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Entry
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- *608755 - tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54
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- OMIM
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<p>
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<span class="h4">*608755</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608755">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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<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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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000182173;t=ENST00000333213" 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=283989" 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=608755" 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</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=ENSG00000182173;t=ENST00000333213" 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_207346" 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_207346" 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=608755" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div 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=12291&isoform_id=12291_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/TSEN54" 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/21753535,29126915,31565520,108389176,193783579,296452961" 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/Q7Z6J9" 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=283989" 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=ENSG00000182173;t=ENST00000333213" 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=TSEN54" 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=TSEN54" 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+283989" 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/TSEN54" 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:283989" 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/283989" 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=ENST00000333213.11&hgg_start=75516528&hgg_end=75524735&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 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:27561" 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://medlineplus.gov/genetics/gene/tsen54" 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=608755[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=608755[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/TSEN54/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/ENSG00000182173" 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=TSEN54" 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=TSEN54" 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=TSEN54" 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=TSEN54&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/PA142670692" 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:27561" 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/FBgn0036266.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:1923515" 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/TSEN54#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:1923515" 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/283989/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002215/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=283989" 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=WBGene00018680;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-050522-454" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TSEN54&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> 718607001, 718608006<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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608755
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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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tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF<br />
|
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SEN54, YEAST, HOMOLOG OF; SEN54
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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=TSEN54" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TSEN54</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/944?start=-3&limit=10&highlight=944">17q25.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:75516528-75524735&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'})">17:75,516,528-75,524,735</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=610204,277470,225753" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/944?start=-3&limit=10&highlight=944">
|
|
17q25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Pontocerebellar hypoplasia type 5
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610204"> 610204 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Pontocerebellar hypoplasia type 2A
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/277470"> 277470 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>tRNA splicing is a fundamental process required for cell growth and division. SEN54 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (<a href="#7" class="mim-tip-reference" title="Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R. <strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong> Cell 117: 311-321, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15109492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15109492</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00342-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15109492">Paushkin et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15109492" 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 searching sequence databases using yeast Sen54 as probe, <a href="#7" class="mim-tip-reference" title="Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R. <strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong> Cell 117: 311-321, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15109492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15109492</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00342-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15109492">Paushkin et al. (2004)</a> identified SEN54. SEN54 contains 526 amino acids and has a calculated molecular mass of 58 kD. Amino acid conservation between human and yeast SEN54 is restricted to the N- and C-terminal regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15109492" 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="#7" class="mim-tip-reference" title="Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R. <strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong> Cell 117: 311-321, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15109492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15109492</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00342-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15109492">Paushkin et al. (2004)</a> identified and characterized the human tRNA splicing endonuclease. This enzyme consists of SEN2 (<a href="/entry/608753">608753</a>), SEN34 (<a href="/entry/608754">608754</a>), SEN15 (<a href="/entry/608756">608756</a>), and SEN54, homologs of the yeast tRNA endonuclease subunits. Additionally, an alternatively spliced variant of SEN2 is part of a complex with unique RNA endonuclease activity. <a href="#7" class="mim-tip-reference" title="Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R. <strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong> Cell 117: 311-321, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15109492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15109492</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00342-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15109492">Paushkin et al. (2004)</a> found that both human endonuclease complexes are associated with CLP1 (<a href="/entry/608757">608757</a>), a pre-mRNA 3-prime end processing factor. Small interfering RNA-mediated depletion of SEN2 led to defects in maturation of both pre-tRNA and pre-mRNA. These findings demonstrated a link between pre-tRNA splicing and pre-mRNA 3-prime end formation, suggesting that the endonuclease subunits function in multiple RNA processing events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15109492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> showed that TSEN54 is highly expressed in neurons of the pons, cerebellar dentate, and olivary nuclei during the second trimester of pregnancy, a determining period for the morphologic development of these structures. Other brain regions showed low or no staining. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" 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="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> found the TSEN54 gene in a 3.4-cM interval on chromosome 17q25.1 identified by linkage analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" 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 42 individuals with pontocerebellar hypoplasia type 2 (PCH2A; <a href="/entry/277470">277470</a>), <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> identified homozygosity for an ala307-to-ser mutation in the TSEN54 gene (A307S; <a href="#0001">608755.0001</a>). <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> also found this mutation in 3 patients with pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>); in 1 of these patients, 1 TSEN54 allele carried a ser93-to-pro substitution in addition to the A307S mutation (S93P/A307S; <a href="#0002">608755.0002</a>), and in the other 2 patients, compound heterozygosity was found for A307S and a different nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M., Bertini, E. <strong>Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.</strong> Neurology 75: 1459-1464, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956791</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f88173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956791">Cassandrini et al. (2010)</a> identified a homozygous A307S mutation in 7 affected individuals from 6 unrelated Italian families with PCH2A. Two additional patients had a heterozygous A307S mutation: 1 patient with a PCH2A phenotype in whom the second mutation could not be detected, and another patient with a more severe phenotype (PCH4) who was compound heterozygous for A307S and a truncating mutation (<a href="#0005">608755.0005</a>). Thus, A307S accounted for 16 (89%) of 18 mutant alleles, and haplotype analysis suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956791" 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="Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others. <strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong> Brain 134: 143-156, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20952379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20952379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20952379[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/brain/awq287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20952379">Namavar et al. (2011)</a> identified homozygosity for the common A307S mutation in the TSEN54 gene in 88 (52.1%) of 169 patients with various forms of pontocerebellar hypoplasia. All homozygous mutation carriers had a phenotype consistent with PCH2A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20952379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others. <strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong> Brain 134: 143-156, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20952379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20952379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20952379[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/brain/awq287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20952379">Namavar et al. (2011)</a> found that patients homozygous for the common TSEN54 missense mutation A307S had a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation had a more severe phenotype consistent with PCH4. Functional studies of TSEN54 variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20952379" 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 pontocerebellar hypoplasia type 5 (PCH5; <a href="/entry/610204">610204</a>) reported by <a href="#6" class="mim-tip-reference" title="Patel, M. S., Becker, L. E., Toi, A., Armstrong, D. L., Chitayat, D. <strong>Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?</strong> Am. J. Med. Genet. 140A: 594-603, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470708</a>] [<a href="https://doi.org/10.1002/ajmg.a.31095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470708">Patel et al. (2006)</a>, <a href="#4" class="mim-tip-reference" title="Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others. <strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong> Brain 134: 143-156, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20952379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20952379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20952379[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/brain/awq287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20952379">Namavar et al. (2011)</a> identified compound heterozygous mutations in the TSEN54 gene: 1 allele carried the common A307S mutation found in patients with the milder phenotype PCH2A, and the other allele carried a putative splice site mutation (<a href="#0006">608755.0006</a>). Functional studies of the variants were not performed. <a href="#4" class="mim-tip-reference" title="Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others. <strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong> Brain 134: 143-156, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20952379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20952379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20952379[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/brain/awq287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20952379">Namavar et al. (2011)</a> noted the phenotypic similarity to PCH4, which is caused by compound heterozygosity for A307S and different pathogenic TSEN54 mutations. The findings indicated that biallelic TSEN54 mutations can cause a spectrum of clinical manifestations of PCH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16470708+20952379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608755[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A</strong>
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PONTOCEREBELLAR HYPOPLASIA, TYPE 5, INCLUDED (1 patient)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs113994152 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994152;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs113994152?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs113994152" 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=rs113994152" 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=RCV000002201 OR RCV000002203 OR RCV000147790 OR RCV000157630 OR RCV000157631 OR RCV000224437 OR RCV000414963 OR RCV000415005 OR RCV000515314 OR RCV000585824 OR RCV000623727 OR RCV000627018 OR RCV001193388 OR RCV001255369 OR RCV001813937 OR RCV001824557 OR RCV003153294 OR RCV003335010 OR RCV004755700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002201, RCV000002203, RCV000147790, RCV000157630, RCV000157631, RCV000224437, RCV000414963, RCV000415005, RCV000515314, RCV000585824, RCV000623727, RCV000627018, RCV001193388, RCV001255369, RCV001813937, RCV001824557, RCV003153294, RCV003335010, RCV004755700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002201...</a>
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<p>In 42 individuals with pontocerebellar hypoplasia type 2 (PCH2A; <a href="/entry/277470">277470</a>), <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> identified homozygosity for a 919G-T transversion in the TSEN54 gene, resulting in an ala307-to-ser (A307S) substitution. This mutation is likely due to a single founder event estimated by <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> to have occurred at least 11 to 16 generations ago. This region of the protein is conserved in mammals and chicken but is not highly conserved in lower organisms. Analysis of 451 Dutch and 279 German control DNA samples yielded no homozygous and only 5 Dutch and 1 German heterozygous genotypes. Additionally, <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> screened 136 healthy unrelated individuals from Volendam; no homozygous individuals and only 2 heterozygous individuals were identified. Thus, the allele frequency of the 919G-T variant in the PCH2 subjects was 0.884, counting the Volendam subjects as a single data point, and that in the control population was 0.004. These data strongly suggested that the TSEN54 locus is responsible for most cases of PCH2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> also found the 919G-T mutation in 3 individuals with pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>), in isolation on 3 alleles (with compound heterozygosity in 2; see <a href="#0003">608755.0003</a>, <a href="#0004">608755.0004</a>) and once in a complex mutation with another missense substitution (<a href="#0002">608755.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M., Bertini, E. <strong>Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.</strong> Neurology 75: 1459-1464, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956791</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f88173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956791">Cassandrini et al. (2010)</a> identified a homozygous A307S mutation in 7 affected individuals from 6 unrelated Italian families with PCH2A. Two additional patients had a heterozygous A307S mutation: 1 patient with a PCH2A phenotype in whom the second mutation could not be detected, and another patient with a more severe phenotype (PCH4) who was compound heterozygous for A307S and a truncating mutation (<a href="#0005">608755.0005</a>). Thus, A307S accounted for 16 (89%) of 18 mutant alleles, and haplotype analysis suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956791" 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 pontocerebellar hypoplasia type 5 (PCH5; <a href="/entry/610204">610204</a>), <a href="#5" class="mim-tip-reference" title="Namavar, Y., Chitayat, D., Barth, P. G., van Ruissen, F., de Wissel, M. B., Poll-The, B. T., Silver, R., Baas, F. <strong>TSEN54 mutations cause pontocerebellar hypoplasia type 5.</strong> Europ. J. Hum. Genet. 19: 724-726, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368912</a>] [<a href="https://doi.org/10.1038/ejhg.2011.8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21368912">Namavar et al. (2011)</a> identified compound heterozygosity for the common A307S mutation and a splice site mutation (<a href="#0006">608755.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21368912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</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">rs113994151 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994151;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=rs113994151" 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=rs113994151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an individual with severe infantile pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>), <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> found on one TSEN54 allele a 227T-C transition in addition to the 919G-T mutation (A307S; <a href="#0001">608755.0001</a>), and on the other the 919G-T mutation alone. The 227T-C mutation results in a substitution of proline for serine at codon 93 (S93P). While ser93 is not highly conserved, this residue is situated in an antiparallel beta-sheet, and a proline in that position would likely hamper proper folding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" 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://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002204 OR RCV001197352 OR RCV003555896" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002204, RCV001197352, RCV003555896" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002204...</a>
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<p>In a male with infantile lethal pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>), previously reported by <a href="#1" class="mim-tip-reference" title="Barth, P. G., Aronica, E., de Vries, L., Nikkels, P. G. J., Scheper, W., Hoozemans, J. J., Poll-The, B.-T., Troost, D. <strong>Pontocerebellar hypoplasia type 2: a neuropathological update.</strong> Acta Neuropath. 114: 373-386, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17641900[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/10.1007/s00401-007-0263-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17641900">Barth et al. (2007)</a>, <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> identified compound heterozygosity for the A307S mutation in TSEN54 (<a href="#0001">608755.0001</a>) and a C-to-T transition at nucleotide 736, resulting in a glutamine-to-stop substitution at codon 246 (Q246X). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17641900+18711368" 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 female with infantile lethal pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>), <a href="#2" class="mim-tip-reference" title="Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others. <strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong> Nature Genet. 40: 1113-1118, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>] [<a href="https://doi.org/10.1038/ng.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711368">Budde et al. (2008)</a> identified compound heterozygosity for the A307S substitution (<a href="#0001">608755.0001</a>) in TSEN54 and a C-to-T transition at nucleotide 1027, resulting in a glutamine-to-stop codon substitution at codon 343 (Q343X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" 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 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</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">rs886037629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037629;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=rs886037629" 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=rs886037629" 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=RCV000023730 OR RCV003556081" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023730, RCV003556081" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023730...</a>
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<p>In an Italian infant girl with lethal pontocerebellar hypoplasia type 4 (PCH4; <a href="/entry/225753">225753</a>), <a href="#3" class="mim-tip-reference" title="Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M., Bertini, E. <strong>Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.</strong> Neurology 75: 1459-1464, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956791</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f88173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20956791">Cassandrini et al. (2010)</a> identified compound heterozygosity for 2 mutations in the TSEN54 gene: a 14-bp deletion (1170_1183del), resulting in a frameshift and premature termination, and the common A307S mutation (<a href="#0001">608755.0001</a>). She presented at birth with hypertonia, congenital contractures, and seizures, and died at age 1 month. Brain MRI showed marked cerebellar atrophy with a peculiar cavitation in the hemispheres and vermis, and severe hypoplasia of the brainstem. Neuropathologic examination showed reduced volume of the cerebellar cortex with loss of Purkinje cells and loss of the ventral pontine nuclei. However, there was a regular pattern of the 4-layered cortex. There was a fetal pattern in the inferior olivary nuclei. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956791" 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 PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (1 patient)</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">rs886037740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037740;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=rs886037740" 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=rs886037740" 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=RCV000157632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000157632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000157632</a>
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<p>In a patient with pontocerebellar hypoplasia type 5 (PCH5; <a href="/entry/610204">610204</a>), previously reported by <a href="#6" class="mim-tip-reference" title="Patel, M. S., Becker, L. E., Toi, A., Armstrong, D. L., Chitayat, D. <strong>Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?</strong> Am. J. Med. Genet. 140A: 594-603, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470708</a>] [<a href="https://doi.org/10.1002/ajmg.a.31095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470708">Patel et al. (2006)</a>, <a href="#5" class="mim-tip-reference" title="Namavar, Y., Chitayat, D., Barth, P. G., van Ruissen, F., de Wissel, M. B., Poll-The, B. T., Silver, R., Baas, F. <strong>TSEN54 mutations cause pontocerebellar hypoplasia type 5.</strong> Europ. J. Hum. Genet. 19: 724-726, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368912</a>] [<a href="https://doi.org/10.1038/ejhg.2011.8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21368912">Namavar et al. (2011)</a> identified compound heterozygous mutations in the TSEN54 gene: a T-to-C transition in intron 5 (c.468+2T-C), predicted to alter a splice site and result in the skipping of exon 5, and the common missense mutation A307S (<a href="#0001">608755.0001</a>). The splice site variant was not found in 176 control chromosomes. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16470708+21368912" 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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Acta Neuropath. 114: 373-386, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17641900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17641900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17641900[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=17641900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Budde2008" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others.
|
|
<strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong>
|
|
Nature Genet. 40: 1113-1118, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.204" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Cassandrini2010" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M., Bertini, E.
|
|
<strong>Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.</strong>
|
|
Neurology 75: 1459-1464, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20956791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20956791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20956791" 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/10.1212/WNL.0b013e3181f88173" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Namavar2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others.
|
|
<strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong>
|
|
Brain 134: 143-156, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20952379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20952379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20952379[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=20952379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awq287" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Namavar2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Namavar, Y., Chitayat, D., Barth, P. G., van Ruissen, F., de Wissel, M. B., Poll-The, B. T., Silver, R., Baas, F.
|
|
<strong>TSEN54 mutations cause pontocerebellar hypoplasia type 5.</strong>
|
|
Europ. J. Hum. Genet. 19: 724-726, 2011.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21368912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/ejhg.2011.8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Patel2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Patel, M. S., Becker, L. E., Toi, A., Armstrong, D. L., Chitayat, D.
|
|
<strong>Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?</strong>
|
|
Am. J. Med. Genet. 140A: 594-603, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470708" 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.31095" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
|
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<a id="Paushkin2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R.
|
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<strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong>
|
|
Cell 117: 311-321, 2004.
|
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15109492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15109492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15109492" 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/s0092-8674(04)00342-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/9/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/2/2011<br>Ada Hamosh - updated : 10/22/2008
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Stylianos E. Antonarakis : 6/21/2004
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/11/2024
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/16/2019<br>carol : 02/10/2015<br>mcolton : 2/9/2015<br>ckniffin : 2/9/2015<br>carol : 9/19/2013<br>terry : 4/22/2011<br>wwang : 3/9/2011<br>ckniffin : 2/2/2011<br>terry : 11/19/2008<br>alopez : 11/5/2008<br>alopez : 11/5/2008<br>terry : 10/22/2008<br>mgross : 6/21/2004
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 608755
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54
|
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|
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</span>
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</h3>
|
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</div>
|
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<div>
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<br />
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</div>
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<div>
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<div >
|
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF<br />
|
|
SEN54, YEAST, HOMOLOG OF; SEN54
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: TSEN54</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> 718607001, 718608006;
|
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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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 17q25.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 17:75,516,528-75,524,735 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
17q25.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Pontocerebellar hypoplasia type 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610204
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pontocerebellar hypoplasia type 2A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
277470
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pontocerebellar hypoplasia type 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
225753
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>tRNA splicing is a fundamental process required for cell growth and division. SEN54 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By searching sequence databases using yeast Sen54 as probe, Paushkin et al. (2004) identified SEN54. SEN54 contains 526 amino acids and has a calculated molecular mass of 58 kD. Amino acid conservation between human and yeast SEN54 is restricted to the N- and C-terminal regions. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Paushkin et al. (2004) identified and characterized the human tRNA splicing endonuclease. This enzyme consists of SEN2 (608753), SEN34 (608754), SEN15 (608756), and SEN54, homologs of the yeast tRNA endonuclease subunits. Additionally, an alternatively spliced variant of SEN2 is part of a complex with unique RNA endonuclease activity. Paushkin et al. (2004) found that both human endonuclease complexes are associated with CLP1 (608757), a pre-mRNA 3-prime end processing factor. Small interfering RNA-mediated depletion of SEN2 led to defects in maturation of both pre-tRNA and pre-mRNA. These findings demonstrated a link between pre-tRNA splicing and pre-mRNA 3-prime end formation, suggesting that the endonuclease subunits function in multiple RNA processing events. </p><p>Budde et al. (2008) showed that TSEN54 is highly expressed in neurons of the pons, cerebellar dentate, and olivary nuclei during the second trimester of pregnancy, a determining period for the morphologic development of these structures. Other brain regions showed low or no staining. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Budde et al. (2008) found the TSEN54 gene in a 3.4-cM interval on chromosome 17q25.1 identified by linkage analysis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 42 individuals with pontocerebellar hypoplasia type 2 (PCH2A; 277470), Budde et al. (2008) identified homozygosity for an ala307-to-ser mutation in the TSEN54 gene (A307S; 608755.0001). Budde et al. (2008) also found this mutation in 3 patients with pontocerebellar hypoplasia type 4 (PCH4; 225753); in 1 of these patients, 1 TSEN54 allele carried a ser93-to-pro substitution in addition to the A307S mutation (S93P/A307S; 608755.0002), and in the other 2 patients, compound heterozygosity was found for A307S and a different nonsense mutation. </p><p>Cassandrini et al. (2010) identified a homozygous A307S mutation in 7 affected individuals from 6 unrelated Italian families with PCH2A. Two additional patients had a heterozygous A307S mutation: 1 patient with a PCH2A phenotype in whom the second mutation could not be detected, and another patient with a more severe phenotype (PCH4) who was compound heterozygous for A307S and a truncating mutation (608755.0005). Thus, A307S accounted for 16 (89%) of 18 mutant alleles, and haplotype analysis suggested a founder effect. </p><p>Namavar et al. (2011) identified homozygosity for the common A307S mutation in the TSEN54 gene in 88 (52.1%) of 169 patients with various forms of pontocerebellar hypoplasia. All homozygous mutation carriers had a phenotype consistent with PCH2A. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Namavar et al. (2011) found that patients homozygous for the common TSEN54 missense mutation A307S had a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation had a more severe phenotype consistent with PCH4. Functional studies of TSEN54 variants were not performed. </p><p>In a patient with pontocerebellar hypoplasia type 5 (PCH5; 610204) reported by Patel et al. (2006), Namavar et al. (2011) identified compound heterozygous mutations in the TSEN54 gene: 1 allele carried the common A307S mutation found in patients with the milder phenotype PCH2A, and the other allele carried a putative splice site mutation (608755.0006). Functional studies of the variants were not performed. Namavar et al. (2011) noted the phenotypic similarity to PCH4, which is caused by compound heterozygosity for A307S and different pathogenic TSEN54 mutations. The findings indicated that biallelic TSEN54 mutations can cause a spectrum of clinical manifestations of PCH. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PONTOCEREBELLAR HYPOPLASIA, TYPE 4, INCLUDED<br />
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PONTOCEREBELLAR HYPOPLASIA, TYPE 5, INCLUDED (1 patient)
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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TSEN54, ALA307SER
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<br />
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SNP: rs113994152,
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gnomAD: rs113994152,
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ClinVar: RCV000002201, RCV000002203, RCV000147790, RCV000157630, RCV000157631, RCV000224437, RCV000414963, RCV000415005, RCV000515314, RCV000585824, RCV000623727, RCV000627018, RCV001193388, RCV001255369, RCV001813937, RCV001824557, RCV003153294, RCV003335010, RCV004755700
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 42 individuals with pontocerebellar hypoplasia type 2 (PCH2A; 277470), Budde et al. (2008) identified homozygosity for a 919G-T transversion in the TSEN54 gene, resulting in an ala307-to-ser (A307S) substitution. This mutation is likely due to a single founder event estimated by Budde et al. (2008) to have occurred at least 11 to 16 generations ago. This region of the protein is conserved in mammals and chicken but is not highly conserved in lower organisms. Analysis of 451 Dutch and 279 German control DNA samples yielded no homozygous and only 5 Dutch and 1 German heterozygous genotypes. Additionally, Budde et al. (2008) screened 136 healthy unrelated individuals from Volendam; no homozygous individuals and only 2 heterozygous individuals were identified. Thus, the allele frequency of the 919G-T variant in the PCH2 subjects was 0.884, counting the Volendam subjects as a single data point, and that in the control population was 0.004. These data strongly suggested that the TSEN54 locus is responsible for most cases of PCH2. </p><p>Budde et al. (2008) also found the 919G-T mutation in 3 individuals with pontocerebellar hypoplasia type 4 (PCH4; 225753), in isolation on 3 alleles (with compound heterozygosity in 2; see 608755.0003, 608755.0004) and once in a complex mutation with another missense substitution (608755.0002). </p><p>Cassandrini et al. (2010) identified a homozygous A307S mutation in 7 affected individuals from 6 unrelated Italian families with PCH2A. Two additional patients had a heterozygous A307S mutation: 1 patient with a PCH2A phenotype in whom the second mutation could not be detected, and another patient with a more severe phenotype (PCH4) who was compound heterozygous for A307S and a truncating mutation (608755.0005). Thus, A307S accounted for 16 (89%) of 18 mutant alleles, and haplotype analysis suggested a founder effect. </p><p>In a patient with pontocerebellar hypoplasia type 5 (PCH5; 610204), Namavar et al. (2011) identified compound heterozygosity for the common A307S mutation and a splice site mutation (608755.0006). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TSEN54, ALA307SER/SER93PRO
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<br />
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SNP: rs113994151,
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|
ClinVar: RCV000002201, RCV000002203, RCV000031854, RCV000147790, RCV000157630, RCV000157631, RCV000224437, RCV000414963, RCV000415005, RCV000515314, RCV000585824, RCV000623727, RCV000627018, RCV001193388, RCV001255369, RCV001813937, RCV001824557, RCV002255122, RCV003153294, RCV003335010, RCV004755700
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In an individual with severe infantile pontocerebellar hypoplasia type 4 (PCH4; 225753), Budde et al. (2008) found on one TSEN54 allele a 227T-C transition in addition to the 919G-T mutation (A307S; 608755.0001), and on the other the 919G-T mutation alone. The 227T-C mutation results in a substitution of proline for serine at codon 93 (S93P). While ser93 is not highly conserved, this residue is situated in an antiparallel beta-sheet, and a proline in that position would likely hamper proper folding. </p>
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</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TSEN54, GLN246TER
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|
<br />
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|
|
SNP: rs113994153,
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|
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|
|
|
|
|
ClinVar: RCV000002204, RCV001197352, RCV003555896
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male with infantile lethal pontocerebellar hypoplasia type 4 (PCH4; 225753), previously reported by Barth et al. (2007), Budde et al. (2008) identified compound heterozygosity for the A307S mutation in TSEN54 (608755.0001) and a C-to-T transition at nucleotide 736, resulting in a glutamine-to-stop substitution at codon 246 (Q246X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TSEN54, GLN343TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113994154,
|
|
|
|
|
|
|
|
ClinVar: RCV000002205
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female with infantile lethal pontocerebellar hypoplasia type 4 (PCH4; 225753), Budde et al. (2008) identified compound heterozygosity for the A307S substitution (608755.0001) in TSEN54 and a C-to-T transition at nucleotide 1027, resulting in a glutamine-to-stop codon substitution at codon 343 (Q343X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PONTOCEREBELLAR HYPOPLASIA, TYPE 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TSEN54, 14-BP DEL, NT1170
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs886037629,
|
|
|
|
|
|
|
|
ClinVar: RCV000023730, RCV003556081
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian infant girl with lethal pontocerebellar hypoplasia type 4 (PCH4; 225753), Cassandrini et al. (2010) identified compound heterozygosity for 2 mutations in the TSEN54 gene: a 14-bp deletion (1170_1183del), resulting in a frameshift and premature termination, and the common A307S mutation (608755.0001). She presented at birth with hypertonia, congenital contractures, and seizures, and died at age 1 month. Brain MRI showed marked cerebellar atrophy with a peculiar cavitation in the hemispheres and vermis, and severe hypoplasia of the brainstem. Neuropathologic examination showed reduced volume of the cerebellar cortex with loss of Purkinje cells and loss of the ventral pontine nuclei. However, there was a regular pattern of the 4-layered cortex. There was a fetal pattern in the inferior olivary nuclei. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (1 patient)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TSEN54, IVS5, T-C, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs886037740,
|
|
|
|
|
|
|
|
ClinVar: RCV000157632
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with pontocerebellar hypoplasia type 5 (PCH5; 610204), previously reported by Patel et al. (2006), Namavar et al. (2011) identified compound heterozygous mutations in the TSEN54 gene: a T-to-C transition in intron 5 (c.468+2T-C), predicted to alter a splice site and result in the skipping of exon 5, and the common missense mutation A307S (608755.0001). The splice site variant was not found in 176 control chromosomes. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barth, P. G., Aronica, E., de Vries, L., Nikkels, P. G. J., Scheper, W., Hoozemans, J. J., Poll-The, B.-T., Troost, D.
|
|
<strong>Pontocerebellar hypoplasia type 2: a neuropathological update.</strong>
|
|
Acta Neuropath. 114: 373-386, 2007.
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|
|
[PubMed: 17641900]
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[Full Text: https://doi.org/10.1007/s00401-007-0263-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., and 26 others.
|
|
<strong>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.</strong>
|
|
Nature Genet. 40: 1113-1118, 2008.
|
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|
|
[PubMed: 18711368]
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[Full Text: https://doi.org/10.1038/ng.204]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M., Bertini, E.
|
|
<strong>Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.</strong>
|
|
Neurology 75: 1459-1464, 2010.
|
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|
|
[PubMed: 20956791]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181f88173]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Namavar, Y., Barth, P. G., Kasher, P. R., van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., and 12 others.
|
|
<strong>Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.</strong>
|
|
Brain 134: 143-156, 2011.
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|
|
[PubMed: 20952379]
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[Full Text: https://doi.org/10.1093/brain/awq287]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Namavar, Y., Chitayat, D., Barth, P. G., van Ruissen, F., de Wissel, M. B., Poll-The, B. T., Silver, R., Baas, F.
|
|
<strong>TSEN54 mutations cause pontocerebellar hypoplasia type 5.</strong>
|
|
Europ. J. Hum. Genet. 19: 724-726, 2011.
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|
|
[PubMed: 21368912]
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[Full Text: https://doi.org/10.1038/ejhg.2011.8]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Patel, M. S., Becker, L. E., Toi, A., Armstrong, D. L., Chitayat, D.
|
|
<strong>Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?</strong>
|
|
Am. J. Med. Genet. 140A: 594-603, 2006.
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|
[PubMed: 16470708]
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[Full Text: https://doi.org/10.1002/ajmg.a.31095]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Paushkin, S. V., Patel, M., Furia, B. S., Peltz, S. W., Trotta, C. R.
|
|
<strong>Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3-prime end formation.</strong>
|
|
Cell 117: 311-321, 2004.
|
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|
|
[PubMed: 15109492]
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[Full Text: https://doi.org/10.1016/s0092-8674(04)00342-3]
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Cassandra L. Kniffin - updated : 2/9/2015<br>Cassandra L. Kniffin - updated : 2/2/2011<br>Ada Hamosh - updated : 10/22/2008
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Stylianos E. Antonarakis : 6/21/2004
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carol : 06/11/2024<br>carol : 08/16/2019<br>carol : 02/10/2015<br>mcolton : 2/9/2015<br>ckniffin : 2/9/2015<br>carol : 9/19/2013<br>terry : 4/22/2011<br>wwang : 3/9/2011<br>ckniffin : 2/2/2011<br>terry : 11/19/2008<br>alopez : 11/5/2008<br>alopez : 11/5/2008<br>terry : 10/22/2008<br>mgross : 6/21/2004
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