3249 lines
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Entry
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- *607664 - N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
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- OMIM
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<p>
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<span class="h4">*607664</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607664">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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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 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=ENSG00000135677;t=ENST00000258145" 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=2799" 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=607664" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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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 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=ENSG00000135677;t=ENST00000258145" 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_002076" 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_002076" 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=607664" 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=09637&isoform_id=09637_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/GNS" 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/31867,232126,4504061,15214696,31873233,62898700,119617544,119617545,119617546,158256974,194379548,194383964,194385338,194390666,957949489,957949492" 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/P15586" 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=2799" 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=ENSG00000135677;t=ENST00000258145" 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=GNS" 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=GNS" 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+2799" 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/GNS" 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:2799" 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/2799" 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=chr12&hgg_gene=ENST00000258145.8&hgg_start=64713449&hgg_end=64759406&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 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:4422" 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:4422" 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/gns" 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=607664[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=607664[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/ENSG00000135677" 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=GNS" 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=GNS" 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=GNS" 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=GNS&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/PA28802" 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:4422" 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/FBgn0033836.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:1922862" 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/GNS#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:1922862" 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/2799/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/OMIA000665/" 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=2799" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-5846" 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:2799" 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=GNS&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> 15892005<br />
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<strong>ICD10CM:</strong> E76.22<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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607664
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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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N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
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</span>
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</h3>
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</div>
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|
<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GLUCOSAMINE-6-SULFATASE; G6S
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GNS" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GNS</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/12/584?start=-3&limit=10&highlight=584">12q14.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:64713449-64759406&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'})">12:64,713,449-64,759,406</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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/584?start=-3&limit=10&highlight=584">
|
|
12q14.3
|
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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 type IIID
|
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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/252940"> 252940 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607664" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607664" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<p>N-acetylglucosamine-6-sulfatase (GNS; <a href="https://enzyme.expasy.org/EC/3.1.6.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.6.14</a>) hydrolyzes heparan sulfate and keratan sulfate (<a href="#4" class="mim-tip-reference" title="Freeman, C., Clements, P. R., Hopwood, J. J. <strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: purification and characterization.</strong> Biochem. J. 246: 347-354, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689314</a>] [<a href="https://doi.org/10.1042/bj2460347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689314">Freeman et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Freeman, C., Clements, P. R., Hopwood, J. J. <strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: purification and characterization.</strong> Biochem. J. 246: 347-354, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689314</a>] [<a href="https://doi.org/10.1042/bj2460347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689314">Freeman et al. (1987)</a> reported purification and characterization of GNS. They identified 4 forms of the enzyme in liver, which were postulated to be due to differences in the state of processing of a large subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689314" 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 sequences obtained by direct N-terminal amino acid sequencing of G6S isoforms, <a href="#10" class="mim-tip-reference" title="Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., Hopwood, J. J. <strong>Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.</strong> Hum. Genet. 79: 175-178, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391615</a>] [<a href="https://doi.org/10.1007/BF00280560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391615">Robertson et al. (1988)</a> designed oligonucleotide probes to screen a liver cDNA library. The longest clone obtained encoded a deduced 375-amino acid protein representing form A of G6S. They also identified a clone that represents the 331-amino acid form B of G6S. <a href="#10" class="mim-tip-reference" title="Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., Hopwood, J. J. <strong>Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.</strong> Hum. Genet. 79: 175-178, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391615</a>] [<a href="https://doi.org/10.1007/BF00280560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391615">Robertson et al. (1988)</a> determined that the N-terminal amino acid sequence of the 78-kD form A species and the 32-kD form B species are identical, indicating that the 78-kD form A polypeptide is processed by internal peptidase cleavage to a 32-kD N-terminal species and a 48-kD C-terminal species. Full-length G6S contains several N-glycosylation sites and a hydrophilic region, rich in basic amino acids, that may represent the proteolytic cleavage site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391615" 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>The catalytic properties of GNS were studied by <a href="#5" class="mim-tip-reference" title="Freeman, C., Hopwood, J. J. <strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: catalytic properties.</strong> Biochem. J. 246: 355-365, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689315</a>] [<a href="https://doi.org/10.1042/bj2460355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689315">Freeman and Hopwood (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Dhoot, G. K., Gustafsson, M. K., Ai, X., Sun, W., Standiford, D. M., Emerson, C. P., Jr. <strong>Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase.</strong> Science 293: 1663-1666, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11533491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11533491</a>] [<a href="https://doi.org/10.1126/science.293.5535.1663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11533491">Dhoot et al. (2001)</a> reported the identification and characterization of QSulf1, an avian ortholog of GNS. QSulf1 expression is induced by Sonic hedgehog in myogenic somite progenitors in quail embryos and is required for the activation of MyoD (<a href="/entry/159970">159970</a>), a Wnt (see <a href="/entry/164820">164820</a>)-induced regulator of muscle specification. QSulf1 is localized on the cell surface and regulates heparan-dependent Wnt signaling in C2C12 myogenic progenitor cells through a mechanism that requires its catalytic activity, providing evidence that QSulf1 regulates Wnt signaling through desulfation of cell surface heparan sulfate proteoglycans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11533491" 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="#10" class="mim-tip-reference" title="Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., Hopwood, J. J. <strong>Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.</strong> Hum. Genet. 79: 175-178, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391615</a>] [<a href="https://doi.org/10.1007/BF00280560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391615">Robertson et al. (1988)</a> assigned the glucosamine-6-sulfatase gene, which they symbolized G6S, to chromosome 12q14 by in situ hybridization of a tritium-labeled G6S cDNA probe. The localization was confirmed by using the cDNA clone in 7 analyses of DNA from human/mouse hybrid cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391615" 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="#9" class="mim-tip-reference" title="Mok, A., Cao, H., Hegele, R. A. <strong>Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.</strong> Genomics 81: 1-5, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12573255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12573255</a>] [<a href="https://doi.org/10.1016/s0888-7543(02)00014-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12573255">Mok et al. (2003)</a> amplified and sequenced the promoter and 14 exons of the GNS gene from a patient with mucopolysaccharidosis type IIID (MPS3D; <a href="/entry/252940">252940</a>) and identified a homozygous nonsense mutation in exon 9, predicted to result in premature termination at codon 355 (<a href="#0001">607664.0001</a>). They also identified 2 common synonymous coding SNPs and genotyped these in samples from 4 ethnic groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12573255" 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>Independently, <a href="#1" class="mim-tip-reference" title="Beesley, C. E., Burke, D., Jackson, M., Vellodi, A., Winchester, B. G., Young, E. P. <strong>Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.</strong> J. Med. Genet. 40: 192-194, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12624138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12624138</a>] [<a href="https://doi.org/10.1136/jmg.40.3.192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12624138">Beesley et al. (2003)</a> identified a 1-bp deletion in the GNS gene (<a href="#0002">607664.0002</a>) in a patient with Sanfilippo disease (mucopolysaccharidosis) type D. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12624138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Elcioglu, N. H., Pawlik, P., Colak, B., Beck, M., Wollnik, B. <strong>A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.</strong> Genet. Counsel. 20: 133-139, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19650410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19650410</a>]" pmid="19650410">Elcioglu et al. (2009)</a> reported a 10-year-old Turkish boy with Sanfilippo syndrome type D, in whom they identified homozygosity for a 1-bp insertion in the GNS gene (<a href="#0005">607664.0005</a>). The authors stated that this was the twenty-first patient and the eighth mutation reported for the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19650410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the fibroblast cell line of the 7-year-old East Indian boy with mucopolysaccharidosis type IIID (MPS3D; <a href="/entry/252940">252940</a>) described by <a href="#8" class="mim-tip-reference" title="Kresse, H., Paschke, E., von Figura, K., Gilberg, W., Fuchs, W. <strong>Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.</strong> Proc. Nat. Acad. Sci. 77: 6822-6826, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450420</a>] [<a href="https://doi.org/10.1073/pnas.77.11.6822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450420">Kresse et al. (1980)</a>, <a href="#9" class="mim-tip-reference" title="Mok, A., Cao, H., Hegele, R. A. <strong>Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.</strong> Genomics 81: 1-5, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12573255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12573255</a>] [<a href="https://doi.org/10.1016/s0888-7543(02)00014-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12573255">Mok et al. (2003)</a> identified a homozygous 1063C-T transition in exon 9 of the GNS gene, predicting a premature termination of translation at codon 355 (R355X). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12573255+6450420" 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 IIID</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> rs483352898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483352898;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/rs483352898?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=rs483352898" 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=rs483352898" 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=RCV000003067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003067</a>
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<p>In a patient with mucopolysaccharidosis type IIID (<a href="/entry/252940">252940</a>), <a href="#1" class="mim-tip-reference" title="Beesley, C. E., Burke, D., Jackson, M., Vellodi, A., Winchester, B. G., Young, E. P. <strong>Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.</strong> J. Med. Genet. 40: 192-194, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12624138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12624138</a>] [<a href="https://doi.org/10.1136/jmg.40.3.192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12624138">Beesley et al. (2003)</a> identified homozygosity for a 1-bp deletion, 1169delA, in the GNS gene. The mutation was predicted to cause a frameshift and premature termination of the protein. The patient was the offspring of first-cousin parents from Pakistan. He presented at 3 years of age, at which time he was very 'lively' and examination was difficult as he was very fractious. He had a hirsute facies and his facial features were coarse. He had a large head with frontal bossing, a low nasal bridge, and a tendency to hypertelorism. His tongue and hands were large. There was no hepatosplenomegaly or audible murmurs. A skeletal survey was consistent with a mucopolysaccharidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12624138" 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 IIID</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">rs119461975 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119461975;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=rs119461975" 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=rs119461975" 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=RCV000003068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003068</a>
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<p>In 2 Italian Canadian brothers with mucopolysaccharidosis type IIID (<a href="/entry/252940">252940</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Kaplan, P., Wolfe, L. S. <strong>Sanfilippo syndrome type D.</strong> J. Pediat. 110: 267-271, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100754</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80171-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3100754">Kaplan and Wolfe (1987)</a>, <a href="#6" class="mim-tip-reference" title="Jansen, A. C. M., Cao, H., Kaplan, P., Silver, K., Leonard, G., De Meileir, L., Lissens, W., Liebaers, I., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E. <strong>Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene.</strong> Arch. Neurol. 64: 1629-1634, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998446</a>] [<a href="https://doi.org/10.1001/archneur.64.11.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998446">Jansen et al. (2007)</a> identified a homozygous 1168C-T transition in exon 10 of the GNS gene, resulting in a gln390-to-ter (Q390X) substitution. Each unaffected parent was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3100754+17998446" 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 IIID</strong>
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GNS, 5-BP INS, 1138GTCCT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs483352899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483352899;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=rs483352899" 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=rs483352899" 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=RCV000003069" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003069" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003069</a>
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<p>In a 15-year-old Turkish English girl with mucopolysaccharidosis type IIID (<a href="/entry/252940">252940</a>), <a href="#6" class="mim-tip-reference" title="Jansen, A. C. M., Cao, H., Kaplan, P., Silver, K., Leonard, G., De Meileir, L., Lissens, W., Liebaers, I., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E. <strong>Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene.</strong> Arch. Neurol. 64: 1629-1634, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998446</a>] [<a href="https://doi.org/10.1001/archneur.64.11.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998446">Jansen et al. (2007)</a> identified a homozygous 5-bp insertion (1138insGTCCT) in exon 10 of the GNS gene, resulting in a frameshift and premature termination of the protein at residue 389. She was severely retarded and fully dependent on assistance for all activities of daily living. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MUCOPOLYSACCHARIDOSIS, TYPE IIID</strong>
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GNS, 1-BP INS, 1226G
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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> rs483352900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483352900;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/rs483352900?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=rs483352900" 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=rs483352900" 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=RCV000003070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003070</a>
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<p>In a 10-year-old Turkish boy with mucopolysaccharidosis type IIID (<a href="/entry/252940">252940</a>), <a href="#3" class="mim-tip-reference" title="Elcioglu, N. H., Pawlik, P., Colak, B., Beck, M., Wollnik, B. <strong>A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.</strong> Genet. Counsel. 20: 133-139, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19650410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19650410</a>]" pmid="19650410">Elcioglu et al. (2009)</a> identified homozygosity for a 1-bp insertion (1226insG) in exon 11 of the GNS gene, predicted to cause a frameshift and premature termination with loss of the C terminus. The boy's parents were heterozygous for the mutation, which was not found in 100 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19650410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Robertson1988" class="mim-tip-reference" title="Robertson, D. A., Freeman, C., Nelson, P. V., Morris, C. P., Hopwood, J. J. <strong>Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase.</strong> Biochem. Biophys. Res. Commun. 157: 218-224, 1988.">Robertson et al. (1988)</a>
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<a id="1" class="mim-anchor"></a>
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Beesley, C. E., Burke, D., Jackson, M., Vellodi, A., Winchester, B. G., Young, E. P.
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<strong>Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.</strong>
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J. Med. Genet. 40: 192-194, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12624138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12624138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12624138" 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/10.1136/jmg.40.3.192" target="_blank">Full Text</a>]
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Dhoot, G. K., Gustafsson, M. K., Ai, X., Sun, W., Standiford, D. M., Emerson, C. P., Jr.
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<strong>Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase.</strong>
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Science 293: 1663-1666, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11533491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11533491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11533491" 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/10.1126/science.293.5535.1663" target="_blank">Full Text</a>]
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Elcioglu, N. H., Pawlik, P., Colak, B., Beck, M., Wollnik, B.
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<strong>A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.</strong>
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Genet. Counsel. 20: 133-139, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19650410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19650410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19650410" 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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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Freeman1987" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Freeman, C., Clements, P. R., Hopwood, J. J.
|
|
<strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: purification and characterization.</strong>
|
|
Biochem. J. 246: 347-354, 1987.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689314" 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/10.1042/bj2460347" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Freeman1987" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Freeman, C., Hopwood, J. J.
|
|
<strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: catalytic properties.</strong>
|
|
Biochem. J. 246: 355-365, 1987.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3689315" 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/10.1042/bj2460355" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Jansen2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Jansen, A. C. M., Cao, H., Kaplan, P., Silver, K., Leonard, G., De Meileir, L., Lissens, W., Liebaers, I., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E.
|
|
<strong>Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene.</strong>
|
|
Arch. Neurol. 64: 1629-1634, 2007.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998446" 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/10.1001/archneur.64.11.1629" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
|
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<a id="Kaplan1987" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Kaplan, P., Wolfe, L. S.
|
|
<strong>Sanfilippo syndrome type D.</strong>
|
|
J. Pediat. 110: 267-271, 1987.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3100754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(87)80171-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Kresse1980" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Kresse, H., Paschke, E., von Figura, K., Gilberg, W., Fuchs, W.
|
|
<strong>Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.</strong>
|
|
Proc. Nat. Acad. Sci. 77: 6822-6826, 1980.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6450420" 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.77.11.6822" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Mok2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mok, A., Cao, H., Hegele, R. A.
|
|
<strong>Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.</strong>
|
|
Genomics 81: 1-5, 2003.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12573255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12573255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12573255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(02)00014-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Robertson1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., Hopwood, J. J.
|
|
<strong>Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.</strong>
|
|
Hum. Genet. 79: 175-178, 1988.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391615" 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/BF00280560" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Robertson1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robertson, D. A., Freeman, C., Nelson, P. V., Morris, C. P., Hopwood, J. J.
|
|
<strong>Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase.</strong>
|
|
Biochem. Biophys. Res. Commun. 157: 218-224, 1988.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3196333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3196333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3196333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(88)80035-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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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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Matthew B. Gross - updated : 10/25/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Marla J. F. O'Neill - updated : 3/16/2010<br>Cassandra L. Kniffin - updated : 3/31/2008<br>Victor A. McKusick - updated : 3/1/2004<br>Patricia A. Hartz - updated : 4/21/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
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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Carol A. Bocchini : 3/27/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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|
mgross : 10/25/2024
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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|
carol : 02/12/2014<br>mcolton : 2/12/2014<br>carol : 9/3/2013<br>wwang : 3/19/2010<br>terry : 3/16/2010<br>wwang : 4/4/2008<br>ckniffin : 3/31/2008<br>tkritzer : 3/3/2004<br>terry : 3/1/2004<br>cwells : 4/24/2003<br>terry : 4/21/2003<br>terry : 4/21/2003<br>carol : 3/27/2003<br>carol : 3/27/2003
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 607664
|
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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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N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
GLUCOSAMINE-6-SULFATASE; G6S
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: GNS</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> 15892005;
|
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|
|
<strong>ICD10CM:</strong> E76.22;
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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>
|
|
Cytogenetic location: 12q14.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 12:64,713,449-64,759,406 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
12q14.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis type IIID
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
252940
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>N-acetylglucosamine-6-sulfatase (GNS; EC 3.1.6.14) hydrolyzes heparan sulfate and keratan sulfate (Freeman et al., 1987). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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<span class="mim-text-font">
|
|
<p>Freeman et al. (1987) reported purification and characterization of GNS. They identified 4 forms of the enzyme in liver, which were postulated to be due to differences in the state of processing of a large subunit. </p><p>Using sequences obtained by direct N-terminal amino acid sequencing of G6S isoforms, Robertson et al. (1988) designed oligonucleotide probes to screen a liver cDNA library. The longest clone obtained encoded a deduced 375-amino acid protein representing form A of G6S. They also identified a clone that represents the 331-amino acid form B of G6S. Robertson et al. (1988) determined that the N-terminal amino acid sequence of the 78-kD form A species and the 32-kD form B species are identical, indicating that the 78-kD form A polypeptide is processed by internal peptidase cleavage to a 32-kD N-terminal species and a 48-kD C-terminal species. Full-length G6S contains several N-glycosylation sites and a hydrophilic region, rich in basic amino acids, that may represent the proteolytic cleavage site. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The catalytic properties of GNS were studied by Freeman and Hopwood (1987). </p><p>Dhoot et al. (2001) reported the identification and characterization of QSulf1, an avian ortholog of GNS. QSulf1 expression is induced by Sonic hedgehog in myogenic somite progenitors in quail embryos and is required for the activation of MyoD (159970), a Wnt (see 164820)-induced regulator of muscle specification. QSulf1 is localized on the cell surface and regulates heparan-dependent Wnt signaling in C2C12 myogenic progenitor cells through a mechanism that requires its catalytic activity, providing evidence that QSulf1 regulates Wnt signaling through desulfation of cell surface heparan sulfate proteoglycans. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Robertson et al. (1988) assigned the glucosamine-6-sulfatase gene, which they symbolized G6S, to chromosome 12q14 by in situ hybridization of a tritium-labeled G6S cDNA probe. The localization was confirmed by using the cDNA clone in 7 analyses of DNA from human/mouse hybrid cell lines. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mok et al. (2003) amplified and sequenced the promoter and 14 exons of the GNS gene from a patient with mucopolysaccharidosis type IIID (MPS3D; 252940) and identified a homozygous nonsense mutation in exon 9, predicted to result in premature termination at codon 355 (607664.0001). They also identified 2 common synonymous coding SNPs and genotyped these in samples from 4 ethnic groups. </p><p>Independently, Beesley et al. (2003) identified a 1-bp deletion in the GNS gene (607664.0002) in a patient with Sanfilippo disease (mucopolysaccharidosis) type D. </p><p>Elcioglu et al. (2009) reported a 10-year-old Turkish boy with Sanfilippo syndrome type D, in whom they identified homozygosity for a 1-bp insertion in the GNS gene (607664.0005). The authors stated that this was the twenty-first patient and the eighth mutation reported for the disease. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MUCOPOLYSACCHARIDOSIS, TYPE IIID</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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GNS, ARG355TER
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<br />
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SNP: rs119461974,
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gnomAD: rs119461974,
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ClinVar: RCV000003066, RCV003314547
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In the fibroblast cell line of the 7-year-old East Indian boy with mucopolysaccharidosis type IIID (MPS3D; 252940) described by Kresse et al. (1980), Mok et al. (2003) identified a homozygous 1063C-T transition in exon 9 of the GNS gene, predicting a premature termination of translation at codon 355 (R355X). </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUCOPOLYSACCHARIDOSIS, TYPE IIID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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GNS, 1-BP DEL, 1169A
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<br />
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SNP: rs483352898,
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gnomAD: rs483352898,
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|
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ClinVar: RCV000003067
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|
</span>
|
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIID (252940), Beesley et al. (2003) identified homozygosity for a 1-bp deletion, 1169delA, in the GNS gene. The mutation was predicted to cause a frameshift and premature termination of the protein. The patient was the offspring of first-cousin parents from Pakistan. He presented at 3 years of age, at which time he was very 'lively' and examination was difficult as he was very fractious. He had a hirsute facies and his facial features were coarse. He had a large head with frontal bossing, a low nasal bridge, and a tendency to hypertelorism. His tongue and hands were large. There was no hepatosplenomegaly or audible murmurs. A skeletal survey was consistent with a mucopolysaccharidosis. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUCOPOLYSACCHARIDOSIS, TYPE IIID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
GNS, GLN390TER
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|
<br />
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|
|
SNP: rs119461975,
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|
|
|
ClinVar: RCV000003068
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian Canadian brothers with mucopolysaccharidosis type IIID (252940), originally reported by Kaplan and Wolfe (1987), Jansen et al. (2007) identified a homozygous 1168C-T transition in exon 10 of the GNS gene, resulting in a gln390-to-ter (Q390X) substitution. Each unaffected parent was heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUCOPOLYSACCHARIDOSIS, TYPE IIID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNS, 5-BP INS, 1138GTCCT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs483352899,
|
|
|
|
|
|
|
|
ClinVar: RCV000003069
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 15-year-old Turkish English girl with mucopolysaccharidosis type IIID (252940), Jansen et al. (2007) identified a homozygous 5-bp insertion (1138insGTCCT) in exon 10 of the GNS gene, resulting in a frameshift and premature termination of the protein at residue 389. She was severely retarded and fully dependent on assistance for all activities of daily living. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUCOPOLYSACCHARIDOSIS, TYPE IIID</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNS, 1-BP INS, 1226G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs483352900,
|
|
|
|
|
|
gnomAD: rs483352900,
|
|
|
|
|
|
ClinVar: RCV000003070
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old Turkish boy with mucopolysaccharidosis type IIID (252940), Elcioglu et al. (2009) identified homozygosity for a 1-bp insertion (1226insG) in exon 11 of the GNS gene, predicted to cause a frameshift and premature termination with loss of the C terminus. The boy's parents were heterozygous for the mutation, which was not found in 100 controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Robertson et al. (1988)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beesley, C. E., Burke, D., Jackson, M., Vellodi, A., Winchester, B. G., Young, E. P.
|
|
<strong>Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.</strong>
|
|
J. Med. Genet. 40: 192-194, 2003.
|
|
|
|
|
|
[PubMed: 12624138]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.3.192]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dhoot, G. K., Gustafsson, M. K., Ai, X., Sun, W., Standiford, D. M., Emerson, C. P., Jr.
|
|
<strong>Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase.</strong>
|
|
Science 293: 1663-1666, 2001.
|
|
|
|
|
|
[PubMed: 11533491]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.293.5535.1663]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elcioglu, N. H., Pawlik, P., Colak, B., Beck, M., Wollnik, B.
|
|
<strong>A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.</strong>
|
|
Genet. Counsel. 20: 133-139, 2009.
|
|
|
|
|
|
[PubMed: 19650410]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Freeman, C., Clements, P. R., Hopwood, J. J.
|
|
<strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: purification and characterization.</strong>
|
|
Biochem. J. 246: 347-354, 1987.
|
|
|
|
|
|
[PubMed: 3689314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj2460347]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Freeman, C., Hopwood, J. J.
|
|
<strong>Human liver N-acetylglucosamine-6-sulphate sulphatase: catalytic properties.</strong>
|
|
Biochem. J. 246: 355-365, 1987.
|
|
|
|
|
|
[PubMed: 3689315]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj2460355]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jansen, A. C. M., Cao, H., Kaplan, P., Silver, K., Leonard, G., De Meileir, L., Lissens, W., Liebaers, I., Veilleux, M., Andermann, F., Hegele, R. A., Andermann, E.
|
|
<strong>Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS gene.</strong>
|
|
Arch. Neurol. 64: 1629-1634, 2007.
|
|
|
|
|
|
[PubMed: 17998446]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.64.11.1629]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaplan, P., Wolfe, L. S.
|
|
<strong>Sanfilippo syndrome type D.</strong>
|
|
J. Pediat. 110: 267-271, 1987.
|
|
|
|
|
|
[PubMed: 3100754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(87)80171-3]
|
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kresse, H., Paschke, E., von Figura, K., Gilberg, W., Fuchs, W.
|
|
<strong>Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.</strong>
|
|
Proc. Nat. Acad. Sci. 77: 6822-6826, 1980.
|
|
|
|
|
|
[PubMed: 6450420]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.77.11.6822]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mok, A., Cao, H., Hegele, R. A.
|
|
<strong>Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.</strong>
|
|
Genomics 81: 1-5, 2003.
|
|
|
|
|
|
[PubMed: 12573255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(02)00014-9]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Robertson, D. A., Callen, D. F., Baker, E. G., Morris, C. P., Hopwood, J. J.
|
|
<strong>Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.</strong>
|
|
Hum. Genet. 79: 175-178, 1988.
|
|
|
|
|
|
[PubMed: 3391615]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00280560]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Robertson, D. A., Freeman, C., Nelson, P. V., Morris, C. P., Hopwood, J. J.
|
|
<strong>Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase.</strong>
|
|
Biochem. Biophys. Res. Commun. 157: 218-224, 1988.
|
|
|
|
|
|
[PubMed: 3196333]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(88)80035-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 10/25/2024<br>Marla J. F. O'Neill - updated : 3/16/2010<br>Cassandra L. Kniffin - updated : 3/31/2008<br>Victor A. McKusick - updated : 3/1/2004<br>Patricia A. Hartz - updated : 4/21/2003
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Carol A. Bocchini : 3/27/2003
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
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