada Hamosh - updated : 09/06/2018<br>Cassandra L. Kniffin - updated : 9/1/2015<br>Ada Hamosh - updated : 5/29/2013<br>Stylianos E. Antonarakis - updated : 1/19/2005
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Rebekah S. Rasooly : 11/19/1998
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