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Entry
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- *603892 - ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2
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- OMIM
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<p>
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<span class="h4">*603892</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603892">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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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=ENSG00000108883;t=ENST00000426333" 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=9343" 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=603892" 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 id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000108883;t=ENST00000426333" 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_001142605,NM_001258353,NM_001258354,NM_004247,XM_047437084" 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_004247" 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=603892" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04869&isoform_id=04869_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/EFTUD2" 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/12803113,18202501,24474791,38175020,48145665,119571958,119571959,158259677,193785141,193785178,194380910,194382972,194386932,217272892,217272894,221045584,385298678,385298680,929653726,2217314812,2462558819" 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/Q15029" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=9343" 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=ENSG00000108883;t=ENST00000426333" 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=EFTUD2" 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=EFTUD2" 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+9343" 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/EFTUD2" 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:9343" 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/9343" 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=chr17&hgg_gene=ENST00000426333.7&hgg_start=44849948&hgg_end=44899445&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30858" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:30858" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/eftud2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603892[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=603892[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/EFTUD2/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/ENSG00000108883" 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=EFTUD2" 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=EFTUD2" 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=EFTUD2" 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=EFTUD2&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/PA142671915" 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:30858" 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/FBgn0039566.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:1336880" 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/EFTUD2#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:1336880" 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/9343/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9343" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001166;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1569" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9343" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=EFTUD2&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> 711543008<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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603892
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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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ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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U5 snRNP-SPECIFIC PROTEIN, 116-KD<br />
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U5-116KD<br />
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KIAA0031
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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=EFTUD2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EFTUD2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/17/647?start=-3&limit=10&highlight=647">17q21.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:44849948-44899445&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'})">17:44,849,948-44,899,445</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/647?start=-3&limit=10&highlight=647">
|
|
17q21.31
|
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</a>
|
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</span>
|
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</td>
|
|
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<td>
|
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<span class="mim-font">
|
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Mandibulofacial dysostosis, Guion-Almeida type
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/610536"> 610536 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603892" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The EFTUD2 gene encodes U5-116kD, a highly conserved spliceosomal GTPase (<a href="#3" class="mim-tip-reference" title="Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R. <strong>An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.</strong> EMBO J. 16: 4092-4106, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9233818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9233818</a>] [<a href="https://doi.org/10.1093/emboj/16.13.4092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9233818">Fabrizio et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9233818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The 4 small nuclear ribonucleoprotein (snRNP) particles U1, U2, U4/U6, and U5 are mRNA splicing factors that contain 1 or more of the small nuclear RNA (snRNA) components. The 20S U5 snRNP contains the common proteins present in each particle (see <a href="/entry/603541">603541</a>) as well as 9 specific proteins with molecular weights ranging from 15 to 220 kD. By searching sequence databases with the partial protein sequence of U5-116kD, <a href="#3" class="mim-tip-reference" title="Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R. <strong>An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.</strong> EMBO J. 16: 4092-4106, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9233818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9233818</a>] [<a href="https://doi.org/10.1093/emboj/16.13.4092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9233818">Fabrizio et al. (1997)</a> determined that the KIAA0031 cDNA identified by <a href="#8" class="mim-tip-reference" title="Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong> DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584026</a>] [<a href="https://doi.org/10.1093/dnares/1.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584026">Nomura et al. (1994)</a> encodes human U5-116kD. The predicted 972-amino acid protein is structurally closely related to the eukaryotic translation elongation factor EF2 (<a href="/entry/130610">130610</a>), sharing 27 to 50% sequence identity depending on the region examined. U5-116kD contains consensus GTPase motifs, and <a href="#3" class="mim-tip-reference" title="Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R. <strong>An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.</strong> EMBO J. 16: 4092-4106, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9233818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9233818</a>] [<a href="https://doi.org/10.1093/emboj/16.13.4092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9233818">Fabrizio et al. (1997)</a> showed that this protein bound GTP specifically. Immunofluorescence microscopy revealed that U5-116kD is located in the nucleus of HeLa cells and colocalizes with snRNP-containing nuclear speckles. Antibodies against U5-116kD inhibited pre-mRNA splicing in a HeLa nuclear extract. These authors also identified homologs in S. cerevisiae, C. elegans, and mouse, designating them Snu114p, Caeel-116H, and U5-116kD, respectively. Human U5-116kD shares 32%, 74%, and 99% identity with Snu114p, Caeel-116H, and mouse U5-116kD, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7584026+9233818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others. <strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong> J. Med. Genet. 49: 737-746, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23188108">Gordon et al. (2012)</a> performed in situ hybridization on cryosections of mice at embryonic day 11.5 and observed strong Eftud2 expression in the mesenchyme of limb buds and lung buds. Eftud2 expression was also noted in the trachea and esophagus, mandibular mesenchyme, ventricular zone cells of the forebrain, and the epithelium of the otic vesicle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23188108" 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 analysis of somatic cell hybrids, <a href="#8" class="mim-tip-reference" title="Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong> DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584026</a>] [<a href="https://doi.org/10.1093/dnares/1.1.27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584026">Nomura et al. (1994)</a> mapped the EFTUD2 gene to chromosome 17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584026" 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="Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R. <strong>An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.</strong> EMBO J. 16: 4092-4106, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9233818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9233818</a>] [<a href="https://doi.org/10.1093/emboj/16.13.4092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9233818">Fabrizio et al. (1997)</a> demonstrated that yeast Snu114 is essential for cell viability and pre-mRNA splicing in vivo. A mutation in the putative GTP-binding site of Snu114 was lethal. The authors concluded that the GTP-binding domain of the U5-116kD protein plays an important role in either the splicing process itself or the recycling of spliceosomal snRNPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9233818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using cryoelectron microscopy single-particle reconstruction of the S. cerevisiae tri-snRNP at 5.9-angstrom resolution, <a href="#7" class="mim-tip-reference" title="Nguyen, T. H. D., Galej, W. P., Bai, X., Savva, C. G., Newman, A. J., Scheres, S. H. W., Nagai, K. <strong>The architecture of the spliceosomal U4/U6.U5 tri-snRNP.</strong> Nature 523: 47-52, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26106855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26106855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26106855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature14548" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26106855">Nguyen et al. (2015)</a> determined the complete organization of the tri-snRNP RNA and protein components, including Brr2 (SNRNP200; <a href="/entry/601664">601664</a>), Snu114, and Prp8 (PRPF8; <a href="/entry/607300">607300</a>). The single-stranded region of U4 snRNA (see <a href="/entry/620822">620822</a>) between its 3-prime stem-loop and the U4/U6 (see <a href="/entry/180692">180692</a>) snRNA stem I was loaded into the Brr2 helicase active site ready for unwinding. Snu114 and the N-terminal domain of Prp8 positioned U5 snRNA (see <a href="/entry/180691">180691</a>) to insert its loop I, which aligns exons for splicing, into the Prp8 active-site cavity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26106855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 12 unrelated patients with mandibulofacial dysostosis with microcephaly (MFDGA; <a href="/entry/610536">610536</a>), <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified heterozygous de novo mutations in or deletions involving the EFTUD2 gene (see, e.g., <a href="#0001">603892.0001</a>-<a href="#0005">603892.0005</a>). A range of mutations, including deletions, frameshifts, splice site, nonsense, and missense mutations were identified, consistent with haploinsufficiency as the disease mechanism. The mutations were found by exome capture and high-throughput sequencing of 4 unrelated affected individuals, followed by analysis of EFTUD2 in 8 additional patients. The phenotype was characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, global developmental delay, and speech delay. A significant number of patients had major sequelae, including choanal atresia resulting in respiratory difficulties, conductive hearing loss, and cleft palate. MFDGA is the first multiple malformation syndrome attributed to a defect of the major spliceosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22305528" 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 patient with features of the Nager type of acrofacial dysostosis (AFD1; <a href="/entry/154400">154400</a>) but who also exhibited microcephaly and was negative for mutation in the SF3B4 gene (<a href="/entry/605593">605593</a>), <a href="#2" class="mim-tip-reference" title="Bernier, F. P., Caluseriu, O., Ng, S., Schwartzentruber, J., Buckingham, K. J., Innes, A. M., Jabs, E. W., Innis, J. W., Schuette, J. L., Gorski, J. L., Byers, P. H., Andelfinger, G., and 12 others. <strong>Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.</strong> Am. J. Hum. Genet. 90: 925-933, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22541558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22541558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22541558[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22541558">Bernier et al. (2012)</a> identified a nonsense mutation in the EFTUD2 gene (<a href="#0006">603892.0006</a>). <a href="#2" class="mim-tip-reference" title="Bernier, F. P., Caluseriu, O., Ng, S., Schwartzentruber, J., Buckingham, K. J., Innes, A. M., Jabs, E. W., Innis, J. W., Schuette, J. L., Gorski, J. L., Byers, P. H., Andelfinger, G., and 12 others. <strong>Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.</strong> Am. J. Hum. Genet. 90: 925-933, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22541558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22541558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22541558[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22541558">Bernier et al. (2012)</a> suggested that the correct diagnosis in this patient was MFDGA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22541558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others. <strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong> J. Med. Genet. 49: 737-746, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23188108">Gordon et al. (2012)</a> analyzed the EFTUD2 gene in 3 groups of patients: 17 cases with isolated esophageal atresia, 19 cases with oculoauriculovertebral spectrum (OAVS; see <a href="/entry/164210">164210</a>), and 14 patients with mandibulofacial dysostosis and esophageal atresia and/or microcephaly. No mutations were found in the first 2 groups, but 10 of the last group had pathogenic EFTUD2 mutations (see, e.g., <a href="#0007">603892.0007</a> and <a href="#0008">603892.0008</a>) or deletions. Of the 10 patients with pathogenic EFTUD2 mutations, 8 presented with esophageal atresia as a component of the phenotype; <a href="#4" class="mim-tip-reference" title="Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others. <strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong> J. Med. Genet. 49: 737-746, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23188108">Gordon et al. (2012)</a> concluded that esophageal atresia is an additional malformation caused by heterozygous EFTUD2 loss-of-function mutations. The authors noted that microcephaly might not be a consistent feature in this syndrome and proposed designating the entity 'MFD Guion-Almeida type.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23188108" 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="#1" class="mim-tip-reference" title="Beauchamp, M. C., Djedid, A., Bareke, E., Merkuri, F., Aber, R., Tam, A. S., Lines, M. A., Boycott, K. M., Stirling, P. C., Fish, J. L., Majewski, J., Jerome-Majewska, L. A. <strong>Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.</strong> Hum. Molec. Genet. 30: 739-757, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33601405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33601405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33601405[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddab051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33601405">Beauchamp et al. (2021)</a> found that mice homozygous for neural crest cell-specific deletion of Eftud2 had craniofacial malformations and underwent embryonic lethality. Sensory cranial ganglia were formed in mutant embryos, but they were abnormal. Eftud2 mutant neural crest cells migrated to the craniofacial region but failed to survive and expand due to increased apoptosis. RNA sequencing analysis revealed increased exon skipping and altered gene expression in Eftud2 mutants, findings also observed in cells from patients with MFDGA. However, changes in gene expression were not due to the introduction of exons containing premature termination codons. P53 (<a href="/entry/191170">191170</a>) was among the upregulated genes in Eftud2 mutant neural crest cells. Loss of Eftud2 led to increased skipping of exon 3 of Mdm2 (<a href="/entry/164785">164785</a>), a master regulator of p53, which in turn resulted in increased accumulation of nuclear p53 and expression of p53 target genes. Moreover, decreasing p53 activity via an inhibitor at least partially rescued a subset of craniofacial defects in Eftud2 mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33601405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with mandibulofacial dysostosis with microcephaly (MFDGA; <a href="/entry/610536">610536</a>) reported by <a href="#9" class="mim-tip-reference" title="Wieczorek, D., Gener, B., Gonzalez, M. J. M., Seland, S., Fischer, S., Hehr, U., Kuechler, A., Hoefsloot, L. H., de Leeuw, N., Gillessen-Kaesbach, G., Lohmann, D. R. <strong>Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.</strong> Am. J. Med. Genet. 149A: 837-843, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19334086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19334086</a>] [<a href="https://doi.org/10.1002/ajmg.a.32747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19334086">Wieczorek et al. (2009)</a>, <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified a heterozygous de novo c.784C-T transition in the EFTUD2 gene, resulting in an arg262-to-trp (R262W) substitution in a highly conserved residue in the GTP-binding pocket. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22305528+19334086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>) reported by <a href="#9" class="mim-tip-reference" title="Wieczorek, D., Gener, B., Gonzalez, M. J. M., Seland, S., Fischer, S., Hehr, U., Kuechler, A., Hoefsloot, L. H., de Leeuw, N., Gillessen-Kaesbach, G., Lohmann, D. R. <strong>Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.</strong> Am. J. Med. Genet. 149A: 837-843, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19334086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19334086</a>] [<a href="https://doi.org/10.1002/ajmg.a.32747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19334086">Wieczorek et al. (2009)</a>, <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified a heterozygous de novo c.2770C-T transition in the EFTUD2 gene, resulting in a gln924-to-ter (Q924X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22305528+19334086" 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">rs879253725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253725;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=rs879253725" 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=rs879253725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>) reported by <a href="#5" class="mim-tip-reference" title="Guion-Almeida, M. L., Zechi-Ceide, R. M., Vendramini, S., Tabith, A., Jr. <strong>A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.</strong> Clin. Dysmorph. 15: 171-174, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16760738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16760738</a>] [<a href="https://doi.org/10.1097/01.mcd.0000220603.09661.7e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16760738">Guion-Almeida et al. (2006)</a>, <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified a heterozygous de novo 1-bp deletion at nucleotide 1758 of the EFTUD2 gene, resulting in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22305528+16760738" 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 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879253726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253726;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=rs879253726" 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=rs879253726" 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=RCV000023356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023356</a>
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<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>), <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified a heterozygous de novo c.2493C-A transversion in the EFTUD2 gene, resulting in a tyr831-to-ter (Y831X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22305528" 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 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906879 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906879;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=rs387906879" 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=rs387906879" 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=RCV000023357" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023357" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023357</a>
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<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>), <a href="#6" class="mim-tip-reference" title="Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others. <strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong> Am. J. Hum. Genet. 90: 369-377, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22305528">Lines et al. (2012)</a> identified a heterozygous de novo c.1910T-G transversion in the EFTUD2 gene, resulting in a leu637-to-arg (L637R) substitution in a highly conserved residue that forms an internal contact in domain III, predicted to result in substantial derangement of protein function and/or stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22305528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879253727 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253727;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=rs879253727" 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=rs879253727" 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=RCV000024338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024338</a>
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<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>), <a href="#2" class="mim-tip-reference" title="Bernier, F. P., Caluseriu, O., Ng, S., Schwartzentruber, J., Buckingham, K. J., Innes, A. M., Jabs, E. W., Innis, J. W., Schuette, J. L., Gorski, J. L., Byers, P. H., Andelfinger, G., and 12 others. <strong>Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.</strong> Am. J. Hum. Genet. 90: 925-933, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22541558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22541558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22541558[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22541558">Bernier et al. (2012)</a> identified heterozygosity for a c.2495C-G transversion in the EFTUD2 gene, resulting in a tyr832-to-ter (Y832X) substitution. The patient had originally been diagnosed with the Nager type of acrofacial dysostosis (AFD1; <a href="/entry/154400">154400</a>), but in retrospect was noted to display microcephaly, suggesting that MFDGA rather than Nager syndrome was the appropriate diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22541558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515431 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515431;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=rs397515431" 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=rs397515431" 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=RCV000033145" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033145" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033145</a>
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<p>In a 4-year-old patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; <a href="/entry/610536">610536</a>), <a href="#4" class="mim-tip-reference" title="Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others. <strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong> J. Med. Genet. 49: 737-746, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23188108">Gordon et al. (2012)</a> identified a heterozygous de novo c.623A-G transition in the EFTUD2 gene, resulting in a his208-to-arg (H208R) substitution at a conserved residue within the switch II region of the GTP-binding domain, a putative guanine exchange factor interaction site. The mutation was not found in the dbSNP or 1000 Genomes Project databases. The patient presented with choanal atresia, esophageal atresia, facial asymmetry, dysplastic ears, hearing loss, agenesis of the lateral semicircular canals, postnatal microcephaly, and delayed psychomotor development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23188108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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EFTUD2, IVS27, 1-BP DEL, +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">rs879253728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253728;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=rs879253728" 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=rs879253728" 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=RCV000033146" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033146" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033146</a>
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<p>In a female fetus for whom pregnancy was terminated at 29 weeks' gestation due to the association of esophageal atresia and delayed gyration and in whom dysplastic ears, microretrognathia, and microcephaly with no brain formation were reported on necropsy (MFDGA; <a href="/entry/610536">610536</a>), <a href="#4" class="mim-tip-reference" title="Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others. <strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong> J. Med. Genet. 49: 737-746, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23188108">Gordon et al. (2012)</a> identified heterozygosity for a 1-bp deletion involving the donor splice site of intron 27 (c.2823+1del), predicted to abolish splicing. The mutation, which was inherited from the mother in whom it had arisen de novo, was 'absent from databases.' Features in the mother included microcephaly, mixed hearing loss, mild intellectual disability, and brachydactyly of fingers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23188108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1093/hmg/ddab051" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.04.004" target="_blank">Full Text</a>]
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Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R.
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[<a href="https://doi.org/10.1093/emboj/16.13.4092" target="_blank">Full Text</a>]
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Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others.
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<strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong>
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J. Med. Genet. 49: 737-746, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23188108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23188108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23188108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-101173" target="_blank">Full Text</a>]
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Guion-Almeida, M. L., Zechi-Ceide, R. M., Vendramini, S., Tabith, A., Jr.
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<strong>A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16760738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16760738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16760738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/01.mcd.0000220603.09661.7e" target="_blank">Full Text</a>]
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Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others.
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<strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong>
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Am. J. Hum. Genet. 90: 369-377, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22305528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22305528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22305528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22305528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.12.023" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature14548" target="_blank">Full Text</a>]
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Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S.
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[<a href="https://doi.org/10.1093/dnares/1.1.27" target="_blank">Full Text</a>]
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Wieczorek, D., Gener, B., Gonzalez, M. J. M., Seland, S., Fischer, S., Hehr, U., Kuechler, A., Hoefsloot, L. H., de Leeuw, N., Gillessen-Kaesbach, G., Lohmann, D. R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19334086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19334086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19334086" 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.32747" target="_blank">Full Text</a>]
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Bao Lige - updated : 09/01/2023<br>Marla J. F. O'Neill - updated : 2/19/2013<br>Marla J. F. O'Neill - updated : 6/4/2012<br>Cassandra L. Kniffin - updated : 2/29/2012
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U5 snRNP-SPECIFIC PROTEIN, 116-KD<br />
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KIAA0031
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EFTUD2</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> 711543008;
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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: 17q21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:44,849,948-44,899,445 </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>
|
|
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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|
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
|
17q21.31
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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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Mandibulofacial dysostosis, Guion-Almeida type
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
610536
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</span>
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|
</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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|
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</tr>
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|
|
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|
|
</tbody>
|
|
</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">
|
|
<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">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>The EFTUD2 gene encodes U5-116kD, a highly conserved spliceosomal GTPase (Fabrizio et al., 1997). </p>
|
|
</span>
|
|
<div>
|
|
<br />
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
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|
<p>The 4 small nuclear ribonucleoprotein (snRNP) particles U1, U2, U4/U6, and U5 are mRNA splicing factors that contain 1 or more of the small nuclear RNA (snRNA) components. The 20S U5 snRNP contains the common proteins present in each particle (see 603541) as well as 9 specific proteins with molecular weights ranging from 15 to 220 kD. By searching sequence databases with the partial protein sequence of U5-116kD, Fabrizio et al. (1997) determined that the KIAA0031 cDNA identified by Nomura et al. (1994) encodes human U5-116kD. The predicted 972-amino acid protein is structurally closely related to the eukaryotic translation elongation factor EF2 (130610), sharing 27 to 50% sequence identity depending on the region examined. U5-116kD contains consensus GTPase motifs, and Fabrizio et al. (1997) showed that this protein bound GTP specifically. Immunofluorescence microscopy revealed that U5-116kD is located in the nucleus of HeLa cells and colocalizes with snRNP-containing nuclear speckles. Antibodies against U5-116kD inhibited pre-mRNA splicing in a HeLa nuclear extract. These authors also identified homologs in S. cerevisiae, C. elegans, and mouse, designating them Snu114p, Caeel-116H, and U5-116kD, respectively. Human U5-116kD shares 32%, 74%, and 99% identity with Snu114p, Caeel-116H, and mouse U5-116kD, respectively. </p><p>Gordon et al. (2012) performed in situ hybridization on cryosections of mice at embryonic day 11.5 and observed strong Eftud2 expression in the mesenchyme of limb buds and lung buds. Eftud2 expression was also noted in the trachea and esophagus, mandibular mesenchyme, ventricular zone cells of the forebrain, and the epithelium of the otic vesicle. </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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|
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<span class="mim-text-font">
|
|
<p>By analysis of somatic cell hybrids, Nomura et al. (1994) mapped the EFTUD2 gene to chromosome 17. </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>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>Fabrizio et al. (1997) demonstrated that yeast Snu114 is essential for cell viability and pre-mRNA splicing in vivo. A mutation in the putative GTP-binding site of Snu114 was lethal. The authors concluded that the GTP-binding domain of the U5-116kD protein plays an important role in either the splicing process itself or the recycling of spliceosomal snRNPs. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>Using cryoelectron microscopy single-particle reconstruction of the S. cerevisiae tri-snRNP at 5.9-angstrom resolution, Nguyen et al. (2015) determined the complete organization of the tri-snRNP RNA and protein components, including Brr2 (SNRNP200; 601664), Snu114, and Prp8 (PRPF8; 607300). The single-stranded region of U4 snRNA (see 620822) between its 3-prime stem-loop and the U4/U6 (see 180692) snRNA stem I was loaded into the Brr2 helicase active site ready for unwinding. Snu114 and the N-terminal domain of Prp8 positioned U5 snRNA (see 180691) to insert its loop I, which aligns exons for splicing, into the Prp8 active-site cavity. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 12 unrelated patients with mandibulofacial dysostosis with microcephaly (MFDGA; 610536), Lines et al. (2012) identified heterozygous de novo mutations in or deletions involving the EFTUD2 gene (see, e.g., 603892.0001-603892.0005). A range of mutations, including deletions, frameshifts, splice site, nonsense, and missense mutations were identified, consistent with haploinsufficiency as the disease mechanism. The mutations were found by exome capture and high-throughput sequencing of 4 unrelated affected individuals, followed by analysis of EFTUD2 in 8 additional patients. The phenotype was characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, global developmental delay, and speech delay. A significant number of patients had major sequelae, including choanal atresia resulting in respiratory difficulties, conductive hearing loss, and cleft palate. MFDGA is the first multiple malformation syndrome attributed to a defect of the major spliceosome. </p><p>In a patient with features of the Nager type of acrofacial dysostosis (AFD1; 154400) but who also exhibited microcephaly and was negative for mutation in the SF3B4 gene (605593), Bernier et al. (2012) identified a nonsense mutation in the EFTUD2 gene (603892.0006). Bernier et al. (2012) suggested that the correct diagnosis in this patient was MFDGA. </p><p>Gordon et al. (2012) analyzed the EFTUD2 gene in 3 groups of patients: 17 cases with isolated esophageal atresia, 19 cases with oculoauriculovertebral spectrum (OAVS; see 164210), and 14 patients with mandibulofacial dysostosis and esophageal atresia and/or microcephaly. No mutations were found in the first 2 groups, but 10 of the last group had pathogenic EFTUD2 mutations (see, e.g., 603892.0007 and 603892.0008) or deletions. Of the 10 patients with pathogenic EFTUD2 mutations, 8 presented with esophageal atresia as a component of the phenotype; Gordon et al. (2012) concluded that esophageal atresia is an additional malformation caused by heterozygous EFTUD2 loss-of-function mutations. The authors noted that microcephaly might not be a consistent feature in this syndrome and proposed designating the entity 'MFD Guion-Almeida type.' </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Beauchamp et al. (2021) found that mice homozygous for neural crest cell-specific deletion of Eftud2 had craniofacial malformations and underwent embryonic lethality. Sensory cranial ganglia were formed in mutant embryos, but they were abnormal. Eftud2 mutant neural crest cells migrated to the craniofacial region but failed to survive and expand due to increased apoptosis. RNA sequencing analysis revealed increased exon skipping and altered gene expression in Eftud2 mutants, findings also observed in cells from patients with MFDGA. However, changes in gene expression were not due to the introduction of exons containing premature termination codons. P53 (191170) was among the upregulated genes in Eftud2 mutant neural crest cells. Loss of Eftud2 led to increased skipping of exon 3 of Mdm2 (164785), a master regulator of p53, which in turn resulted in increased accumulation of nuclear p53 and expression of p53 target genes. Moreover, decreasing p53 activity via an inhibitor at least partially rescued a subset of craniofacial defects in Eftud2 mutant mice. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, ARG262TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906877,
|
|
|
|
|
|
|
|
ClinVar: RCV000023353, RCV001794462
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mandibulofacial dysostosis with microcephaly (MFDGA; 610536) reported by Wieczorek et al. (2009), Lines et al. (2012) identified a heterozygous de novo c.784C-T transition in the EFTUD2 gene, resulting in an arg262-to-trp (R262W) substitution in a highly conserved residue in the GTP-binding pocket. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, GLN924TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906878,
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|
|
|
|
|
|
|
ClinVar: RCV000023354, RCV001582495
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536) reported by Wieczorek et al. (2009), Lines et al. (2012) identified a heterozygous de novo c.2770C-T transition in the EFTUD2 gene, resulting in a gln924-to-ter (Q924X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, 1-BP DEL, NT1758
|
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|
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<br />
|
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|
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SNP: rs879253725,
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|
|
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|
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|
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ClinVar: RCV000023355
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536) reported by Guion-Almeida et al. (2006), Lines et al. (2012) identified a heterozygous de novo 1-bp deletion at nucleotide 1758 of the EFTUD2 gene, resulting in a frameshift and premature termination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, TYR831TER
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|
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|
|
<br />
|
|
|
|
SNP: rs879253726,
|
|
|
|
|
|
|
|
ClinVar: RCV000023356
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536), Lines et al. (2012) identified a heterozygous de novo c.2493C-A transversion in the EFTUD2 gene, resulting in a tyr831-to-ter (Y831X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, LEU637ARG
|
|
|
|
|
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<br />
|
|
|
|
SNP: rs387906879,
|
|
|
|
|
|
|
|
ClinVar: RCV000023357
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|
|
|
|
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536), Lines et al. (2012) identified a heterozygous de novo c.1910T-G transversion in the EFTUD2 gene, resulting in a leu637-to-arg (L637R) substitution in a highly conserved residue that forms an internal contact in domain III, predicted to result in substantial derangement of protein function and/or stability. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EFTUD2, TYR832TER
|
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|
|
|
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<br />
|
|
|
|
SNP: rs879253727,
|
|
|
|
|
|
|
|
ClinVar: RCV000024338
|
|
|
|
|
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536), Bernier et al. (2012) identified heterozygosity for a c.2495C-G transversion in the EFTUD2 gene, resulting in a tyr832-to-ter (Y832X) substitution. The patient had originally been diagnosed with the Nager type of acrofacial dysostosis (AFD1; 154400), but in retrospect was noted to display microcephaly, suggesting that MFDGA rather than Nager syndrome was the appropriate diagnosis. </p>
|
|
</span>
|
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</div>
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<span class="mim-font">
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<strong>.0007 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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EFTUD2, HIS208ARG
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<br />
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SNP: rs397515431,
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ClinVar: RCV000033145
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<p>In a 4-year-old patient with the Guion-Almeida type of mandibulofacial dysostosis (MFDGA; 610536), Gordon et al. (2012) identified a heterozygous de novo c.623A-G transition in the EFTUD2 gene, resulting in a his208-to-arg (H208R) substitution at a conserved residue within the switch II region of the GTP-binding domain, a putative guanine exchange factor interaction site. The mutation was not found in the dbSNP or 1000 Genomes Project databases. The patient presented with choanal atresia, esophageal atresia, facial asymmetry, dysplastic ears, hearing loss, agenesis of the lateral semicircular canals, postnatal microcephaly, and delayed psychomotor development. </p>
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<h4>
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<span class="mim-font">
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<strong>.0008 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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EFTUD2, IVS27, 1-BP DEL, +1
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<br />
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SNP: rs879253728,
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ClinVar: RCV000033146
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<span class="mim-text-font">
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<p>In a female fetus for whom pregnancy was terminated at 29 weeks' gestation due to the association of esophageal atresia and delayed gyration and in whom dysplastic ears, microretrognathia, and microcephaly with no brain formation were reported on necropsy (MFDGA; 610536), Gordon et al. (2012) identified heterozygosity for a 1-bp deletion involving the donor splice site of intron 27 (c.2823+1del), predicted to abolish splicing. The mutation, which was inherited from the mother in whom it had arisen de novo, was 'absent from databases.' Features in the mother included microcephaly, mixed hearing loss, mild intellectual disability, and brachydactyly of fingers. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Beauchamp, M. C., Djedid, A., Bareke, E., Merkuri, F., Aber, R., Tam, A. S., Lines, M. A., Boycott, K. M., Stirling, P. C., Fish, J. L., Majewski, J., Jerome-Majewska, L. A.
|
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<strong>Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.</strong>
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Hum. Molec. Genet. 30: 739-757, 2021.
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[PubMed: 33601405]
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[Full Text: https://doi.org/10.1093/hmg/ddab051]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bernier, F. P., Caluseriu, O., Ng, S., Schwartzentruber, J., Buckingham, K. J., Innes, A. M., Jabs, E. W., Innis, J. W., Schuette, J. L., Gorski, J. L., Byers, P. H., Andelfinger, G., and 12 others.
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<strong>Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.</strong>
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Am. J. Hum. Genet. 90: 925-933, 2012.
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[PubMed: 22541558]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.04.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fabrizio, P., Laggerbauer, B., Lauber, J., Lane, W. S., Luhrmann, R.
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<strong>An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.</strong>
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EMBO J. 16: 4092-4106, 1997.
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[PubMed: 9233818]
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[Full Text: https://doi.org/10.1093/emboj/16.13.4092]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gordon, C. T., Petit, F., Oufadem, M., Decaestecker, C., Jourdain, A.-S., Andrieux, J., Malan, V., Alessandri, J.-L., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., and 20 others.
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|
<strong>EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.</strong>
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J. Med. Genet. 49: 737-746, 2012.
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[PubMed: 23188108]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-101173]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Guion-Almeida, M. L., Zechi-Ceide, R. M., Vendramini, S., Tabith, A., Jr.
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<strong>A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.</strong>
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Clin. Dysmorph. 15: 171-174, 2006.
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[PubMed: 16760738]
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[Full Text: https://doi.org/10.1097/01.mcd.0000220603.09661.7e]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., and 16 others.
|
|
<strong>Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.</strong>
|
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Am. J. Hum. Genet. 90: 369-377, 2012.
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[PubMed: 22305528]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.12.023]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nguyen, T. H. D., Galej, W. P., Bai, X., Savva, C. G., Newman, A. J., Scheres, S. H. W., Nagai, K.
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<strong>The architecture of the spliceosomal U4/U6.U5 tri-snRNP.</strong>
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Nature 523: 47-52, 2015.
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[PubMed: 26106855]
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[Full Text: https://doi.org/10.1038/nature14548]
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</p>
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<p class="mim-text-font">
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Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayashi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K., Tabata, S.
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<strong>Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line, KG-1.</strong>
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DNA Res. 1: 27-35, 1994. Note: Erratum: DNA Res. 2: 210 only, 1995.
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[PubMed: 7584026]
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[Full Text: https://doi.org/10.1093/dnares/1.1.27]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wieczorek, D., Gener, B., Gonzalez, M. J. M., Seland, S., Fischer, S., Hehr, U., Kuechler, A., Hoefsloot, L. H., de Leeuw, N., Gillessen-Kaesbach, G., Lohmann, D. R.
|
|
<strong>Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.</strong>
|
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Am. J. Med. Genet. 149A: 837-843, 2009.
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[PubMed: 19334086]
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[Full Text: https://doi.org/10.1002/ajmg.a.32747]
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</p>
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</li>
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</ol>
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<br />
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Matthew B. Gross - updated : 05/09/2024<br>Bao Lige - updated : 09/01/2023<br>Marla J. F. O'Neill - updated : 2/19/2013<br>Marla J. F. O'Neill - updated : 6/4/2012<br>Cassandra L. Kniffin - updated : 2/29/2012
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Rebekah S. Rasooly : 6/9/1999
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