3327 lines
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Entry
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- *608329 - MYELIN REGULATORY FACTOR; MYRF
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- OMIM
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<p>
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<span class="h4">*608329</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608329">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-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=ENSG00000124920;t=ENST00000278836" 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=745" 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=608329" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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<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=ENSG00000124920;t=ENST00000278836" 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_001127392,NM_013279,XM_005274222,XM_005274223,XM_005274224,XM_005274225,XM_005274226,XM_005274227,XM_005274228,XM_011545234,XM_024448677,XM_047427526,XM_047427527,XM_047427528,XM_047427529,XM_047427530,XM_047427531,XM_047427532,XM_047427533,XM_047427534,XM_047427535,XM_047427536,XM_047427537,XM_047427538" 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_001127392" 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=608329" 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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<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=12213&isoform_id=12213_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/MYRF" 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/2724128,3169156,6808502,7019335,108250270,119594369,119594370,119594371,119594372,119594373,119594374,182637560,188528652,194379044,530397243,530397245,530397247,530397249,530397251,530397253,530397255,767968701,929654332,1370460110,2217284467,2217284470,2217284472,2217284474,2217284476,2217284478,2217284480,2217284482,2217284484,2217284486,2217284489,2217284491,2217284493,2462527336,2462527338,2462527340,2462527342,2462527344,2462527346,2462527348,2462527350,2462527352,2462527354,2462527356,2462527358,2462527360,2462527362,2462527364,2462527366,2462527368,2462527370,2462527372,2462527374,2462527376,2462527378" 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/Q9Y2G1" 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 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=745" 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=ENSG00000124920;t=ENST00000278836" 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=MYRF" 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=MYRF" 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+745" 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/MYRF" 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:745" 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/745" 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=chr11&hgg_gene=ENST00000278836.10&hgg_start=61752636&hgg_end=61788518&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608329[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=608329[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/MYRF/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/ENSG00000124920" 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=MYRF" 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=MYRF" 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=MYRF" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYRF&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/PA25500" 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:1181" 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/FBgn0034985.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2684944" 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/MYRF#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2684944" 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/745/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002752/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=745" 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=WBGene00004134;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004134 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008999;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008999 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-080204-57" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=MYRF&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1332387008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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608329
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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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MYELIN REGULATORY FACTOR; MYRF
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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MRF<br />
|
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CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9<br />
|
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KIAA0954
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MYRF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYRF</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/11/460?start=-3&limit=10&highlight=460">11q12.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:61752636-61788518&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'})">11:61,752,636-61,788,518</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=618280,618113" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/460?start=-3&limit=10&highlight=460">
|
|
11q12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiac-urogenital syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618280"> 618280 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
|
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|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618113"> 618113 </a>
|
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|
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<p>The MYRF gene encodes a transcription factor that acts as a myelin regulatory factor necessary for oligodendrocyte differentiation and the maintenance of mature oligodendrocytes and myelin structure (summary by <a href="#4" class="mim-tip-reference" title="Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A. <strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong> Ann. Neurol. 83: 98-106, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29265453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29265453</a>] [<a href="https://doi.org/10.1002/ana.25125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29265453">Kurahashi et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29265453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#5" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 63-70, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>] [<a href="https://doi.org/10.1093/dnares/6.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10231032">Nagase et al. (1999)</a> cloned KIAA0954. RT-PCR ELISA detected moderate expression in brain, lung, ovary, and spinal cord, and in all specific brain regions examined except cerebellum. Low expression was detected in liver and pancreas, and little to no expression was found in heart, skeletal muscle, kidney, spleen, and testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" 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 the course of constructing a transcript map of the region encompassing the BEST1 gene (<a href="/entry/607854">607854</a>), <a href="#8" class="mim-tip-reference" title="Stohr, H., Marquardt, A., White, K., Weber, B. H. F. <strong>cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-q13.1 which encodes a highly conserved, potential membrane-associated protein.</strong> Cytogenet. Cell Genet. 88: 211-216, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828591</a>] [<a href="https://doi.org/10.1159/000015552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828591">Stohr et al. (2000)</a> identified C11ORF9. Using EST mapping, computational exon prediction, RT-PCR, and 5-prime RACE, they cloned the full-length cDNA from an eye tissue-specific cDNA library. The deduced 1,111-amino acid protein has a calculated molecular mass of 120 kD. The N-terminal half contains 2 proline-rich sequences, and the C-terminal half contains 2 transmembrane helices. Northern blot analysis detected a 5.7-kb transcript in lung and retinal pigment epithelial tissue and in a retinal pigment epithelial cell line. Minor expression was detected in cerebellum and retina. In addition, RT-PCR detected expression in brainstem, uterus, basal ganglion, and liver; no expression was detected in lymphocytes or heart. Examination of EST databases revealed widespread expression and tissue-specific abundance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Stohr, H., Marquardt, A., White, K., Weber, B. H. F. <strong>cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-q13.1 which encodes a highly conserved, potential membrane-associated protein.</strong> Cytogenet. Cell Genet. 88: 211-216, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828591</a>] [<a href="https://doi.org/10.1159/000015552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828591">Stohr et al. (2000)</a> determined that the C11ORF9 gene contains 26 exons and spans 33.1 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#8" class="mim-tip-reference" title="Stohr, H., Marquardt, A., White, K., Weber, B. H. F. <strong>cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-q13.1 which encodes a highly conserved, potential membrane-associated protein.</strong> Cytogenet. Cell Genet. 88: 211-216, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828591</a>] [<a href="https://doi.org/10.1159/000015552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828591">Stohr et al. (2000)</a> mapped the C11ORF9 gene to chromosome 11q12-q13.1, where it lies 4.3 kb centromeric to the FEN1 gene (<a href="/entry/600393">600393</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828591" 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><strong><em>Mild Encephalitis/Encephalopathy With Reversible Myelin Vacuolization</em></strong></p><p>
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In 9 patients from 2 unrelated Japanese families with mild encephalitis/encephalopathy with reversible myelin vacuolization (MMERV; <a href="/entry/618113">618113</a>), <a href="#4" class="mim-tip-reference" title="Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A. <strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong> Ann. Neurol. 83: 98-106, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29265453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29265453</a>] [<a href="https://doi.org/10.1002/ana.25125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29265453">Kurahashi et al. (2018)</a> identified a heterozygous missense mutation in the MYRF gene (Q403R; <a href="#0001">608329.0001</a>). The mutation, which was found by whole-exome sequencing in the first family and confirmed by Sanger sequencing in both families, segregated with the disorder in both families. Haplotype analysis suggested a founder effect. In vitro functional expression studies using a luciferase reporter showed that the mutation resulted in significantly decreased transcriptional activity. Since all patients had normal psychomotor development even after recurrent episodes, <a href="#4" class="mim-tip-reference" title="Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A. <strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong> Ann. Neurol. 83: 98-106, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29265453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29265453</a>] [<a href="https://doi.org/10.1002/ana.25125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29265453">Kurahashi et al. (2018)</a> suggested that the function of the MYRF variant is relatively preserved under normal circumstances, but is insufficient during increased physiologic demands, such as infection. Direct sequencing of the MYRF gene in 33 individuals with sporadic MMERV did not identify any pathogenic variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29265453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cardiac-Urogenital Syndrome</em></strong></p><p>
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In 2 unrelated boys with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#6" class="mim-tip-reference" title="Pinz, H., Pyle, L. C., Li, D., Izumi, K., Skraban, C., Tarpinian, J., Braddock, S. R., Telegrafi, A., Monaghan, K. G., Zackai, E., Bhoj, E. J. <strong>De novo variants in myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.</strong> Am. J. Med. Genet. 176A: 969-972, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446546</a>] [<a href="https://doi.org/10.1002/ajmg.a.38620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29446546">Pinz et al. (2018)</a> identified heterozygosity for de novo mutations in the MYRF gene, a splice site variant (<a href="#0002">608329.0002</a>) and a nonsense mutation (R840X; <a href="#0003">608329.0003</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29446546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male fetus with complex congenital heart disease and severe urogenital malformations, <a href="#1" class="mim-tip-reference" title="Chitayat, D., Shannon, P., Uster, T., Nezarati, M. M., Schnur, R. E., Bhoj, E. J. <strong>An additional individual with a de novo variant in myelin regulatory factor (MYRF) with cardiac and urogenital anomalies: further proof of causality: comments on the article by Pinz et al. (2018).</strong> Am. J. Med. Genet. 176A: 2041-2043, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30070761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30070761</a>] [<a href="https://doi.org/10.1002/ajmg.a.40360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30070761">Chitayat et al. (2018)</a> identified heterozygosity for a de novo frameshift variant in the MYRF gene (<a href="#0004">608329.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30070761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Qi, H., Yu, L., Zhou, X., Wynn, J., Zhao, H., Guo, Y., Zhu, N., Kitaygorodsky, A., Hernan, R., Aspelund, G., Lim, F.-Y., Crombleholme, T., and 17 others. <strong>De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.</strong> PLoS Genet. 14: e1007822, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30532227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30532227</a>] [<a href="https://doi.org/10.1371/journal.pgen.1007822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30532227">Qi et al. (2018)</a> reported 7 patients from 6 families with CUGS who had heterozygous mutations in the MYRF gene (see, e.g., <a href="#0005">608329.0005</a> and <a href="#0006">608329.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30532227" 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="#3" class="mim-tip-reference" title="Koenning, M., Jackson, S., Hay, C. M., Faux, C., Kilpatrick, T. J., Willingham, M., Emery, B. <strong>Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.</strong> J. Neurosci. 32: 12528-12542, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22956843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22956843</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.1069-12.2012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22956843">Koenning et al. (2012)</a> found that genetic ablation of the Mrf gene in mature oligodendrocytes in adult mice resulted in a delayed and severe demyelination. The mice had impaired motor skill learning. The demyelination was accompanied by microglial/macrophage infiltration, axonal damage, and decreased expression of myelin genes. However, over time, there was some evidence of remyelination. The findings demonstrated that ongoing expression of Mrf within the adult central nervous system is critical to maintain mature oligodendrocyte identity and the integrity of myelin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22956843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>6 Selected Examples</a>):</strong>
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<a href="/allelicVariants/608329" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608329[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION</strong>
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MYRF, GLN403ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565295286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565295286;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=rs1565295286" 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=rs1565295286" 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=RCV000679810" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000679810" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000679810</a>
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<p>In 9 affected individuals from 2 unrelated Japanese families, one of which (family B) was previously reported by <a href="#2" class="mim-tip-reference" title="Imamura, T., Takanashi, J., Yasugi, J., Terada, H., Nishimura, A. <strong>Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; familial MERS?</strong> J. Neurol. Sci. 290: 153-156, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20042198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20042198</a>] [<a href="https://doi.org/10.1016/j.jns.2009.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20042198">Imamura et al. (2010)</a>, with mild encephalitis/encephalopathy with reversible myelin vacuolization (MMERV; <a href="/entry/618113">618113</a>), <a href="#4" class="mim-tip-reference" title="Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A. <strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong> Ann. Neurol. 83: 98-106, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29265453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29265453</a>] [<a href="https://doi.org/10.1002/ana.25125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29265453">Kurahashi et al. (2018)</a> identified a heterozygous c.1208A-G transition (c.1208A-G, NM_001127392) in the MYRF gene, resulting in a gln403-to-arg (Q403R) substitution at a highly conserved residue in the DNA-binding domain. The mutation, which was found by whole-exome sequencing in the first family and confirmed by Sanger sequencing in both families, segregated with the disorder in both families. The variant was not found in the Exome Sequencing Project, 1000 Genomes Project, or ExAC databases, or among a cohort of Japanese control individuals. Haplotype analysis suggested a founder effect. In vitro functional expression studies using a luciferase reporter showed that the mutation resulted in significantly decreased transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29265453+20042198" 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>.0002 CARDIAC-UROGENITAL SYNDROME</strong>
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MYRF, IVS, G-A, 2336+1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1057518279 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057518279;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=rs1057518279" 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=rs1057518279" 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=RCV000413370 OR RCV000736002" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000413370, RCV000736002" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000413370...</a>
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<p>In a 3-year-old boy with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#6" class="mim-tip-reference" title="Pinz, H., Pyle, L. C., Li, D., Izumi, K., Skraban, C., Tarpinian, J., Braddock, S. R., Telegrafi, A., Monaghan, K. G., Zackai, E., Bhoj, E. J. <strong>De novo variants in myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.</strong> Am. J. Med. Genet. 176A: 969-972, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446546</a>] [<a href="https://doi.org/10.1002/ajmg.a.38620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29446546">Pinz et al. (2018)</a> identified heterozygosity for a de novo splice site mutation (c.2336+1G-A, NM_001127392.2) within the transmembrane domain of the MYRF gene. The mutation was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29446546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 CARDIAC-UROGENITAL SYNDROME</strong>
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<span class="mim-text-font">
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MYRF, ARG840TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565304230 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565304230;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=rs1565304230" 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=rs1565304230" 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=RCV000736003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000736003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000736003</a>
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</div>
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<span class="mim-text-font">
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<p>In a male infant who died at 10 days of life with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#6" class="mim-tip-reference" title="Pinz, H., Pyle, L. C., Li, D., Izumi, K., Skraban, C., Tarpinian, J., Braddock, S. R., Telegrafi, A., Monaghan, K. G., Zackai, E., Bhoj, E. J. <strong>De novo variants in myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.</strong> Am. J. Med. Genet. 176A: 969-972, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446546</a>] [<a href="https://doi.org/10.1002/ajmg.a.38620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29446546">Pinz et al. (2018)</a> identified heterozygosity for a de novo c.2518C-T transition (c.2518C-T, NM_001127392.2) in the MYRF gene, resulting in an arg840-to-ter (R840X) substitution. The mutation was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29446546" 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 CARDIAC-UROGENITAL SYNDROME</strong>
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MYRF, 2-BP DUP, 1254GA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565295395 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565295395;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=rs1565295395" 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=rs1565295395" 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=RCV000736004" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000736004" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000736004</a>
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<p>In a male fetus with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#1" class="mim-tip-reference" title="Chitayat, D., Shannon, P., Uster, T., Nezarati, M. M., Schnur, R. E., Bhoj, E. J. <strong>An additional individual with a de novo variant in myelin regulatory factor (MYRF) with cardiac and urogenital anomalies: further proof of causality: comments on the article by Pinz et al. (2018).</strong> Am. J. Med. Genet. 176A: 2041-2043, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30070761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30070761</a>] [<a href="https://doi.org/10.1002/ajmg.a.40360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30070761">Chitayat et al. (2018)</a> identified heterozygosity for a de novo 2-bp duplication (c.1254_1255dupGA, NM_001127392.2) in the MYRF gene, causing a frameshift predicted to result in a premature termination codon (Thr419ArgfsTer14). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30070761" 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 CARDIAC-UROGENITAL SYNDROME</strong>
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MYRF, GLY435ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565295550 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565295550;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=rs1565295550" 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=rs1565295550" 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=RCV000758213 OR RCV001291520" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758213, RCV001291520" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758213...</a>
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<p>In a 46,XX patient (01-0429) with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#7" class="mim-tip-reference" title="Qi, H., Yu, L., Zhou, X., Wynn, J., Zhao, H., Guo, Y., Zhu, N., Kitaygorodsky, A., Hernan, R., Aspelund, G., Lim, F.-Y., Crombleholme, T., and 17 others. <strong>De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.</strong> PLoS Genet. 14: e1007822, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30532227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30532227</a>] [<a href="https://doi.org/10.1371/journal.pgen.1007822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30532227">Qi et al. (2018)</a> identified heterozygosity for a c.1303G-A transition (c.1303G-A, NM_001127392.2) in the MYRF gene, predicted to result in a gly435-to-arg (G435R) substitution at a highly conserved residue within the DBD domain. The mutation was not found in the ExAC or gnomAD databases. In addition to ventricular septal defect and blind-ending vagina with absence of internal genital organs, the patient had a congenital left diaphragmatic hernia and accessory spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30532227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1382225004 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1382225004;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/rs1382225004?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=rs1382225004" 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=rs1382225004" 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=RCV000758214 OR RCV001291136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758214, RCV001291136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758214...</a>
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<p>In a 46,XY patient (05-0050) with cardiac-urogenital syndrome (CUGS; <a href="/entry/618280">618280</a>), <a href="#7" class="mim-tip-reference" title="Qi, H., Yu, L., Zhou, X., Wynn, J., Zhao, H., Guo, Y., Zhu, N., Kitaygorodsky, A., Hernan, R., Aspelund, G., Lim, F.-Y., Crombleholme, T., and 17 others. <strong>De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.</strong> PLoS Genet. 14: e1007822, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30532227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30532227</a>] [<a href="https://doi.org/10.1371/journal.pgen.1007822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30532227">Qi et al. (2018)</a> identified heterozygosity for a c.2084G-A transition (c.2084G-A, NM_001127392.2) in the MYRF gene, predicted to result in an arg695-to-his (R695H) substitution at a conserved residue within the ICA domain. The mutation was not found in the ExAC or gnomAD databases. In addition to hypoplastic left heart syndrome, ambiguous genitalia, and undescended testes, the patient had congenital diaphragmatic hernia and intellectual disability with motor delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30532227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Chitayat2018" class="mim-anchor"></a>
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Chitayat, D., Shannon, P., Uster, T., Nezarati, M. M., Schnur, R. E., Bhoj, E. J.
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<strong>An additional individual with a de novo variant in myelin regulatory factor (MYRF) with cardiac and urogenital anomalies: further proof of causality: comments on the article by Pinz et al. (2018).</strong>
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Am. J. Med. Genet. 176A: 2041-2043, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30070761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30070761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30070761" 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.40360" target="_blank">Full Text</a>]
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Imamura, T., Takanashi, J., Yasugi, J., Terada, H., Nishimura, A.
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<strong>Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; familial MERS?</strong>
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J. Neurol. Sci. 290: 153-156, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20042198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20042198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20042198" 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.jns.2009.12.004" target="_blank">Full Text</a>]
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Koenning, M., Jackson, S., Hay, C. M., Faux, C., Kilpatrick, T. J., Willingham, M., Emery, B.
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<strong>Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.</strong>
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J. Neurosci. 32: 12528-12542, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22956843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22956843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22956843" 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/10.1523/JNEUROSCI.1069-12.2012" target="_blank">Full Text</a>]
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<a id="Kurahashi2018" class="mim-anchor"></a>
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Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A.
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<strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong>
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Ann. Neurol. 83: 98-106, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29265453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29265453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29265453" 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/ana.25125" target="_blank">Full Text</a>]
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<a id="Nagase1999" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 63-70, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10231032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10231032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10231032" 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/10.1093/dnares/6.1.63" target="_blank">Full Text</a>]
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Pinz, H., Pyle, L. C., Li, D., Izumi, K., Skraban, C., Tarpinian, J., Braddock, S. R., Telegrafi, A., Monaghan, K. G., Zackai, E., Bhoj, E. J.
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<strong>De novo variants in myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.</strong>
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Am. J. Med. Genet. 176A: 969-972, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29446546" 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.38620" target="_blank">Full Text</a>]
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Qi, H., Yu, L., Zhou, X., Wynn, J., Zhao, H., Guo, Y., Zhu, N., Kitaygorodsky, A., Hernan, R., Aspelund, G., Lim, F.-Y., Crombleholme, T., and 17 others.
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<strong>De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.</strong>
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PLoS Genet. 14: e1007822, 2018. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30532227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30532227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30532227" 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/10.1371/journal.pgen.1007822" target="_blank">Full Text</a>]
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Stohr, H., Marquardt, A., White, K., Weber, B. H. F.
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<strong>cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-q13.1 which encodes a highly conserved, potential membrane-associated protein.</strong>
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Cytogenet. Cell Genet. 88: 211-216, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 03/05/2019
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Marla J. F. O'Neill - updated : 01/11/2019<br>Cassandra L. Kniffin - updated : 09/10/2018
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Patricia A. Hartz : 12/8/2003
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carol : 03/05/2019<br>alopez : 01/11/2019<br>carol : 09/11/2018<br>ckniffin : 09/10/2018<br>carol : 08/09/2017<br>wwang : 10/12/2006<br>terry : 3/3/2005<br>mgross : 12/8/2003
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MYELIN REGULATORY FACTOR; MYRF
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MRF<br />
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CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9<br />
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<strong><em>HGNC Approved Gene Symbol: MYRF</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1332387008;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q12.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:61,752,636-61,788,518 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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11q12.2
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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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Cardiac-urogenital syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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618280
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
618113
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The MYRF gene encodes a transcription factor that acts as a myelin regulatory factor necessary for oligodendrocyte differentiation and the maintenance of mature oligodendrocytes and myelin structure (summary by Kurahashi et al., 2018). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1999) cloned KIAA0954. RT-PCR ELISA detected moderate expression in brain, lung, ovary, and spinal cord, and in all specific brain regions examined except cerebellum. Low expression was detected in liver and pancreas, and little to no expression was found in heart, skeletal muscle, kidney, spleen, and testis. </p><p>In the course of constructing a transcript map of the region encompassing the BEST1 gene (607854), Stohr et al. (2000) identified C11ORF9. Using EST mapping, computational exon prediction, RT-PCR, and 5-prime RACE, they cloned the full-length cDNA from an eye tissue-specific cDNA library. The deduced 1,111-amino acid protein has a calculated molecular mass of 120 kD. The N-terminal half contains 2 proline-rich sequences, and the C-terminal half contains 2 transmembrane helices. Northern blot analysis detected a 5.7-kb transcript in lung and retinal pigment epithelial tissue and in a retinal pigment epithelial cell line. Minor expression was detected in cerebellum and retina. In addition, RT-PCR detected expression in brainstem, uterus, basal ganglion, and liver; no expression was detected in lymphocytes or heart. Examination of EST databases revealed widespread expression and tissue-specific abundance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Stohr et al. (2000) determined that the C11ORF9 gene contains 26 exons and spans 33.1 kb. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
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<p>By genomic sequence analysis, Stohr et al. (2000) mapped the C11ORF9 gene to chromosome 11q12-q13.1, where it lies 4.3 kb centromeric to the FEN1 gene (600393). </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p><strong><em>Mild Encephalitis/Encephalopathy With Reversible Myelin Vacuolization</em></strong></p><p>
|
|
In 9 patients from 2 unrelated Japanese families with mild encephalitis/encephalopathy with reversible myelin vacuolization (MMERV; 618113), Kurahashi et al. (2018) identified a heterozygous missense mutation in the MYRF gene (Q403R; 608329.0001). The mutation, which was found by whole-exome sequencing in the first family and confirmed by Sanger sequencing in both families, segregated with the disorder in both families. Haplotype analysis suggested a founder effect. In vitro functional expression studies using a luciferase reporter showed that the mutation resulted in significantly decreased transcriptional activity. Since all patients had normal psychomotor development even after recurrent episodes, Kurahashi et al. (2018) suggested that the function of the MYRF variant is relatively preserved under normal circumstances, but is insufficient during increased physiologic demands, such as infection. Direct sequencing of the MYRF gene in 33 individuals with sporadic MMERV did not identify any pathogenic variants. </p><p><strong><em>Cardiac-Urogenital Syndrome</em></strong></p><p>
|
|
In 2 unrelated boys with cardiac-urogenital syndrome (CUGS; 618280), Pinz et al. (2018) identified heterozygosity for de novo mutations in the MYRF gene, a splice site variant (608329.0002) and a nonsense mutation (R840X; 608329.0003), respectively. </p><p>In a male fetus with complex congenital heart disease and severe urogenital malformations, Chitayat et al. (2018) identified heterozygosity for a de novo frameshift variant in the MYRF gene (608329.0004). </p><p>Qi et al. (2018) reported 7 patients from 6 families with CUGS who had heterozygous mutations in the MYRF gene (see, e.g., 608329.0005 and 608329.0006). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Koenning et al. (2012) found that genetic ablation of the Mrf gene in mature oligodendrocytes in adult mice resulted in a delayed and severe demyelination. The mice had impaired motor skill learning. The demyelination was accompanied by microglial/macrophage infiltration, axonal damage, and decreased expression of myelin genes. However, over time, there was some evidence of remyelination. The findings demonstrated that ongoing expression of Mrf within the adult central nervous system is critical to maintain mature oligodendrocyte identity and the integrity of myelin. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYRF, GLN403ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1565295286,
|
|
|
|
|
|
|
|
ClinVar: RCV000679810
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 affected individuals from 2 unrelated Japanese families, one of which (family B) was previously reported by Imamura et al. (2010), with mild encephalitis/encephalopathy with reversible myelin vacuolization (MMERV; 618113), Kurahashi et al. (2018) identified a heterozygous c.1208A-G transition (c.1208A-G, NM_001127392) in the MYRF gene, resulting in a gln403-to-arg (Q403R) substitution at a highly conserved residue in the DNA-binding domain. The mutation, which was found by whole-exome sequencing in the first family and confirmed by Sanger sequencing in both families, segregated with the disorder in both families. The variant was not found in the Exome Sequencing Project, 1000 Genomes Project, or ExAC databases, or among a cohort of Japanese control individuals. Haplotype analysis suggested a founder effect. In vitro functional expression studies using a luciferase reporter showed that the mutation resulted in significantly decreased transcriptional activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CARDIAC-UROGENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYRF, IVS, G-A, 2336+1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057518279,
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|
|
|
|
|
|
|
ClinVar: RCV000413370, RCV000736002
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old boy with cardiac-urogenital syndrome (CUGS; 618280), Pinz et al. (2018) identified heterozygosity for a de novo splice site mutation (c.2336+1G-A, NM_001127392.2) within the transmembrane domain of the MYRF gene. The mutation was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
|
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CARDIAC-UROGENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYRF, ARG840TER
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<br />
|
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|
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SNP: rs1565304230,
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ClinVar: RCV000736003
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</span>
|
|
</div>
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant who died at 10 days of life with cardiac-urogenital syndrome (CUGS; 618280), Pinz et al. (2018) identified heterozygosity for a de novo c.2518C-T transition (c.2518C-T, NM_001127392.2) in the MYRF gene, resulting in an arg840-to-ter (R840X) substitution. The mutation was not found in the gnomAD database. </p>
|
|
</span>
|
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</div>
|
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 CARDIAC-UROGENITAL SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
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MYRF, 2-BP DUP, 1254GA
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<br />
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|
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SNP: rs1565295395,
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ClinVar: RCV000736004
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</span>
|
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</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male fetus with cardiac-urogenital syndrome (CUGS; 618280), Chitayat et al. (2018) identified heterozygosity for a de novo 2-bp duplication (c.1254_1255dupGA, NM_001127392.2) in the MYRF gene, causing a frameshift predicted to result in a premature termination codon (Thr419ArgfsTer14). </p>
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|
</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARDIAC-UROGENITAL SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
|
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<div>
|
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<span class="mim-text-font">
|
|
|
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MYRF, GLY435ARG
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<br />
|
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|
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SNP: rs1565295550,
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ClinVar: RCV000758213, RCV001291520
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|
|
|
|
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 46,XX patient (01-0429) with cardiac-urogenital syndrome (CUGS; 618280), Qi et al. (2018) identified heterozygosity for a c.1303G-A transition (c.1303G-A, NM_001127392.2) in the MYRF gene, predicted to result in a gly435-to-arg (G435R) substitution at a highly conserved residue within the DBD domain. The mutation was not found in the ExAC or gnomAD databases. In addition to ventricular septal defect and blind-ending vagina with absence of internal genital organs, the patient had a congenital left diaphragmatic hernia and accessory spleen. </p>
|
|
</span>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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|
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</div>
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<div>
|
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|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 CARDIAC-UROGENITAL SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
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MYRF, ARG695HIS
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<br />
|
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|
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SNP: rs1382225004,
|
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|
|
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gnomAD: rs1382225004,
|
|
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|
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ClinVar: RCV000758214, RCV001291136
|
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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 a 46,XY patient (05-0050) with cardiac-urogenital syndrome (CUGS; 618280), Qi et al. (2018) identified heterozygosity for a c.2084G-A transition (c.2084G-A, NM_001127392.2) in the MYRF gene, predicted to result in an arg695-to-his (R695H) substitution at a conserved residue within the ICA domain. The mutation was not found in the ExAC or gnomAD databases. In addition to hypoplastic left heart syndrome, ambiguous genitalia, and undescended testes, the patient had congenital diaphragmatic hernia and intellectual disability with motor delay. </p>
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chitayat, D., Shannon, P., Uster, T., Nezarati, M. M., Schnur, R. E., Bhoj, E. J.
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<strong>An additional individual with a de novo variant in myelin regulatory factor (MYRF) with cardiac and urogenital anomalies: further proof of causality: comments on the article by Pinz et al. (2018).</strong>
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Am. J. Med. Genet. 176A: 2041-2043, 2018.
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[PubMed: 30070761]
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[Full Text: https://doi.org/10.1002/ajmg.a.40360]
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Imamura, T., Takanashi, J., Yasugi, J., Terada, H., Nishimura, A.
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<strong>Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; familial MERS?</strong>
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J. Neurol. Sci. 290: 153-156, 2010.
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[PubMed: 20042198]
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[Full Text: https://doi.org/10.1016/j.jns.2009.12.004]
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Koenning, M., Jackson, S., Hay, C. M., Faux, C., Kilpatrick, T. J., Willingham, M., Emery, B.
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<strong>Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.</strong>
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J. Neurosci. 32: 12528-12542, 2012.
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[PubMed: 22956843]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.1069-12.2012]
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Kurahashi, H., Azuma, Y., Masuda, A., Okuno, T., Nakahara, E., Imamura, T., Saitoh, M., Mizuguchi, M., Shimizu, T., Ohno, K., Okumura, A.
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<strong>MYRF is associated with encephalopathy with reversible myelin vacuolization.</strong>
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Ann. Neurol. 83: 98-106, 2018.
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[PubMed: 29265453]
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[Full Text: https://doi.org/10.1002/ana.25125]
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<li>
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Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 63-70, 1999.
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[PubMed: 10231032]
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[Full Text: https://doi.org/10.1093/dnares/6.1.63]
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Pinz, H., Pyle, L. C., Li, D., Izumi, K., Skraban, C., Tarpinian, J., Braddock, S. R., Telegrafi, A., Monaghan, K. G., Zackai, E., Bhoj, E. J.
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<strong>De novo variants in myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.</strong>
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Am. J. Med. Genet. 176A: 969-972, 2018.
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[PubMed: 29446546]
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[Full Text: https://doi.org/10.1002/ajmg.a.38620]
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Qi, H., Yu, L., Zhou, X., Wynn, J., Zhao, H., Guo, Y., Zhu, N., Kitaygorodsky, A., Hernan, R., Aspelund, G., Lim, F.-Y., Crombleholme, T., and 17 others.
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<strong>De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.</strong>
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PLoS Genet. 14: e1007822, 2018. Note: Electronic Article.
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[PubMed: 30532227]
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[Full Text: https://doi.org/10.1371/journal.pgen.1007822]
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Stohr, H., Marquardt, A., White, K., Weber, B. H. F.
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<strong>cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-q13.1 which encodes a highly conserved, potential membrane-associated protein.</strong>
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Cytogenet. Cell Genet. 88: 211-216, 2000.
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[PubMed: 10828591]
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[Full Text: https://doi.org/10.1159/000015552]
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