6778 lines
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Entry
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- *611499 - BETA-GLUCURONIDASE; GUSB
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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">*611499</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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#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/611499">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li 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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000169919;t=ENST00000304895" 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=2990" 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=611499" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<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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</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=ENSG00000169919;t=ENST00000304895" 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_000181,NM_001284290,NM_001293104,NM_001293105,NR_120531,XM_005250297,XM_017012091,XM_047420286,XM_047420287,XM_047420288,XM_047420289,XM_047420290" 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_000181" 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=611499" 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=02018&isoform_id=02018_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/GUSB" 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/183233,183705,183707,4261801,15559560,37674400,51094483,62898373,119628354,119628355,119628356,146345377,189053453,194383594,194390458,268834192,530385800,546230986,641451057,641451059,1034655245,2217366807,2217366810,2217366812,2217366814,2217366816,2462613964,2462613966,2462613968,2462613970,2462613972,2462613974" 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/P08236" 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=2990" 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=ENSG00000169919;t=ENST00000304895" 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=GUSB" 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=GUSB" 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+2990" 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/GUSB" 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:2990" 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/2990" 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=chr7&hgg_gene=ENST00000304895.9&hgg_start=65960684&hgg_end=65982213&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:4696" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4696" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gusb" 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=611499[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=611499[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/ENSG00000169919" 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=GUSB" 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=GUSB" 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=GUSB" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GUSB&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/PA29075" 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:4696" 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/FBgn0034417.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:95872" 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/GUSB#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:95872" 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/2990/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000667/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2990" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00013693;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070705-256" 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:2990" 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=GUSB&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> 124470009, 43916004<br />
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<strong>ICD10CM:</strong> E76.29<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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611499
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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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BETA-GLUCURONIDASE; GUSB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=GUSB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GUSB</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/7/297?start=-3&limit=10&highlight=297">7q11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:65960684-65982213&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'})">7:65,960,684-65,982,213</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/7/297?start=-3&limit=10&highlight=297">
|
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7q11.21
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Mucopolysaccharidosis VII
|
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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/253220"> 253220 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611499" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611499" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<p>The GUSB gene encodes beta-glucuronidase (<a href="https://enzyme.expasy.org/EC/3.2.1.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.31</a>), a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (summary by <a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al., 1993</a>). It is a tetrameric glycoprotein composed of identical subunits (summary by <a href="#40" class="mim-tip-reference" title="Oshima, A., Kyle, J. W., Miller, R. D., Hoffmann, J. W., Powell, P. P., Grubb, J. H., Sly, W. S., Tropak, M., Guise, K. S., Gravel, R. A. <strong>Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.</strong> Proc. Nat. Acad. Sci. 84: 685-689, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3468507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3468507</a>] [<a href="https://doi.org/10.1073/pnas.84.3.685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3468507">Oshima et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7680524+3468507" 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="#21" class="mim-tip-reference" title="Guise, K. S., Korneluk, R. G., Waye, J., Lamhonwah, A.-M., Quan, F., Palmer, R., Ganschow, R. E., Sly, W. S., Gravel, R. A. <strong>Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase.</strong> Gene 34: 105-110, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3924735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3924735</a>] [<a href="https://doi.org/10.1016/0378-1119(85)90300-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3924735">Guise et al. (1985)</a> isolated human cDNA clones corresponding to the GUSB gene from a transformed human fibroblast cDNA library. <a href="#40" class="mim-tip-reference" title="Oshima, A., Kyle, J. W., Miller, R. D., Hoffmann, J. W., Powell, P. P., Grubb, J. H., Sly, W. S., Tropak, M., Guise, K. S., Gravel, R. A. <strong>Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.</strong> Proc. Nat. Acad. Sci. 84: 685-689, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3468507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3468507</a>] [<a href="https://doi.org/10.1073/pnas.84.3.685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3468507">Oshima et al. (1987)</a> isolated a cDNA corresponding to the beta-glucuronidase gene from a human placenta library. The deduced mature 629-residue protein has a calculated molecular mass of approximately 72.6 kD with 4 potential N-linked glycosylation sites. There appeared to be 2 populations of mRNA for beta-glucuronidase in human placenta, only one of which specifies an active enzyme. <a href="#63" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Dung, V. C., Grubb, J. H., Sly, W. S. <strong>Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).</strong> Hum. Mutat. 30: 511-519, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224584</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224584[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.20828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224584">Tomatsu et al. (2009)</a> noted that after cleavage of a 22-amino acid N-terminal signal peptide and glycosylation, the 78-kD monomer is transported to lysosomes and cleaved in the lysosome to become the 60-kD and 18-kD subunits of the mature active enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3924735+19224584+3468507" 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="#35" class="mim-tip-reference" title="Miller, R. D., Hoffmann, J. W., Powell, P. P., Kyle, J. W., Shipley, J. M., Bachinsky, D. R., Sly, W. S. <strong>Cloning and characterization of the human beta-glucuronidase gene.</strong> Genomics 7: 280-283, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347593</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90552-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347593">Miller et al. (1990)</a> reported that the GUSB gene is 21 kb long and contains 12 exons. Two types of cDNAs arise, apparently through alternate splicing; exon 6 corresponds to the 153-bp deletion in the shorter of the 2 types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347593" 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="#26" class="mim-tip-reference" title="Knowles, B. B., Solter, D., Trinchieri, G., Maloney, K. M., Ford, S. R., Aden, D. P. <strong>Complement-mediated antiserum cytotoxic reaction to human chromosome 7 coded antigen(s): immunoselection of rearranged human chromosome 7 in human-mouse somatic cell hybrids.</strong> J. Exp. Med. 145: 314-326, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188970</a>] [<a href="https://doi.org/10.1084/jem.145.2.314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="188970">Knowles et al. (1977)</a> concluded that the GUSB locus is on the long arm of chromosome 7. <a href="#72" class="mim-tip-reference" title="Ward, J. C., Sharpe, C. R., Luthardt, F. W., Martens, P. R., Palmer, C. G. <strong>Regional gene mapping of human beta-glucuronidase (GUSB) by dosage analysis: assignment to region 7q11.23-7q21. (Abstract)</strong> Am. J. Hum. Genet. 35: 56A, 1983."None>Ward et al. (1983)</a> assigned the GUSB locus to 7q11.23-q21 by dosage analysis of chromosomal aberrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=188970" 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="#60" class="mim-tip-reference" title="Speleman, F., Vervoort, R., Van Roy, N., Liebaers, I., Sly, W. S., Lissens, W. <strong>Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21-q11.22 and two pseudogenes to 5p13 and 5q13.</strong> Cytogenet. Cell Genet. 72: 53-55, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8565635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8565635</a>] [<a href="https://doi.org/10.1159/000134161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8565635">Speleman et al. (1996)</a> used fluorescence in situ hybridization to map the GUSB gene to 7q11.21-q11.22. This map position was confirmed by dual color hybridization of beta-glucuronidase and elastin (ELN; <a href="/entry/130160">130160</a>); GUSB mapped proximal to elastin. which is at 7q11.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8565635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogenes</em></strong></p><p>
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<a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al. (1993)</a> detected several different GUSB pseudogenes during amplification of exons 2-4, 3, 6-7, and 11. The pseudogenes were located on chromosomes 5, 6, 7, 20, 22, and Y. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680524" 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="#60" class="mim-tip-reference" title="Speleman, F., Vervoort, R., Van Roy, N., Liebaers, I., Sly, W. S., Lissens, W. <strong>Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21-q11.22 and two pseudogenes to 5p13 and 5q13.</strong> Cytogenet. Cell Genet. 72: 53-55, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8565635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8565635</a>] [<a href="https://doi.org/10.1159/000134161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8565635">Speleman et al. (1996)</a> detected minor hybridization signals for GUSB on chromosome 5p13 and 5q13, indicating the presence of pseudogenes at these locations. The authors stated that fluorescence in situ hybridization may be the most reliable method to assign the GUSB locus, since other molecular studies are hampered by atypical pseudogene sequences containing fragments related to GUSB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8565635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mapping by Cytogenetic Studies</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Frydman, M., Steinberger, J., Shabtai, F., Steinherz, R. <strong>Interstitial 7q deletion [46,XY,del(7)(pter-cen:q112-qter)] in a retarded quadriplegic boy with normal beta-glucuronidase.</strong> Am. J. Med. Genet. 25: 245-249, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3096136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3096136</a>] [<a href="https://doi.org/10.1002/ajmg.1320250208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3096136">Frydman et al. (1986)</a> described a 14-year-old severely retarded male with deletion of the cen-q11.2 segment of chromosome 7. Beta-glucuronidase was normal. The previous SRO had been 7cen-q22. The new finding seemed to narrow the assignment to 7q11.2-q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3096136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By exclusion-deletion mapping, <a href="#2" class="mim-tip-reference" title="Allanson, J. E., Gemmill, R. M., Hecht, B. K., Johnsen, S., Wenger, D. A. <strong>Deletion mapping of the beta-glucuronidase gene.</strong> Am. J. Med. Genet. 29: 517-522, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3376995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3376995</a>] [<a href="https://doi.org/10.1002/ajmg.1320290307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3376995">Allanson et al. (1988)</a> narrowed the assignment of the GUSB locus to 7q21.1-q22. They studied an 8-year-old boy who presented with some manifestations similar to MPS VII, including mental retardation, short stature, 'coarse' facial appearance, and mild skeletal involvement, but other discrepant abnormalities, such as iris coloboma and cleft palate. Normal activity of beta-glucuronidase was found in the patient's leukocytes. Chromosome analysis disclosed an interstitial deletion of 7q between bands 11.22 and 11.23 and the other breakpoint within band 21.1. The findings suggested that the GUSB locus was not in the portion of chromosome 7 deleted in this patient, thus narrowing the gene assignment to 7q21.1-q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3376995" 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="#14" class="mim-tip-reference" title="Fagan, K., Gill, A., Henry, R., Wilkinson, I., Carey, B. <strong>A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.</strong> J. Med. Genet. 26: 619-625, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2486209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2486209</a>] [<a href="https://doi.org/10.1136/jmg.26.10.619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2486209">Fagan et al. (1989)</a> studied 3 patients with different de novo interstitial deletions of 7q. Analysis of beta-glucuronidase levels in blood leukocytes permitted assignment of the locus to 7q21.11 or 7q22.1. <a href="#52" class="mim-tip-reference" title="Schwartz, C. E., Stanislovitis, P., Phelan, M. C., Klinger, K., Taylor, H. A., Stevenson, R. E. <strong>Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21-q22.</strong> Cytogenet. Cell Genet. 56: 152-153, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2055109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2055109</a>] [<a href="https://doi.org/10.1159/000133073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2055109">Schwartz et al. (1991)</a> mapped GUSB to 7q21.11 by study of a case of interstitial deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2486209+2055109" 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="#27" class="mim-tip-reference" title="Kreamer, B. L., Siegel, F. L., Gourley, G. R. <strong>A novel inhibitor of beta-glucuronidase: L-aspartic acid.</strong> Pediat. Res. 50: 460-466, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11568288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11568288</a>] [<a href="https://doi.org/10.1203/00006450-200110000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11568288">Kreamer et al. (2001)</a> identified L-aspartic acid as an inhibitor of beta-glucuronidase. The authors isolated L-aspartic acid from hydrolyzed casein and infant formulas. The findings provided an explanation for the observation that infants who consume casein hydrolase formula have been shown to have lower neonatal jaundice compared to those who consume breast milk or routine formula. Beta-glucuronic acid acts naturally to cleave glucuronides from conjugated bilirubin to produce unconjugated bilirubin, which is then absorbed into the bloodstream. <a href="#27" class="mim-tip-reference" title="Kreamer, B. L., Siegel, F. L., Gourley, G. R. <strong>A novel inhibitor of beta-glucuronidase: L-aspartic acid.</strong> Pediat. Res. 50: 460-466, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11568288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11568288</a>] [<a href="https://doi.org/10.1203/00006450-200110000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11568288">Kreamer et al. (2001)</a> postulated that the beta-glucuronidase inhibitor L-aspartic acid can thus block enterohepatic circulation of bilirubin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11568288" 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="#63" class="mim-tip-reference" title="Tomatsu, S., Montano, A. M., Dung, V. C., Grubb, J. H., Sly, W. S. <strong>Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).</strong> Hum. Mutat. 30: 511-519, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224584</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224584[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.20828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224584">Tomatsu et al. (2009)</a> provided a review of mutations in the GUSB gene that cause MPS type VII (MPS7; <a href="/entry/253220">253220</a>). Forty-nine different pathogenic mutations have been reported in the literature, most of which are missense mutations; approximately 40% of these occur at CpG sites within the gene. The most common mutation is L176F (<a href="#0012">611499.0012</a>), which has been found in various populations. Genotype/phenotype analysis indicated that the more severe phenotype was associated with truncating mutations (see, e.g., W507X; <a href="#0008">611499.0008</a>) and with mutations affecting the hydrophobic core or modification of packing (see, e.g., R216W, <a href="#0003">611499.0003</a>; P148S, <a href="#0006">611499.0006</a>; and Y495C, <a href="#0007">611499.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224584" 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 unrelated Japanese patients with MPS VII, <a href="#62" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T. <strong>Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.</strong> Am. J. Hum. Genet. 48: 89-96, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702266</a>]" pmid="1702266">Tomatsu et al. (1991)</a> identified 2 different homozygous mutations in the GUSB gene (<a href="#0001">611499.0001</a> and <a href="#0002">611499.0002</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" 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 the first reported patient with MPS VII (<a href="#56" class="mim-tip-reference" title="Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L. <strong>Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.</strong> J. Pediat. 82: 249-257, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4265197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4265197</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80162-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4265197">Sly et al., 1973</a>), <a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al. (1993)</a> identified compound heterozygosity for 2 mutations in the GUSB gene (<a href="#0015">611499.0015</a>; <a href="#0016">611499.0016</a>). <a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al. (1993)</a> noted that the presence of multiple GUSB pseudogenes rendered molecular analysis 'quite formidable.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4265197+7680524" 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 child with MPS VII, <a href="#68" class="mim-tip-reference" title="Vervoort, R., Islam, M. R., Sly, W., Chabas, A., Wevers, R., de Jong, J., Liebaers, I., Lissens, W. <strong>A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.</strong> Am. J. Hum. Genet. 57: 798-804, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573038</a>]" pmid="7573038">Vervoort et al. (1995)</a> identified a homozygous mutation in the GUSB gene (L176F; <a href="#0012">611499.0012</a>). The patient's unaffected mother had decreased GUSB enzyme activity (6 to 10% of controls) and was found to be compound heterozygous for the L176F allele and a 480G-A transition resulting an asp152-to-asn (D152N) substitution in the GUSB gene. Transfection studies showed that the D152N substitution resulted in decreased enzyme activity (27% of controls) and increased degradation of the protein. <a href="#68" class="mim-tip-reference" title="Vervoort, R., Islam, M. R., Sly, W., Chabas, A., Wevers, R., de Jong, J., Liebaers, I., Lissens, W. <strong>A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.</strong> Am. J. Hum. Genet. 57: 798-804, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573038</a>]" pmid="7573038">Vervoort et al. (1995)</a> referred to D152N as a 'pseudodeficiency allele' that leads to greatly reduced levels of beta-glucuronidase activity without apparent deleterious consequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573038" 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>Using RT-PCR-SSCP and direct sequencing to screen for mutations in the GUSB cDNA, <a href="#69" class="mim-tip-reference" title="Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M.-T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W. <strong>Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.</strong> Am. J. Hum. Genet. 58: 457-471, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644704</a>]" pmid="8644704">Vervoort et al. (1996)</a> studied 17 MPS VII patients with hydrops fetalis or early and severe clinical presentation. In addition to 6 of 12 previously reported mutations, they detected 14 undescribed mutations. The mutations in hydropic fetuses were widely scattered in the GUSB gene. Analysis of 3 polymorphic sites in the mutant alleles allowed exclusion of identity by descent for some recurrent mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644704" 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>Using PCR/SSCP analysis and direct sequencing of the GUSB coding region, <a href="#65" class="mim-tip-reference" title="Vervoort, R., Buist, N. R. M., Kleijer, W. J., Wevers, R., Fryns, J.-P., Liebaers, I., Lissens, W. <strong>Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.</strong> Hum. Genet. 99: 462-468, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099834</a>] [<a href="https://doi.org/10.1007/s004390050389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9099834">Vervoort et al. (1997)</a> detected 5 novel mutations in 5 patients with MPS VII. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099834" 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="#64" class="mim-tip-reference" title="Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S. <strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong> Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.232570999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12403825">Tomatsu et al. (2002)</a> stated that more than 45 different mutations in the GUSB gene had been identified in human patients with MPS VII, approximately 90% of which were point mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12403825" 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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In the mouse, <a href="#41" class="mim-tip-reference" title="Paigen, K., Labarca, C., Watson, G. <strong>A regulatory locus for mouse beta-glucuronidase induction, Gur, controls messenger RNA activity.</strong> Science 203: 554-556, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/760204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">760204</a>] [<a href="https://doi.org/10.1126/science.760204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="760204">Paigen et al. (1979)</a> demonstrated a regulatory locus for beta-glucuronidase, independent of the structural locus. <a href="#42" class="mim-tip-reference" title="Paigen, K. <strong>Acid hydrolases as models of genetic control.</strong> Annu. Rev. Genet. 13: 417-466, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/231933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">231933</a>] [<a href="https://doi.org/10.1146/annurev.ge.13.120179.002221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="231933">Paigen (1979)</a> reviewed the genetic control of acid hydrolases, with particular reference to beta-glucuronidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=231933+760204" 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="Birkenmeier, E. H., Davisson, M. T., Beamer, W. G., Ganschow, R. E., Vogler, C. A., Gwynn, B., Lyford, K. A., Maltais, L. M., Wawrzyniak, C. J. <strong>Murine mucopolysaccharidosis type VII: characterization of a mouse with beta-glucuronidase deficiency.</strong> J. Clin. Invest. 83: 1258-1266, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2495302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2495302</a>] [<a href="https://doi.org/10.1172/JCI114010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2495302">Birkenmeier et al. (1989)</a> characterized a mutant mouse with beta-glucuronidase deficiency behaving as an autosomal recessive. The mutation mapped to the site of the beta-glucuronidase gene complex on the distal end of chromosome 5 of the mouse. Southern blot analysis failed to detect any abnormality in the structural gene or in 17 kb of 5-prime and 4 kb of 3-prime flanking sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2495302" 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="#49" class="mim-tip-reference" title="Sands, M. S., Birkenmeier, E. H. <strong>A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.</strong> Proc. Nat. Acad. Sci. 90: 6567-6571, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8101990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8101990</a>] [<a href="https://doi.org/10.1073/pnas.90.14.6567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8101990">Sands and Birkenmeier (1993)</a> demonstrated that the mutation responsible for MPS VII in the mouse is a 1-bp deletion in exon 10 of the Gusb gene, resulting in a frameshift and premature termination of the protein at codon 497. Insertion of the deleted nucleotide by oligonucleotide site-directed mutagenesis restored function to the mutant gene when transfected into mutant fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8101990" 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="#71" class="mim-tip-reference" title="Vogler, C., Levy, B., Galvin, N., Sands, M. S., Birkenmeier, E. H., Sly, W. S., Barker, J. <strong>A novel model of murine mucopolysaccharidosis type VII due to an intracisternal A particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.</strong> Pediat. Res. 49: 342-348, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228259</a>] [<a href="https://doi.org/10.1203/00006450-200103000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11228259">Vogler et al. (2001)</a> described the clinical and pathologic findings in a murine model of MPS VII that arose spontaneously in the C3H/HeOuJ mouse strain. Affected mice are deficient in beta-glucuronidase because of insertion of an intracisternal A particle element into intron 8 of the gus structural gene. Homozygotes have less than 1% of normal beta-glucuronidase activity. The disease is less severe than that seen in previously described mouse models, and mice are fertile and breed to produce litters, all of which are MPS VII pups. This feature makes them extremely useful for testing intrauterine therapies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228259" 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>To study missense mutant models of murine MPS VII with phenotypes of varying severity, <a href="#64" class="mim-tip-reference" title="Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S. <strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong> Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.232570999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12403825">Tomatsu et al. (2002)</a> used targeted mutagenesis to produce glu536-to-ala (E536A) and glu536-to-gln (E536Q) mutations, corresponding to active-site nucleophile replacements glu540 to ala (E540A) and glu540 to gln (E540Q) in the human GUSB gene, as well as leu175 to phe (L175F), corresponding to the most common human mutation, L176F (<a href="#0012">611499.0012</a>). The E536A mice had no Gusb activity in any tissue and displayed a severe phenotype like that of the MPS VII mice carrying a deletion mutation described by <a href="#6" class="mim-tip-reference" title="Birkenmeier, E. H., Davisson, M. T., Beamer, W. G., Ganschow, R. E., Vogler, C. A., Gwynn, B., Lyford, K. A., Maltais, L. M., Wawrzyniak, C. J. <strong>Murine mucopolysaccharidosis type VII: characterization of a mouse with beta-glucuronidase deficiency.</strong> J. Clin. Invest. 83: 1258-1266, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2495302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2495302</a>] [<a href="https://doi.org/10.1172/JCI114010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2495302">Birkenmeier et al. (1989)</a>. E536Q and L175F mice had low levels of residual enzyme activity and milder phenotypes. All 3 mutant MPS VII models showed progressive lysosomal storage in many tissues but had different rates of accumulation. The amount of urinary glycosaminoglycan excretion paralleled the clinical severity, with urinary glycosaminoglycans markedly higher in E536A mice than in E536Q or L175F mice. Molecular analysis showed that the Gusb mRNA levels were quantitatively similar in the 3 mutant mouse strains and normal mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2495302+12403825" 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="#34" class="mim-tip-reference" title="Meng, X.-L., Shen, J.-S., Kawagoe, S., Ohashi, T., Brady, R. O., Eto, Y. <strong>Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders.</strong> Proc. Nat. Acad. Sci. 107: 7886-7891, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1002758107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20385825">Meng et al. (2010)</a> found that homozygous Mps7 mice were born at less than the expected mendelian ratio. <a href="#34" class="mim-tip-reference" title="Meng, X.-L., Shen, J.-S., Kawagoe, S., Ohashi, T., Brady, R. O., Eto, Y. <strong>Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders.</strong> Proc. Nat. Acad. Sci. 107: 7886-7891, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20385825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20385825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20385825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1002758107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20385825">Meng et al. (2010)</a> developed induced pluripotent stem (iPS) cells from fibroblasts from female Mps7 mice. Mps7 iPS cells grew more slowly and formed embryoid bodies at a slower rate than iPS cell lines developed from wildtype mice and from mouse models of Fabry disease (<a href="/entry/301500">301500</a>) and globoid cell leukodystrophy (<a href="/entry/245200">245200</a>). Embryoid bodies from Mps7 iPS cells showed increased content of hyaluronic acid and increased expression of its cell surface receptor, Cd44 (<a href="/entry/107269">107269</a>), with concomitant reduced expression of E-cadherin (CDH1; <a href="/entry/192090">192090</a>), compared with embryoid bodies from wildtype and Fabry disease iPS cells. Decreased cell number in Mps7 cells appeared to be due to reduced proliferation, which was suggested by elevated Pcna (<a href="/entry/176740">176740</a>) expression, rather than due to caspase (see <a href="/entry/600636">600636</a>) activation and apoptosis. Treatment of Mps7 iPS cells with human GUSB improved embryoid body formation, increased E-cadherin and Pcna expression, and reduced Cd44 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20385825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Bramwell, K. K. C., Ma, Y., Weis, J. H., Chen, X., Zachary, J. F., Teuscher, C., Weis, J. J. <strong>Lysosomal beta-glucuronidase regulates Lyme and rheumatoid arthritis severity.</strong> J. Clin. Invest. 124: 311-320, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24334460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24334460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24334460[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/10.1172/JCI72339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24334460">Bramwell et al. (2014)</a> observed severe arthritis following infection with Borrelia burgdorferi, the causative agent of Lyme disease, in C3H mice, which possess a naturally occurring Gusb hypomorphic allele, and in C57Bl/6 mice congenic for the C3H Gusb hypomorphic allele. Radiation chimera experiments showed that resident radiation-resistant joint cells drove arthritis susceptibility and were unaffected by high Gusb activity in serum. C3H mice expressing wildtype Gusb were protected from severe Lyme-associated arthritis. Gusb deficiency was associated with excessive accumulation of glycosaminoglycans (GAGs) during arthritis development. <a href="#7" class="mim-tip-reference" title="Bramwell, K. K. C., Ma, Y., Weis, J. H., Chen, X., Zachary, J. F., Teuscher, C., Weis, J. J. <strong>Lysosomal beta-glucuronidase regulates Lyme and rheumatoid arthritis severity.</strong> J. Clin. Invest. 124: 311-320, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24334460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24334460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24334460[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/10.1172/JCI72339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24334460">Bramwell et al. (2014)</a> proposed that GUSB modulates arthritis pathogenesis by preventing accumulation of proinflammatory GAGs within inflamed joint tissue, a trait that may be shared by other lysosomal exoglycosidases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24334460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Feline Model</em></strong></p><p>
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<a href="#19" class="mim-tip-reference" title="Gitzelmann, R., Bosshard, N. U., Superti-Furga, A., Spycher, M. A., Briner, J., Wiesmann, U., Lutz, H., Litschi, B. <strong>Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.</strong> Vet. Path. 31: 435-443, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7941232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7941232</a>] [<a href="https://doi.org/10.1177/030098589403100405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7941232">Gitzelmann et al. (1994)</a> described mucopolysaccharidosis VII in a cat. Walking difficulties and an enlarged abdomen had been noted. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7941232" 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="#17" class="mim-tip-reference" title="Fyfe, J. C., Kurzhals, R. L., Lassaline, M. E., Henthorn, P. S., Alur, P. R. K., Wang, P., Wolfe, J. H., Giger, U., Haskins, M. E., Patterson, D. F., Sun, H., Jain, S., Yuhki, N. <strong>Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.</strong> Genomics 58: 121-128, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366443</a>] [<a href="https://doi.org/10.1006/geno.1999.5825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366443">Fyfe et al. (1999)</a> identified and characterized a family of domestic cats with MPS VII. They suggested that the MPS VII cat is a better model for study because of the larger size than the mouse and, relative to the dog, the large body of preexisting literature regarding normal anatomy and physiology of the feline central nervous and visual systems. In their affected cats, beta-glucuronidase activity was undetectable in fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA. Beta-glucuronidase mRNA was normal in affected cat testis by Northern blot analysis. Normal feline beta-glucuronidase cDNA was cloned and characterized, and amplified from affected cat fibroblasts by RT-PCR. They found a G-to-A transition in the affected cat cDNA that predicted a glu351-to-lys substitution, destroyed a BssSI site, and eliminated GUSB enzymatic activity in expression studies. Multiple species comparison and the crystal structure of human beta-glucuronidase indicated that E351 is a highly conserved residue most likely essential in maintenance of the enzyme's conformation. They showed that the affected cats were homozygous and that cats with half-normal beta-glucuronidase activity were heterozygous for the missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Canine Model</em></strong></p><p>
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<a href="#22" class="mim-tip-reference" title="Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., Patterson, D. F. <strong>Mucopolysaccharidosis type VII (Sly syndrome): beta-glucuronidase-deficient mucopolysaccharidosis in the dog.</strong> Am. J. Path. 138: 1553-1555, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1905109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1905109</a>]" pmid="1905109">Haskins et al. (1991)</a> reviewed the features of mucopolysaccharidosis type VII in the dog in which the clinical phenotype most closely resembles the severe form in humans. The disorder was first described in a mixed-breed dog in 1984 (<a href="#23" class="mim-tip-reference" title="Haskins, M. E., Desnick, R. J., DiFerrante, N., Jezyk, P. F., Patterson, D. F. <strong>Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.</strong> Pediat. Res. 18: 980-984, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6436780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6436780</a>] [<a href="https://doi.org/10.1203/00006450-198410000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6436780">Haskins et al., 1984</a>); 19 additional affected dogs had been studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6436780+1905109" 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="#47" class="mim-tip-reference" title="Ray, J., Bouvet, A., DeSanto, C., Fyfe, J. C., Xu, D., Wolfe, J. H., Aguirre, G. D., Patterson, D. F., Haskins, M. E., Henthorn, P. S. <strong>Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.</strong> Genomics 48: 248-253, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9521879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9521879</a>] [<a href="https://doi.org/10.1006/geno.1997.5189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9521879">Ray et al. (1998)</a> isolated and sequenced canine Gusb cDNA from normal and deficient dogs. MPS VII dogs were found to have a 559G-A transition in the Gusb gene, resulting in an arg166-to-his (R166H) substitution. Introduction of the mutation into a mammalian expression vector containing the normal canine Gusb cDNA nearly eliminated enzymatic activity, demonstrating that this mutation is the cause of canine MPS VII. A retroviral vector expressing the full-length canine beta-glucuronidase cDNA corrected the deficiency in MPS VII cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9521879" 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="#48" class="mim-tip-reference" title="Ray, J., Scarpino, V., Laing, C., Haskins, M. E. <strong>Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII.</strong> J. Hered. 90: 119-123, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9987917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9987917</a>] [<a href="https://doi.org/10.1093/jhered/90.1.119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9987917">Ray et al. (1999)</a> measured lysosomal activity of Gusb in normal, homozygous affected, and heterozygous carrier retinal pigment epithelium (RPE) samples from dogs. They found only 2 to 5% and 40 to 60% of Gusb activity in the homozygous affected and heterozygous carrier samples, respectively, compared to normal dogs. The decrease in Gusb activity resulted in storage of glycosaminoglycans (GAGs), predominantly heparan sulfate and chondroitin sulfate. A slight increase in storage of GAGs was also observed in the carrier sample. Northern blot analysis of affected and carrier samples detected a 2.4-kb GUSB transcript similar in size and abundance to that of normal controls. In Western blot analysis using anti-human GUSB antibody, 3 bands were detected in normal samples, which were present at lower intensity in the carrier RPE samples and absent in the MPS VII-affected RPE samples. These results suggested that the mutant GUSB canine gene causes a posttranscriptional defect and produces an unstable protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9987917" 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="#43" class="mim-tip-reference" title="Peck, S. H., Lau, Y. K., Kang, J. L., Lin, M., Arginteanu, T., Matalon, D. R., Bendigo, J. R., O'Donnell, P., Haskins, M. E., Casal, M. L., Smith, L. J. <strong>Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity.</strong> Molec. Genet. Metab. 133: 378-385, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34154922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34154922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34154922">Peck et al. (2021)</a> described progression of vertebral bone disease in the naturally occurring dog model of MPS VII, which has homozygosity for the R166H mutation in the GUSB gene. The MPS VII dogs had progressive decline in mobility starting between 56 and 84 days of age. Secondary ossification was delayed, progressed abnormally in the vertebrae, and was diminished at 365 days of age. Vertebral body length was shorter from 90 days of age onward. Trabecular bone volume fraction and bone mineral density were lower in the vertebrae at 180 and 365 days of age. The growth plates had significantly lower proliferative and hypertrophic zone cellularity at 90 days of age, and at 180 days of age the proliferating chondrocytes exhibited abnormal morphology. Bone-specific serum alkaline phosphatase was significantly lower in the MPS VII dogs compared to controls at 180 days of age, but serum pyridinoline/deoxypyridinoline was not different at any age between the MPS VII dogs and controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34154922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Therapeutic Strategies</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Birkenmeier, E. H., Barker, J. E., Vogler, C. A., Kyle, J. W., Sly, W. S., Gwynn, B., Levy, B., Pegors, C. <strong>Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation.</strong> Blood 78: 3081-3092, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1954394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1954394</a>]" pmid="1954394">Birkenmeier et al. (1991)</a> demonstrated that syngeneic bone marrow transplantation (BMT) increased the life span of mice with beta-glucuronidase deficiency to a value approaching that seen in normal mice and corrected widespread lysosomal storage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1954394" 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="#73" class="mim-tip-reference" title="Wolfe, J. H., Sands, M. S., Barker, J. E., Gwynn, B., Rowe, L. B., Vogler, C. A., Birkenmeier, E. H. <strong>Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer.</strong> Nature 360: 749-753, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1465145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1465145</a>] [<a href="https://doi.org/10.1038/360749a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1465145">Wolfe et al. (1992)</a> showed that retroviral vector-mediated transfer of the Gusb gene to mutant stem cells in a mouse model resulted in long-term expression of low levels of beta-glucuronidase which partially corrected the disease by reducing lysosomal storage in liver and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1465145" 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="#50" class="mim-tip-reference" title="Sands, M. S., Vogler, C., Kyle, J. W., Grubb, J. H., Levy, B., Galvin, N., Sly, W. S., Birkenmeier, E. H. <strong>Enzyme replacement therapy for murine mucopolysaccharidosis type VII.</strong> J. Clin. Invest. 93: 2324-2331, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8200966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8200966</a>] [<a href="https://doi.org/10.1172/JCI117237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8200966">Sands et al. (1994)</a> administered recombinant mouse beta-glucuronidase to newborn mice with MPS VII and found that it was rapidly cleared from the circulation and localized in many tissues. The data showed that recombinant beta-glucuronidase treatment begun in affected newborn mice significantly reduces or prevents the accumulation of lysosomal storage during the first 6 weeks of life. <a href="#51" class="mim-tip-reference" title="Sands, M. S., Vogler, C., Torrey, A., Levy, B., Gwynn, B., Grubb, J., Sly, W. S., Birkenmeier, E. H. <strong>Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation.</strong> J. Clin. Invest. 99: 1596-1605, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9120003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9120003</a>] [<a href="https://doi.org/10.1172/JCI119322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9120003">Sands et al. (1997)</a> compared the effects of long-term enzyme replacement initiated either at birth or at 6 weeks of age, and of enzyme administration initiated at birth followed by syngeneic BMT at 5 weeks of age. Several mice from each treatment group lived to at least 1 year of age. Liver and spleen samples had beta-glucuronidase levels ranging from 2.4 to 19.8% of normal and showed a parallel decrease in lysosomal storage. The combination of enzyme replacement therapy followed by BMT reduced lysosomal distention in meninges, corneal fibroblasts, and bone when compared with treatment with enzyme alone. Mice treated at birth had less lysosomal storage in some neurons of the brain and the skeletal dysplasia was less severe when compared to mice whose treatment was delayed until 6 weeks of age. <a href="#51" class="mim-tip-reference" title="Sands, M. S., Vogler, C., Torrey, A., Levy, B., Gwynn, B., Grubb, J., Sly, W. S., Birkenmeier, E. H. <strong>Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation.</strong> J. Clin. Invest. 99: 1596-1605, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9120003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9120003</a>] [<a href="https://doi.org/10.1172/JCI119322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9120003">Sands et al. (1997)</a> concluded that both enzyme replacement alone and early enzyme replacement followed by BMT have long-term positive effects on murine MPS VII. Treatment started at birth was far more effective than treatment initiated in young adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8200966+9120003" 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="#28" class="mim-tip-reference" title="Kyle, J. W., Birkenmeier, E. H., Gwynn, B., Vogler, C., Hoppe, P. C., Hoffmann, J. W., Sly, W. S. <strong>Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgene.</strong> Proc. Nat. Acad. Sci. 87: 3914-3918, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2111021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2111021</a>] [<a href="https://doi.org/10.1073/pnas.87.10.3914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2111021">Kyle et al. (1990)</a> found that transgenic mice homozygous for a MPS VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal when the human GUSB gene was introduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2111021" 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="#74" class="mim-tip-reference" title="Wolfe, J. H., Schuchman, E. H., Stramm, L. E., Concaugh, E. A., Haskins, M. E., Aguirre, G. D., Patterson, D. F., Desnick, R. J., Gilboa, E. <strong>Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer.</strong> Proc. Nat. Acad. Sci. 87: 2877-2881, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2158095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2158095</a>] [<a href="https://doi.org/10.1073/pnas.87.8.2877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2158095">Wolfe et al. (1990)</a> used retroviral vector-mediated gene transfer to restore normal lysosomal function to human and canine fibroblasts deficient for beta-glucuronidase. The vector-encoded beta-glucuronidase was expressed in the appropriate subcellular organelle and restored normal processing of specific glycosaminoglycans in the lysosomal compartment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2158095" 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 different therapeutic strategy was used by <a href="#37" class="mim-tip-reference" title="Moullier, P., Bohl, D., Heard, J.-M., Danos, O. <strong>Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts.</strong> Nature Genet. 4: 154-159, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8348154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8348154</a>] [<a href="https://doi.org/10.1038/ng0693-154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8348154">Moullier et al. (1993)</a>: autologous implants of genetically modified skin fibroblasts for the continuous in vivo production of the enzyme. The human beta-glucuronidase cDNA was introduced with a retroviral vector into mutant mouse skin fibroblasts grown in primary culture. Fourteen mutant mice were implanted intraperitoneally with these modified cells embedded into collagen lattices. All animals expressed enzyme in the vascularized 'neo-organs' that developed after implantation and accumulated the enzyme in their tissues. Complete disappearance of the lysosomal storage lesions was observed in the liver and spleen. See discussion by <a href="#59" class="mim-tip-reference" title="Sly, W. S. <strong>Gene therapy on the Sly.</strong> Nature Genet. 4: 105-106, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8348142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8348142</a>] [<a href="https://doi.org/10.1038/ng0693-105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8348142">Sly (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8348154+8348142" 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="#32" class="mim-tip-reference" title="Li, T., Davidson, B. L. <strong>Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer.</strong> Proc. Nat. Acad. Sci. 92: 7700-7704, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7644479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7644479</a>] [<a href="https://doi.org/10.1073/pnas.92.17.7700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7644479">Li and Davidson (1995)</a> found that the ocular pathology of MPS VII mouse, i.e., storage granules in the retinal pigment epithelium, was corrected by injecting intravitreally or subretinally into the eyes of mutant mice a recombinant adenovirus carrying the human beta-glucuronidase cDNA coding region under the control of a nontissue-specific promoter. Data indicated that adenovirus-mediated gene therapy to the eye may provide for adjunctive therapy for lysosomal storage diseases affecting the retinal pigment epithelium in conjunction with enzyme replacement and/or gene therapies for correction of systemic disease manifestations. The data also support the view that recombinant adenovirus may be useful as a gene therapy vector for retinal degenerations that result from a primary genetic defect in the RPE cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7644479" 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="#39" class="mim-tip-reference" title="O'Connor, L. H., Erway, L. C., Vogler, C. A., Sly, W. S., Nicholes, A., Grubb, J., Holmberg, S. W., Levy, B., Sands, M. S. <strong>Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function.</strong> J. Clin. Invest. 101: 1394-1400, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525982</a>] [<a href="https://doi.org/10.1172/JCI1773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525982">O'Connor et al. (1998)</a> showed that MPS VII mice receiving weekly intravenous injections of recombinant beta-glucuronidase initiated at birth have a less severe phenotype and show improvements in the histopathology of the brain and ear. They also showed that treated MPS VII mice performed significantly better than untreated MPS VII mice in a spatially oriented learning test. Finally, the hearing deficits observed in untreated MPS VII mice were dramatically reduced after early enzyme replacement therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9525982" 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>For many inborn errors of metabolism, early treatment is critical to the prevention of long-term developmental sequelae. <a href="#12" class="mim-tip-reference" title="Daly, T. M., Vogler, C., Levy, B., Haskins, M. E., Sands, M. S. <strong>Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease.</strong> Proc. Nat. Acad. Sci. 96: 2296-2300, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051635</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10051635[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.5.2296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10051635">Daly et al. (1999)</a> followed this principle in the treatment of MPS VII mice. Newborn MPS VII mice received a single intravenous injection with 5.4 x 10(6) infectious units of recombinant adeno-associated virus encoding the human GUSB cDNA. Therapeutic levels of GUSB expression were achieved by 1 week of age in liver, heart, lung, spleen, kidney, brain, and retina. GUSB expression persisted in most organs for the 16-week duration of the study at levels sufficient to either reduce or prevent completely lysosomal storage. Of particular significance, neurons, microglia, and meninges of the central nervous system were virtually cleared of disease. In addition, neonatal treatment of MPS VII mice provided access to the central nervous system via an intravenous route, avoiding a more invasive procedure later in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051635" 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="#57" class="mim-tip-reference" title="Sly, W. S., Vogler, C., Grubb, J. H., Zhou, M., Jiang, J., Zhou, X. Y., Tomatsu, S., Bi, Y., Snella, E. M. <strong>Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.</strong> Proc. Nat. Acad. Sci. 98: 2205-2210, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11226217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11226217</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11226217[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.051623698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11226217">Sly et al. (2001)</a> produced a transgenic mouse expressing the human beta-glucuronidase cDNA with an amino acid substitution at the active site nucleophile (E540A) and bred it onto the MPS VII (gus mps/mps) background. They demonstrated that the mutant mice bearing the active site mutant human transgene retained the clinical, morphologic, biochemical, and histopathologic characteristics of the original MPS VII mouse. However, the mice were now tolerant to immune challenge with human beta-glucuronidase. The authors stated that this tolerant MPS VII mouse model should be useful for preclinical trials evaluating the effectiveness of enzyme and/or gene therapy with the human gene products likely to be administered to human patients with MPS VII. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11226217" 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="#8" class="mim-tip-reference" title="Brooks, A. I., Stein, C. S., Hughes, S. M., Heth, J., McCray, P. M., Jr., Sauter, S. L., Johnston, J. C., Cory-Slechta, D. A., Federoff, H. J., Davidson, B. L. <strong>Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors.</strong> Proc. Nat. Acad. Sci. 99: 6216-6221, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11959904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11959904</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11959904[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.082011999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11959904">Brooks et al. (2002)</a> found that when recombinant feline immunodeficiency virus (FIV)-based vectors expressing beta-glucuronidase were unilaterally injected into the striatum of adult beta-glucuronidase-deficient MPS VII mice, there was bihemispheric correction of the characteristic cellular pathology. Moreover, after injection of FIV-based vectors expressing beta-glucuronidase into the brains of deficient mice with established impairments in spatial learning and memory, there was dramatic recovery of behavioral function. Cognitive improvement resulting from expression of beta-glucuronidase was associated with alteration in expression of genes associated with neuronal plasticity. These data suggested that enzyme replacement to the MPS VII central nervous system (CNS) goes beyond restoration of beta-glucuronidase activity in the lysosome and imparts improvements in plasticity and spatial learning. <a href="#58" class="mim-tip-reference" title="Sly, W. S., Vogler, C. <strong>Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood-brain barrier. (Commentary)</strong> Proc. Nat. Acad. Sci. 99: 5760-5762, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11983877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11983877</a>] [<a href="https://doi.org/10.1073/pnas.102175599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11983877">Sly and Vogler (2002)</a> commented that, given the rapidly expanding number of animal models of lysosomal storage diseases with CNS involvement, and the generality of the biology of lysosomal enzyme transport, studies like that of <a href="#8" class="mim-tip-reference" title="Brooks, A. I., Stein, C. S., Hughes, S. M., Heth, J., McCray, P. M., Jr., Sauter, S. L., Johnston, J. C., Cory-Slechta, D. A., Federoff, H. J., Davidson, B. L. <strong>Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors.</strong> Proc. Nat. Acad. Sci. 99: 6216-6221, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11959904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11959904</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11959904[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.082011999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11959904">Brooks et al. (2002)</a> are likely to be replicated in other animal models. They suggested that if the results are as promising as those presented for murine MPS VII, the study of <a href="#8" class="mim-tip-reference" title="Brooks, A. I., Stein, C. S., Hughes, S. M., Heth, J., McCray, P. M., Jr., Sauter, S. L., Johnston, J. C., Cory-Slechta, D. A., Federoff, H. J., Davidson, B. L. <strong>Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors.</strong> Proc. Nat. Acad. Sci. 99: 6216-6221, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11959904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11959904</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11959904[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.082011999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11959904">Brooks et al. (2002)</a> will likely be viewed as a landmark that took the field well beyond the blood-brain barrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11983877+11959904" 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 the mouse model of MPS VII, <a href="#24" class="mim-tip-reference" title="Heuer, G. G., Passini, M. A., Jiang, K., Parente, M. K., Lee, V. M.-Y., Trojanowski, J. Q., Wolfe, J. H. <strong>Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible.</strong> Ann. Neurol. 52: 762-770, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447930</a>] [<a href="https://doi.org/10.1002/ana.10373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12447930">Heuer et al. (2002)</a> found that specific regions of the brain are vulnerable to neurodegeneration characterized by the presence of ubiquitin inclusions, neurofilament inclusions, and reactive astrogliosis. The pathologic lesions were found predominantly in the hippocampus and cerebral cortex, and increased progressively with age. Treatment with a recombinant viral vector to correct the enzymatic defect quantitatively reversed the neurodegenerative lesions in targeted regions to normal levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12447930" 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>Moloney murine leukemia virus (MLV)-based retroviral vectors can stably express proteins from liver in rodents, as reviewed by <a href="#46" class="mim-tip-reference" title="Ponder, K. P. <strong>Systemic gene therapy for cardiovascular disease.</strong> Trends Cardiovasc. Med. 9: 158-162, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10639721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10639721</a>] [<a href="https://doi.org/10.1016/s1050-1738(99)00023-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10639721">Ponder (1999)</a>. Although efficient transfer into hepatocytes of adults by using an MLV-based retroviral vector requires induction of replication with hepatocyte growth factor (HGF; <a href="/entry/142409">142409</a>) or other methods, the rapid liver growth allowed transduction to occur without any stimulus for hepatocyte replication in newborn mice and dogs. In what they stated was the first successful application of gene therapy in preventing the clinical manifestations of a lysosomal storage disease in a large animal, <a href="#45" class="mim-tip-reference" title="Ponder, K. P., Melniczek, J. R., Xu, L., Weil, M. A., O'Malley, T. M., O'Donnell, P. A., Knox, V. W., Aguirre, G. D., Mazrier, H., Ellinwood, N. M., Sleeper, M., Maguire, A. M., Volk, S. W., Mango, R. L., Zweigle, J., Wolfe, J. H., Haskins, M. E. <strong>Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs.</strong> Proc. Nat. Acad. Sci. 99: 13102-13107, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12232044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12232044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12232044[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.192353499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12232044">Ponder et al. (2002)</a> reported the clinical improvement seen in 6 MPS VII dogs that were transduced with a GUSB-expressing retroviral vector as neonates and followed for 6 to 17 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10639721+12232044" 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 enzyme replacement therapy for lysosomal storage diseases, infused therapeutic enzymes are targeted to lysosomes of affected cells by interactions with cell surface receptors that recognize carbohydrate moieties, such as mannose and mannose 6-phosphate, on the enzymes. <a href="#31" class="mim-tip-reference" title="LeBowitz, J. H., Grubb, J. H., Maga, J. A., Schmiel, D. H., Vogler, C., Sly, W. S. <strong>Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice.</strong> Proc. Nat. Acad. Sci. 101: 3083-3088, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14976248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14976248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14976248[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0308728100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14976248">LeBowitz et al. (2004)</a> tested an alternative, peptide-based targeting system for delivery of enzymes to lysosomes in a murine MPS VII model. This strategy depended on the interaction of a fragment of insulin-like growth factor II (IGF2; <a href="/entry/147470">147470</a>), with the IGF II binding site on the bifunctional, IGF II cation-independent mannose 6-phosphate receptor (<a href="/entry/147280">147280</a>). A chimeric protein containing a portion of mature human IGF II fused to the C terminus of human beta-glucuronidase was taken up by MPS VII fibroblasts in a mannose 6-phosphate-independent manner, and its uptake was inhibited by the addition of IGF II. Furthermore, the tagged enzyme was delivered effectively to clinically significant tissues in MPS VII mice and was effective in reversing the storage pathology. The tagged enzyme was able to reduce storage in glomerular podocytes and osteoblasts at a dose at which untagged enzyme was much less effective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14976248" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>16 Selected Examples</a>):</strong>
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<a href="/allelicVariants/611499" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611499[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 MUCOPOLYSACCHARIDOSIS, TYPE VII</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> rs121918172 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918172;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/rs121918172?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=rs121918172" 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=rs121918172" 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=RCV000000941 OR RCV004589490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000941, RCV004589490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000941...</a>
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<p>In a 24-year-old Japanese man with mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#62" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T. <strong>Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.</strong> Am. J. Hum. Genet. 48: 89-96, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702266</a>]" pmid="1702266">Tomatsu et al. (1991)</a> identified a homozygous C-to-T transition in the GUSB gene, resulting in an ala619-to-val (A619V) substitution in a highly conserved region among human, rat, and E. coli. In vitro functional expression studies showed that the mutant protein resulted in decreased enzyme activity. The change resulted in loss of the cleavage site for Fnu4HI in the mutated cDNA. The patient had unusual facies, hepatomegaly, umbilical herniation, short stature, slight bone deformity, mental retardation, and coarse metachromatic granules in white blood cells. Beta-glucuronidase activity was about 2% of normal values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MUCOPOLYSACCHARIDOSIS, TYPE VII</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> rs121918173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918173;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/rs121918173?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=rs121918173" 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=rs121918173" 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=RCV000000942 OR RCV000170573" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000942, RCV000170573" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000942...</a>
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<p>In a 7-year-old female with type VII mucopolysaccharidosis (MPS7; <a href="/entry/253220">253220</a>), <a href="#62" class="mim-tip-reference" title="Tomatsu, S., Fukuda, S., Sukegawa, K., Ikedo, Y., Yamada, S., Yamada, Y., Sasaki, T., Okamoto, H., Kuwahara, T., Yamaguchi, S., Kiman, T., Shintaku, H., Isshiki, G., Orii, T. <strong>Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.</strong> Am. J. Hum. Genet. 48: 89-96, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702266</a>]" pmid="1702266">Tomatsu et al. (1991)</a> identified a homozygous C-to-T transition in the GUSB gene, resulting in an arg382-to-cys (R382C) substitution in a highly conserved region among human, rat, and E. coli. In vitro functional expression studies showed that the mutant protein resulted in decreased enzyme activity. She had an umbilical hernia, severe bone deformities, short stature, normal intelligence, no hepatomegaly, normal facies, and no abnormal granules in white blood cells. Beta-glucuronidase activity was about 2% of normal values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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GUSB, ARG216TRP
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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> rs121918174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918174;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/rs121918174?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=rs121918174" 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=rs121918174" 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=RCV000000943 OR RCV004589491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000943, RCV004589491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000943...</a>
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<p>In the patient with nonimmune hydrops fetalis due to beta-glucuronidase deficiency (MPS7; <a href="/entry/253220">253220</a>) reported by <a href="#33" class="mim-tip-reference" title="Lissens, W., Dedobbeleer, G., Foulon, W., De Catte, L., Charels, K., Goossens, A., Liebaers, I. <strong>Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.</strong> Prenatal Diag. 11: 405-410, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1833732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1833732</a>] [<a href="https://doi.org/10.1002/pd.1970110612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1833732">Lissens et al. (1991)</a>, <a href="#70" class="mim-tip-reference" title="Vervoort, R., Lissens, W., Liebaers, I. <strong>Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.</strong> Hum. Mutat. 2: 443-445, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111412</a>] [<a href="https://doi.org/10.1002/humu.1380020604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8111412">Vervoort et al. (1993)</a> identified a heterozygous 672C-T transition within a CpG doublet in exon 4 of the GUSB gene, resulting in an arg216-to-trp (R216W) substitution. The patient inherited the mutation from his father; the other mutation was not identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1833732+8111412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MUCOPOLYSACCHARIDOSIS, TYPE VII</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> rs121918175 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918175;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/rs121918175?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=rs121918175" 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=rs121918175" 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=RCV000000944 OR RCV004766974" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000944, RCV004766974" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000944...</a>
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<p>In a patient with severe mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) as well as nonimmune hydrops fetalis (<a href="#38" class="mim-tip-reference" title="Nelson, A., Peterson, L., Frampton, B., Sly, W. S. <strong>Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis.</strong> J. Pediat. 101: 574-576, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6811712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6811712</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80707-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6811712">Nelson et al., 1982</a>), <a href="#75" class="mim-tip-reference" title="Wu, B. M., Sly, W. S. <strong>Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.</strong> Hum. Mutat. 2: 446-457, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111413</a>] [<a href="https://doi.org/10.1002/humu.1380020605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8111413">Wu and Sly (1993)</a> identified compound heterozygosity for 2 GUSB mutations: a 1061C-T transition in exon 6 resulting in an ala354-to-val substitution (A354V), and a 1831C-T transition in exon 12 resulting in an arg611-to-trp substitution (R611W; <a href="#0005">611499.0005</a>). Cultured fibroblasts from this patient showed less than 1% of residual activity for beta-glucuronidase. Transient expression in COS-7 cells demonstrated that both mutant enzymes were synthesized as normal-size precursors in normal quantities, but both exhibited accelerated turnover. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8111413+6811712" 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> rs121918176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918176;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/rs121918176?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=rs121918176" 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=rs121918176" 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=RCV000000945" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000945" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000945</a>
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<p>For discussion of the arg611-to-trp (R611W) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) by <a href="#75" class="mim-tip-reference" title="Wu, B. M., Sly, W. S. <strong>Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.</strong> Hum. Mutat. 2: 446-457, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111413</a>] [<a href="https://doi.org/10.1002/humu.1380020605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8111413">Wu and Sly (1993)</a>, see <a href="#0004">611499.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8111413" 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 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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GUSB, PRO148SER
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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> rs121918177 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918177;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/rs121918177?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=rs121918177" 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=rs121918177" 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=RCV000000946" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000946" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000946</a>
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<p>In a Caucasian male infant with severe mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#77" class="mim-tip-reference" title="Yamada, S., Tomatsu, S., Sly, W. S., Islam, R., Wenger, D. A., Fukuda, S., Sukegawa, K., Orii, T. <strong>Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5-prime-splice site.</strong> Hum. Molec. Genet. 4: 651-655, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633414</a>] [<a href="https://doi.org/10.1093/hmg/4.4.651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633414">Yamada et al. (1995)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a 442C-T transition in exon 3 resulting in a pro148-to-ser (P148S) substitution, and Y495C (<a href="#0007">611499.0007</a>). The patient was born with severe ascites, hepatosplenomegaly, cholestatic jaundice, and respiratory distress. He died at 19 days of age. Functional expression studies showed a severe reduction of beta-glucuronidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633414" 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> rs121918178 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918178;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/rs121918178?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=rs121918178" 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=rs121918178" 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=RCV000000947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000947</a>
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<p>For discussion of the tyr495-to-cys (Y495C) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) by <a href="#77" class="mim-tip-reference" title="Yamada, S., Tomatsu, S., Sly, W. S., Islam, R., Wenger, D. A., Fukuda, S., Sukegawa, K., Orii, T. <strong>Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5-prime-splice site.</strong> Hum. Molec. Genet. 4: 651-655, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633414</a>] [<a href="https://doi.org/10.1093/hmg/4.4.651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633414">Yamada et al. (1995)</a>, see <a href="#0006">611499.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633414" 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 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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GUSB, TRP507TER
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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> rs121918179 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918179;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/rs121918179?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=rs121918179" 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=rs121918179" 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=RCV000000948 OR RCV004719603" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000948, RCV004719603" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000948...</a>
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<p>In a 2-year-old Caucasian girl with a severe form of mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#77" class="mim-tip-reference" title="Yamada, S., Tomatsu, S., Sly, W. S., Islam, R., Wenger, D. A., Fukuda, S., Sukegawa, K., Orii, T. <strong>Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5-prime-splice site.</strong> Hum. Molec. Genet. 4: 651-655, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633414</a>] [<a href="https://doi.org/10.1093/hmg/4.4.651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633414">Yamada et al. (1995)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a 1521G-A transition in exon 10, resulting in a trp507-to-trp (W507X) substitution, and a 38-bp deletion (<a href="#0009">611499.0009</a>). At birth, she had severe ascites, hepatosplenomegaly, bilateral clubfeet, low-set ears, respiratory distress, and dislocated hips. She did not develop and never left the hospital. The mother had had 2 previous spontaneous abortions. Functional expression studies showed that the mutant proteins had severely decreased enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633414" 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 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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GUSB, 38-BP DEL, NT1642
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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> rs377519272 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs377519272;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/rs377519272?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=rs377519272" 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=rs377519272" 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=RCV000000949" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000949" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000949</a>
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<p>In a Caucasian patient with a severe form of mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#77" class="mim-tip-reference" title="Yamada, S., Tomatsu, S., Sly, W. S., Islam, R., Wenger, D. A., Fukuda, S., Sukegawa, K., Orii, T. <strong>Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5-prime-splice site.</strong> Hum. Molec. Genet. 4: 651-655, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633414</a>] [<a href="https://doi.org/10.1093/hmg/4.4.651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633414">Yamada et al. (1995)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a 38-bp deletion at position 1642-1679 in exon 10 (1642del38nt), and W507X (<a href="#0008">611499.0008</a>). The deletion was caused by a C-to-T transition in exon 10, which together with the previous guanine, created the GT of a new, premature 5-prime splice site. Functional expression studies showed that the mutant proteins had severely decreased enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633414" 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">rs786200863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200863;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=rs786200863" 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=rs786200863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with mild mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#67" class="mim-tip-reference" title="Vervoort, R., Gitzelmann, R., Lissens, W., Liebaers, I. <strong>A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.</strong> Hum. Genet. 103: 686-693, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921904</a>] [<a href="https://doi.org/10.1007/pl00008709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9921904">Vervoort et al. (1998)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a 2-bp deletion in intron 8 inherited from the father, and W446X (<a href="#0011">611499.0011</a>) inherited from the mother. The paternally derived mutation was difficult to detect: extended sequence analysis of the introns to cover all putative lariat branch points and putative G-rich intronic enhancers revealed no nucleotide changes. Analysis of mRNA structure by RT-PCR and direct sequencing revealed the inclusion of a new exon derived from an antisense Alu-repeat in intron 8 and the skipping of exon 9 in a large proportion of the mRNA of this patient. A 2-bp deletion creating a strong 5-prime splice site was subsequently identified (IVS8+0.6kb delTC). With a sensitive RT-PCR assay, <a href="#67" class="mim-tip-reference" title="Vervoort, R., Gitzelmann, R., Lissens, W., Liebaers, I. <strong>A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.</strong> Hum. Genet. 103: 686-693, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921904</a>] [<a href="https://doi.org/10.1007/pl00008709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9921904">Vervoort et al. (1998)</a> demonstrated that both the inclusion of the Alu-cassette and the skipping of exon 9 were minor events in control samples and that mRNA with both alterations was found only in the carrier of the intronic 2-bp deletion. The increased proportion of exon 9 skipping seemed to be related to the premature termination of translation. <a href="#67" class="mim-tip-reference" title="Vervoort, R., Gitzelmann, R., Lissens, W., Liebaers, I. <strong>A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.</strong> Hum. Genet. 103: 686-693, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921904</a>] [<a href="https://doi.org/10.1007/pl00008709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9921904">Vervoort et al. (1998)</a> noted that this was the third report of a human disease mutation that created a splice site and activated an antisense Alu-cassette. The other examples were that of <a href="#36" class="mim-tip-reference" title="Mitchell, G. A., Labuda, D., Fontaine, G., Saudubray, J. M., Bonnefont, J. P., Lyonnet, S., Brody, L. C., Steel, G., Obie, C., Valle, D. <strong>Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.</strong> Proc. Nat. Acad. Sci. 88: 815-819, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1992472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1992472</a>] [<a href="https://doi.org/10.1073/pnas.88.3.815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1992472">Mitchell et al. (1991)</a> in the gene for ornithine aminotransferase (<a href="/entry/613349">613349</a>), found in a case of gyrate atrophy (<a href="/entry/258870">258870</a>), and that of <a href="#25" class="mim-tip-reference" title="Knebelmann, B., Forestier, L., Drouot, L., Quinones, S., Chuet, C., Benessy, F., Saus, J., Antignac, C. <strong>Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.</strong> Hum. Molec. Genet. 4: 675-679, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633417</a>] [<a href="https://doi.org/10.1093/hmg/4.4.675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633417">Knebelmann et al. (1995)</a>, found in the COL4A3 gene in a patient with autosomal recessive Alport syndrome type I (<a href="/entry/120070#0006">120070.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1992472+7633417+9921904" 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">rs121918180 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918180;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=rs121918180" 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=rs121918180" 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=RCV000000952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000952</a>
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<p>In a patient with mild mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#66" class="mim-tip-reference" title="Vervoort, R., Gitzelmann, R., Bosshard, N., Maire, I., Liebaers, I., Lissens, W. <strong>Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.</strong> Hum. Genet. 102: 69-78, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490302</a>] [<a href="https://doi.org/10.1007/s004390050656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490302">Vervoort et al. (1998)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a 1363G-A transition in exon 8, resulting in a trp446-to-ter (W446X) substitution, and a 2-bp deletion in intron 10 (<a href="#0010">611499.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490302" 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> rs121918181 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918181;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/rs121918181?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=rs121918181" 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=rs121918181" 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=RCV000000953 OR RCV000586449 OR RCV000790722 OR RCV003914794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000953, RCV000586449, RCV000790722, RCV003914794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000953...</a>
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<p>In a child with mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#68" class="mim-tip-reference" title="Vervoort, R., Islam, M. R., Sly, W., Chabas, A., Wevers, R., de Jong, J., Liebaers, I., Lissens, W. <strong>A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.</strong> Am. J. Hum. Genet. 57: 798-804, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573038</a>]" pmid="7573038">Vervoort et al. (1995)</a> identified a homozygous 552C-T transition in exon 3 of the GUSB gene, resulting in a leu176-to-phe (L176F) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573038" 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="#64" class="mim-tip-reference" title="Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S. <strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong> Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.232570999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12403825">Tomatsu et al. (2002)</a> stated that the L176F mutation, which was first identified in affected members of a Mennonite family with MPS7 (<a href="#76" class="mim-tip-reference" title="Wu, B. M., Tomatsu, S., Fukuda, S., Sukegawa, K., Orii, T., Sly, W. S. <strong>Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.</strong> J. Biol. Chem. 269: 23681-23688, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8089138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8089138</a>]" pmid="8089138">Wu et al., 1994</a>) and later observed in other populations, accounts for approximately 20% of mutant alleles of the GUSB gene. Most patients homozygous for L176F have a mild phenotype. Cells from L176F patients have less than 1% of normal GUSB activity, but expression of the L176F cDNA in COS cells produces nearly as much enzyme activity as the wildtype control cDNA. <a href="#64" class="mim-tip-reference" title="Tomatsu, S., Orii, K. O., Vogler, C., Grubb, J. H., Snella, E. M., Gutierrez, M. A., Dieter, T., Sukegawa, K., Orii, T., Kondo, N., Sly, W. S. <strong>Missense models [Gus(tm(E536A)Sly), Gus(tm(E536Q)Sly), and Gus(tm(L175F)Sly)] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.</strong> Proc. Nat. Acad. Sci. 99: 14982-14987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12403825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12403825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12403825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.232570999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12403825">Tomatsu et al. (2002)</a> used targeted mutagenesis to produce an L175F mutation in the mouse Gusb gene. The mutant mice had low levels of residual enzyme activity and a milder phenotype than did knockout mice with a glu536-to-ala (E536A) mutation corresponding to E540A in human MPS7. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8089138+12403825" 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="#53" class="mim-tip-reference" title="Schwartz, I., Silva, L. R., Leistner, S., Todeschini, L. A., Burin, M. G., Pina-Neto, J. M., Islam, R. M., Shah, G. N., Sly, W. S., Giugliani, R. <strong>Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. (Letter)</strong> Clin. Genet. 64: 172-175, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12859417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12859417</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00119.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12859417">Schwartz et al. (2003)</a> identified homozygosity for the L176F mutation in a Brazilian family in which 3 brothers were affected with MPS7. Although the 3 brothers had early onset of symptoms with peripheral edema at birth and prolonged neonatal jaundice, the evolution of the disorder in 1 of the brothers, who was still alive at age 18 years and attending a special school, suggested the intermediate form of MPS7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12859417" 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>.0013 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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</h4>
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GUSB, LYS350ASN
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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> rs121918182 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918182;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/rs121918182?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=rs121918182" 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=rs121918182" 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=RCV000000954" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000954" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000954</a>
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<p>In a 37-year-old woman described as the longest known survivor of mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>), <a href="#61" class="mim-tip-reference" title="Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T. <strong>Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.</strong> Hum. Genet. 112: 190-194, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522561</a>] [<a href="https://doi.org/10.1007/s00439-002-0849-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522561">Storch et al. (2003)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: lys350-to-asn (K350N) in exon 6 and arg577-to-leu (R577L; <a href="#0014">611499.0014</a>) in exon 11. She had been reported by <a href="#44" class="mim-tip-reference" title="Pfeiffer, R. A., Kresse, H., Baumer, N., Sattinger, E. <strong>Beta-glucuronidase deficiency in a girl with unusual clinical features.</strong> Europ. J. Pediat. 126: 155-161, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/144057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">144057</a>] [<a href="https://doi.org/10.1007/BF00442197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="144057">Pfeiffer et al. (1977)</a> and had a relatively mild phenotype. She died unexpectedly at the age of 37 years, presumably as a consequence of cardiac arrest. Expression of the K350N mutation in baby hamster kidney cells revealed residual enzymatic activity and normal transport of the enzyme to the lysosome. However, expression of either the R577L or the R577L/K350N mutation resulted in rapid degradation of the enzyme in early biosynthetic compartments and a total loss of enzymatic activity. <a href="#61" class="mim-tip-reference" title="Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T. <strong>Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.</strong> Hum. Genet. 112: 190-194, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522561</a>] [<a href="https://doi.org/10.1007/s00439-002-0849-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522561">Storch et al. (2003)</a> attributed the mild phenotype to the residual catalytic activity provided by the K350N mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12522561+144057" 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="0014" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0014 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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</span>
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</h4>
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GUSB, ARG577LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918183;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=rs121918183" 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=rs121918183" 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=RCV000000950" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000950" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000950</a>
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<p>For discussion of the arg577-to-leu (R577L) mutation in the GUSB gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) by <a href="#61" class="mim-tip-reference" title="Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S., Braulke, T. <strong>Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.</strong> Hum. Genet. 112: 190-194, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522561</a>] [<a href="https://doi.org/10.1007/s00439-002-0849-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522561">Storch et al. (2003)</a>, see <a href="#0013">611499.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522561" 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="0015" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0015 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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</h4>
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GUSB, TRP627CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918184 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918184;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=rs121918184" 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=rs121918184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000955 OR RCV003328549 OR RCV003398406" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000955, RCV003328549, RCV003398406" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000955...</a>
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<p>In the first described patient with mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) (<a href="#56" class="mim-tip-reference" title="Sly, W. S., Quinton, B. A., McAlister, W. H., Rimoin, D. L. <strong>Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis.</strong> J. Pediat. 82: 249-257, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4265197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4265197</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80162-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4265197">Sly et al., 1973</a>), <a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al. (1993)</a> identified compound heterozygosity for 2 mutations in the GUSB gene: a G-to-T transversion in exon 12 resulting in a trp627-to-cys (W627C) substitution, and a C-to-T transition in exon 7 resulting in an arg356-to-ter substitution (R356X; <a href="#0016">611499.0016</a>). Overexpression studies showed that the W627C mutant had 65% residual enzyme activity in COS-7 cells, but 13% residual activity in murine MPS VII cells, which the authors postulated was related to kinetics and alterations in folding. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4265197+7680524" 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="0016" class="mim-anchor"></a>
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<strong>.0016 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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GUSB, ARG356TER
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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> rs121918185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918185;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/rs121918185?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=rs121918185" 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=rs121918185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000956 OR RCV000170582 OR RCV001528837" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000956, RCV000170582, RCV001528837" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000956...</a>
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<p>For discussion of the arg356-to-ter (R356X) mutation in the GUSB gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type VII (MPS7; <a href="/entry/253220">253220</a>) by <a href="#54" class="mim-tip-reference" title="Shipley, J. M., Klinkenberg, M., Wu, B. M., Bachinsky, D. R., Grubb, J. H., Sly, W. S. <strong>Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.</strong> Am. J. Hum. Genet. 52: 517-526, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680524</a>]" pmid="7680524">Shipley et al. (1993)</a>, see <a href="#0015">611499.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680524" 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="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>See Also:</strong>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<a href="#Achord1978" class="mim-tip-reference" title="Achord, D. T., Brot, F. E., Bell, C. E., Sly, W. S. <strong>Human beta-glucuronidase: in vivo and clearance in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells.</strong> Cell 15: 269-278, 1978.">Achord et al. (1978)</a>; <a href="#Bauch1978" class="mim-tip-reference" title="Bauch, W., Hellkuhl, B., Grzeschik, K.-H. <strong>Regional assignment of the gene for human beta-glucuronidase by the use of human-mouse cell hybrids.</strong> Cytogenet. Cell Genet. 22: 434-436, 1978.">Bauch et al. (1978)</a>; <a href="#Benn1977" class="mim-tip-reference" title="Benn, P., Chern, C. J., Bruns, G. A. P., Craig, I. W., Croce, C. M. <strong>Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter-q22 of chromosome 7.</strong> Cytogenet. Cell Genet. 19: 273-280, 1977.">Benn et al. (1977)</a>; <a href="#Brot1974" class="mim-tip-reference" title="Brot, F. E., Glaser, J. H., Roozen, K. J., Sly, W. S. <strong>In vitro correction of deficient human fibroblast by beta-glucuronidase from different human sources.</strong> Biochem. Biophys. Res. Commun. 57: 1-8, 1974.">Brot
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et al. (1974)</a>; <a href="#Chan1976" class="mim-tip-reference" title="Chan, T.-S., Reardon, M. P., Greenstein, R. M. <strong>Somatic cell hybrid assignment of a structural gene for human beta-glucuronidase to chromosome 7 by use of X-7 translocation.</strong> Cytogenet. Cell Genet. 17: 291-295, 1976.">Chan et al. (1976)</a>; <a href="#Chern1976" class="mim-tip-reference" title="Chern, C. J., Croce, C. M. <strong>Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.</strong> Am. J. Hum. Genet. 28: 350-356, 1976.">Chern and Croce (1976)</a>; <a href="#Danesino1981" class="mim-tip-reference" title="Danesino, C., Gimelli, G., Cuoco, C., Ciccone, M. O. <strong>Triplex gene dosage effect for beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.</strong> Hum. Genet. 56: 371-373, 1981.">Danesino
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et al. (1981)</a>; <a href="#Francke1976" class="mim-tip-reference" title="Francke, U. <strong>The human gene for beta glucuronidase is on chromosome 7.</strong> Am. J. Hum. Genet. 28: 357-362, 1976.">Francke (1976)</a>; <a href="#George1978" class="mim-tip-reference" title="George, D. L., Francke, U. <strong>Regional mapping of beta-glucuronidase (GUS) on chromosome 7.</strong> Cytogenet. Cell Genet. 22: 437-440, 1978.">George and Francke (1978)</a>; <a href="#Grzeschik1976" class="mim-tip-reference" title="Grzeschik, K.-H. <strong>Assignment of structural gene for beta-glucuronidase to human chromosome C7.</strong> Somat. Cell Genet. 2: 401-410, 1976.">Grzeschik
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(1976)</a>; <a href="#Lalley1977" class="mim-tip-reference" title="Lalley, P. A., Brown, J. A., Eddy, R. L., Haley, L. L., Byers, M. G., Goggin, A. P., Shows, T. B. <strong>Human beta-glucuronidase: assignment of the structural gene to chromosome 7 using somatic cell hybrids.</strong> Biochem. Genet. 15: 367-382, 1977.">Lalley et al. (1977)</a>; <a href="#Lalley1974" class="mim-tip-reference" title="Lalley, P. A., Shows, T. B. <strong>Lysosomal and microsomal glucuronidase: genetic variant alters electrophoretic mobility of both hydrolases.</strong> Science 185: 442-444, 1974.">Lalley and Shows (1974)</a>; <a href="#Shows1978" class="mim-tip-reference" title="Shows, T. B., Brown, J. A., Haley, L. L., Byers, M. G., Eddy, R. L., Cooper, E. S., Goggin, A. P. <strong>Assignment of the beta-glucuronidase structural gene to the pter to q22 region of chromosome 7 in man.</strong> Cytogenet. Cell Genet. 21: 99-104, 1978.">Shows et al.
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(1978)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1016/0092-8674(78)90102-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320290307" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000130990" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000130820" target="_blank">Full Text</a>]
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<a id="Birkenmeier1991" class="mim-anchor"></a>
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<a id="Birkenmeier1989" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1172/JCI114010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI72339" target="_blank">Full Text</a>]
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Brooks, A. I., Stein, C. S., Hughes, S. M., Heth, J., McCray, P. M., Jr., Sauter, S. L., Johnston, J. C., Cory-Slechta, D. A., Federoff, H. J., Davidson, B. L.
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[<a href="https://doi.org/10.1073/pnas.082011999" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(74)80349-9" target="_blank">Full Text</a>]
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<strong>Somatic cell hybrid assignment of a structural gene for human beta-glucuronidase to chromosome 7 by use of X-7 translocation.</strong>
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[<a href="https://doi.org/10.1159/000130725" target="_blank">Full Text</a>]
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<strong>Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.</strong>
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<a id="Daly1999" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1073/pnas.96.5.2296" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Danesino1981" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1007/BF00274695" target="_blank">Full Text</a>]
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<a id="Fagan1989" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1136/jmg.26.10.619" target="_blank">Full Text</a>]
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<a id="Francke1976" class="mim-anchor"></a>
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<a id="Frydman1986" class="mim-anchor"></a>
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Frydman, M., Steinberger, J., Shabtai, F., Steinherz, R.
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<strong>Interstitial 7q deletion [46,XY,del(7)(pter-cen:q112-qter)] in a retarded quadriplegic boy with normal beta-glucuronidase.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320250208" target="_blank">Full Text</a>]
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<a id="Fyfe1999" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1006/geno.1999.5825" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.1002758107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90552-6" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9921904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9921904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9921904" 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/pl00008709" target="_blank">Full Text</a>]
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<a id="68" class="mim-anchor"></a>
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<a id="Vervoort1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vervoort, R., Islam, M. R., Sly, W., Chabas, A., Wevers, R., de Jong, J., Liebaers, I., Lissens, W.
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<strong>A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.</strong>
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Am. J. Hum. Genet. 57: 798-804, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="69" class="mim-anchor"></a>
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<a id="Vervoort1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M.-T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W.
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<strong>Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="70" class="mim-anchor"></a>
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<a id="Vervoort1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vervoort, R., Lissens, W., Liebaers, I.
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<strong>Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.</strong>
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Hum. Mutat. 2: 443-445, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8111412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1380020604" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="71" class="mim-anchor"></a>
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<a id="Vogler2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vogler, C., Levy, B., Galvin, N., Sands, M. S., Birkenmeier, E. H., Sly, W. S., Barker, J.
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<strong>A novel model of murine mucopolysaccharidosis type VII due to an intracisternal A particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.</strong>
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Pediat. Res. 49: 342-348, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228259" 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/10.1203/00006450-200103000-00007" target="_blank">Full Text</a>]
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<a id="72" class="mim-anchor"></a>
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<a id="Ward1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ward, J. C., Sharpe, C. R., Luthardt, F. W., Martens, P. R., Palmer, C. G.
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<strong>Regional gene mapping of human beta-glucuronidase (GUSB) by dosage analysis: assignment to region 7q11.23-7q21. (Abstract)</strong>
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Am. J. Hum. Genet. 35: 56A, 1983.
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</p>
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<li>
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<a id="73" class="mim-anchor"></a>
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<a id="Wolfe1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolfe, J. H., Sands, M. S., Barker, J. E., Gwynn, B., Rowe, L. B., Vogler, C. A., Birkenmeier, E. H.
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<strong>Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer.</strong>
|
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Nature 360: 749-753, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1465145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1465145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1465145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/360749a0" target="_blank">Full Text</a>]
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<li>
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<a id="74" class="mim-anchor"></a>
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<a id="Wolfe1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolfe, J. H., Schuchman, E. H., Stramm, L. E., Concaugh, E. A., Haskins, M. E., Aguirre, G. D., Patterson, D. F., Desnick, R. J., Gilboa, E.
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<strong>Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer.</strong>
|
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Proc. Nat. Acad. Sci. 87: 2877-2881, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2158095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2158095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2158095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.8.2877" target="_blank">Full Text</a>]
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<li>
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<a id="75" class="mim-anchor"></a>
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<a id="Wu1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, B. M., Sly, W. S.
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<strong>Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.</strong>
|
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Hum. Mutat. 2: 446-457, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8111413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8111413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8111413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1380020605" target="_blank">Full Text</a>]
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<a id="76" class="mim-anchor"></a>
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<a id="Wu1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, B. M., Tomatsu, S., Fukuda, S., Sukegawa, K., Orii, T., Sly, W. S.
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<strong>Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.</strong>
|
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J. Biol. Chem. 269: 23681-23688, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8089138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8089138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8089138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="77" class="mim-anchor"></a>
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<a id="Yamada1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamada, S., Tomatsu, S., Sly, W. S., Islam, R., Wenger, D. A., Fukuda, S., Sukegawa, K., Orii, T.
|
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<strong>Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5-prime-splice site.</strong>
|
|
Hum. Molec. Genet. 4: 651-655, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633414" 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/4.4.651" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/08/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 2/26/2015<br>Patricia A. Hartz - updated : 6/8/2011<br>Cassandra L. Kniffin - updated : 1/19/2011
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 10/3/2007
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/01/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2022<br>carol : 10/08/2021<br>carol : 07/18/2017<br>alopez : 07/17/2017<br>carol : 08/04/2016<br>alopez : 03/12/2015<br>alopez : 3/12/2015<br>mgross : 3/9/2015<br>mcolton : 2/26/2015<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>carol : 9/13/2013<br>alopez : 5/15/2012<br>mgross : 6/8/2011<br>wwang : 2/3/2011<br>ckniffin : 1/19/2011<br>carol : 4/9/2010<br>carol : 10/10/2007<br>ckniffin : 10/5/2007
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611499
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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BETA-GLUCURONIDASE; GUSB
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GUSB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124470009, 43916004;
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<strong>ICD10CM:</strong> E76.29;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 7q11.21
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:65,960,684-65,982,213 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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|
Location
|
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</th>
|
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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7q11.21
|
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</span>
|
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</td>
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|
|
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<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis VII
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
253220
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The GUSB gene encodes beta-glucuronidase (EC 3.2.1.31), a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (summary by Shipley et al., 1993). It is a tetrameric glycoprotein composed of identical subunits (summary by Oshima et al., 1987). </p>
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<strong>Cloning and Expression</strong>
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<p>Guise et al. (1985) isolated human cDNA clones corresponding to the GUSB gene from a transformed human fibroblast cDNA library. Oshima et al. (1987) isolated a cDNA corresponding to the beta-glucuronidase gene from a human placenta library. The deduced mature 629-residue protein has a calculated molecular mass of approximately 72.6 kD with 4 potential N-linked glycosylation sites. There appeared to be 2 populations of mRNA for beta-glucuronidase in human placenta, only one of which specifies an active enzyme. Tomatsu et al. (2009) noted that after cleavage of a 22-amino acid N-terminal signal peptide and glycosylation, the 78-kD monomer is transported to lysosomes and cleaved in the lysosome to become the 60-kD and 18-kD subunits of the mature active enzyme. </p>
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<strong>Gene Structure</strong>
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<p>Miller et al. (1990) reported that the GUSB gene is 21 kb long and contains 12 exons. Two types of cDNAs arise, apparently through alternate splicing; exon 6 corresponds to the 153-bp deletion in the shorter of the 2 types. </p>
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<strong>Mapping</strong>
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<p>Knowles et al. (1977) concluded that the GUSB locus is on the long arm of chromosome 7. Ward et al. (1983) assigned the GUSB locus to 7q11.23-q21 by dosage analysis of chromosomal aberrations. </p><p>Speleman et al. (1996) used fluorescence in situ hybridization to map the GUSB gene to 7q11.21-q11.22. This map position was confirmed by dual color hybridization of beta-glucuronidase and elastin (ELN; 130160); GUSB mapped proximal to elastin. which is at 7q11.23. </p><p><strong><em>Pseudogenes</em></strong></p><p>
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Shipley et al. (1993) detected several different GUSB pseudogenes during amplification of exons 2-4, 3, 6-7, and 11. The pseudogenes were located on chromosomes 5, 6, 7, 20, 22, and Y. </p><p>Speleman et al. (1996) detected minor hybridization signals for GUSB on chromosome 5p13 and 5q13, indicating the presence of pseudogenes at these locations. The authors stated that fluorescence in situ hybridization may be the most reliable method to assign the GUSB locus, since other molecular studies are hampered by atypical pseudogene sequences containing fragments related to GUSB. </p><p><strong><em>Mapping by Cytogenetic Studies</em></strong></p><p>
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Frydman et al. (1986) described a 14-year-old severely retarded male with deletion of the cen-q11.2 segment of chromosome 7. Beta-glucuronidase was normal. The previous SRO had been 7cen-q22. The new finding seemed to narrow the assignment to 7q11.2-q22. </p><p>By exclusion-deletion mapping, Allanson et al. (1988) narrowed the assignment of the GUSB locus to 7q21.1-q22. They studied an 8-year-old boy who presented with some manifestations similar to MPS VII, including mental retardation, short stature, 'coarse' facial appearance, and mild skeletal involvement, but other discrepant abnormalities, such as iris coloboma and cleft palate. Normal activity of beta-glucuronidase was found in the patient's leukocytes. Chromosome analysis disclosed an interstitial deletion of 7q between bands 11.22 and 11.23 and the other breakpoint within band 21.1. The findings suggested that the GUSB locus was not in the portion of chromosome 7 deleted in this patient, thus narrowing the gene assignment to 7q21.1-q22. </p><p>Fagan et al. (1989) studied 3 patients with different de novo interstitial deletions of 7q. Analysis of beta-glucuronidase levels in blood leukocytes permitted assignment of the locus to 7q21.11 or 7q22.1. Schwartz et al. (1991) mapped GUSB to 7q21.11 by study of a case of interstitial deletion. </p>
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<strong>Gene Function</strong>
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<p>Kreamer et al. (2001) identified L-aspartic acid as an inhibitor of beta-glucuronidase. The authors isolated L-aspartic acid from hydrolyzed casein and infant formulas. The findings provided an explanation for the observation that infants who consume casein hydrolase formula have been shown to have lower neonatal jaundice compared to those who consume breast milk or routine formula. Beta-glucuronic acid acts naturally to cleave glucuronides from conjugated bilirubin to produce unconjugated bilirubin, which is then absorbed into the bloodstream. Kreamer et al. (2001) postulated that the beta-glucuronidase inhibitor L-aspartic acid can thus block enterohepatic circulation of bilirubin. </p>
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<strong>Molecular Genetics</strong>
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<p>Tomatsu et al. (2009) provided a review of mutations in the GUSB gene that cause MPS type VII (MPS7; 253220). Forty-nine different pathogenic mutations have been reported in the literature, most of which are missense mutations; approximately 40% of these occur at CpG sites within the gene. The most common mutation is L176F (611499.0012), which has been found in various populations. Genotype/phenotype analysis indicated that the more severe phenotype was associated with truncating mutations (see, e.g., W507X; 611499.0008) and with mutations affecting the hydrophobic core or modification of packing (see, e.g., R216W, 611499.0003; P148S, 611499.0006; and Y495C, 611499.0007). </p><p>In 2 unrelated Japanese patients with MPS VII, Tomatsu et al. (1991) identified 2 different homozygous mutations in the GUSB gene (611499.0001 and 611499.0002, respectively). </p><p>In the first reported patient with MPS VII (Sly et al., 1973), Shipley et al. (1993) identified compound heterozygosity for 2 mutations in the GUSB gene (611499.0015; 611499.0016). Shipley et al. (1993) noted that the presence of multiple GUSB pseudogenes rendered molecular analysis 'quite formidable.' </p><p>In a child with MPS VII, Vervoort et al. (1995) identified a homozygous mutation in the GUSB gene (L176F; 611499.0012). The patient's unaffected mother had decreased GUSB enzyme activity (6 to 10% of controls) and was found to be compound heterozygous for the L176F allele and a 480G-A transition resulting an asp152-to-asn (D152N) substitution in the GUSB gene. Transfection studies showed that the D152N substitution resulted in decreased enzyme activity (27% of controls) and increased degradation of the protein. Vervoort et al. (1995) referred to D152N as a 'pseudodeficiency allele' that leads to greatly reduced levels of beta-glucuronidase activity without apparent deleterious consequences. </p><p>Using RT-PCR-SSCP and direct sequencing to screen for mutations in the GUSB cDNA, Vervoort et al. (1996) studied 17 MPS VII patients with hydrops fetalis or early and severe clinical presentation. In addition to 6 of 12 previously reported mutations, they detected 14 undescribed mutations. The mutations in hydropic fetuses were widely scattered in the GUSB gene. Analysis of 3 polymorphic sites in the mutant alleles allowed exclusion of identity by descent for some recurrent mutations. </p><p>Using PCR/SSCP analysis and direct sequencing of the GUSB coding region, Vervoort et al. (1997) detected 5 novel mutations in 5 patients with MPS VII. </p><p>Tomatsu et al. (2002) stated that more than 45 different mutations in the GUSB gene had been identified in human patients with MPS VII, approximately 90% of which were point mutations. </p>
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<strong>Animal Model</strong>
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<p><strong><em>Mouse Model</em></strong></p><p>
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In the mouse, Paigen et al. (1979) demonstrated a regulatory locus for beta-glucuronidase, independent of the structural locus. Paigen (1979) reviewed the genetic control of acid hydrolases, with particular reference to beta-glucuronidase. </p><p>Birkenmeier et al. (1989) characterized a mutant mouse with beta-glucuronidase deficiency behaving as an autosomal recessive. The mutation mapped to the site of the beta-glucuronidase gene complex on the distal end of chromosome 5 of the mouse. Southern blot analysis failed to detect any abnormality in the structural gene or in 17 kb of 5-prime and 4 kb of 3-prime flanking sequences. </p><p>Sands and Birkenmeier (1993) demonstrated that the mutation responsible for MPS VII in the mouse is a 1-bp deletion in exon 10 of the Gusb gene, resulting in a frameshift and premature termination of the protein at codon 497. Insertion of the deleted nucleotide by oligonucleotide site-directed mutagenesis restored function to the mutant gene when transfected into mutant fibroblasts. </p><p>Vogler et al. (2001) described the clinical and pathologic findings in a murine model of MPS VII that arose spontaneously in the C3H/HeOuJ mouse strain. Affected mice are deficient in beta-glucuronidase because of insertion of an intracisternal A particle element into intron 8 of the gus structural gene. Homozygotes have less than 1% of normal beta-glucuronidase activity. The disease is less severe than that seen in previously described mouse models, and mice are fertile and breed to produce litters, all of which are MPS VII pups. This feature makes them extremely useful for testing intrauterine therapies. </p><p>To study missense mutant models of murine MPS VII with phenotypes of varying severity, Tomatsu et al. (2002) used targeted mutagenesis to produce glu536-to-ala (E536A) and glu536-to-gln (E536Q) mutations, corresponding to active-site nucleophile replacements glu540 to ala (E540A) and glu540 to gln (E540Q) in the human GUSB gene, as well as leu175 to phe (L175F), corresponding to the most common human mutation, L176F (611499.0012). The E536A mice had no Gusb activity in any tissue and displayed a severe phenotype like that of the MPS VII mice carrying a deletion mutation described by Birkenmeier et al. (1989). E536Q and L175F mice had low levels of residual enzyme activity and milder phenotypes. All 3 mutant MPS VII models showed progressive lysosomal storage in many tissues but had different rates of accumulation. The amount of urinary glycosaminoglycan excretion paralleled the clinical severity, with urinary glycosaminoglycans markedly higher in E536A mice than in E536Q or L175F mice. Molecular analysis showed that the Gusb mRNA levels were quantitatively similar in the 3 mutant mouse strains and normal mice. </p><p>Meng et al. (2010) found that homozygous Mps7 mice were born at less than the expected mendelian ratio. Meng et al. (2010) developed induced pluripotent stem (iPS) cells from fibroblasts from female Mps7 mice. Mps7 iPS cells grew more slowly and formed embryoid bodies at a slower rate than iPS cell lines developed from wildtype mice and from mouse models of Fabry disease (301500) and globoid cell leukodystrophy (245200). Embryoid bodies from Mps7 iPS cells showed increased content of hyaluronic acid and increased expression of its cell surface receptor, Cd44 (107269), with concomitant reduced expression of E-cadherin (CDH1; 192090), compared with embryoid bodies from wildtype and Fabry disease iPS cells. Decreased cell number in Mps7 cells appeared to be due to reduced proliferation, which was suggested by elevated Pcna (176740) expression, rather than due to caspase (see 600636) activation and apoptosis. Treatment of Mps7 iPS cells with human GUSB improved embryoid body formation, increased E-cadherin and Pcna expression, and reduced Cd44 expression. </p><p>Bramwell et al. (2014) observed severe arthritis following infection with Borrelia burgdorferi, the causative agent of Lyme disease, in C3H mice, which possess a naturally occurring Gusb hypomorphic allele, and in C57Bl/6 mice congenic for the C3H Gusb hypomorphic allele. Radiation chimera experiments showed that resident radiation-resistant joint cells drove arthritis susceptibility and were unaffected by high Gusb activity in serum. C3H mice expressing wildtype Gusb were protected from severe Lyme-associated arthritis. Gusb deficiency was associated with excessive accumulation of glycosaminoglycans (GAGs) during arthritis development. Bramwell et al. (2014) proposed that GUSB modulates arthritis pathogenesis by preventing accumulation of proinflammatory GAGs within inflamed joint tissue, a trait that may be shared by other lysosomal exoglycosidases. </p><p><strong><em>Feline Model</em></strong></p><p>
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Gitzelmann et al. (1994) described mucopolysaccharidosis VII in a cat. Walking difficulties and an enlarged abdomen had been noted. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. </p><p>Fyfe et al. (1999) identified and characterized a family of domestic cats with MPS VII. They suggested that the MPS VII cat is a better model for study because of the larger size than the mouse and, relative to the dog, the large body of preexisting literature regarding normal anatomy and physiology of the feline central nervous and visual systems. In their affected cats, beta-glucuronidase activity was undetectable in fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA. Beta-glucuronidase mRNA was normal in affected cat testis by Northern blot analysis. Normal feline beta-glucuronidase cDNA was cloned and characterized, and amplified from affected cat fibroblasts by RT-PCR. They found a G-to-A transition in the affected cat cDNA that predicted a glu351-to-lys substitution, destroyed a BssSI site, and eliminated GUSB enzymatic activity in expression studies. Multiple species comparison and the crystal structure of human beta-glucuronidase indicated that E351 is a highly conserved residue most likely essential in maintenance of the enzyme's conformation. They showed that the affected cats were homozygous and that cats with half-normal beta-glucuronidase activity were heterozygous for the missense mutation. </p><p><strong><em>Canine Model</em></strong></p><p>
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Haskins et al. (1991) reviewed the features of mucopolysaccharidosis type VII in the dog in which the clinical phenotype most closely resembles the severe form in humans. The disorder was first described in a mixed-breed dog in 1984 (Haskins et al., 1984); 19 additional affected dogs had been studied. </p><p>Ray et al. (1998) isolated and sequenced canine Gusb cDNA from normal and deficient dogs. MPS VII dogs were found to have a 559G-A transition in the Gusb gene, resulting in an arg166-to-his (R166H) substitution. Introduction of the mutation into a mammalian expression vector containing the normal canine Gusb cDNA nearly eliminated enzymatic activity, demonstrating that this mutation is the cause of canine MPS VII. A retroviral vector expressing the full-length canine beta-glucuronidase cDNA corrected the deficiency in MPS VII cells. </p><p>Ray et al. (1999) measured lysosomal activity of Gusb in normal, homozygous affected, and heterozygous carrier retinal pigment epithelium (RPE) samples from dogs. They found only 2 to 5% and 40 to 60% of Gusb activity in the homozygous affected and heterozygous carrier samples, respectively, compared to normal dogs. The decrease in Gusb activity resulted in storage of glycosaminoglycans (GAGs), predominantly heparan sulfate and chondroitin sulfate. A slight increase in storage of GAGs was also observed in the carrier sample. Northern blot analysis of affected and carrier samples detected a 2.4-kb GUSB transcript similar in size and abundance to that of normal controls. In Western blot analysis using anti-human GUSB antibody, 3 bands were detected in normal samples, which were present at lower intensity in the carrier RPE samples and absent in the MPS VII-affected RPE samples. These results suggested that the mutant GUSB canine gene causes a posttranscriptional defect and produces an unstable protein. </p><p>Peck et al. (2021) described progression of vertebral bone disease in the naturally occurring dog model of MPS VII, which has homozygosity for the R166H mutation in the GUSB gene. The MPS VII dogs had progressive decline in mobility starting between 56 and 84 days of age. Secondary ossification was delayed, progressed abnormally in the vertebrae, and was diminished at 365 days of age. Vertebral body length was shorter from 90 days of age onward. Trabecular bone volume fraction and bone mineral density were lower in the vertebrae at 180 and 365 days of age. The growth plates had significantly lower proliferative and hypertrophic zone cellularity at 90 days of age, and at 180 days of age the proliferating chondrocytes exhibited abnormal morphology. Bone-specific serum alkaline phosphatase was significantly lower in the MPS VII dogs compared to controls at 180 days of age, but serum pyridinoline/deoxypyridinoline was not different at any age between the MPS VII dogs and controls. </p><p><strong><em>Therapeutic Strategies</em></strong></p><p>
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Birkenmeier et al. (1991) demonstrated that syngeneic bone marrow transplantation (BMT) increased the life span of mice with beta-glucuronidase deficiency to a value approaching that seen in normal mice and corrected widespread lysosomal storage. </p><p>Wolfe et al. (1992) showed that retroviral vector-mediated transfer of the Gusb gene to mutant stem cells in a mouse model resulted in long-term expression of low levels of beta-glucuronidase which partially corrected the disease by reducing lysosomal storage in liver and spleen. </p><p>Sands et al. (1994) administered recombinant mouse beta-glucuronidase to newborn mice with MPS VII and found that it was rapidly cleared from the circulation and localized in many tissues. The data showed that recombinant beta-glucuronidase treatment begun in affected newborn mice significantly reduces or prevents the accumulation of lysosomal storage during the first 6 weeks of life. Sands et al. (1997) compared the effects of long-term enzyme replacement initiated either at birth or at 6 weeks of age, and of enzyme administration initiated at birth followed by syngeneic BMT at 5 weeks of age. Several mice from each treatment group lived to at least 1 year of age. Liver and spleen samples had beta-glucuronidase levels ranging from 2.4 to 19.8% of normal and showed a parallel decrease in lysosomal storage. The combination of enzyme replacement therapy followed by BMT reduced lysosomal distention in meninges, corneal fibroblasts, and bone when compared with treatment with enzyme alone. Mice treated at birth had less lysosomal storage in some neurons of the brain and the skeletal dysplasia was less severe when compared to mice whose treatment was delayed until 6 weeks of age. Sands et al. (1997) concluded that both enzyme replacement alone and early enzyme replacement followed by BMT have long-term positive effects on murine MPS VII. Treatment started at birth was far more effective than treatment initiated in young adults. </p><p>Kyle et al. (1990) found that transgenic mice homozygous for a MPS VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal when the human GUSB gene was introduced. </p><p>Wolfe et al. (1990) used retroviral vector-mediated gene transfer to restore normal lysosomal function to human and canine fibroblasts deficient for beta-glucuronidase. The vector-encoded beta-glucuronidase was expressed in the appropriate subcellular organelle and restored normal processing of specific glycosaminoglycans in the lysosomal compartment. </p><p>A different therapeutic strategy was used by Moullier et al. (1993): autologous implants of genetically modified skin fibroblasts for the continuous in vivo production of the enzyme. The human beta-glucuronidase cDNA was introduced with a retroviral vector into mutant mouse skin fibroblasts grown in primary culture. Fourteen mutant mice were implanted intraperitoneally with these modified cells embedded into collagen lattices. All animals expressed enzyme in the vascularized 'neo-organs' that developed after implantation and accumulated the enzyme in their tissues. Complete disappearance of the lysosomal storage lesions was observed in the liver and spleen. See discussion by Sly (1993). </p><p>Li and Davidson (1995) found that the ocular pathology of MPS VII mouse, i.e., storage granules in the retinal pigment epithelium, was corrected by injecting intravitreally or subretinally into the eyes of mutant mice a recombinant adenovirus carrying the human beta-glucuronidase cDNA coding region under the control of a nontissue-specific promoter. Data indicated that adenovirus-mediated gene therapy to the eye may provide for adjunctive therapy for lysosomal storage diseases affecting the retinal pigment epithelium in conjunction with enzyme replacement and/or gene therapies for correction of systemic disease manifestations. The data also support the view that recombinant adenovirus may be useful as a gene therapy vector for retinal degenerations that result from a primary genetic defect in the RPE cells. </p><p>O'Connor et al. (1998) showed that MPS VII mice receiving weekly intravenous injections of recombinant beta-glucuronidase initiated at birth have a less severe phenotype and show improvements in the histopathology of the brain and ear. They also showed that treated MPS VII mice performed significantly better than untreated MPS VII mice in a spatially oriented learning test. Finally, the hearing deficits observed in untreated MPS VII mice were dramatically reduced after early enzyme replacement therapy. </p><p>For many inborn errors of metabolism, early treatment is critical to the prevention of long-term developmental sequelae. Daly et al. (1999) followed this principle in the treatment of MPS VII mice. Newborn MPS VII mice received a single intravenous injection with 5.4 x 10(6) infectious units of recombinant adeno-associated virus encoding the human GUSB cDNA. Therapeutic levels of GUSB expression were achieved by 1 week of age in liver, heart, lung, spleen, kidney, brain, and retina. GUSB expression persisted in most organs for the 16-week duration of the study at levels sufficient to either reduce or prevent completely lysosomal storage. Of particular significance, neurons, microglia, and meninges of the central nervous system were virtually cleared of disease. In addition, neonatal treatment of MPS VII mice provided access to the central nervous system via an intravenous route, avoiding a more invasive procedure later in life. </p><p>Sly et al. (2001) produced a transgenic mouse expressing the human beta-glucuronidase cDNA with an amino acid substitution at the active site nucleophile (E540A) and bred it onto the MPS VII (gus mps/mps) background. They demonstrated that the mutant mice bearing the active site mutant human transgene retained the clinical, morphologic, biochemical, and histopathologic characteristics of the original MPS VII mouse. However, the mice were now tolerant to immune challenge with human beta-glucuronidase. The authors stated that this tolerant MPS VII mouse model should be useful for preclinical trials evaluating the effectiveness of enzyme and/or gene therapy with the human gene products likely to be administered to human patients with MPS VII. </p><p>Brooks et al. (2002) found that when recombinant feline immunodeficiency virus (FIV)-based vectors expressing beta-glucuronidase were unilaterally injected into the striatum of adult beta-glucuronidase-deficient MPS VII mice, there was bihemispheric correction of the characteristic cellular pathology. Moreover, after injection of FIV-based vectors expressing beta-glucuronidase into the brains of deficient mice with established impairments in spatial learning and memory, there was dramatic recovery of behavioral function. Cognitive improvement resulting from expression of beta-glucuronidase was associated with alteration in expression of genes associated with neuronal plasticity. These data suggested that enzyme replacement to the MPS VII central nervous system (CNS) goes beyond restoration of beta-glucuronidase activity in the lysosome and imparts improvements in plasticity and spatial learning. Sly and Vogler (2002) commented that, given the rapidly expanding number of animal models of lysosomal storage diseases with CNS involvement, and the generality of the biology of lysosomal enzyme transport, studies like that of Brooks et al. (2002) are likely to be replicated in other animal models. They suggested that if the results are as promising as those presented for murine MPS VII, the study of Brooks et al. (2002) will likely be viewed as a landmark that took the field well beyond the blood-brain barrier. </p><p>In the mouse model of MPS VII, Heuer et al. (2002) found that specific regions of the brain are vulnerable to neurodegeneration characterized by the presence of ubiquitin inclusions, neurofilament inclusions, and reactive astrogliosis. The pathologic lesions were found predominantly in the hippocampus and cerebral cortex, and increased progressively with age. Treatment with a recombinant viral vector to correct the enzymatic defect quantitatively reversed the neurodegenerative lesions in targeted regions to normal levels. </p><p>Moloney murine leukemia virus (MLV)-based retroviral vectors can stably express proteins from liver in rodents, as reviewed by Ponder (1999). Although efficient transfer into hepatocytes of adults by using an MLV-based retroviral vector requires induction of replication with hepatocyte growth factor (HGF; 142409) or other methods, the rapid liver growth allowed transduction to occur without any stimulus for hepatocyte replication in newborn mice and dogs. In what they stated was the first successful application of gene therapy in preventing the clinical manifestations of a lysosomal storage disease in a large animal, Ponder et al. (2002) reported the clinical improvement seen in 6 MPS VII dogs that were transduced with a GUSB-expressing retroviral vector as neonates and followed for 6 to 17 months. </p><p>In enzyme replacement therapy for lysosomal storage diseases, infused therapeutic enzymes are targeted to lysosomes of affected cells by interactions with cell surface receptors that recognize carbohydrate moieties, such as mannose and mannose 6-phosphate, on the enzymes. LeBowitz et al. (2004) tested an alternative, peptide-based targeting system for delivery of enzymes to lysosomes in a murine MPS VII model. This strategy depended on the interaction of a fragment of insulin-like growth factor II (IGF2; 147470), with the IGF II binding site on the bifunctional, IGF II cation-independent mannose 6-phosphate receptor (147280). A chimeric protein containing a portion of mature human IGF II fused to the C terminus of human beta-glucuronidase was taken up by MPS VII fibroblasts in a mannose 6-phosphate-independent manner, and its uptake was inhibited by the addition of IGF II. Furthermore, the tagged enzyme was delivered effectively to clinically significant tissues in MPS VII mice and was effective in reversing the storage pathology. The tagged enzyme was able to reduce storage in glomerular podocytes and osteoblasts at a dose at which untagged enzyme was much less effective. </p>
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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>16 Selected Examples):</strong>
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<h4>
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<span class="mim-font">
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<strong>.0001 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
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</span>
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GUSB, ALA619VAL
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<br />
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SNP: rs121918172,
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gnomAD: rs121918172,
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ClinVar: RCV000000941, RCV004589490
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<div>
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<span class="mim-text-font">
|
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<p>In a 24-year-old Japanese man with mucopolysaccharidosis type VII (MPS7; 253220), Tomatsu et al. (1991) identified a homozygous C-to-T transition in the GUSB gene, resulting in an ala619-to-val (A619V) substitution in a highly conserved region among human, rat, and E. coli. In vitro functional expression studies showed that the mutant protein resulted in decreased enzyme activity. The change resulted in loss of the cleavage site for Fnu4HI in the mutated cDNA. The patient had unusual facies, hepatomegaly, umbilical herniation, short stature, slight bone deformity, mental retardation, and coarse metachromatic granules in white blood cells. Beta-glucuronidase activity was about 2% of normal values. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 MUCOPOLYSACCHARIDOSIS, TYPE VII</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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GUSB, ARG382CYS
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<br />
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SNP: rs121918173,
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gnomAD: rs121918173,
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ClinVar: RCV000000942, RCV000170573
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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 a 7-year-old female with type VII mucopolysaccharidosis (MPS7; 253220), Tomatsu et al. (1991) identified a homozygous C-to-T transition in the GUSB gene, resulting in an arg382-to-cys (R382C) substitution in a highly conserved region among human, rat, and E. coli. In vitro functional expression studies showed that the mutant protein resulted in decreased enzyme activity. She had an umbilical hernia, severe bone deformities, short stature, normal intelligence, no hepatomegaly, normal facies, and no abnormal granules in white blood cells. Beta-glucuronidase activity was about 2% of normal values. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 MUCOPOLYSACCHARIDOSIS, TYPE VII</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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GUSB, ARG216TRP
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<br />
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SNP: rs121918174,
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gnomAD: rs121918174,
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ClinVar: RCV000000943, RCV004589491
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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 the patient with nonimmune hydrops fetalis due to beta-glucuronidase deficiency (MPS7; 253220) reported by Lissens et al. (1991), Vervoort et al. (1993) identified a heterozygous 672C-T transition within a CpG doublet in exon 4 of the GUSB gene, resulting in an arg216-to-trp (R216W) substitution. The patient inherited the mutation from his father; the other mutation was not identified. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</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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GUSB, ALA354VAL
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<br />
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SNP: rs121918175,
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gnomAD: rs121918175,
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|
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ClinVar: RCV000000944, RCV004766974
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with severe mucopolysaccharidosis type VII (MPS7; 253220) as well as nonimmune hydrops fetalis (Nelson et al., 1982), Wu and Sly (1993) identified compound heterozygosity for 2 GUSB mutations: a 1061C-T transition in exon 6 resulting in an ala354-to-val substitution (A354V), and a 1831C-T transition in exon 12 resulting in an arg611-to-trp substitution (R611W; 611499.0005). Cultured fibroblasts from this patient showed less than 1% of residual activity for beta-glucuronidase. Transient expression in COS-7 cells demonstrated that both mutant enzymes were synthesized as normal-size precursors in normal quantities, but both exhibited accelerated turnover. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
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|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
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|
GUSB, ARG611TRP
|
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|
<br />
|
|
|
|
SNP: rs121918176,
|
|
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|
|
|
gnomAD: rs121918176,
|
|
|
|
|
|
ClinVar: RCV000000945
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg611-to-trp (R611W) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type VII (MPS7; 253220) by Wu and Sly (1993), see 611499.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, PRO148SER
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121918177,
|
|
|
|
|
|
gnomAD: rs121918177,
|
|
|
|
|
|
ClinVar: RCV000000946
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Caucasian male infant with severe mucopolysaccharidosis type VII (MPS7; 253220), Yamada et al. (1995) identified compound heterozygosity for 2 mutations in the GUSB gene: a 442C-T transition in exon 3 resulting in a pro148-to-ser (P148S) substitution, and Y495C (611499.0007). The patient was born with severe ascites, hepatosplenomegaly, cholestatic jaundice, and respiratory distress. He died at 19 days of age. Functional expression studies showed a severe reduction of beta-glucuronidase activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, TYR495CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918178,
|
|
|
|
|
|
gnomAD: rs121918178,
|
|
|
|
|
|
ClinVar: RCV000000947
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the tyr495-to-cys (Y495C) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type VII (MPS7; 253220) by Yamada et al. (1995), see 611499.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, TRP507TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918179,
|
|
|
|
|
|
gnomAD: rs121918179,
|
|
|
|
|
|
ClinVar: RCV000000948, RCV004719603
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old Caucasian girl with a severe form of mucopolysaccharidosis type VII (MPS7; 253220), Yamada et al. (1995) identified compound heterozygosity for 2 mutations in the GUSB gene: a 1521G-A transition in exon 10, resulting in a trp507-to-trp (W507X) substitution, and a 38-bp deletion (611499.0009). At birth, she had severe ascites, hepatosplenomegaly, bilateral clubfeet, low-set ears, respiratory distress, and dislocated hips. She did not develop and never left the hospital. The mother had had 2 previous spontaneous abortions. Functional expression studies showed that the mutant proteins had severely decreased enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, 38-BP DEL, NT1642
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs377519272,
|
|
|
|
|
|
gnomAD: rs377519272,
|
|
|
|
|
|
ClinVar: RCV000000949
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Caucasian patient with a severe form of mucopolysaccharidosis type VII (MPS7; 253220), Yamada et al. (1995) identified compound heterozygosity for 2 mutations in the GUSB gene: a 38-bp deletion at position 1642-1679 in exon 10 (1642del38nt), and W507X (611499.0008). The deletion was caused by a C-to-T transition in exon 10, which together with the previous guanine, created the GT of a new, premature 5-prime splice site. Functional expression studies showed that the mutant proteins had severely decreased enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, IVS8+0.6-KB, 2-BP DEL, TC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200863,
|
|
|
|
|
|
|
|
ClinVar: RCV000000951
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mild mucopolysaccharidosis type VII (MPS7; 253220), Vervoort et al. (1998) identified compound heterozygosity for 2 mutations in the GUSB gene: a 2-bp deletion in intron 8 inherited from the father, and W446X (611499.0011) inherited from the mother. The paternally derived mutation was difficult to detect: extended sequence analysis of the introns to cover all putative lariat branch points and putative G-rich intronic enhancers revealed no nucleotide changes. Analysis of mRNA structure by RT-PCR and direct sequencing revealed the inclusion of a new exon derived from an antisense Alu-repeat in intron 8 and the skipping of exon 9 in a large proportion of the mRNA of this patient. A 2-bp deletion creating a strong 5-prime splice site was subsequently identified (IVS8+0.6kb delTC). With a sensitive RT-PCR assay, Vervoort et al. (1998) demonstrated that both the inclusion of the Alu-cassette and the skipping of exon 9 were minor events in control samples and that mRNA with both alterations was found only in the carrier of the intronic 2-bp deletion. The increased proportion of exon 9 skipping seemed to be related to the premature termination of translation. Vervoort et al. (1998) noted that this was the third report of a human disease mutation that created a splice site and activated an antisense Alu-cassette. The other examples were that of Mitchell et al. (1991) in the gene for ornithine aminotransferase (613349), found in a case of gyrate atrophy (258870), and that of Knebelmann et al. (1995), found in the COL4A3 gene in a patient with autosomal recessive Alport syndrome type I (120070.0006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, TRP446TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918180,
|
|
|
|
|
|
|
|
ClinVar: RCV000000952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mild mucopolysaccharidosis type VII (MPS7; 253220), Vervoort et al. (1998) identified compound heterozygosity for 2 mutations in the GUSB gene: a 1363G-A transition in exon 8, resulting in a trp446-to-ter (W446X) substitution, and a 2-bp deletion in intron 10 (611499.0010). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, LEU176PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918181,
|
|
|
|
|
|
gnomAD: rs121918181,
|
|
|
|
|
|
ClinVar: RCV000000953, RCV000586449, RCV000790722, RCV003914794
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with mucopolysaccharidosis type VII (MPS7; 253220), Vervoort et al. (1995) identified a homozygous 552C-T transition in exon 3 of the GUSB gene, resulting in a leu176-to-phe (L176F) substitution. </p><p>Tomatsu et al. (2002) stated that the L176F mutation, which was first identified in affected members of a Mennonite family with MPS7 (Wu et al., 1994) and later observed in other populations, accounts for approximately 20% of mutant alleles of the GUSB gene. Most patients homozygous for L176F have a mild phenotype. Cells from L176F patients have less than 1% of normal GUSB activity, but expression of the L176F cDNA in COS cells produces nearly as much enzyme activity as the wildtype control cDNA. Tomatsu et al. (2002) used targeted mutagenesis to produce an L175F mutation in the mouse Gusb gene. The mutant mice had low levels of residual enzyme activity and a milder phenotype than did knockout mice with a glu536-to-ala (E536A) mutation corresponding to E540A in human MPS7. </p><p>Schwartz et al. (2003) identified homozygosity for the L176F mutation in a Brazilian family in which 3 brothers were affected with MPS7. Although the 3 brothers had early onset of symptoms with peripheral edema at birth and prolonged neonatal jaundice, the evolution of the disorder in 1 of the brothers, who was still alive at age 18 years and attending a special school, suggested the intermediate form of MPS7. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MUCOPOLYSACCHARIDOSIS, TYPE VII</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GUSB, LYS350ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918182,
|
|
|
|
|
|
gnomAD: rs121918182,
|
|
|
|
|
|
ClinVar: RCV000000954
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 37-year-old woman described as the longest known survivor of mucopolysaccharidosis type VII (MPS7; 253220), Storch et al. (2003) identified compound heterozygosity for 2 mutations in the GUSB gene: lys350-to-asn (K350N) in exon 6 and arg577-to-leu (R577L; 611499.0014) in exon 11. She had been reported by Pfeiffer et al. (1977) and had a relatively mild phenotype. She died unexpectedly at the age of 37 years, presumably as a consequence of cardiac arrest. Expression of the K350N mutation in baby hamster kidney cells revealed residual enzymatic activity and normal transport of the enzyme to the lysosome. However, expression of either the R577L or the R577L/K350N mutation resulted in rapid degradation of the enzyme in early biosynthetic compartments and a total loss of enzymatic activity. Storch et al. (2003) attributed the mild phenotype to the residual catalytic activity provided by the K350N mutant. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</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>.0014 MUCOPOLYSACCHARIDOSIS, TYPE VII</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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GUSB, ARG577LEU
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<br />
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SNP: rs121918183,
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ClinVar: RCV000000950
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the arg577-to-leu (R577L) mutation in the GUSB gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type VII (MPS7; 253220) by Storch et al. (2003), see 611499.0013. </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>.0015 MUCOPOLYSACCHARIDOSIS, TYPE VII</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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GUSB, TRP627CYS
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<br />
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SNP: rs121918184,
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ClinVar: RCV000000955, RCV003328549, RCV003398406
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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 the first described patient with mucopolysaccharidosis type VII (MPS7; 253220) (Sly et al., 1973), Shipley et al. (1993) identified compound heterozygosity for 2 mutations in the GUSB gene: a G-to-T transversion in exon 12 resulting in a trp627-to-cys (W627C) substitution, and a C-to-T transition in exon 7 resulting in an arg356-to-ter substitution (R356X; 611499.0016). Overexpression studies showed that the W627C mutant had 65% residual enzyme activity in COS-7 cells, but 13% residual activity in murine MPS VII cells, which the authors postulated was related to kinetics and alterations in folding. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 MUCOPOLYSACCHARIDOSIS, TYPE VII</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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GUSB, ARG356TER
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<br />
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SNP: rs121918185,
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gnomAD: rs121918185,
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ClinVar: RCV000000956, RCV000170582, RCV001528837
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the arg356-to-ter (R356X) mutation in the GUSB gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type VII (MPS7; 253220) by Shipley et al. (1993), see 611499.0015. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Achord et al. (1978); Bauch et al. (1978); Benn et al. (1977); Brot
|
|
et al. (1974); Chan et al. (1976); Chern and Croce (1976); Danesino
|
|
et al. (1981); Francke (1976); George and Francke (1978); Grzeschik
|
|
(1976); Lalley et al. (1977); Lalley and Shows (1974); Shows et al.
|
|
(1978)
|
|
</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">
|
|
<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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Achord, D. T., Brot, F. E., Bell, C. E., Sly, W. S.
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<strong>Human beta-glucuronidase: in vivo and clearance in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells.</strong>
|
|
Cell 15: 269-278, 1978.
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[PubMed: 699046]
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[Full Text: https://doi.org/10.1016/0092-8674(78)90102-2]
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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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Allanson, J. E., Gemmill, R. M., Hecht, B. K., Johnsen, S., Wenger, D. A.
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<strong>Deletion mapping of the beta-glucuronidase gene.</strong>
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Am. J. Med. Genet. 29: 517-522, 1988.
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[PubMed: 3376995]
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[Full Text: https://doi.org/10.1002/ajmg.1320290307]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bauch, W., Hellkuhl, B., Grzeschik, K.-H.
|
|
<strong>Regional assignment of the gene for human beta-glucuronidase by the use of human-mouse cell hybrids.</strong>
|
|
Cytogenet. Cell Genet. 22: 434-436, 1978.
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[PubMed: 752519]
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[Full Text: https://doi.org/10.1159/000130990]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Benn, P., Chern, C. J., Bruns, G. A. P., Craig, I. W., Croce, C. M.
|
|
<strong>Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter-q22 of chromosome 7.</strong>
|
|
Cytogenet. Cell Genet. 19: 273-280, 1977.
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[PubMed: 606506]
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[Full Text: https://doi.org/10.1159/000130820]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Birkenmeier, E. H., Barker, J. E., Vogler, C. A., Kyle, J. W., Sly, W. S., Gwynn, B., Levy, B., Pegors, C.
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<strong>Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation.</strong>
|
|
Blood 78: 3081-3092, 1991.
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[PubMed: 1954394]
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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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Birkenmeier, E. H., Davisson, M. T., Beamer, W. G., Ganschow, R. E., Vogler, C. A., Gwynn, B., Lyford, K. A., Maltais, L. M., Wawrzyniak, C. J.
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<strong>Murine mucopolysaccharidosis type VII: characterization of a mouse with beta-glucuronidase deficiency.</strong>
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J. Clin. Invest. 83: 1258-1266, 1989.
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[PubMed: 2495302]
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[Full Text: https://doi.org/10.1172/JCI114010]
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<li>
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<p class="mim-text-font">
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Bramwell, K. K. C., Ma, Y., Weis, J. H., Chen, X., Zachary, J. F., Teuscher, C., Weis, J. J.
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<strong>Lysosomal beta-glucuronidase regulates Lyme and rheumatoid arthritis severity.</strong>
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J. Clin. Invest. 124: 311-320, 2014.
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[PubMed: 24334460]
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[Full Text: https://doi.org/10.1172/JCI72339]
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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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Brooks, A. I., Stein, C. S., Hughes, S. M., Heth, J., McCray, P. M., Jr., Sauter, S. L., Johnston, J. C., Cory-Slechta, D. A., Federoff, H. J., Davidson, B. L.
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<strong>Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors.</strong>
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Proc. Nat. Acad. Sci. 99: 6216-6221, 2002.
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[PubMed: 11959904]
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[Full Text: https://doi.org/10.1073/pnas.082011999]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Brot, F. E., Glaser, J. H., Roozen, K. J., Sly, W. S.
|
|
<strong>In vitro correction of deficient human fibroblast by beta-glucuronidase from different human sources.</strong>
|
|
Biochem. Biophys. Res. Commun. 57: 1-8, 1974.
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[PubMed: 4857181]
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[Full Text: https://doi.org/10.1016/s0006-291x(74)80349-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chan, T.-S., Reardon, M. P., Greenstein, R. M.
|
|
<strong>Somatic cell hybrid assignment of a structural gene for human beta-glucuronidase to chromosome 7 by use of X-7 translocation.</strong>
|
|
Cytogenet. Cell Genet. 17: 291-295, 1976.
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|
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|
|
[PubMed: 1017320]
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[Full Text: https://doi.org/10.1159/000130725]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Chern, C. J., Croce, C. M.
|
|
<strong>Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.</strong>
|
|
Am. J. Hum. Genet. 28: 350-356, 1976.
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[PubMed: 941902]
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<p class="mim-text-font">
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Daly, T. M., Vogler, C., Levy, B., Haskins, M. E., Sands, M. S.
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<strong>Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease.</strong>
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Proc. Nat. Acad. Sci. 96: 2296-2300, 1999.
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[PubMed: 10051635]
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[Full Text: https://doi.org/10.1073/pnas.96.5.2296]
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</p>
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<li>
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<p class="mim-text-font">
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Danesino, C., Gimelli, G., Cuoco, C., Ciccone, M. O.
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<strong>Triplex gene dosage effect for beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q.</strong>
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Hum. Genet. 56: 371-373, 1981.
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[PubMed: 7239519]
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[Full Text: https://doi.org/10.1007/BF00274695]
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<li>
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<p class="mim-text-font">
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Fagan, K., Gill, A., Henry, R., Wilkinson, I., Carey, B.
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<strong>A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.</strong>
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J. Med. Genet. 26: 619-625, 1989.
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[PubMed: 2486209]
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</p>
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<li>
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<p class="mim-text-font">
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|
Francke, U.
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<strong>The human gene for beta glucuronidase is on chromosome 7.</strong>
|
|
Am. J. Hum. Genet. 28: 357-362, 1976.
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[PubMed: 941903]
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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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Frydman, M., Steinberger, J., Shabtai, F., Steinherz, R.
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<strong>Interstitial 7q deletion [46,XY,del(7)(pter-cen:q112-qter)] in a retarded quadriplegic boy with normal beta-glucuronidase.</strong>
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Am. J. Med. Genet. 25: 245-249, 1986.
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[PubMed: 3096136]
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</p>
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<li>
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<p class="mim-text-font">
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Fyfe, J. C., Kurzhals, R. L., Lassaline, M. E., Henthorn, P. S., Alur, P. R. K., Wang, P., Wolfe, J. H., Giger, U., Haskins, M. E., Patterson, D. F., Sun, H., Jain, S., Yuhki, N.
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<strong>Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.</strong>
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Genomics 58: 121-128, 1999.
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[PubMed: 10366443]
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</p>
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<li>
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<p class="mim-text-font">
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George, D. L., Francke, U.
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<strong>Regional mapping of beta-glucuronidase (GUS) on chromosome 7.</strong>
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Cytogenet. Cell Genet. 22: 437-440, 1978.
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[PubMed: 752520]
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[Full Text: https://doi.org/10.1159/000130991]
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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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Gitzelmann, R., Bosshard, N. U., Superti-Furga, A., Spycher, M. A., Briner, J., Wiesmann, U., Lutz, H., Litschi, B.
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<strong>Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.</strong>
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Vet. Path. 31: 435-443, 1994.
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[PubMed: 7941232]
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[Full Text: https://doi.org/10.1177/030098589403100405]
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</p>
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|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Grzeschik, K.-H.
|
|
<strong>Assignment of structural gene for beta-glucuronidase to human chromosome C7.</strong>
|
|
Somat. Cell Genet. 2: 401-410, 1976.
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|
|
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|
|
[PubMed: 1027150]
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[Full Text: https://doi.org/10.1007/BF01542721]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Guise, K. S., Korneluk, R. G., Waye, J., Lamhonwah, A.-M., Quan, F., Palmer, R., Ganschow, R. E., Sly, W. S., Gravel, R. A.
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<strong>Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase.</strong>
|
|
Gene 34: 105-110, 1985.
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[PubMed: 3924735]
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|
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[Full Text: https://doi.org/10.1016/0378-1119(85)90300-2]
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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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|
Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., Patterson, D. F.
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|
<strong>Mucopolysaccharidosis type VII (Sly syndrome): beta-glucuronidase-deficient mucopolysaccharidosis in the dog.</strong>
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|
Am. J. Path. 138: 1553-1555, 1991.
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|
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|
|
[PubMed: 1905109]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Haskins, M. E., Desnick, R. J., DiFerrante, N., Jezyk, P. F., Patterson, D. F.
|
|
<strong>Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.</strong>
|
|
Pediat. Res. 18: 980-984, 1984.
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|
|
|
[PubMed: 6436780]
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|
[Full Text: https://doi.org/10.1203/00006450-198410000-00014]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Heuer, G. G., Passini, M. A., Jiang, K., Parente, M. K., Lee, V. M.-Y., Trojanowski, J. Q., Wolfe, J. H.
|
|
<strong>Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible.</strong>
|
|
Ann. Neurol. 52: 762-770, 2002.
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|
[PubMed: 12447930]
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[Full Text: https://doi.org/10.1002/ana.10373]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Knebelmann, B., Forestier, L., Drouot, L., Quinones, S., Chuet, C., Benessy, F., Saus, J., Antignac, C.
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|
<strong>Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.</strong>
|
|
Hum. Molec. Genet. 4: 675-679, 1995.
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|
|
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|
|
[PubMed: 7633417]
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[Full Text: https://doi.org/10.1093/hmg/4.4.675]
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