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Entry
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- *613469 - HEPARANASE 2; HPSE2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613469</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613469">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000172987;t=ENST00000370552" 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=60495" 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=613469" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000172987;t=ENST00000370552" 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_001166244,NM_001166245,NM_001166246,NM_021828,XM_011540029,XM_011540030,XM_011540031,XM_017016496,XM_017016497,XM_017016498,XM_024448119,XM_047425614,XM_047425615,XM_047425616" 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_021828" 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=613469" 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=13669&isoform_id=13669_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/HPSE2" 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/10801195,10801197,10801199,18073437,18073439,85662624,119570257,119570258,119570259,125987832,189054524,193787595,261878501,261878503,261878505,261878507,329805007,767963449,767963451,767963454,1034569076,1034569079,1034569083,1370457567,2217278254,2217278257,2217278259,2462520519,2462520521,2462520523,2462520525,2462520527,2462520529,2462520531,2462520533,2462520535,2462520537" 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/Q8WWQ2" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=60495" 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=ENSG00000172987;t=ENST00000370552" 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=HPSE2" 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=HPSE2" 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+60495" 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/HPSE2" 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:60495" 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/60495" 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=chr10&hgg_gene=ENST00000370552.8&hgg_start=98457077&hgg_end=99315951&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18374" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hpse2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613469[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=613469[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/ENSG00000172987" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HPSE2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HPSE2" 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=HPSE2" 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://www.LOVD.nl/HPSE2" 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=HPSE2&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/PA38533" 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:18374" 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/FBgn0038611.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:2685814" 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/HPSE2#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:2685814" 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/60495/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=60495" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-090313-378" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:60495" 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=HPSE2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 236533008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613469
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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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HEPARANASE 2; HPSE2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HPA2
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HPSE2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HPSE2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/10/462?start=-3&limit=10&highlight=462">10q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:98457077-99315951&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'})">10:98,457,077-99,315,951</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/10/462?start=-3&limit=10&highlight=462">
|
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10q24.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Urofacial syndrome 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/236730"> 236730 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613469" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613469" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<p>Heparan sulfate proteoglycans (HSPGs) are major components of the basement membrane and extracellular matrix. Heparanases, like HSPE2, are endoglycosidases that cleave the heparan sulfate side chain of HSPGs to permit the remodeling of the extracellular matrix for cell movement or the release of bioactive molecules from the extracellular matrix or cell surface (summary by <a href="#8" class="mim-tip-reference" title="McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M. <strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong> Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027606</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11027606">McKenzie et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11027606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By searching an EST database for sequences similar to HPA1 (HPSE; <a href="/entry/604724">604724</a>), followed by PCR of a normal mammary gland cDNA library, <a href="#8" class="mim-tip-reference" title="McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M. <strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong> Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027606</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11027606">McKenzie et al. (2000)</a> identified 3 HPSE2 splice variants that they called HPA2A, HPA2B, and HPA2C. The 3 transcripts encode 480-, 534-, and 592-amino acid proteins, respectively. All 3 proteins have an N-terminal transmembrane domain and a C-terminal heparin-binding motif. HPA2AB and HPA2C differ from HPA2A by the insertion of 45 or 112 amino acids, respectively, after asp149. Northern blot analysis detected a 4.4-kb transcript in bladder, small intestine, uterus, and prostate. Real-time quantitative RT-PCR detected highest HPA2 expression in brain, mammary gland, prostate, small intestine, testis, and uterus, with little or no expression in most other normal tissues examined. In brain subregions, highest HPA2 expression was detected in caudate nucleus, thalamus, and cerebellum. RNA dot blot analysis also showed high HPA2 expression in aorta and brain medulla oblongata, putamen, and pons. <a href="#8" class="mim-tip-reference" title="McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M. <strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong> Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027606</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11027606">McKenzie et al. (2000)</a> noted that the pattern of HPA2 expression differed from that of HPA1 in both normal and tumor tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11027606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a human multiple-tissue RNA dot blot, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> observed widespread HPSE2 expression in the adult central nervous system, including the spinal cord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen, and pons. As assessed by RT-PCR of a human embryonic brain panel, HPSE2 was expressed in the developing forebrain, telencephalon, diencephalon, midbrain, hindbrain, and spinal cord. Dot-blot analysis also showed prominent HPSE2 expression in the adult urinary bladder, and in situ hybridization demonstrated that transcripts localized within tissue sections to longitudinal and circular layers of detrusor muscle. On dot blots, there was also evidence that HPSE2 is expressed in the adult fore-, mid-, and lower gut and in both the adult and fetal kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560210" 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="#10" class="mim-tip-reference" title="Roberts, N. A., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G., Hilton, E. N. <strong>Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.</strong> Hum. Molec. Genet. 23: 4302-4314, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24691552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24691552</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24691552[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/ddu147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24691552">Roberts et al. (2014)</a> found that the 580-amino acid Xenopus Hpse2 protein shares 80% identity with human HPSE2. Both proteins are predicted to lack the endo-beta-D-glucuronidase activity found in HPSE1 (HPSE; <a href="/entry/604724">604724</a>). Expression of Hpse2 increased with development in Xenopus embryos, first being detected in neural tube and myotomes, and later in skeletal muscle and gut epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24691552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#8" class="mim-tip-reference" title="McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M. <strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong> Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027606</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11027606">McKenzie et al. (2000)</a> mapped the HPSE2 gene to chromosome 10q23-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11027606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="de Moura, J. P., Jr., Nicolau, S. M., Stavale, J. N., da Silva Pinhal, M. A., de Matos, L. L., Baracat, E. C., de Lima, G. R. <strong>Heparanase-2 expression in normal ovarian epithelium and in benign and malignant ovarian tumors.</strong> Int. J. Gynec. Cancer 19: 1494-1500, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19955924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19955924</a>] [<a href="https://doi.org/10.1111/IGC.0b013e3181a834a2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19955924">De Moura et al. (2009)</a> found that the expression of HPSE2 was elevated in malignant and benign epithelial ovarian neoplasias compared with normal ovarian tissue. They concluded that HPSE2 is involved in neoplastic proliferation, but not specifically malignant neoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19955924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient from a Colombian family with urofacial syndrome mapping to chromosome 10q24 (UFS1; <a href="/entry/236730">236730</a>), <a href="#9" class="mim-tip-reference" title="Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y. <strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560209</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560209[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560209">Pang et al. (2010)</a> analyzed multiple candidate genes and identified homozygosity for a nonsense mutation in HPSE2 (<a href="#0001">613469.0001</a>). Analysis of 5 more Colombian UFS families revealed homozygosity for the same mutation in all patients. Screening of the HPSE2 gene in 2 UFS families from the United States revealed homozygosity for a 2-bp deletion in affected individuals (<a href="#0002">613469.0002</a>), and in a French UFS family, patients were found to be compound heterozygous for the same 2-bp deletion and another 2-bp deletion (<a href="#0003">613469.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous British Pakistani family with UFS mapping to 10q23-q24, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> performed copy number analysis and identified homozygosity for an intragenic deletion involving exons 8 and 9 of the HPSE2 gene that segregated with the disease (<a href="#0004">613469.0004</a>). Mutation screening of HPSE2 led to the identification of homozygosity for 2 nonsense and 3 frameshift mutations in 5 previously reported unrelated UFS families from Ireland, Spain, and Turkey (<a href="#0002">613469.0002</a>; <a href="#0005">613469.0005</a>-<a href="#0008">613469.0008</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 sisters, born of first-cousin Pakistani parents, with UFS, <a href="#7" class="mim-tip-reference" title="Mahmood, S., Beetz, C., Tahir, M. M., Imran, M., Mumtaz, R., Bassmann, I., Jahic, A., Malik, M., Nurnberg, G., Hassan, S. A. A., Rana, S., Nurnberg, P., Hubner, C. A. <strong>First missense mutation in urofacial syndrome.</strong> Clin. Genet. 81: 88-92, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21332471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21332471</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01649.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21332471">Mahmood et al. (2012)</a> identified homozygosity for a missense mutation in the HPSE2 gene (<a href="#0009">613469.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21332471" 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 antisense morpholinos, <a href="#10" class="mim-tip-reference" title="Roberts, N. A., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G., Hilton, E. N. <strong>Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.</strong> Hum. Molec. Genet. 23: 4302-4314, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24691552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24691552</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24691552[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/ddu147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24691552">Roberts et al. (2014)</a> found that knockdown of Hpse2 in Xenopus embryos interfered with hatching and escape reflexes and caused abnormal development of the gut and tail. Knockdown of Hpse2 also caused meandering of motor nerve paths and axon bundles that were less compact than controls. Biochemical analysis revealed upregulation of Fgf2 and phosphorylated Erk (see <a href="/entry/176872">176872</a>) signaling and altered expression of neural- and muscle-associated transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24691552" 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="#6" class="mim-tip-reference" title="Guo, C., Kaneko, S., Sun, Y., Huang, Y., Vlodavsky, I., Li, X., Li, Z.-R., Li, X. <strong>A mouse model of urofacial syndrome with dysfunctional urination.</strong> Hum. Molec. Genet. 24: 1991-1999, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25510506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25510506</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25510506[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/ddu613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25510506">Guo et al. (2015)</a> found that Hpse2 -/- mice were smaller than wildtype littermates and died within 1 month of birth. Hpse2 -/- mutants had small kidneys, enlarged fibrotic bladders, and abnormally high resting and voiding intravesical pressures. Hpse2 -/- mice also showed reduced intestinal content compared with wildtype, suggesting possible malnutrition and digestive tract defect. Blood chemistry and urinalysis of mutant mice revealed proteinurea due to renal dysfunction, even though their small kidneys appeared grossly normal and had normal total glomeruli counts. Hpse2 -/- cells of all 3 bladder tissue layers (urothelium, lamina propria, detrusor smooth muscle) showed significantly reduced proliferation rates compared with wildtype. Mutant bladders showed aberrant Tgf-beta (TGFB1; <a href="/entry/190180">190180</a>) signaling concomitant with abnormal collagen deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25510506" 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=613469[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In affected individuals from 6 Colombian families with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), <a href="#9" class="mim-tip-reference" title="Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y. <strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560209</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560209[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560209">Pang et al. (2010)</a> identified homozygosity for a 1516C-T transition in exon 11 of the HPSE2 gene, resulting in an arg506-to-ter (R506X) substitution predicted to cause a truncated protein lacking 86 C-terminal amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515338 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515338;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397515338?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397515338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected individuals with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>) from 2 United States pedigrees with a common Irish heritage, <a href="#9" class="mim-tip-reference" title="Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y. <strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560209</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560209[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560209">Pang et al. (2010)</a> identified homozygosity for a 2-bp deletion (1465delAA) in exon 10 of the HPSE2 gene, predicted to cause a frameshift resulting in a larger protein of 613 amino acids with a completely different sequence for the last 125 residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Irish sisters with urofacial syndrome, originally reported by <a href="#5" class="mim-tip-reference" title="Garcia-Minaur, S., Oliver, F., Yanez, J. M., Soriano, J. R., Quinn, F., Reardon, W. <strong>Three new European cases of urofacial (Ochoa) syndrome.</strong> Clin. Dysmorph. 10: 165-170, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11446407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11446407</a>] [<a href="https://doi.org/10.1097/00019605-200107000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11446407">Garcia-Minaur et al. (2001)</a>, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for the 1465delAA mutation; <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> predicted that the frameshift would result in nonsense-mediated decay or in a readily-degraded unfolded protein. The sisters had strikingly different presentations: one was severely affected from childhood and underwent multiple urologic surgeries, whereas the other was diagnosed only at age 25 years when she accompanied her sister to the urologic clinic. Their parents were heterozygous for the mutation, which was not found in 96 European controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11446407+20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1469962264 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1469962264;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1469962264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1469962264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 French brothers with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), <a href="#9" class="mim-tip-reference" title="Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y. <strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560209</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560209[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560209">Pang et al. (2010)</a> identified compound heterozygosity for the 2-bp deletion in exon 10 of the HPSE2 gene (<a href="#0002">613469.0002</a>) and another 2-bp deletion (241delCT) in exon 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560209" 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=RCV000000106" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000106" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000106</a>
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<p>By copy number analysis in a consanguineous British Pakistani family with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for an intragenic deletion encompassing exons 8 and 9 of the HPSE2 gene that segregated with the disease. PCR analysis and DNA sequencing across the breakpoints defined a 10.81-kb deletion and a 23-bp insertion at the breakpoints, predicted to cause an in-frame deletion of exons 8 and 9 and removal of 74 amino acids. The unaffected parents were heterozygous for the mutation, which was not found in 93 Pakistani controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560210" 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=RCV000000107" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000107" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000107</a>
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<p>In a 12-year-old Spanish boy with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), originally reported by <a href="#5" class="mim-tip-reference" title="Garcia-Minaur, S., Oliver, F., Yanez, J. M., Soriano, J. R., Quinn, F., Reardon, W. <strong>Three new European cases of urofacial (Ochoa) syndrome.</strong> Clin. Dysmorph. 10: 165-170, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11446407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11446407</a>] [<a href="https://doi.org/10.1097/00019605-200107000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11446407">Garcia-Minaur et al. (2001)</a>, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for an in-frame deletion of exon 3 of the HPSE2 gene, resulting in removal of 54 amino acids from the protein. His consanguineous parents were heterozygous for the mutation, which was not found in 96 European controls. His father was reported to have had multiple urinary tract infections, although urologic investigations were normal and he did not show the characteristic grimacing; he died at 65 years of age due to cerebral hemorrhage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11446407+20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 UROFACIAL SYNDROME 1</strong>
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HPSE2, ARG472TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606864 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606864;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606864?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000108 OR RCV003555874" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000108, RCV003555874" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000108...</a>
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<p>In a 16-year-old Turkish girl with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Derbent, M., Melek, E., Arman, A., Uckan, S., Baskin, E. <strong>Urofacial (Ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?</strong> Renal Failure 31: 589-592, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19839856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19839856</a>] [<a href="https://doi.org/10.1080/08860220903003370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19839856">Derbent et al. (2009)</a>, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for a 1414C-T transition in exon 10 of the HPSE2 gene, resulting in an arg472-to-ter (R472X) substitution. Her unaffected parents were heterozygous for the mutation, which was not found in 96 Turkish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19839856+20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 UROFACIAL SYNDROME 1</strong>
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HPSE2, ARG153TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606865 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606865;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606865?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000109 OR RCV001849249 OR RCV002512590" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000109, RCV001849249, RCV002512590" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000109...</a>
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<p>In 18-month-old Turkish twin brothers with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), previously reported by <a href="#1" class="mim-tip-reference" title="Aydogdu, O., Burgu, B., Demirel, F., Soygur, T., Ozcakar, Z. B., Yalcinkaya, F., Tekgul, S. <strong>Ochoa syndrome: a spectrum of urofacial syndrome.</strong> Europ. J. Pediat. 169: 431-435, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19669792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19669792</a>] [<a href="https://doi.org/10.1007/s00431-009-1042-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19669792">Aydogdu et al. (2010)</a>, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for a 457C-T transition in exon 3 of the HPSE2 gene, resulting in an arg153-to-ter (R153X) substitution. Both patients presented with urosepsis and were found to have dysmorphic bladders. Their unaffected parents were heterozygous for the mutation, which was not found in 96 Turkish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19669792+20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 UROFACIAL SYNDROME 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs778121647 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778121647;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs778121647?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs778121647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs778121647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000110 OR RCV003415594" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000110, RCV003415594" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000110...</a>
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<p>In 4 sibs and a cousin from a large Turkish pedigree with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), previously reported by <a href="#1" class="mim-tip-reference" title="Aydogdu, O., Burgu, B., Demirel, F., Soygur, T., Ozcakar, Z. B., Yalcinkaya, F., Tekgul, S. <strong>Ochoa syndrome: a spectrum of urofacial syndrome.</strong> Europ. J. Pediat. 169: 431-435, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19669792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19669792</a>] [<a href="https://doi.org/10.1007/s00431-009-1042-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19669792">Aydogdu et al. (2010)</a>, <a href="#2" class="mim-tip-reference" title="Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others. <strong>Mutations in HPSE2 cause urofacial syndrome.</strong> Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560210">Daly et al. (2010)</a> identified homozygosity for a 1-bp insertion (57insC) in exon 1 of the HPSE2 gene, predicted to cause a frameshift and premature stop codon at residue 64. All 4 unaffected parents and 10 unaffected sibs were heterozygous for the mutation, which was not found in 96 Turkish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19669792+20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 UROFACIAL SYNDROME 1</strong>
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HPSE2, ASN543ILE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515452 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515452;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397515452?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397515452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054516" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054516" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054516</a>
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<p>In 3 sisters, born of first-cousin Pakistani parents, with urofacial syndrome (UFS1; <a href="/entry/236730">236730</a>), <a href="#7" class="mim-tip-reference" title="Mahmood, S., Beetz, C., Tahir, M. M., Imran, M., Mumtaz, R., Bassmann, I., Jahic, A., Malik, M., Nurnberg, G., Hassan, S. A. A., Rana, S., Nurnberg, P., Hubner, C. A. <strong>First missense mutation in urofacial syndrome.</strong> Clin. Genet. 81: 88-92, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21332471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21332471</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01649.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21332471">Mahmood et al. (2012)</a> identified homozygosity for a c.1628A-T transversion in the HPSE2 gene, resulting in an asn543-to-ile (N543I) substitution at a highly conserved residue. The parents and 3 unaffected sibs were heterozygous for the mutation, which was not found in 113 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21332471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Aydogdu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Aydogdu, O., Burgu, B., Demirel, F., Soygur, T., Ozcakar, Z. B., Yalcinkaya, F., Tekgul, S.
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<strong>Ochoa syndrome: a spectrum of urofacial syndrome.</strong>
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Europ. J. Pediat. 169: 431-435, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19669792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19669792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19669792" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00431-009-1042-9" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Daly2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others.
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<strong>Mutations in HPSE2 cause urofacial syndrome.</strong>
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Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560210[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=20560210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.05.006" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="de Moura2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Moura, J. P., Jr., Nicolau, S. M., Stavale, J. N., da Silva Pinhal, M. A., de Matos, L. L., Baracat, E. C., de Lima, G. R.
|
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<strong>Heparanase-2 expression in normal ovarian epithelium and in benign and malignant ovarian tumors.</strong>
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Int. J. Gynec. Cancer 19: 1494-1500, 2009.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19955924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19955924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19955924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/IGC.0b013e3181a834a2" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Derbent2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Derbent, M., Melek, E., Arman, A., Uckan, S., Baskin, E.
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<strong>Urofacial (Ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?</strong>
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Renal Failure 31: 589-592, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19839856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19839856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19839856" 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/10.1080/08860220903003370" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Garcia-Minaur2001" class="mim-anchor"></a>
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<div class="">
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Garcia-Minaur, S., Oliver, F., Yanez, J. M., Soriano, J. R., Quinn, F., Reardon, W.
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<strong>Three new European cases of urofacial (Ochoa) syndrome.</strong>
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Clin. Dysmorph. 10: 165-170, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11446407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11446407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11446407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00019605-200107000-00002" target="_blank">Full Text</a>]
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<a id="Guo2015" class="mim-anchor"></a>
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Guo, C., Kaneko, S., Sun, Y., Huang, Y., Vlodavsky, I., Li, X., Li, Z.-R., Li, X.
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<strong>A mouse model of urofacial syndrome with dysfunctional urination.</strong>
|
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Hum. Molec. Genet. 24: 1991-1999, 2015.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25510506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25510506</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25510506[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=25510506" 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/ddu613" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Mahmood2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mahmood, S., Beetz, C., Tahir, M. M., Imran, M., Mumtaz, R., Bassmann, I., Jahic, A., Malik, M., Nurnberg, G., Hassan, S. A. A., Rana, S., Nurnberg, P., Hubner, C. A.
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<strong>First missense mutation in urofacial syndrome.</strong>
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Clin. Genet. 81: 88-92, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21332471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21332471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21332471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01649.x" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="McKenzie2000" class="mim-anchor"></a>
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<div class="">
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McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M.
|
|
<strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong>
|
|
Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11027606" 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/10.1006/bbrc.2000.3586" target="_blank">Full Text</a>]
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<a id="Pang2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y.
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<strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong>
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Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560209</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560209[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=20560209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.04.016" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Roberts2014" class="mim-anchor"></a>
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Roberts, N. A., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G., Hilton, E. N.
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<strong>Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.</strong>
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Hum. Molec. Genet. 23: 4302-4314, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24691552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24691552</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24691552[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=24691552" 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/ddu147" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 01/05/2017
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 10/28/2016<br>Jumana Al-Aama - updated : 8/19/2013<br>Marla J. F. O'Neill - updated : 7/15/2010
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Creation Date:
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Patricia A. Hartz : 7/2/2010
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<a id="editHistory" class="mim-anchor"></a>
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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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carol : 07/11/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 03/25/2017<br>joanna : 03/24/2017<br>mgross : 01/05/2017<br>alopez : 10/28/2016<br>carol : 08/19/2013<br>carol : 8/19/2013<br>alopez : 3/7/2013<br>carol : 11/2/2012<br>terry : 12/8/2010<br>wwang : 9/20/2010<br>carol : 7/15/2010<br>mgross : 7/2/2010<br>mgross : 7/2/2010
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613469
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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HEPARANASE 2; HPSE2
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</h3>
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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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HPA2
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HPSE2</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 236533008;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 10q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:98,457,077-99,315,951 </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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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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10q24.2
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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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Urofacial syndrome 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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236730
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Heparan sulfate proteoglycans (HSPGs) are major components of the basement membrane and extracellular matrix. Heparanases, like HSPE2, are endoglycosidases that cleave the heparan sulfate side chain of HSPGs to permit the remodeling of the extracellular matrix for cell movement or the release of bioactive molecules from the extracellular matrix or cell surface (summary by McKenzie et al., 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching an EST database for sequences similar to HPA1 (HPSE; 604724), followed by PCR of a normal mammary gland cDNA library, McKenzie et al. (2000) identified 3 HPSE2 splice variants that they called HPA2A, HPA2B, and HPA2C. The 3 transcripts encode 480-, 534-, and 592-amino acid proteins, respectively. All 3 proteins have an N-terminal transmembrane domain and a C-terminal heparin-binding motif. HPA2AB and HPA2C differ from HPA2A by the insertion of 45 or 112 amino acids, respectively, after asp149. Northern blot analysis detected a 4.4-kb transcript in bladder, small intestine, uterus, and prostate. Real-time quantitative RT-PCR detected highest HPA2 expression in brain, mammary gland, prostate, small intestine, testis, and uterus, with little or no expression in most other normal tissues examined. In brain subregions, highest HPA2 expression was detected in caudate nucleus, thalamus, and cerebellum. RNA dot blot analysis also showed high HPA2 expression in aorta and brain medulla oblongata, putamen, and pons. McKenzie et al. (2000) noted that the pattern of HPA2 expression differed from that of HPA1 in both normal and tumor tissues. </p><p>In a human multiple-tissue RNA dot blot, Daly et al. (2010) observed widespread HPSE2 expression in the adult central nervous system, including the spinal cord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen, and pons. As assessed by RT-PCR of a human embryonic brain panel, HPSE2 was expressed in the developing forebrain, telencephalon, diencephalon, midbrain, hindbrain, and spinal cord. Dot-blot analysis also showed prominent HPSE2 expression in the adult urinary bladder, and in situ hybridization demonstrated that transcripts localized within tissue sections to longitudinal and circular layers of detrusor muscle. On dot blots, there was also evidence that HPSE2 is expressed in the adult fore-, mid-, and lower gut and in both the adult and fetal kidney. </p><p>Roberts et al. (2014) found that the 580-amino acid Xenopus Hpse2 protein shares 80% identity with human HPSE2. Both proteins are predicted to lack the endo-beta-D-glucuronidase activity found in HPSE1 (HPSE; 604724). Expression of Hpse2 increased with development in Xenopus embryos, first being detected in neural tube and myotomes, and later in skeletal muscle and gut epithelium. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, McKenzie et al. (2000) mapped the HPSE2 gene to chromosome 10q23-q24. </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>De Moura et al. (2009) found that the expression of HPSE2 was elevated in malignant and benign epithelial ovarian neoplasias compared with normal ovarian tissue. They concluded that HPSE2 is involved in neoplastic proliferation, but not specifically malignant neoplasia. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a patient from a Colombian family with urofacial syndrome mapping to chromosome 10q24 (UFS1; 236730), Pang et al. (2010) analyzed multiple candidate genes and identified homozygosity for a nonsense mutation in HPSE2 (613469.0001). Analysis of 5 more Colombian UFS families revealed homozygosity for the same mutation in all patients. Screening of the HPSE2 gene in 2 UFS families from the United States revealed homozygosity for a 2-bp deletion in affected individuals (613469.0002), and in a French UFS family, patients were found to be compound heterozygous for the same 2-bp deletion and another 2-bp deletion (613469.0003). </p><p>In a consanguineous British Pakistani family with UFS mapping to 10q23-q24, Daly et al. (2010) performed copy number analysis and identified homozygosity for an intragenic deletion involving exons 8 and 9 of the HPSE2 gene that segregated with the disease (613469.0004). Mutation screening of HPSE2 led to the identification of homozygosity for 2 nonsense and 3 frameshift mutations in 5 previously reported unrelated UFS families from Ireland, Spain, and Turkey (613469.0002; 613469.0005-613469.0008, respectively). </p><p>In 3 sisters, born of first-cousin Pakistani parents, with UFS, Mahmood et al. (2012) identified homozygosity for a missense mutation in the HPSE2 gene (613469.0009). </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>Animal Model</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 antisense morpholinos, Roberts et al. (2014) found that knockdown of Hpse2 in Xenopus embryos interfered with hatching and escape reflexes and caused abnormal development of the gut and tail. Knockdown of Hpse2 also caused meandering of motor nerve paths and axon bundles that were less compact than controls. Biochemical analysis revealed upregulation of Fgf2 and phosphorylated Erk (see 176872) signaling and altered expression of neural- and muscle-associated transcripts. </p><p>Guo et al. (2015) found that Hpse2 -/- mice were smaller than wildtype littermates and died within 1 month of birth. Hpse2 -/- mutants had small kidneys, enlarged fibrotic bladders, and abnormally high resting and voiding intravesical pressures. Hpse2 -/- mice also showed reduced intestinal content compared with wildtype, suggesting possible malnutrition and digestive tract defect. Blood chemistry and urinalysis of mutant mice revealed proteinurea due to renal dysfunction, even though their small kidneys appeared grossly normal and had normal total glomeruli counts. Hpse2 -/- cells of all 3 bladder tissue layers (urothelium, lamina propria, detrusor smooth muscle) showed significantly reduced proliferation rates compared with wildtype. Mutant bladders showed aberrant Tgf-beta (TGFB1; 190180) signaling concomitant with abnormal collagen deposition. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 UROFACIAL SYNDROME 1</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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HPSE2, ARG506TER
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<br />
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SNP: rs267606866,
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gnomAD: rs267606866,
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ClinVar: RCV000000103, RCV001061376
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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 affected individuals from 6 Colombian families with urofacial syndrome (UFS1; 236730), Pang et al. (2010) identified homozygosity for a 1516C-T transition in exon 11 of the HPSE2 gene, resulting in an arg506-to-ter (R506X) substitution predicted to cause a truncated protein lacking 86 C-terminal amino acids. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 UROFACIAL SYNDROME 1</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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HPSE2, 2-BP DEL, 1465AA
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<br />
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SNP: rs397515338,
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gnomAD: rs397515338,
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ClinVar: RCV000000104, RCV001241819
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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 affected individuals with urofacial syndrome (UFS1; 236730) from 2 United States pedigrees with a common Irish heritage, Pang et al. (2010) identified homozygosity for a 2-bp deletion (1465delAA) in exon 10 of the HPSE2 gene, predicted to cause a frameshift resulting in a larger protein of 613 amino acids with a completely different sequence for the last 125 residues. </p><p>In 2 Irish sisters with urofacial syndrome, originally reported by Garcia-Minaur et al. (2001), Daly et al. (2010) identified homozygosity for the 1465delAA mutation; Daly et al. (2010) predicted that the frameshift would result in nonsense-mediated decay or in a readily-degraded unfolded protein. The sisters had strikingly different presentations: one was severely affected from childhood and underwent multiple urologic surgeries, whereas the other was diagnosed only at age 25 years when she accompanied her sister to the urologic clinic. Their parents were heterozygous for the mutation, which was not found in 96 European controls. </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 UROFACIAL SYNDROME 1</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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HPSE2, 2-BP DEL, 241CT
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<br />
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SNP: rs1469962264,
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ClinVar: RCV000000105
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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 French brothers with urofacial syndrome (UFS1; 236730), Pang et al. (2010) identified compound heterozygosity for the 2-bp deletion in exon 10 of the HPSE2 gene (613469.0002) and another 2-bp deletion (241delCT) in exon 1. </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>.0004 UROFACIAL SYNDROME 1</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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HPSE2, EX8-9DEL
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<br />
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ClinVar: RCV000000106
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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>By copy number analysis in a consanguineous British Pakistani family with urofacial syndrome (UFS1; 236730), Daly et al. (2010) identified homozygosity for an intragenic deletion encompassing exons 8 and 9 of the HPSE2 gene that segregated with the disease. PCR analysis and DNA sequencing across the breakpoints defined a 10.81-kb deletion and a 23-bp insertion at the breakpoints, predicted to cause an in-frame deletion of exons 8 and 9 and removal of 74 amino acids. The unaffected parents were heterozygous for the mutation, which was not found in 93 Pakistani controls. </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>.0005 UROFACIAL SYNDROME 1</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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HPSE2, EX3DEL
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<br />
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ClinVar: RCV000000107
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<p>In a 12-year-old Spanish boy with urofacial syndrome (UFS1; 236730), originally reported by Garcia-Minaur et al. (2001), Daly et al. (2010) identified homozygosity for an in-frame deletion of exon 3 of the HPSE2 gene, resulting in removal of 54 amino acids from the protein. His consanguineous parents were heterozygous for the mutation, which was not found in 96 European controls. His father was reported to have had multiple urinary tract infections, although urologic investigations were normal and he did not show the characteristic grimacing; he died at 65 years of age due to cerebral hemorrhage. </p>
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<h4>
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<span class="mim-font">
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<strong>.0006 UROFACIAL SYNDROME 1</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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HPSE2, ARG472TER
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<br />
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SNP: rs267606864,
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gnomAD: rs267606864,
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ClinVar: RCV000000108, RCV003555874
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a 16-year-old Turkish girl with urofacial syndrome (UFS1; 236730), originally reported by Derbent et al. (2009), Daly et al. (2010) identified homozygosity for a 1414C-T transition in exon 10 of the HPSE2 gene, resulting in an arg472-to-ter (R472X) substitution. Her unaffected parents were heterozygous for the mutation, which was not found in 96 Turkish controls. </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>.0007 UROFACIAL SYNDROME 1</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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HPSE2, ARG153TER
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<br />
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SNP: rs267606865,
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gnomAD: rs267606865,
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ClinVar: RCV000000109, RCV001849249, RCV002512590
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</span>
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<span class="mim-text-font">
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<p>In 18-month-old Turkish twin brothers with urofacial syndrome (UFS1; 236730), previously reported by Aydogdu et al. (2010), Daly et al. (2010) identified homozygosity for a 457C-T transition in exon 3 of the HPSE2 gene, resulting in an arg153-to-ter (R153X) substitution. Both patients presented with urosepsis and were found to have dysmorphic bladders. Their unaffected parents were heterozygous for the mutation, which was not found in 96 Turkish controls. </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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<h4>
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<span class="mim-font">
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<strong>.0008 UROFACIAL SYNDROME 1</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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HPSE2, 1-BP INS, 57C
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<br />
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SNP: rs778121647,
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gnomAD: rs778121647,
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ClinVar: RCV000000110, RCV003415594
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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 4 sibs and a cousin from a large Turkish pedigree with urofacial syndrome (UFS1; 236730), previously reported by Aydogdu et al. (2010), Daly et al. (2010) identified homozygosity for a 1-bp insertion (57insC) in exon 1 of the HPSE2 gene, predicted to cause a frameshift and premature stop codon at residue 64. All 4 unaffected parents and 10 unaffected sibs were heterozygous for the mutation, which was not found in 96 Turkish controls. </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>.0009 UROFACIAL SYNDROME 1</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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HPSE2, ASN543ILE
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<br />
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SNP: rs397515452,
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gnomAD: rs397515452,
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ClinVar: RCV000054516
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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 3 sisters, born of first-cousin Pakistani parents, with urofacial syndrome (UFS1; 236730), Mahmood et al. (2012) identified homozygosity for a c.1628A-T transversion in the HPSE2 gene, resulting in an asn543-to-ile (N543I) substitution at a highly conserved residue. The parents and 3 unaffected sibs were heterozygous for the mutation, which was not found in 113 ethnically matched controls. </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>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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Aydogdu, O., Burgu, B., Demirel, F., Soygur, T., Ozcakar, Z. B., Yalcinkaya, F., Tekgul, S.
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<strong>Ochoa syndrome: a spectrum of urofacial syndrome.</strong>
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Europ. J. Pediat. 169: 431-435, 2010.
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[PubMed: 19669792]
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[Full Text: https://doi.org/10.1007/s00431-009-1042-9]
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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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Daly, S. B., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R. A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., and 9 others.
|
|
<strong>Mutations in HPSE2 cause urofacial syndrome.</strong>
|
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Am. J. Hum. Genet. 86: 963-969, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 309 only, 2010.
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[PubMed: 20560210]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.05.006]
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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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de Moura, J. P., Jr., Nicolau, S. M., Stavale, J. N., da Silva Pinhal, M. A., de Matos, L. L., Baracat, E. C., de Lima, G. R.
|
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<strong>Heparanase-2 expression in normal ovarian epithelium and in benign and malignant ovarian tumors.</strong>
|
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Int. J. Gynec. Cancer 19: 1494-1500, 2009.
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[PubMed: 19955924]
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[Full Text: https://doi.org/10.1111/IGC.0b013e3181a834a2]
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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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Derbent, M., Melek, E., Arman, A., Uckan, S., Baskin, E.
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<strong>Urofacial (Ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?</strong>
|
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Renal Failure 31: 589-592, 2009.
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[PubMed: 19839856]
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[Full Text: https://doi.org/10.1080/08860220903003370]
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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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Garcia-Minaur, S., Oliver, F., Yanez, J. M., Soriano, J. R., Quinn, F., Reardon, W.
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<strong>Three new European cases of urofacial (Ochoa) syndrome.</strong>
|
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Clin. Dysmorph. 10: 165-170, 2001.
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[PubMed: 11446407]
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[Full Text: https://doi.org/10.1097/00019605-200107000-00002]
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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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Guo, C., Kaneko, S., Sun, Y., Huang, Y., Vlodavsky, I., Li, X., Li, Z.-R., Li, X.
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<strong>A mouse model of urofacial syndrome with dysfunctional urination.</strong>
|
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Hum. Molec. Genet. 24: 1991-1999, 2015.
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[PubMed: 25510506]
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[Full Text: https://doi.org/10.1093/hmg/ddu613]
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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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Mahmood, S., Beetz, C., Tahir, M. M., Imran, M., Mumtaz, R., Bassmann, I., Jahic, A., Malik, M., Nurnberg, G., Hassan, S. A. A., Rana, S., Nurnberg, P., Hubner, C. A.
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<strong>First missense mutation in urofacial syndrome.</strong>
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Clin. Genet. 81: 88-92, 2012.
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[PubMed: 21332471]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01649.x]
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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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McKenzie, E., Tyson, K., Stamps, A., Smith, P., Turner, P., Barry, R., Hircock, M., Patel, S., Barry, E., Stubberfield, C., Terrett, J., Page, M.
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<strong>Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.</strong>
|
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Biochem. Biophys. Res. Commun. 276: 1170-1177, 2000.
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[PubMed: 11027606]
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[Full Text: https://doi.org/10.1006/bbrc.2000.3586]
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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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Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J. A. G., Voelckel, M.-A., Fisher, R. B., Gu, W., Xiong, W.-C., Mei, L., She, J.-X., Wang, C.-Y.
|
|
<strong>Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.</strong>
|
|
Am. J. Hum. Genet. 86: 957-962, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 161 only, 2010.
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[PubMed: 20560209]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.04.016]
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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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Roberts, N. A., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G., Hilton, E. N.
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<strong>Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.</strong>
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Hum. Molec. Genet. 23: 4302-4314, 2014.
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[PubMed: 24691552]
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[Full Text: https://doi.org/10.1093/hmg/ddu147]
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</p>
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</li>
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</ol>
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<div>
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<br />
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Patricia A. Hartz - updated : 01/05/2017<br>Patricia A. Hartz - updated : 10/28/2016<br>Jumana Al-Aama - updated : 8/19/2013<br>Marla J. F. O'Neill - updated : 7/15/2010
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Patricia A. Hartz : 7/2/2010
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carol : 07/11/2024<br>carol : 03/25/2017<br>joanna : 03/24/2017<br>mgross : 01/05/2017<br>alopez : 10/28/2016<br>carol : 08/19/2013<br>carol : 8/19/2013<br>alopez : 3/7/2013<br>carol : 11/2/2012<br>terry : 12/8/2010<br>wwang : 9/20/2010<br>carol : 7/15/2010<br>mgross : 7/2/2010<br>mgross : 7/2/2010
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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