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Entry
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- *613276 - U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1
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- OMIM
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<p>
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<span class="h4">*613276</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</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/613276">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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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-heading mim-panel-heading" role="tab" id="mimGenome">
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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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</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=ENSG00000103005;t=ENST00000219281" 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=79650" 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=613276" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000103005;t=ENST00000219281" 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_001195302,NM_001204911,NM_001330568,NM_001330569,NM_024598" 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_024598" 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=613276" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=07815&isoform_id=07815_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/USB1" 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/10435046,13325194,13623389,14043592,14603278,18204368,42716283,74732815,119603368,119603369,119603370,194375628,194376888,194381716,194391132,306035177,325995161,1060099169,1060099286" 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/Q9BQ65" 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=79650" 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=ENSG00000103005;t=ENST00000219281" 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=USB1" 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=USB1" 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+79650" 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/USB1" 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:79650" 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/79650" 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=chr16&hgg_gene=ENST00000219281.8&hgg_start=57999603&hgg_end=58021618&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div 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:25792" 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/usb1" 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=613276[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=613276[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/USB1/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/ENSG00000103005" 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=USB1" 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=USB1" 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=USB1" 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=USB1&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/PA143485394" 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:25792" 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/FBgn0037713.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:2142454" 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/USB1#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:2142454" 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/79650/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=79650" 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://zfin.org/ZDB-GENE-040801-197" 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=USB1&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> 772126000<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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613276
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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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U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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U6 snRNA BIOGENESIS PHOSPHODIESTERASE 1<br />
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CHROMOSOME 16 OPEN READING FRAME 57; C16ORF57
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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=USB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">USB1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/496?start=-3&limit=10&highlight=496">16q21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:57999603-58021618&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'})">16:57,999,603-58,021,618</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/496?start=-3&limit=10&highlight=496">
|
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16q21
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Poikiloderma with neutropenia
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/604173"> 604173 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613276" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613276" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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</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="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
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<p>U6 small nuclear RNA (snRNA) (see <a href="/entry/180692">180692</a>) is posttranscriptionally oligouridynylated by TUT1 (<a href="/entry/610641">610641</a>), and the last nucleotide of approximately 90% of U6 snRNA is modified to form a terminal 2-prime,3-prime-cyclic phosphate that is required for stability. USB1 is a phosphodiesterase responsible for U6 snRNA 3-prime end modification (<a href="#7" class="mim-tip-reference" title="Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A. <strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong> Genes Dev. 26: 1911-1925, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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/10.1101/gad.193169.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22899009">Mroczek et al., 2012</a>; <a href="#5" class="mim-tip-reference" title="Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J. <strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong> Blood 121: 1028-1038, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23190533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23190533</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23190533">Hilcenko et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22899009+23190533" 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 for genes in a region of chromosome 16 linked to Clericuzio-type poikiloderma with neutropenia (<a href="/entry/604173">604173</a>), <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> identified USB1, which they called C16ORF57. The deduced 265-amino acid protein contains 5 helical domains and is highly conserved among vertebrates. C16ORF57 was significantly expressed in myeloid lineage cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20004881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A. <strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong> Genes Dev. 26: 1911-1925, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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/10.1101/gad.193169.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22899009">Mroczek et al. (2012)</a> found that fluorescence-tagged human USB1 localized to nuclei of transfected HeLa cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22899009" 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="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> determined that the C16ORF57 gene contains 7 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20004881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> mapped the USB1 gene to chromosome 16q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20004881" 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="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 7/5/2017."None>Hartz (2017)</a> mapped the USB1 gene to chromosome 16q21 based on an alignment of the USB1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK023216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK023216</a>) with the genomic sequence (GRCh38).</p>
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<p>Using 3-dimensional homology modeling, <a href="#7" class="mim-tip-reference" title="Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A. <strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong> Genes Dev. 26: 1911-1925, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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/10.1101/gad.193169.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22899009">Mroczek et al. (2012)</a> determined that USB1 has 2 closely interacting and topologically equivalent repeats, or lobes, with a pseudo-2-fold rotational symmetry. Each lobe has a conserved HxT/S catalytic motif within a V-shaped active-site cleft. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22899009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J. <strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong> Blood 121: 1028-1038, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23190533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23190533</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23190533">Hilcenko et al. (2013)</a> reported the crystal structure of human USB1 at 1.1-angstrom resolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23190533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a genetic screen, <a href="#7" class="mim-tip-reference" title="Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A. <strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong> Genes Dev. 26: 1911-1925, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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/10.1101/gad.193169.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22899009">Mroczek et al. (2012)</a> found that human USB1 complemented loss of Usb1 in yeast, with restored cell growth and splicing of a test pre-mRNA. Addition of U6 snRNA also partially rescued Usb1 deficiency in yeast. Knockdown of USB1 in HeLa cells via small interfering RNA did not alter U6 snRNA levels or significantly affect pre-mRNA splicing, but U6 snRNA molecules became extended with more heterogeneous length compared with controls due to TUT1 3-prime uridylation. Loss of USB1 also modestly decreased U6 snRNA stability. Human USB1 with mutation of his133 or his231 was unable to restore growth in Usb1-deficient yeast or USB1-knockdown HEK293 cells. <a href="#7" class="mim-tip-reference" title="Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A. <strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong> Genes Dev. 26: 1911-1925, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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/10.1101/gad.193169.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22899009">Mroczek et al. (2012)</a> concluded that USB1 catalyzes cleavage of the P-O(5-prime) bond at the 3-prime end of poly(U) in U6 snRNA, resulting in formation of a 2-prime,3-prime-cyclic phosphate and removal of the terminal uridine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22899009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J. <strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong> Blood 121: 1028-1038, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23190533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23190533</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23190533">Hilcenko et al. (2013)</a> found that mutation of the catalytic histidines or deletion of the N-terminal domain of human USB1 abrogated its ability to rescue Usb1 deletion in yeast. They showed that USB1 progressively trimmed 3-prime poly(A) as well as poly(U) in U6 snRNA and generated a 2-prime,3-prime-cyclic phosphate at the 3-prime end of U6 snRNA. USB1 read nucleotide A102 of U6 snRNA as a pause signal and stopped trimming 5 uridines downstream. In lymphoblasts from patients with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>) due to USB1 mutation (see MOLECULAR GENETICS), <a href="#5" class="mim-tip-reference" title="Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J. <strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong> Blood 121: 1028-1038, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23190533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23190533</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23190533">Hilcenko et al. (2013)</a> found that U6 snRNA had aberrant nontemplated 3-prime oligo(A) tails, which are characteristic of nuclear RNA surveillance targets. They concluded that USB1 functions in posttranscriptional 3-prime end processing that protects U6 snRNA from targeted destruction by the nuclear exosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23190533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 affected sibs from a highly consanguineous Italian family with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> identified homozygosity for a splice site mutation in the C16ORF57 gene (<a href="#0001">613276.0001</a>). They also found compound heterozygosity for mutations in C16ORF57 (<a href="#0002">613276.0002</a>-<a href="#0003">613276.0003</a>) in an unrelated Italian female patient who had previously been reported by <a href="#8" class="mim-tip-reference" title="Pianigiani, E., De Aloe, G., Andreassi, A., Rubegni, P., Fimiani, M. <strong>Rothmund-Thomson syndrome (Thomson type) and myelodysplasia.</strong> Pediat. Derm. 18: 422-425, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737690</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2001.01971.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11737690">Pianigiani et al. (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20004881+11737690" 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 consanguineous Moroccan family with PN, <a href="#11" class="mim-tip-reference" title="Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A., McGrath, J. <strong>Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 152A: 1347-1348, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503306</a>] [<a href="https://doi.org/10.1002/ajmg.a.33455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503306">Tanaka et al. (2010)</a> identified a homozygous 1-bp deletion in the C16ORF57 gene (<a href="#0004">613276.0004</a>) that segregated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503306" 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 proband and his cousin with PN, <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Itin, P. H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C. <strong>Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.</strong> Brit. J. Derm. 163: 866-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618321</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09929.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20618321">Arnold et al. (2010)</a> identified a homozygous nonsense mutation in the C16ORF57 gene (W81X; <a href="#0005">613276.0005</a>). Both sets of parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20618321" 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 11 patients from 8 kindreds with PN, including 4 families of Athabaskan ancestry, <a href="#2" class="mim-tip-reference" title="Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L. <strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 155A: 337-342, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21271650[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/10.1002/ajmg.a.33807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271650">Clericuzio et al. (2011)</a> identified homozygous and compound heterozygous mutations in the C16ORF57 gene (see, e.g., <a href="#0006">613276.0006</a>-<a href="#0008">613276.0008</a>). All patients in the Athabaskan families (Navajo or Apache) carried the same deletion (c.496delA; <a href="#0006">613276.0006</a>), suggesting that it represents a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21271650" 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 PN, <a href="#10" class="mim-tip-reference" title="Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S. <strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong> Molec. Genet. Genomic Med. 4: 359-366, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27247962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27247962</a>] [<a href="https://doi.org/10.1002/mgg3.209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27247962">Suter et al. (2016)</a> identified homozygosity for a frameshift mutation in the USB1 gene (<a href="#0009">613276.0009</a>). No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By sequencing of the USB1 gene in 3 unrelated patients with PN, <a href="#3" class="mim-tip-reference" title="Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L. <strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong> J. Clin. Immun. 38: 494-502, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>] [<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29770900">Colombo et al. (2018)</a> identified homozygous or compound heterozygous mutations in the USB1 gene (<a href="#0002">613276.0002</a>; <a href="#0005">613276.0005</a>; <a href="#0010">613276.0010</a>-<a href="#0011">613276.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" 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 Serbian patient with PN, <a href="#9" class="mim-tip-reference" title="Piccolo, V., Russo, T., Di Pinto, D., Pota, E., Di Martino, M., Piluso, G., Ronchi, A., Argenziano, G., Di Brizzi, E. V., Santoro, C. <strong>Poikiloderma with neutropenia and mastocytosis: a case report and a review of dermatological signs.</strong> Front. Med. (Lausanne) 8: 680363, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34179048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34179048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34179048[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/10.3389/fmed.2021.680363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34179048">Piccolo et al. (2021)</a> identified homozygosity for the previously identified nonsense mutation (W81X; <a href="#0011">613276.0011</a>) in the USB1 gene. The mutation, which was identified by trio whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34179048" 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=613276[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In 3 affected sibs from a highly consanguineous Italian family with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> identified homozygosity for a 504-2A-C transversion at the splice acceptor site in intron 4 of the C16ORF57 gene. Subsequent cDNA analysis in an affected sib revealed an aberrant transcript that was 106 nucleotides shorter than normal due to skipping of exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20004881" 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 an Italian female patient with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>), who had previously been reported by <a href="#8" class="mim-tip-reference" title="Pianigiani, E., De Aloe, G., Andreassi, A., Rubegni, P., Fimiani, M. <strong>Rothmund-Thomson syndrome (Thomson type) and myelodysplasia.</strong> Pediat. Derm. 18: 422-425, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737690</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2001.01971.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11737690">Pianigiani et al. (2001)</a>, <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> identified compound heterozygosity for a paternally inherited 12-bp deletion (683_693+1del12) in exon 6 of the C16ORF57 gene and a maternally inherited 502A-G transition in exon 4 at a highly conserved R168 residue (<a href="#0003">613276.0003</a>) within the HVSL domain. The missense mutation was not found in 175 matched controls. Analysis of the patient's cDNA revealed 2 aberrant transcripts, with in-frame skipping of exons 6 (paternal allele) and 4 (maternal allele). <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a> corrected the numbering of the 12-bp deletion from 666_675+1del12 to 683_693+1del12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20004881+11737690" 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 6-year-old Italian boy (patient 49) with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#3" class="mim-tip-reference" title="Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L. <strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong> J. Clin. Immun. 38: 494-502, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>] [<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29770900">Colombo et al. (2018)</a> identified homozygosity for the c.683_693+1del mutation (c.683_693+1del, NM_024598.2) in the USB1 gene. The mutation was identified by sequencing of the USB1 gene, and the parents were shown to be mutation carriers. Transcript analysis in patient lymphocytes demonstrated a single aberrant transcript lacking exon 6 of the USB1 gene, predicted to result in Asp204_Gln231del, leading to loss of the second His-Leu-Ser-Leu domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" 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>For discussion of the 502A-G transition in exon 4 of the C16ORF57 gene that was found in compound heterozygous state in a patient with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>) by <a href="#12" class="mim-tip-reference" title="Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L. <strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong> Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20004881">Volpi et al. (2010)</a>, see <a href="#0002">613276.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20004881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205051 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205051;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=rs786205051" 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=rs786205051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected sibs from a consanguineous Moroccan family with poikiloderma and neutropenia (PN; <a href="/entry/604173">604173</a>), previously studied by <a href="#6" class="mim-tip-reference" title="Mostefai, R., Morice-Picard, F., Boralevi, F., Sautarel, M., Lacombe, D., Stasia, M. J., McGrath, J., Taieb, A. <strong>Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.</strong> Am. J. Med. Genet. 146A: 2762-2769, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925663</a>] [<a href="https://doi.org/10.1002/ajmg.a.32524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18925663">Mostefai et al. (2008)</a>, <a href="#11" class="mim-tip-reference" title="Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A., McGrath, J. <strong>Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 152A: 1347-1348, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503306</a>] [<a href="https://doi.org/10.1002/ajmg.a.33455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20503306">Tanaka et al. (2010)</a> identified homozygosity for a 1-bp deletion (179delC) in the C16ORF57 gene, predicted to cause a frameshift and premature termination (Pro60fsTer54). The unaffected parents were heterozygous for the mutation, which was not found in an unaffected sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20503306+18925663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853973 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853973;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/rs137853973?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=rs137853973" 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=rs137853973" 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 8-year-old proband and his cousin with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Itin, P. H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C. <strong>Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.</strong> Brit. J. Derm. 163: 866-869, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618321</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2010.09929.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20618321">Arnold et al. (2010)</a> identified a homozygous c.243G-A transition in the C16ORF57 gene, resulting in a trp81-to-ter (W81X; <a href="#0005">613276.0005</a>) substitution. Both sets of parents were heterozygous for the mutation. No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20618321" 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 PN, who had a diagnosis of Rothmund-Thomson syndrome (see <a href="/entry/268400">268400</a>), <a href="#13" class="mim-tip-reference" title="Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., Dokal, I. <strong>Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.</strong> Hum. Molec. Genet. 19: 4453-4461, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817924</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20817924[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20817924">Walne et al. (2010)</a> identified homozygosity for the W81X mutation in the C16ORF57 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20817924" 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 36-year-old Italian man (patient 48) with PN, <a href="#3" class="mim-tip-reference" title="Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L. <strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong> J. Clin. Immun. 38: 494-502, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>] [<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29770900">Colombo et al. (2018)</a> identified compound heterozygosity for 2 mutations in the USB1 gene: W81X and a c.541C-T transition in exon 5, resulting in a gln181-to-ter (Q181X; <a href="#0011">613276.0011</a>) substitution. The mutation was identified by USB1 gene sequencing, and the parents were shown to be mutation carriers. Transcript analysis in patient lymphocytes demonstrated that there were reduced transcripts from each USB1 allele, indicating partial escape from nonsense mediated decay, potentially leading to an aberrant truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" 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=RCV000598668 OR RCV003688862" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000598668, RCV003688862" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000598668...</a>
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<p>In 4 patients with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>) from 3 families of Athabaskan descent, <a href="#2" class="mim-tip-reference" title="Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L. <strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 155A: 337-342, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21271650[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/10.1002/ajmg.a.33807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271650">Clericuzio et al. (2011)</a> identified homozygosity for a 1-bp deletion (c.496delA) in the C16ORF57 gene, resulting in a frameshift. In a patient of Athabaskan and Caucasian parents, <a href="#2" class="mim-tip-reference" title="Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L. <strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 155A: 337-342, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21271650[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/10.1002/ajmg.a.33807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271650">Clericuzio et al. (2011)</a> identified compound heterozygosity for the c.496delA mutation and a 4-bp deletion (c.489_492del4; <a href="#0006">613276.0006</a>). No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21271650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 POIKILODERMA WITH NEUTROPENIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs777667891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs777667891;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/rs777667891?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=rs777667891" 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=rs777667891" 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=RCV000598593 OR RCV001853992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000598593, RCV001853992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000598593...</a>
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<p>For discussion of the 4-bp deletion (c.489_492del4) in the C16ORF57 gene that was found in compound heterozygous state in a patient with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>), see <a href="#0005">613276.0005</a>.</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555498092 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555498092;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=rs1555498092" 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=rs1555498092" 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=RCV000599282 OR RCV001384478" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000599282, RCV001384478" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000599282...</a>
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<p>In affected members of 2 Asian Indian families with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#2" class="mim-tip-reference" title="Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L. <strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong> Am. J. Med. Genet. 155A: 337-342, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21271650[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/10.1002/ajmg.a.33807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21271650">Clericuzio et al. (2011)</a> identified homozygosity for a splice site mutation in intron 2 (c.266-1G-A) in the C16ORF57 gene. No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21271650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 POIKILODERMA WITH NEUTROPENIA</strong>
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USB1, 1-BP DUP, 334C
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001786321" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001786321" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001786321</a>
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<p>In a patient with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#10" class="mim-tip-reference" title="Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S. <strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong> Molec. Genet. Genomic Med. 4: 359-366, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27247962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27247962</a>] [<a href="https://doi.org/10.1002/mgg3.209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27247962">Suter et al. (2016)</a> identified homozygosity for a frameshift mutation in exon 3 of the USB1 gene (c.334_335dupC, NM_024598.3), resulting in a frameshift and premature termination (Arg112ProfsTer31). No functional studies were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 POIKILODERMA WITH NEUTROPENIA</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">rs1555498565 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555498565;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=rs1555498565" 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=rs1555498565" 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=RCV000598696" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000598696" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000598696</a>
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<p>In a Turkish boy (patient 32) with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>), <a href="#3" class="mim-tip-reference" title="Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L. <strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong> J. Clin. Immun. 38: 494-502, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>] [<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29770900">Colombo et al. (2018)</a> identified homozygosity for a 1-bp deletion (c.531delA, NM_024598.2) in exon 5 of the USB1 gene, predicted to result in a frameshift (His179fsTer86) with the same amino acid length as the wildtype protein but with a different composition of the last 85 residues at the C terminus. The mutation was identified by USB1 gene sequencing, and the parents were shown to be mutation carriers. The mutation was predicted to lead to loss of a tetrapeptide motif and affect the 2H active site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 POIKILODERMA WITH NEUTROPENIA</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">rs1555498573 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555498573;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=rs1555498573" 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=rs1555498573" 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=RCV000599164" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000599164" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000599164</a>
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<p>For discussion of the c.541C-T transition (c.541C-T, NM_024598.2) in exon 5 of the USB1 gene, resulting in a gln181-to-ter (Q181X) substitution, that was found in compound heterozygous state in a patient with poikiloderma with neutropenia (PN; <a href="/entry/604173">604173</a>) by <a href="#3" class="mim-tip-reference" title="Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L. <strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong> J. Clin. Immun. 38: 494-502, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>] [<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29770900">Colombo et al. (2018)</a>, see <a href="#0005">613276.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" 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 Serbian patient with PN, <a href="#9" class="mim-tip-reference" title="Piccolo, V., Russo, T., Di Pinto, D., Pota, E., Di Martino, M., Piluso, G., Ronchi, A., Argenziano, G., Di Brizzi, E. V., Santoro, C. <strong>Poikiloderma with neutropenia and mastocytosis: a case report and a review of dermatological signs.</strong> Front. Med. (Lausanne) 8: 680363, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34179048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34179048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34179048[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/10.3389/fmed.2021.680363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34179048">Piccolo et al. (2021)</a> identified homozygosity for W81X in the USB1 gene. The mutation, which was identified by trio whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34179048" 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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<li>
|
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<a id="1" class="mim-anchor"></a>
|
|
<a id="Arnold2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arnold, A. W., Itin, P. H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C.
|
|
<strong>Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.</strong>
|
|
Brit. J. Derm. 163: 866-869, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20618321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20618321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20618321" 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/10.1111/j.1365-2133.2010.09929.x" target="_blank">Full Text</a>]
|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Clericuzio2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L.
|
|
<strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong>
|
|
Am. J. Med. Genet. 155A: 337-342, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21271650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21271650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21271650[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=21271650" 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.33807" target="_blank">Full Text</a>]
|
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|
|
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|
|
<a id="Colombo2018" class="mim-anchor"></a>
|
|
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|
|
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|
|
Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L.
|
|
<strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong>
|
|
J. Clin. Immun. 38: 494-502, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29770900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29770900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29770900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10875-018-0508-9" target="_blank">Full Text</a>]
|
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|
|
</li>
|
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|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Hartz2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/5/2017.
|
|
|
|
|
|
|
|
|
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|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Hilcenko2013" class="mim-anchor"></a>
|
|
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|
|
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|
|
Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J.
|
|
<strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong>
|
|
Blood 121: 1028-1038, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23190533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23190533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23190533" 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/10.1182/blood-2012-10-461491" target="_blank">Full Text</a>]
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|
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|
<a id="6" class="mim-anchor"></a>
|
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<a id="Mostefai2008" class="mim-anchor"></a>
|
|
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|
|
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|
|
Mostefai, R., Morice-Picard, F., Boralevi, F., Sautarel, M., Lacombe, D., Stasia, M. J., McGrath, J., Taieb, A.
|
|
<strong>Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.</strong>
|
|
Am. J. Med. Genet. 146A: 2762-2769, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925663" 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/10.1002/ajmg.a.32524" target="_blank">Full Text</a>]
|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
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<a id="Mroczek2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A.
|
|
<strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong>
|
|
Genes Dev. 26: 1911-1925, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22899009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22899009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22899009[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=22899009" 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/10.1101/gad.193169.112" target="_blank">Full Text</a>]
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|
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|
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</li>
|
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<li>
|
|
<a id="8" class="mim-anchor"></a>
|
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<a id="Pianigiani2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pianigiani, E., De Aloe, G., Andreassi, A., Rubegni, P., Fimiani, M.
|
|
<strong>Rothmund-Thomson syndrome (Thomson type) and myelodysplasia.</strong>
|
|
Pediat. Derm. 18: 422-425, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11737690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1525-1470.2001.01971.x" target="_blank">Full Text</a>]
|
|
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
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<a id="Piccolo2021" class="mim-anchor"></a>
|
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Piccolo, V., Russo, T., Di Pinto, D., Pota, E., Di Martino, M., Piluso, G., Ronchi, A., Argenziano, G., Di Brizzi, E. V., Santoro, C.
|
|
<strong>Poikiloderma with neutropenia and mastocytosis: a case report and a review of dermatological signs.</strong>
|
|
Front. Med. (Lausanne) 8: 680363, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34179048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34179048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34179048[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=34179048" 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/10.3389/fmed.2021.680363" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
|
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<a id="Suter2016" class="mim-anchor"></a>
|
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|
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Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S.
|
|
<strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong>
|
|
Molec. Genet. Genomic Med. 4: 359-366, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27247962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27247962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" 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/mgg3.209" target="_blank">Full Text</a>]
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<li>
|
|
<a id="11" class="mim-anchor"></a>
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<a id="Tanaka2010" class="mim-anchor"></a>
|
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|
|
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|
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Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A., McGrath, J.
|
|
<strong>Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.</strong>
|
|
Am. J. Med. Genet. 152A: 1347-1348, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503306" 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.33455" target="_blank">Full Text</a>]
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|
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<a id="12" class="mim-anchor"></a>
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|
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Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L.
|
|
<strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong>
|
|
Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20004881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20004881</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20004881[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=20004881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.11.014" target="_blank">Full Text</a>]
|
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<a id="13" class="mim-anchor"></a>
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<a id="Walne2010" class="mim-anchor"></a>
|
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<div class="">
|
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|
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Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., Dokal, I.
|
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<strong>Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.</strong>
|
|
Hum. Molec. Genet. 19: 4453-4461, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817924</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20817924[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=20817924" 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/hmg/ddq371" target="_blank">Full Text</a>]
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</ol>
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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 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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Hilary J. Vernon - updated : 12/20/2021
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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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Carol A. Bocchini - updated : 10/20/2021<br>Patricia A. Hartz - updated : 07/05/2017<br>Marla J. F. O'Neill - updated : 12/16/2010<br>Marla J. F. O'Neill - updated : 2/26/2010
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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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Patricia A. Hartz : 2/23/2010
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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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alopez : 04/29/2024
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</span>
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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 : 12/21/2021<br>carol : 12/20/2021<br>carol : 11/29/2021<br>carol : 11/24/2021<br>carol : 10/21/2021<br>carol : 10/20/2021<br>mgross : 07/05/2017<br>mgross : 07/05/2017<br>carol : 05/08/2015<br>mcolton : 5/5/2015<br>carol : 9/12/2013<br>alopez : 12/17/2010<br>terry : 12/16/2010<br>wwang : 10/22/2010<br>carol : 2/26/2010<br>mgross : 2/23/2010
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</span>
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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> 613276
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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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U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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U6 snRNA BIOGENESIS PHOSPHODIESTERASE 1<br />
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CHROMOSOME 16 OPEN READING FRAME 57; C16ORF57
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: USB1</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> 772126000;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q21
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:57,999,603-58,021,618 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16q21
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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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Poikiloderma with neutropenia
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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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604173
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>U6 small nuclear RNA (snRNA) (see 180692) is posttranscriptionally oligouridynylated by TUT1 (610641), and the last nucleotide of approximately 90% of U6 snRNA is modified to form a terminal 2-prime,3-prime-cyclic phosphate that is required for stability. USB1 is a phosphodiesterase responsible for U6 snRNA 3-prime end modification (Mroczek et al., 2012; Hilcenko et al., 2013). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching for genes in a region of chromosome 16 linked to Clericuzio-type poikiloderma with neutropenia (604173), Volpi et al. (2010) identified USB1, which they called C16ORF57. The deduced 265-amino acid protein contains 5 helical domains and is highly conserved among vertebrates. C16ORF57 was significantly expressed in myeloid lineage cells. </p><p>Mroczek et al. (2012) found that fluorescence-tagged human USB1 localized to nuclei of transfected HeLa cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Volpi et al. (2010) determined that the C16ORF57 gene contains 7 exons. </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>By genomic sequence analysis, Volpi et al. (2010) mapped the USB1 gene to chromosome 16q13. </p><p>Hartz (2017) mapped the USB1 gene to chromosome 16q21 based on an alignment of the USB1 sequence (GenBank AK023216) with the genomic sequence (GRCh38).</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>Biochemical Features</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>Using 3-dimensional homology modeling, Mroczek et al. (2012) determined that USB1 has 2 closely interacting and topologically equivalent repeats, or lobes, with a pseudo-2-fold rotational symmetry. Each lobe has a conserved HxT/S catalytic motif within a V-shaped active-site cleft. </p><p>Hilcenko et al. (2013) reported the crystal structure of human USB1 at 1.1-angstrom resolution. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</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>Using a genetic screen, Mroczek et al. (2012) found that human USB1 complemented loss of Usb1 in yeast, with restored cell growth and splicing of a test pre-mRNA. Addition of U6 snRNA also partially rescued Usb1 deficiency in yeast. Knockdown of USB1 in HeLa cells via small interfering RNA did not alter U6 snRNA levels or significantly affect pre-mRNA splicing, but U6 snRNA molecules became extended with more heterogeneous length compared with controls due to TUT1 3-prime uridylation. Loss of USB1 also modestly decreased U6 snRNA stability. Human USB1 with mutation of his133 or his231 was unable to restore growth in Usb1-deficient yeast or USB1-knockdown HEK293 cells. Mroczek et al. (2012) concluded that USB1 catalyzes cleavage of the P-O(5-prime) bond at the 3-prime end of poly(U) in U6 snRNA, resulting in formation of a 2-prime,3-prime-cyclic phosphate and removal of the terminal uridine. </p><p>Hilcenko et al. (2013) found that mutation of the catalytic histidines or deletion of the N-terminal domain of human USB1 abrogated its ability to rescue Usb1 deletion in yeast. They showed that USB1 progressively trimmed 3-prime poly(A) as well as poly(U) in U6 snRNA and generated a 2-prime,3-prime-cyclic phosphate at the 3-prime end of U6 snRNA. USB1 read nucleotide A102 of U6 snRNA as a pause signal and stopped trimming 5 uridines downstream. In lymphoblasts from patients with poikiloderma with neutropenia (PN; 604173) due to USB1 mutation (see MOLECULAR GENETICS), Hilcenko et al. (2013) found that U6 snRNA had aberrant nontemplated 3-prime oligo(A) tails, which are characteristic of nuclear RNA surveillance targets. They concluded that USB1 functions in posttranscriptional 3-prime end processing that protects U6 snRNA from targeted destruction by the nuclear exosome. </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>
|
|
</span>
|
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</h4>
|
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</div>
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|
<span class="mim-text-font">
|
|
<p>In 3 affected sibs from a highly consanguineous Italian family with poikiloderma and neutropenia (PN; 604173), Volpi et al. (2010) identified homozygosity for a splice site mutation in the C16ORF57 gene (613276.0001). They also found compound heterozygosity for mutations in C16ORF57 (613276.0002-613276.0003) in an unrelated Italian female patient who had previously been reported by Pianigiani et al. (2001). </p><p>In a consanguineous Moroccan family with PN, Tanaka et al. (2010) identified a homozygous 1-bp deletion in the C16ORF57 gene (613276.0004) that segregated with the disorder. </p><p>In a proband and his cousin with PN, Arnold et al. (2010) identified a homozygous nonsense mutation in the C16ORF57 gene (W81X; 613276.0005). Both sets of parents were heterozygous for the mutation. </p><p>In 11 patients from 8 kindreds with PN, including 4 families of Athabaskan ancestry, Clericuzio et al. (2011) identified homozygous and compound heterozygous mutations in the C16ORF57 gene (see, e.g., 613276.0006-613276.0008). All patients in the Athabaskan families (Navajo or Apache) carried the same deletion (c.496delA; 613276.0006), suggesting that it represents a founder mutation. </p><p>In a patient with PN, Suter et al. (2016) identified homozygosity for a frameshift mutation in the USB1 gene (613276.0009). No functional studies were reported. </p><p>By sequencing of the USB1 gene in 3 unrelated patients with PN, Colombo et al. (2018) identified homozygous or compound heterozygous mutations in the USB1 gene (613276.0002; 613276.0005; 613276.0010-613276.0011). </p><p>In a Serbian patient with PN, Piccolo et al. (2021) identified homozygosity for the previously identified nonsense mutation (W81X; 613276.0011) in the USB1 gene. The mutation, which was identified by trio whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>11 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 POIKILODERMA WITH NEUTROPENIA</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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USB1, IVS4AS, A-C, -1
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<br />
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SNP: rs137853970,
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ClinVar: RCV000000224
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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 3 affected sibs from a highly consanguineous Italian family with poikiloderma and neutropenia (PN; 604173), Volpi et al. (2010) identified homozygosity for a 504-2A-C transversion at the splice acceptor site in intron 4 of the C16ORF57 gene. Subsequent cDNA analysis in an affected sib revealed an aberrant transcript that was 106 nucleotides shorter than normal due to skipping of exon 5. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 POIKILODERMA WITH NEUTROPENIA</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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USB1, 12-BP DEL, NT683
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<br />
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SNP: rs137853972,
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ClinVar: RCV000000225
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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 an Italian female patient with poikiloderma and neutropenia (PN; 604173), who had previously been reported by Pianigiani et al. (2001), Volpi et al. (2010) identified compound heterozygosity for a paternally inherited 12-bp deletion (683_693+1del12) in exon 6 of the C16ORF57 gene and a maternally inherited 502A-G transition in exon 4 at a highly conserved R168 residue (613276.0003) within the HVSL domain. The missense mutation was not found in 175 matched controls. Analysis of the patient's cDNA revealed 2 aberrant transcripts, with in-frame skipping of exons 6 (paternal allele) and 4 (maternal allele). Volpi et al. (2010) corrected the numbering of the 12-bp deletion from 666_675+1del12 to 683_693+1del12. </p><p>In a 6-year-old Italian boy (patient 49) with poikiloderma and neutropenia (PN; 604173), Colombo et al. (2018) identified homozygosity for the c.683_693+1del mutation (c.683_693+1del, NM_024598.2) in the USB1 gene. The mutation was identified by sequencing of the USB1 gene, and the parents were shown to be mutation carriers. Transcript analysis in patient lymphocytes demonstrated a single aberrant transcript lacking exon 6 of the USB1 gene, predicted to result in Asp204_Gln231del, leading to loss of the second His-Leu-Ser-Leu domain of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 POIKILODERMA WITH NEUTROPENIA</strong>
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|
</span>
|
|
</h4>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
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USB1, EX4, 502A-G
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|
<br />
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SNP: rs137853971,
|
|
|
|
|
|
|
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ClinVar: RCV000000226
|
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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>For discussion of the 502A-G transition in exon 4 of the C16ORF57 gene that was found in compound heterozygous state in a patient with poikiloderma and neutropenia (PN; 604173) by Volpi et al. (2010), see 613276.0002. </p>
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</span>
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</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 POIKILODERMA WITH NEUTROPENIA</strong>
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|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
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|
USB1, 1-BP DEL, 179C
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<br />
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|
|
|
SNP: rs786205051,
|
|
|
|
|
|
|
|
ClinVar: RCV000000227
|
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|
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|
|
</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
<p>In 3 affected sibs from a consanguineous Moroccan family with poikiloderma and neutropenia (PN; 604173), previously studied by Mostefai et al. (2008), Tanaka et al. (2010) identified homozygosity for a 1-bp deletion (179delC) in the C16ORF57 gene, predicted to cause a frameshift and premature termination (Pro60fsTer54). The unaffected parents were heterozygous for the mutation, which was not found in an unaffected sister. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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|
|
|
USB1, TRP81TER
|
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|
<br />
|
|
|
|
SNP: rs137853973,
|
|
|
|
|
|
gnomAD: rs137853973,
|
|
|
|
|
|
ClinVar: RCV000144431
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old proband and his cousin with poikiloderma with neutropenia (PN; 604173), Arnold et al. (2010) identified a homozygous c.243G-A transition in the C16ORF57 gene, resulting in a trp81-to-ter (W81X; 613276.0005) substitution. Both sets of parents were heterozygous for the mutation. No functional studies were reported. </p><p>In a patient with PN, who had a diagnosis of Rothmund-Thomson syndrome (see 268400), Walne et al. (2010) identified homozygosity for the W81X mutation in the C16ORF57 gene. </p><p>In a 36-year-old Italian man (patient 48) with PN, Colombo et al. (2018) identified compound heterozygosity for 2 mutations in the USB1 gene: W81X and a c.541C-T transition in exon 5, resulting in a gln181-to-ter (Q181X; 613276.0011) substitution. The mutation was identified by USB1 gene sequencing, and the parents were shown to be mutation carriers. Transcript analysis in patient lymphocytes demonstrated that there were reduced transcripts from each USB1 allele, indicating partial escape from nonsense mediated decay, potentially leading to an aberrant truncated protein. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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|
|
|
USB1, 1-BP DEL, 496A
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|
|
<br />
|
|
|
|
SNP: rs1555498399,
|
|
|
|
|
|
|
|
ClinVar: RCV000598668, RCV003688862
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 patients with poikiloderma with neutropenia (PN; 604173) from 3 families of Athabaskan descent, Clericuzio et al. (2011) identified homozygosity for a 1-bp deletion (c.496delA) in the C16ORF57 gene, resulting in a frameshift. In a patient of Athabaskan and Caucasian parents, Clericuzio et al. (2011) identified compound heterozygosity for the c.496delA mutation and a 4-bp deletion (c.489_492del4; 613276.0006). No functional studies were reported. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USB1, 4-BP DEL, NT489
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs777667891,
|
|
|
|
|
|
gnomAD: rs777667891,
|
|
|
|
|
|
ClinVar: RCV000598593, RCV001853992
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 4-bp deletion (c.489_492del4) in the C16ORF57 gene that was found in compound heterozygous state in a patient with poikiloderma with neutropenia (PN; 604173), see 613276.0005.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USB1, IVS2AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555498092,
|
|
|
|
|
|
|
|
ClinVar: RCV000599282, RCV001384478
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 Asian Indian families with poikiloderma with neutropenia (PN; 604173), Clericuzio et al. (2011) identified homozygosity for a splice site mutation in intron 2 (c.266-1G-A) in the C16ORF57 gene. No functional studies were reported. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USB1, 1-BP DUP, 334C
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001786321
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with poikiloderma with neutropenia (PN; 604173), Suter et al. (2016) identified homozygosity for a frameshift mutation in exon 3 of the USB1 gene (c.334_335dupC, NM_024598.3), resulting in a frameshift and premature termination (Arg112ProfsTer31). No functional studies were reported. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USB1, 1-BP DEL, 531A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555498565,
|
|
|
|
|
|
|
|
ClinVar: RCV000598696
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish boy (patient 32) with poikiloderma with neutropenia (PN; 604173), Colombo et al. (2018) identified homozygosity for a 1-bp deletion (c.531delA, NM_024598.2) in exon 5 of the USB1 gene, predicted to result in a frameshift (His179fsTer86) with the same amino acid length as the wildtype protein but with a different composition of the last 85 residues at the C terminus. The mutation was identified by USB1 gene sequencing, and the parents were shown to be mutation carriers. The mutation was predicted to lead to loss of a tetrapeptide motif and affect the 2H active site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 POIKILODERMA WITH NEUTROPENIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
USB1, GLN181TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555498573,
|
|
|
|
|
|
|
|
ClinVar: RCV000599164
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.541C-T transition (c.541C-T, NM_024598.2) in exon 5 of the USB1 gene, resulting in a gln181-to-ter (Q181X) substitution, that was found in compound heterozygous state in a patient with poikiloderma with neutropenia (PN; 604173) by Colombo et al. (2018), see 613276.0005. </p><p>In a Serbian patient with PN, Piccolo et al. (2021) identified homozygosity for W81X in the USB1 gene. The mutation, which was identified by trio whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnold, A. W., Itin, P. H., Pigors, M., Kohlhase, J., Bruckner-Tuderman, L., Has, C.
|
|
<strong>Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.</strong>
|
|
Brit. J. Derm. 163: 866-869, 2010.
|
|
|
|
|
|
[PubMed: 20618321]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.2010.09929.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clericuzio, C., Harutyunyan, K., Jin, W., Erickson, R. P., Irvine, A. D., McLean, W. H. I., Wen, Y., Bagatell, R., Griffin, T. A., Shwayder, T. A., Plon, S. E., Wang, L. L.
|
|
<strong>Identification of a novel C16ORF57 mutation in Athabaskan patients with poikiloderma with neutropenia.</strong>
|
|
Am. J. Med. Genet. 155A: 337-342, 2011.
|
|
|
|
|
|
[PubMed: 21271650]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33807]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Colombo, E. A., Elcioglu, N. H., Graziano, C., Farinelli, P., Di Fede, E., Neri, I., Facchini, E. Greco, M., Gervasini, C., Larizza, L.
|
|
<strong>Insights into mutation effect in three poikiloderma with neutropenia patients by transcript analysis and disease evolution of reported patients with the same pathogenic variants.</strong>
|
|
J. Clin. Immun. 38: 494-502, 2018.
|
|
|
|
|
|
[PubMed: 29770900]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10875-018-0508-9]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/5/2017.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hilcenko, C., Simpson, P. J., Finch, A. J., Bowler, F. R., Churcher, M. J., Jin, L., Packman, L. C., Shlien, A., Campbell, P., Kirwan, M., Dokal, I., Warren, A. J.
|
|
<strong>Aberrant 3-prime oligodenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.</strong>
|
|
Blood 121: 1028-1038, 2013.
|
|
|
|
|
|
[PubMed: 23190533]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2012-10-461491]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mostefai, R., Morice-Picard, F., Boralevi, F., Sautarel, M., Lacombe, D., Stasia, M. J., McGrath, J., Taieb, A.
|
|
<strong>Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.</strong>
|
|
Am. J. Med. Genet. 146A: 2762-2769, 2008.
|
|
|
|
|
|
[PubMed: 18925663]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32524]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mroczek, S., Krwawicz, J., Kutner, J., Lazniewski, M., Kucinski, I., Ginalski, K., Dziembowski, A.
|
|
<strong>C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3-prime end modification.</strong>
|
|
Genes Dev. 26: 1911-1925, 2012.
|
|
|
|
|
|
[PubMed: 22899009]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gad.193169.112]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pianigiani, E., De Aloe, G., Andreassi, A., Rubegni, P., Fimiani, M.
|
|
<strong>Rothmund-Thomson syndrome (Thomson type) and myelodysplasia.</strong>
|
|
Pediat. Derm. 18: 422-425, 2001.
|
|
|
|
|
|
[PubMed: 11737690]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1525-1470.2001.01971.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Piccolo, V., Russo, T., Di Pinto, D., Pota, E., Di Martino, M., Piluso, G., Ronchi, A., Argenziano, G., Di Brizzi, E. V., Santoro, C.
|
|
<strong>Poikiloderma with neutropenia and mastocytosis: a case report and a review of dermatological signs.</strong>
|
|
Front. Med. (Lausanne) 8: 680363, 2021.
|
|
|
|
|
|
[PubMed: 34179048]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3389/fmed.2021.680363]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S.
|
|
<strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong>
|
|
Molec. Genet. Genomic Med. 4: 359-366, 2016.
|
|
|
|
|
|
[PubMed: 27247962]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/mgg3.209]
|
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
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<p class="mim-text-font">
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Tanaka, A., Morice-Picard, F., Lacombe, D., Nagy, N., Hide, M., Taieb, A., McGrath, J.
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<strong>Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.</strong>
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Am. J. Med. Genet. 152A: 1347-1348, 2010.
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[PubMed: 20503306]
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[Full Text: https://doi.org/10.1002/ajmg.a.33455]
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Volpi, L., Roversi, G., Colombo, E. A., Leijsten, N., Concolino, D., Calabria, A., Mencarelli, M. A., Fimiani, M., Macciardi, F., Pfundt, R., Schoenmakers, E. F. P. M., Larizza, L.
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<strong>Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene.</strong>
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Am. J. Hum. Genet. 86: 72-76, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 445 only, 2010.
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[PubMed: 20004881]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.11.014]
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Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., Dokal, I.
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<strong>Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.</strong>
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Hum. Molec. Genet. 19: 4453-4461, 2010.
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[PubMed: 20817924]
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[Full Text: https://doi.org/10.1093/hmg/ddq371]
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Hilary J. Vernon - updated : 12/20/2021<br>Carol A. Bocchini - updated : 10/20/2021<br>Patricia A. Hartz - updated : 07/05/2017<br>Marla J. F. O'Neill - updated : 12/16/2010<br>Marla J. F. O'Neill - updated : 2/26/2010
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