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Entry
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- *606471 - NOP10 RIBONUCLEOPROTEIN; NOP10
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- OMIM
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<p>
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<span class="h4">*606471</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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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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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<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/606471">Table View</a>
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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>
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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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000182117;t=ENST00000328848" 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=55505" 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=606471" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000182117;t=ENST00000328848" 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_018648" 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_018648" 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=606471" 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=07571&isoform_id=07571_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/NOP10" 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/8096260,8096476,8923942,14424489,38614451,54036209,119612709,259704153,300590707" 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/Q9NPE3" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55505" 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=ENSG00000182117;t=ENST00000328848" 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=NOP10" 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=NOP10" 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+55505" 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/NOP10" 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:55505" 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/55505" 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=chr15&hgg_gene=ENST00000328848.6&hgg_start=34341719&hgg_end=34343136&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</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:14378" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606471[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=606471[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://gnomad.broadinstitute.org/gene/ENSG00000182117" 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.gwascentral.org/search?q=NOP10" 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=NOP10" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://telomerase.asu.edu/diseases.html#nola3" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NOP10&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/PA164723973" 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:14378" 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/FBgn0033548.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:1913431" 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/NOP10#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:1913431" 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/55505/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=55505" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00007708;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041007-4" 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">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55505" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=NOP10&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
|
606471
|
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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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NOP10 RIBONUCLEOPROTEIN; NOP10
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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>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NOP10, S. CEREVISIAE, HOMOLOG OF<br />
|
|
NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3
|
|
</span>
|
|
</h4>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NOP10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NOP10</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/72?start=-3&limit=10&highlight=72">15q14</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:34341719-34343136&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'})">15:34,341,719-34,343,136</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=620425,224230,620400" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/72?start=-3&limit=10&highlight=72">
|
|
15q14
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/620425"> 620425 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Dyskeratosis congenita, autosomal recessive 1
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/224230"> 224230 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/620400"> 620400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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<p>By searching an EST database for orthologs of yeast Nop10, <a href="#3" class="mim-tip-reference" title="Henras, A., Henry, Y., Bousquet-Atonelli, C., Noaillac-Depeyre, J., Gelugne, J.-P., Caizergues-Ferrer, M. <strong>Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs.</strong> EMBO J. 17: 7078-7090, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843512</a>] [<a href="https://doi.org/10.1093/emboj/17.23.7078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843512">Henras et al. (1998)</a> identified an EST encoding a protein 60% identical to the yeast protein. By EST database searching followed by 5-prime and 3-prime RACE, <a href="#5" class="mim-tip-reference" title="Pogacic, V., Dragon, F., Filipowicz, W. <strong>Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.</strong> Molec. Cell. Biol. 20: 9028-9040, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11074001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.20.23.9028-9040.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11074001">Pogacic et al. (2000)</a> obtained a cDNA encoding NOP10, which they called NOP10. The deduced 64-amino acid protein could replace the yeast protein in complementation assays. <a href="#5" class="mim-tip-reference" title="Pogacic, V., Dragon, F., Filipowicz, W. <strong>Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.</strong> Molec. Cell. Biol. 20: 9028-9040, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11074001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.20.23.9028-9040.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11074001">Pogacic et al. (2000)</a> noted that NOP10 is conserved in eukaryotes and archaea, but no similar sequence could be identified in bacteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11074001+9843512" 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 immunoprecipitation studies and Western blot analysis, <a href="#5" class="mim-tip-reference" title="Pogacic, V., Dragon, F., Filipowicz, W. <strong>Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.</strong> Molec. Cell. Biol. 20: 9028-9040, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11074001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.20.23.9028-9040.2000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11074001">Pogacic et al. (2000)</a> found that NOP10 associates with NHP2 (NOLA2; <a href="/entry/606470">606470</a>), dyskerin (DKC1; <a href="/entry/300126">300126</a>), and GAR1 (NOLA1; <a href="/entry/606468">606468</a>) in structures corresponding to H/ACA small nucleolar RNPs (snoRNPs), but not to C/D snoRNPs, and to telomerase. SnoRNPs of the H/ACA class specify the sites of uridine-to-pseudouridine conversion (see <a href="#6" class="mim-tip-reference" title="Tollervey, D., Kiss, T. <strong>Function and synthesis of small nucleolar RNAs.</strong> Curr. Opin. Cell Biol. 9: 337-342, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9159079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9159079</a>] [<a href="https://doi.org/10.1016/s0955-0674(97)80005-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9159079">Tollervey and Kiss, 1997</a>). Immunofluorescence microscopy demonstrated colocalization of NOP10 with NOLA1, NOLA2, and DKC1, but not with fibrillarin (FBL; <a href="/entry/134795">134795</a>), in nucleolar dense fibrillar components and in Cajal bodies (also called coiled bodies; see <a href="/entry/600272">600272</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11074001+9159079" 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="Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al Qurashi, F., Aljurf, M., Dokal, I. <strong>Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.</strong> Hum. Molec. Genet. 16: 1619-1629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17507419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17507419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17507419[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/ddm111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17507419">Walne et al. (2007)</a> demonstrated that knockdown of NOP10 expression in HeLa cells by siRNA resulted in reduction in the amount of telomerase RNA component (TERC; <a href="/entry/602322">602322</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17507419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/1/2021."None>Gross (2021)</a> mapped the NOP10 gene to chromosome 15q14 based on an alignment of the NOP10 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC008886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC008886</a>) with the genomic sequence (GRCh38).</p>
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In all 3 affected members of a Saudi family with autosomal recessive dyskeratosis congenita-1 (DKCB1; <a href="/entry/224230">224230</a>), <a href="#7" class="mim-tip-reference" title="Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al Qurashi, F., Aljurf, M., Dokal, I. <strong>Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.</strong> Hum. Molec. Genet. 16: 1619-1629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17507419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17507419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17507419[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/ddm111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17507419">Walne et al. (2007)</a> identified a homozygous mutation in the NOP10 gene (<a href="#0001">606471.0001</a>). Those affected had significant telomere shortening and reduced TERC levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17507419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome 9</em></strong></p><p>
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In 4 affected individuals from a large family with telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9; <a href="/entry/620400">620400</a>), <a href="#4" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al. (2020)</a> identified a heterozygous missense mutation in the NOP10 gene (Y6C; <a href="#0002">606471.0002</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (<a href="/entry/300126">300126</a>) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2</em></strong></p><p>
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In 2 girls from a highly consanguineous family (family B) with cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2; <a href="/entry/620425">620425</a>), <a href="#1" class="mim-tip-reference" title="Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., and 45 others. <strong>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.</strong> Proc. Nat. Acad. Sci. 117: 15137-15147, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32554502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32554502</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32554502[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/10.1073/pnas.2002328117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32554502">Balogh et al. (2020)</a> identified a homozygous missense mutation in the NOP10 gene (T16M; <a href="#0003">606471.0003</a>). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family and was not present in the general population. The mutation occurred in the DKC1 (<a href="/entry/300126">300126</a>)-NOP10 interface in a region distinct from those implicated in dyskeratosis congenita. Although the binding interaction with DKC1 was maintained, molecular modeling and in vitro studies showed that the T16M mutation altered the hydrogen binding between NOP10 and DKC1, disrupted the catalytic pseudouridylation site, and altered the pseudouridylation capacity of the snoRNP complex. Peripheral blood cells from 1 of the patients showed a pseudouridylation defect of 18S rRNA. Despite the finding of shortened telomeres in the affected females, the authors concluded that a pseudouridylation defect causing ribosomal dysfunction is the primary driver of this unique phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32554502" 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=RCV000004500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004500</a>
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<p>In 3 affected members of a consanguineous Saudi family with autosomal recessive dyskeratosis congenita-1 (DKCB1; <a href="/entry/224230">224230</a>), <a href="#7" class="mim-tip-reference" title="Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al Qurashi, F., Aljurf, M., Dokal, I. <strong>Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.</strong> Hum. Molec. Genet. 16: 1619-1629, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17507419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17507419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17507419[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/ddm111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17507419">Walne et al. (2007)</a> identified homozygosity for a c.100C-T transition in exon 2 of the NOP10 gene, resulting in an arg34-to-trp substitution. The mutation occurs in a highly conserved region of the protein and is predicted to change the structure of the protein. Unaffected family members were heterozygous for the mutation, which was not present in 56 ethnically matched healthy individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17507419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (1 family)</strong>
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NOP10, TYR6CYS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003232878" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003232878" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003232878</a>
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<p>In 4 affected individuals from a large family with telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9; <a href="/entry/620400">620400</a>), <a href="#4" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al. (2020)</a> identified a heterozygous c.17A-G transition (c.17A-G, NM_018648) in the NOP10 gene, resulting in a tyr6-to-cys (Y6C) substitution at a conserved residue in the small N-terminal globular ribbon domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (<a href="/entry/300126">300126</a>) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (1 family)</strong>
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NOP10, THR16MET
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003236697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003236697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003236697</a>
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<p>In 2 girls from a highly consanguineous family (family B) with cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2; <a href="/entry/620425">620425</a>), <a href="#1" class="mim-tip-reference" title="Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., and 45 others. <strong>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.</strong> Proc. Nat. Acad. Sci. 117: 15137-15147, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32554502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32554502</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32554502[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/10.1073/pnas.2002328117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32554502">Balogh et al. (2020)</a> identified a homozygous c.47C-T transition in the NOP10 gene, resulting in a thr16-to-met (T16M) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family and was not present in the general population. The mother of one of the affected girls had hearing impairment, but her genotype was not noted. Patient cells showed a reduced level of the mutant NOP10 protein, suggesting a possible effect on protein stability. The mutation occurred in the DKC1 (<a href="/entry/300126">300126</a>)-NOP10 interface in a region distinct from those implicated in dyskeratosis congenita. Although the binding interaction with DKC1 was maintained, molecular modeling and in vitro studies showed that the T16M mutation altered the hydrogen binding between NOP10 and DKC1, disrupted the catalytic pseudouridylation site, and altered the pseudouridylation capacity of the snoRNP complex. Peripheral blood cells from 1 of the patients showed a pseudouridylation defect of 18S rRNA. Despite the finding of shortened telomeres in the affected females, the authors concluded that a pseudouridylation defect causing ribosomal dysfunction is the primary driver of this unique phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32554502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Balogh2020" class="mim-anchor"></a>
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Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., and 45 others.
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<strong>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.</strong>
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Proc. Nat. Acad. Sci. 117: 15137-15147, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32554502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32554502</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32554502[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=32554502" 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/10.1073/pnas.2002328117" target="_blank">Full Text</a>]
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<a id="Gross2021" class="mim-anchor"></a>
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/1/2021.
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<a id="Henras1998" class="mim-anchor"></a>
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Henras, A., Henry, Y., Bousquet-Atonelli, C., Noaillac-Depeyre, J., Gelugne, J.-P., Caizergues-Ferrer, M.
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<strong>Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs.</strong>
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EMBO J. 17: 7078-7090, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843512" 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/emboj/17.23.7078" target="_blank">Full Text</a>]
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<a id="Kannengiesser2020" class="mim-anchor"></a>
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Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A.
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<strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong>
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Europ. Resp. J. 55: 1902465, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Pogacic, V., Dragon, F., Filipowicz, W.
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<strong>Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.</strong>
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Molec. Cell. Biol. 20: 9028-9040, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11074001[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=11074001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.20.23.9028-9040.2000" target="_blank">Full Text</a>]
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Tollervey, D., Kiss, T.
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<strong>Function and synthesis of small nucleolar RNAs.</strong>
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Curr. Opin. Cell Biol. 9: 337-342, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9159079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9159079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9159079" 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/s0955-0674(97)80005-1" target="_blank">Full Text</a>]
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Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al Qurashi, F., Aljurf, M., Dokal, I.
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<strong>Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.</strong>
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Hum. Molec. Genet. 16: 1619-1629, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17507419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17507419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17507419[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=17507419" 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/ddm111" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 06/22/2023
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Cassandra L. Kniffin - updated : 05/30/2023<br>Matthew B. Gross - updated : 11/01/2021<br>George E. Tiller - updated : 4/10/2008
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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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Paul J. Converse : 11/20/2001
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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="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<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 : 06/23/2023
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</span>
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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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ckniffin : 06/22/2023<br>alopez : 06/01/2023<br>ckniffin : 05/30/2023<br>mgross : 11/01/2021<br>carol : 10/11/2021<br>alopez : 09/18/2015<br>carol : 5/26/2011<br>ckniffin : 5/25/2011<br>alopez : 4/11/2008<br>carol : 4/10/2008<br>terry : 3/31/2008<br>mgross : 9/9/2004<br>terry : 8/9/2004<br>terry : 8/9/2004<br>mgross : 11/20/2001
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606471
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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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NOP10 RIBONUCLEOPROTEIN; NOP10
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</h3>
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<div>
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<br />
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<div >
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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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NOP10, S. CEREVISIAE, HOMOLOG OF<br />
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NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3
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</span>
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</h4>
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</div>
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<div>
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<br />
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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: NOP10</em></strong>
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</span>
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</p>
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</div>
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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: 15q14
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:34,341,719-34,343,136 </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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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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="3">
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<span class="mim-font">
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15q14
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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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?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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620425
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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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<tr>
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<td>
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<span class="mim-font">
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?Dyskeratosis congenita, autosomal recessive 1
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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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224230
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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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<tr>
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<td>
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<span class="mim-font">
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?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
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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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620400
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 an EST database for orthologs of yeast Nop10, Henras et al. (1998) identified an EST encoding a protein 60% identical to the yeast protein. By EST database searching followed by 5-prime and 3-prime RACE, Pogacic et al. (2000) obtained a cDNA encoding NOP10, which they called NOP10. The deduced 64-amino acid protein could replace the yeast protein in complementation assays. Pogacic et al. (2000) noted that NOP10 is conserved in eukaryotes and archaea, but no similar sequence could be identified in bacteria. </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 immunoprecipitation studies and Western blot analysis, Pogacic et al. (2000) found that NOP10 associates with NHP2 (NOLA2; 606470), dyskerin (DKC1; 300126), and GAR1 (NOLA1; 606468) in structures corresponding to H/ACA small nucleolar RNPs (snoRNPs), but not to C/D snoRNPs, and to telomerase. SnoRNPs of the H/ACA class specify the sites of uridine-to-pseudouridine conversion (see Tollervey and Kiss, 1997). Immunofluorescence microscopy demonstrated colocalization of NOP10 with NOLA1, NOLA2, and DKC1, but not with fibrillarin (FBL; 134795), in nucleolar dense fibrillar components and in Cajal bodies (also called coiled bodies; see 600272). </p><p>Walne et al. (2007) demonstrated that knockdown of NOP10 expression in HeLa cells by siRNA resulted in reduction in the amount of telomerase RNA component (TERC; 602322). </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>Gross (2021) mapped the NOP10 gene to chromosome 15q14 based on an alignment of the NOP10 sequence (GenBank BC008886) 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">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p><strong><em>Autosomal Recessive Dyskeratosis Congenita 1</em></strong></p><p>
|
|
In all 3 affected members of a Saudi family with autosomal recessive dyskeratosis congenita-1 (DKCB1; 224230), Walne et al. (2007) identified a homozygous mutation in the NOP10 gene (606471.0001). Those affected had significant telomere shortening and reduced TERC levels. </p><p><strong><em>Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome 9</em></strong></p><p>
|
|
In 4 affected individuals from a large family with telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9; 620400), Kannengiesser et al. (2020) identified a heterozygous missense mutation in the NOP10 gene (Y6C; 606471.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (300126) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. </p><p><strong><em>Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2</em></strong></p><p>
|
|
In 2 girls from a highly consanguineous family (family B) with cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2; 620425), Balogh et al. (2020) identified a homozygous missense mutation in the NOP10 gene (T16M; 606471.0003). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family and was not present in the general population. The mutation occurred in the DKC1 (300126)-NOP10 interface in a region distinct from those implicated in dyskeratosis congenita. Although the binding interaction with DKC1 was maintained, molecular modeling and in vitro studies showed that the T16M mutation altered the hydrogen binding between NOP10 and DKC1, disrupted the catalytic pseudouridylation site, and altered the pseudouridylation capacity of the snoRNP complex. Peripheral blood cells from 1 of the patients showed a pseudouridylation defect of 18S rRNA. Despite the finding of shortened telomeres in the affected females, the authors concluded that a pseudouridylation defect causing ribosomal dysfunction is the primary driver of this unique phenotype. </p>
|
|
</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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 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 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (1 family)</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
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|
|
NOP10, ARG34TRP
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|
|
|
|
<br />
|
|
|
|
SNP: rs121908092,
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|
|
ClinVar: RCV000004500
|
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|
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</span>
|
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</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a consanguineous Saudi family with autosomal recessive dyskeratosis congenita-1 (DKCB1; 224230), Walne et al. (2007) identified homozygosity for a c.100C-T transition in exon 2 of the NOP10 gene, resulting in an arg34-to-trp substitution. The mutation occurs in a highly conserved region of the protein and is predicted to change the structure of the protein. Unaffected family members were heterozygous for the mutation, which was not present in 56 ethnically matched healthy individuals. </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>.0002 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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NOP10, TYR6CYS
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<br />
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ClinVar: RCV003232878
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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 4 affected individuals from a large family with telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9; 620400), Kannengiesser et al. (2020) identified a heterozygous c.17A-G transition (c.17A-G, NM_018648) in the NOP10 gene, resulting in a tyr6-to-cys (Y6C) substitution at a conserved residue in the small N-terminal globular ribbon domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (300126) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (1 family)</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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NOP10, THR16MET
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<br />
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ClinVar: RCV003236697
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 2 girls from a highly consanguineous family (family B) with cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2; 620425), Balogh et al. (2020) identified a homozygous c.47C-T transition in the NOP10 gene, resulting in a thr16-to-met (T16M) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the family and was not present in the general population. The mother of one of the affected girls had hearing impairment, but her genotype was not noted. Patient cells showed a reduced level of the mutant NOP10 protein, suggesting a possible effect on protein stability. The mutation occurred in the DKC1 (300126)-NOP10 interface in a region distinct from those implicated in dyskeratosis congenita. Although the binding interaction with DKC1 was maintained, molecular modeling and in vitro studies showed that the T16M mutation altered the hydrogen binding between NOP10 and DKC1, disrupted the catalytic pseudouridylation site, and altered the pseudouridylation capacity of the snoRNP complex. Peripheral blood cells from 1 of the patients showed a pseudouridylation defect of 18S rRNA. Despite the finding of shortened telomeres in the affected females, the authors concluded that a pseudouridylation defect causing ribosomal dysfunction is the primary driver of this unique phenotype. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
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Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., and 45 others.
|
|
<strong>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.</strong>
|
|
Proc. Nat. Acad. Sci. 117: 15137-15147, 2020.
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[PubMed: 32554502]
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[Full Text: https://doi.org/10.1073/pnas.2002328117]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/1/2021.
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</p>
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</li>
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<li>
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Henras, A., Henry, Y., Bousquet-Atonelli, C., Noaillac-Depeyre, J., Gelugne, J.-P., Caizergues-Ferrer, M.
|
|
<strong>Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs.</strong>
|
|
EMBO J. 17: 7078-7090, 1998.
|
|
|
|
|
|
[PubMed: 9843512]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/emboj/17.23.7078]
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</li>
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<li>
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Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A.
|
|
<strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong>
|
|
Europ. Resp. J. 55: 1902465, 2020.
|
|
|
|
|
|
[PubMed: 32139460]
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|
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|
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[Full Text: https://doi.org/10.1183/13993003.02465-2019]
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</p>
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</li>
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<li>
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Pogacic, V., Dragon, F., Filipowicz, W.
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<strong>Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.</strong>
|
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Molec. Cell. Biol. 20: 9028-9040, 2000.
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[PubMed: 11074001]
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[Full Text: https://doi.org/10.1128/MCB.20.23.9028-9040.2000]
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</p>
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</li>
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<li>
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Tollervey, D., Kiss, T.
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<strong>Function and synthesis of small nucleolar RNAs.</strong>
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Curr. Opin. Cell Biol. 9: 337-342, 1997.
|
|
|
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[PubMed: 9159079]
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[Full Text: https://doi.org/10.1016/s0955-0674(97)80005-1]
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Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al Qurashi, F., Aljurf, M., Dokal, I.
|
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<strong>Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.</strong>
|
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Hum. Molec. Genet. 16: 1619-1629, 2007.
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[PubMed: 17507419]
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[Full Text: https://doi.org/10.1093/hmg/ddm111]
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Cassandra L. Kniffin - updated : 06/22/2023<br>Cassandra L. Kniffin - updated : 05/30/2023<br>Matthew B. Gross - updated : 11/01/2021<br>George E. Tiller - updated : 4/10/2008
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