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Entry
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- *603799 - CARBOHYDRATE SULFOTRANSFERASE 3; CHST3
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603799</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603799">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div 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="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=ENSG00000122863;t=ENST00000373115" 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=9469" 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=603799" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div 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=ENSG00000122863;t=ENST00000373115" 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_004273,XM_006718075,XM_011540369,XM_047426022" 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_004273" 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=603799" 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=07052&isoform_id=07052_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/CHST3" 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/3510308,4115404,19923281,62739448,85397738,116241297,119574825,578820026,767964308,2217279476,2462521965,2462521967,2462521969" 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/Q7LGC8" 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=9469" 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=ENSG00000122863;t=ENST00000373115" 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=CHST3" 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=CHST3" 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+9469" 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/CHST3" 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:9469" 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/9469" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000373115.5&hgg_start=71964395&hgg_end=72013558&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/chst3" 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=603799[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=603799[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CHST3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000122863" 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=CHST3" 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=CHST3" 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=CHST3" 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=CHST3&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/PA26503" 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:1971" 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/FBgn0031826.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:1858224" 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/CHST3#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:1858224" 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/9469/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9469" 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-080204-33" 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:9469" 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=CHST3&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> 702400006, 725417001<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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603799
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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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CARBOHYDRATE SULFOTRANSFERASE 3; CHST3
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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">
|
|
CHONDROITIN 6-SULFOTRANSFERASE; C6ST<br />
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C6ST1
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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=CHST3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CHST3</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>
|
|
Cytogenetic location: <a href="/geneMap/10/284?start=-3&limit=10&highlight=284">10q22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:71964395-72013558&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:71,964,395-72,013,558</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/10/284?start=-3&limit=10&highlight=284">
|
|
10q22.1
|
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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">
|
|
Spondyloepiphyseal dysplasia with congenital joint dislocations
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/143095"> 143095 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603799" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603799" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
|
|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
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<p>Chondroitin sulfate proteoglycans, which consist of a core protein with at least 1 covalently attached glycosaminoglycan (GAG) chain, are distributed on the surfaces of most cells and the extracellular matrix in virtually every tissue. See <a href="/entry/118661">118661</a>. Chondroitin sulfate has a linear polymer structure that possesses repetitive, sulfated disaccharide units containing glucuronic acid (GlcA) and N-acetylgalactosamine (GalNAc). The major chondroitin sulfate found in mammalian tissues has sulfate groups at position 4 or 6 of GalNAc residues. Chondroitin 6-sulfotransferase (C6ST) catalyzes the transfer of sulfate from PAPS (3-prime-phosphoadenosine 5-prime-phosphosulfate) to position 6 of the GalNAc residues. By screening a placenta library with a chicken C6ST cDNA, <a href="#11" class="mim-tip-reference" title="Tsutsumi, K., Shimakawa, H., Kitagawa, H., Sugahara, K. <strong>Functional expression and genomic structure of human chondroitin 6-sulfotransferase.</strong> FEBS Lett. 441: 235-241, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9883891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9883891</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)01532-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9883891">Tsutsumi et al. (1998)</a> isolated cDNAs encoding human C6ST. The predicted 479-amino acid protein shares 74% and 36% identity with chick C6ST and human keratan sulfate gal-6-sulfotransferase (CHST1; <a href="/entry/603797">603797</a>), respectively. Recombinant human enzyme displayed C6ST activity with a marked specificity for a GlcA-GalNAc sequence. In addition, C6ST catalyzed the sulfation of keratan sulfate. They noted that a deficiency in C6ST has been associated with a heritable form of spondyloepiphyseal dysplasia (<a href="/entry/271630">271630</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9883891" 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="#2" class="mim-tip-reference" title="Fukuta, M., Kobayashi, Y., Uchimura, K., Kimata, K., Habuchi, O. <strong>Molecular cloning and expression of human chondroitin 6-sulfotransferase.</strong> Biochim. Biophys. Acta 1399: 57-61, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714738</a>] [<a href="https://doi.org/10.1016/s0167-4781(98)00089-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714738">Fukuta et al. (1998)</a> cloned human C6ST cDNAs. Using Northern blot analysis, they found that the 7.8-kb C6ST mRNA was ubiquitous. Smaller transcripts were also observed in skeletal muscle and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714738" 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="#11" class="mim-tip-reference" title="Tsutsumi, K., Shimakawa, H., Kitagawa, H., Sugahara, K. <strong>Functional expression and genomic structure of human chondroitin 6-sulfotransferase.</strong> FEBS Lett. 441: 235-241, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9883891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9883891</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)01532-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9883891">Tsutsumi et al. (1998)</a> reported that the C6ST gene contains 3 exons and spans more than 20 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9883891" 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="#6" class="mim-tip-reference" title="Iida, A., Saito, S., Sekine, A., Mishima, C., Kitamura, Y., Kondo, K., Harigae, S., Osawa, S., Nakamura, Y. <strong>Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes.</strong> J. Hum. Genet. 47: 14-19, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11829137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11829137</a>] [<a href="https://doi.org/10.1007/s10038-002-8650-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11829137">Iida et al. (2002)</a> characterized single-nucleotide polymorphisms and insertion-deletion polymorphisms in both the CHST1 gene (<a href="/entry/603797">603797</a>) and the CHST3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11829137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large inbred Omani kindred with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), <a href="#10" class="mim-tip-reference" title="Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Hohne, W., Ritter, H., Leschik, G., Nurnberg, P., Mundlos, S. <strong>Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.</strong> Proc. Nat. Acad. Sci. 101: 10155-10160, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15215498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15215498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15215498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0400334101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15215498">Thiele et al. (2004)</a> identified a homozygous arg304-to-gln mutation in the CHST3 gene (R304Q; <a href="#0001">603799.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15215498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 unrelated patients born with joint dislocations, some of whom carried a diagnosis of recessive Larsen syndrome and others, humerospinal dysostosis, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified homozygosity or compound heterozygosity for 9 different mutations in the CHST3 gene (see, e.g., <a href="#0002">603799.0002</a>-<a href="#0006">603799.0006</a>). Noting the relatively narrow phenotypic spectrum of these conditions, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> suggested that the disorders previously designated as Omani-type spondyloepiphyseal dysplasia and humerospinal dysostosis, as well as some patients given a diagnosis of recessive Larsen syndrome, might represent different age-related descriptions of the same condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Turkish sibs with spondyloepiphyseal dysplasia and congenital joint dislocations, born of consanguineous parents, <a href="#14" class="mim-tip-reference" title="van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., Verbeke, J. I. L. M., Markie, D., Sugahara, K., Robertson, S. P. <strong>Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.</strong> Am. J. Med. Genet. 146A: 2376-2384, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698629</a>] [<a href="https://doi.org/10.1002/ajmg.a.32482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18698629">van Roij et al. (2008)</a> identified homozygosity for a missense mutation in the CHST3 gene (<a href="#0007">603799.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs and their affected uncle from a consanguineous Turkish pedigree with spondyloepiphyseal dysplasia and subluxation of the radial head, <a href="#12" class="mim-tip-reference" title="Tuysuz, B., Mizumoto, S., Sugahara, K., Celebi, A., Mundlos, S., Turkmen, S. <strong>Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.</strong> Clin. Genet. 75: 375-383, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19320654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19320654</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01167.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19320654">Tuysuz et al. (2009)</a> identified homozygosity for a missense mutation in the CHST3 gene (T141M; <a href="#0009">603799.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19320654" 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="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> identified homozygous or compound heterozygous mutations in CHST3 in 18 patients with spondyloepiphyseal dysplasia and congenital joint dislocations from 17 families. The patients had presented with various diagnoses, including 15 who had been diagnosed with Larsen syndrome (see, e.g., <a href="#0011">603799.0011</a> and <a href="#0012">603799.0012</a>), 2 with chondrodysplasia with multiple dislocations (see, e.g., <a href="#0002">603799.0002</a>), 1 with humerospinal dysostosis (see <a href="#0010">603799.0010</a>), 1 with Desbuquois syndrome (see <a href="/entry/251450">251450</a>), and 1 with spondyloepiphyseal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20830804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Somali half sibs with chondrodysplasia, <a href="#9" class="mim-tip-reference" title="Tanteles, G. A., Dixit, A., Dhar, S., Suri, M. <strong>Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.</strong> Am. J. Med. Genet. 161A: 2588-2593, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23918704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23918704</a>] [<a href="https://doi.org/10.1002/ajmg.a.36094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23918704">Tanteles et al. (2013)</a> identified homozygosity for a missense mutation in the CHST3 gene (<a href="#0013">603799.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23918704" 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 affected members of the large inbred kindred with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), first described by <a href="#8" class="mim-tip-reference" title="Rajab, A., Kunze, J., Mundlos, S. <strong>Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.</strong> Am. J. Med. Genet. 126A: 413-419, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098240</a>] [<a href="https://doi.org/10.1002/ajmg.a.20606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098240">Rajab et al. (2004)</a> and designated 'Omani type,' <a href="#10" class="mim-tip-reference" title="Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Hohne, W., Ritter, H., Leschik, G., Nurnberg, P., Mundlos, S. <strong>Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.</strong> Proc. Nat. Acad. Sci. 101: 10155-10160, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15215498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15215498</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15215498[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0400334101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15215498">Thiele et al. (2004)</a> identified a homozygous 911G-A transition in exon 3 of the CHST3 gene, resulting in an arg304-to-gln (R304Q) substitution. The mutation occurs in the highly conserved 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15215498+15098240" 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 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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">rs121908616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908616;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=rs121908616" 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=rs121908616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 10.5-year-old Turkish-German girl with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), born of consanguineous parents, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified homozygosity for a 776T-C transition in exon 3 of the CHST3 gene, resulting in a leu259-to-pro (L259P) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the L259P mutation severely impaired or abolished CHST3 function. <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> restudied this patient and noted that although she had initially been diagnosed as having Larsen syndrome (see <a href="/entry/245600">245600</a>), there was now clear evidence of SED with severe spinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20830804+18513679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Lebanese boy with SED and congenital joint dislocations, who was originally reported by <a href="#7" class="mim-tip-reference" title="Megarbane, A., Ghanem, I. <strong>A newly recognized chondrodysplasia with multiple dislocations. (Letter)</strong> Am. J. Med. Genet. 130A: 107-109, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368507</a>] [<a href="https://doi.org/10.1002/ajmg.a.30179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368507">Megarbane and Ghanem (2004)</a> and given the diagnosis of 'chondrodysplasia with multiple dislocations,' <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> identified homozygosity for the L259P mutation in the CHST3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20830804+15368507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908617 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908617;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=rs121908617" 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=rs121908617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 17-year-old Swiss patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), born of parents from the same small village, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified homozygosity for a 664C-T transition in exon 3 of the CHST3 gene, resulting in an arg222-to-trp (R222W) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the R222W mutation severely impaired or abolished CHST3 function. <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> restudied this patient and noted that although initially the diagnosis had been Larsen syndrome (see <a href="/entry/245600">245600</a>), there was now clear evidence of SED with severe spinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20830804+18513679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Sardinian boy with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified homozygosity for a 920T-C transition in exon 3 of the CHST3 gene, resulting in a leu307-to-pro (L307P) substitution at a highly conserved residue. The parents were heterozygous for the mutation. Although the patient previously carried a diagnosis of recessive Larsen syndrome (<a href="/entry/245600">245600</a>), the authors noted that his appearance was 'identical' to that of the patient originally reported with humerospinal dysostosis by <a href="#4" class="mim-tip-reference" title="Hall, B. D. <strong>Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.</strong> J. Pediat. Orthop. B 6: 11-14, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039660</a>]" pmid="9039660">Hall (1997)</a> (see <a href="#0010">603799.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18513679+9039660" 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="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> studied cultured fibroblasts from the Sardinian boy who was homozygous for L307P and observed almost no C6ST activity compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20830804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1589509884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1589509884;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=rs1589509884" 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=rs1589509884" 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=RCV000006417" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006417" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006417</a>
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<p>In a 31-year-old Spanish man with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), originally reported as having humerospinal dysostosis (HSD) at 2 years of age by <a href="#1" class="mim-tip-reference" title="Cortina, H., Vidal, J., Vallcanera, A., Alberto, C., Muro, D., Dominguez, F. <strong>Humero-spinal dysostosis.</strong> Pediat. Radiol. 8: 188-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/112567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">112567</a>] [<a href="https://doi.org/10.1007/BF00973833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="112567">Cortina et al. (1979)</a>, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified compound heterozygosity for 2 mutations in the CHST3 gene: a 1-bp deletion (1086delG) in exon 3, resulting in a frameshift and premature termination of the protein, and a 603C-A transversion in exon 3, resulting in a tyr201-to-ter (Y201X; <a href="#0006">603799.0006</a>) substitution at a highly conserved residue. The parents were each heterozygous for one of the mutations; a sister was unaffected. In another Spanish patient who had originally been diagnosed with HSD, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a> identified compound heterozygosity for mutations in the CHST3 gene: 1086delG and a 1114G-A transition in exon 3, resulting in a glu372-to-lys (E372K; <a href="#0008">603799.0008</a>) substitution at a highly conserved residue. The E372K mutation was not found in more than 250 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18513679+112567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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">rs121908619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908619;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=rs121908619" 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=rs121908619" 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=RCV000006418" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006418" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006418</a>
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<p>For discussion of the tyr201-to-ter (Y201X) mutation in the CHST3 gene that was found in compound heterozygous state in a patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD;<a href="/entry/143095">143095</a>) by <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a>, see <a href="#0005">603799.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</strong>
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CHST3, LEU286PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908620 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908620;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=rs121908620" 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=rs121908620" 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=RCV000006419" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006419" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006419</a>
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<p>In 2 Turkish sibs with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), born of second-cousin parents, <a href="#14" class="mim-tip-reference" title="van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., Verbeke, J. I. L. M., Markie, D., Sugahara, K., Robertson, S. P. <strong>Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.</strong> Am. J. Med. Genet. 146A: 2376-2384, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698629</a>] [<a href="https://doi.org/10.1002/ajmg.a.32482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18698629">van Roij et al. (2008)</a> identified homozygosity for an 857T-C transition in the CHST3 gene, predicted to result in a leu286-to-pro (L286P) substitution at a highly conserved residue adjacent to the binding site for PAPS. Functional studies in patient fibroblasts showed dramatically reduced C6ST1 activity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</strong>
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CHST3, GLU372LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606734;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=rs267606734" 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=rs267606734" 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=RCV000006414" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006414" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006414</a>
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<p>For discussion of the glu372-to-lys (E372K) mutation in the CHST3 gene that was found in compound heterozygous state in a patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD;<a href="/entry/143095">143095</a>) by <a href="#5" class="mim-tip-reference" title="Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A. <strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong> Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513679">Hermanns et al. (2008)</a>, see <a href="#0005">603799.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</strong>
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CHST3, THR141MET
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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> rs267606735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606735;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/rs267606735?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=rs267606735" 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=rs267606735" 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=RCV000006420" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006420" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006420</a>
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<p>In 2 affected sibs and their affected paternal uncle in a consanguineous Turkish pedigree with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), <a href="#12" class="mim-tip-reference" title="Tuysuz, B., Mizumoto, S., Sugahara, K., Celebi, A., Mundlos, S., Turkmen, S. <strong>Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.</strong> Clin. Genet. 75: 375-383, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19320654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19320654</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01167.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19320654">Tuysuz et al. (2009)</a> identified homozygosity for a 422C-T transition in exon 3 of the CHST3 gene, resulting in a thr141-to-met (T141M) substitution at a conserved residue. Western blot analysis showed comparable expression levels of the mutant and wildtype proteins, but sulfotransferase activity of the mutant was reduced to less than 30% of wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19320654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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> rs145538723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145538723;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/rs145538723?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=rs145538723" 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=rs145538723" 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=RCV000006421 OR RCV001596932" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006421, RCV001596932" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006421...</a>
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<p>In a 15-year-old patient with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Hall, B. D. <strong>Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.</strong> J. Pediat. Orthop. B 6: 11-14, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039660</a>]" pmid="9039660">Hall (1997)</a> with a diagnosis of humerospinal dysostosis, <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> identified homozygosity for a 475T-A transversion in the CHST3 gene, resulting in a phe159-to-ile (F159I) substitution. The mutation was not found in more than 250 control chromosomes. Follow-up evaluation of the patient by <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> showed a dysplastic mitral valve with stenosis and moderate insufficiency, as well as a mildly thickened aortic valve. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20830804+9039660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606733 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606733;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=rs267606733" 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=rs267606733" 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=RCV000006422" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006422" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006422</a>
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<p>In a patient with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), who was referred for evaluation of presumed Larsen syndrome (see <a href="/entry/245600">245600</a>), <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> identified homozygosity for a 481C-T transition in the CHST3 gene, resulting in a leu161-to-phe (L161F) substitution. The mutation was not found in more than 250 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20830804" 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>.0012 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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">rs267606732 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606732;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=rs267606732" 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=rs267606732" 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=RCV000006423" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006423" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006423</a>
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<p>In a patient with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; <a href="/entry/143095">143095</a>), who had initially been diagnosed with Larsen syndrome (see <a href="/entry/150250">150250</a>) but who was negative for mutation in the FLNB gene (<a href="/entry/603381">603381</a>), <a href="#13" class="mim-tip-reference" title="Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others. <strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong> Am. J. Med. Genet. 152A: 2543-2549, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>] [<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20830804">Unger et al. (2010)</a> identified homozygosity for a 988C-T transition in the CHST3 gene, resulting in a gln330-to-ter (Q330X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20830804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs747171013 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs747171013;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=rs747171013" 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=rs747171013" 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=RCV000210956" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210956" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210956</a>
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<p>In a 14-year-old Somali girl and her 3-year-old maternal half brother with chondrodysplasia (SEDCJD; <a href="/entry/143095">143095</a>), <a href="#9" class="mim-tip-reference" title="Tanteles, G. A., Dixit, A., Dhar, S., Suri, M. <strong>Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.</strong> Am. J. Med. Genet. 161A: 2588-2593, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23918704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23918704</a>] [<a href="https://doi.org/10.1002/ajmg.a.36094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23918704">Tanteles et al. (2013)</a> identified homozygosity for a c.1063G-A transition in exon 3 of the CHST3 gene, resulting in a gly355-to-arg (G355R) substitution at a highly conserved residue. The boy was born with dislocated knees and clubfeet, whereas the girl presented at 5 years of age with short stature and genua valga. Their unaffected parents were heterozygous for the mutation; the sibs had different fathers, who both originated from the same village. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23918704" 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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Cortina, H., Vidal, J., Vallcanera, A., Alberto, C., Muro, D., Dominguez, F.
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<strong>Humero-spinal dysostosis.</strong>
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Pediat. Radiol. 8: 188-190, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/112567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">112567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=112567" 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/BF00973833" target="_blank">Full Text</a>]
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Fukuta, M., Kobayashi, Y., Uchimura, K., Kimata, K., Habuchi, O.
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<strong>Molecular cloning and expression of human chondroitin 6-sulfotransferase.</strong>
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Biochim. Biophys. Acta 1399: 57-61, 1998.
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[<a href="https://doi.org/10.1016/s0167-4781(98)00089-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.05.006" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11829137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11829137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11829137" 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/s10038-002-8650-9" target="_blank">Full Text</a>]
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<strong>A newly recognized chondrodysplasia with multiple dislocations. (Letter)</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.30179" target="_blank">Full Text</a>]
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<strong>Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20606" target="_blank">Full Text</a>]
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Tanteles, G. A., Dixit, A., Dhar, S., Suri, M.
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<strong>Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.</strong>
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Am. J. Med. Genet. 161A: 2588-2593, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23918704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23918704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23918704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36094" target="_blank">Full Text</a>]
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Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Hohne, W., Ritter, H., Leschik, G., Nurnberg, P., Mundlos, S.
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[<a href="https://doi.org/10.1073/pnas.0400334101" target="_blank">Full Text</a>]
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<a id="Tsutsumi1998" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0014-5793(98)01532-4" target="_blank">Full Text</a>]
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Tuysuz, B., Mizumoto, S., Sugahara, K., Celebi, A., Mundlos, S., Turkmen, S.
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<strong>Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19320654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19320654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19320654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01167.x" target="_blank">Full Text</a>]
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Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others.
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<strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20830804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20830804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20830804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33641" target="_blank">Full Text</a>]
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van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., Verbeke, J. I. L. M., Markie, D., Sugahara, K., Robertson, S. P.
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<strong>Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32482" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 5/21/2014<br>Marla J. F. O'Neill - updated : 11/18/2010<br>Marla J. F. O'Neill - updated : 4/1/2009<br>Marla J. F. O'Neill - updated : 9/18/2008<br>Victor A. McKusick - updated : 9/1/2004<br>Victor A. McKusick - updated : 2/13/2002
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Rebekah S. Rasooly : 5/11/1999
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carol : 05/03/2016<br>carol : 8/17/2015<br>mcolton : 8/12/2015<br>mgross : 5/21/2014<br>carol : 9/24/2013<br>carol : 5/10/2012<br>carol : 11/18/2010<br>carol : 11/18/2010<br>carol : 6/25/2009<br>wwang : 4/15/2009<br>terry : 4/1/2009<br>joanna : 9/24/2008<br>wwang : 9/23/2008<br>terry : 9/18/2008<br>tkritzer : 9/7/2004<br>tkritzer : 9/3/2004<br>tkritzer : 9/2/2004<br>terry : 9/1/2004<br>mgross : 2/21/2002<br>mgross : 2/13/2002<br>alopez : 5/11/1999<br>alopez : 5/11/1999
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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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CHONDROITIN 6-SULFOTRANSFERASE; C6ST<br />
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C6ST1
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CHST3</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> 702400006, 725417001;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 10q22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:71,964,395-72,013,558 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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10q22.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spondyloepiphyseal dysplasia with congenital joint dislocations
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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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143095
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chondroitin sulfate proteoglycans, which consist of a core protein with at least 1 covalently attached glycosaminoglycan (GAG) chain, are distributed on the surfaces of most cells and the extracellular matrix in virtually every tissue. See 118661. Chondroitin sulfate has a linear polymer structure that possesses repetitive, sulfated disaccharide units containing glucuronic acid (GlcA) and N-acetylgalactosamine (GalNAc). The major chondroitin sulfate found in mammalian tissues has sulfate groups at position 4 or 6 of GalNAc residues. Chondroitin 6-sulfotransferase (C6ST) catalyzes the transfer of sulfate from PAPS (3-prime-phosphoadenosine 5-prime-phosphosulfate) to position 6 of the GalNAc residues. By screening a placenta library with a chicken C6ST cDNA, Tsutsumi et al. (1998) isolated cDNAs encoding human C6ST. The predicted 479-amino acid protein shares 74% and 36% identity with chick C6ST and human keratan sulfate gal-6-sulfotransferase (CHST1; 603797), respectively. Recombinant human enzyme displayed C6ST activity with a marked specificity for a GlcA-GalNAc sequence. In addition, C6ST catalyzed the sulfation of keratan sulfate. They noted that a deficiency in C6ST has been associated with a heritable form of spondyloepiphyseal dysplasia (271630). </p><p>Independently, Fukuta et al. (1998) cloned human C6ST cDNAs. Using Northern blot analysis, they found that the 7.8-kb C6ST mRNA was ubiquitous. Smaller transcripts were also observed in skeletal muscle and heart. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tsutsumi et al. (1998) reported that the C6ST gene contains 3 exons and spans more than 20 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2014) mapped the CHST3 gene to chromosome 10q22.1 based on an alignment of the CHST3 sequence (GenBank AB012192) with the genomic sequence (GRCh37).</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>Iida et al. (2002) characterized single-nucleotide polymorphisms and insertion-deletion polymorphisms in both the CHST1 gene (603797) and the CHST3 gene. </p><p>In affected members of a large inbred Omani kindred with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), Thiele et al. (2004) identified a homozygous arg304-to-gln mutation in the CHST3 gene (R304Q; 603799.0001). </p><p>In 6 unrelated patients born with joint dislocations, some of whom carried a diagnosis of recessive Larsen syndrome and others, humerospinal dysostosis, Hermanns et al. (2008) identified homozygosity or compound heterozygosity for 9 different mutations in the CHST3 gene (see, e.g., 603799.0002-603799.0006). Noting the relatively narrow phenotypic spectrum of these conditions, Hermanns et al. (2008) suggested that the disorders previously designated as Omani-type spondyloepiphyseal dysplasia and humerospinal dysostosis, as well as some patients given a diagnosis of recessive Larsen syndrome, might represent different age-related descriptions of the same condition. </p><p>In 2 Turkish sibs with spondyloepiphyseal dysplasia and congenital joint dislocations, born of consanguineous parents, van Roij et al. (2008) identified homozygosity for a missense mutation in the CHST3 gene (603799.0007). </p><p>In 2 sibs and their affected uncle from a consanguineous Turkish pedigree with spondyloepiphyseal dysplasia and subluxation of the radial head, Tuysuz et al. (2009) identified homozygosity for a missense mutation in the CHST3 gene (T141M; 603799.0009). </p><p>Unger et al. (2010) identified homozygous or compound heterozygous mutations in CHST3 in 18 patients with spondyloepiphyseal dysplasia and congenital joint dislocations from 17 families. The patients had presented with various diagnoses, including 15 who had been diagnosed with Larsen syndrome (see, e.g., 603799.0011 and 603799.0012), 2 with chondrodysplasia with multiple dislocations (see, e.g., 603799.0002), 1 with humerospinal dysostosis (see 603799.0010), 1 with Desbuquois syndrome (see 251450), and 1 with spondyloepiphyseal dysplasia. </p><p>In 2 Somali half sibs with chondrodysplasia, Tanteles et al. (2013) identified homozygosity for a missense mutation in the CHST3 gene (603799.0013). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, ARG304GLN
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<br />
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SNP: rs28937593,
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ClinVar: RCV000006412
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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 affected members of the large inbred kindred with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; 143095), first described by Rajab et al. (2004) and designated 'Omani type,' Thiele et al. (2004) identified a homozygous 911G-A transition in exon 3 of the CHST3 gene, resulting in an arg304-to-gln (R304Q) substitution. The mutation occurs in the highly conserved 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) binding site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, LEU259PRO
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<br />
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SNP: rs121908616,
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ClinVar: RCV000006413
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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 10.5-year-old Turkish-German girl with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), born of consanguineous parents, Hermanns et al. (2008) identified homozygosity for a 776T-C transition in exon 3 of the CHST3 gene, resulting in a leu259-to-pro (L259P) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the L259P mutation severely impaired or abolished CHST3 function. Unger et al. (2010) restudied this patient and noted that although she had initially been diagnosed as having Larsen syndrome (see 245600), there was now clear evidence of SED with severe spinal degeneration. </p><p>In a Lebanese boy with SED and congenital joint dislocations, who was originally reported by Megarbane and Ghanem (2004) and given the diagnosis of 'chondrodysplasia with multiple dislocations,' Unger et al. (2010) identified homozygosity for the L259P mutation in the CHST3 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, ARG222TRP
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<br />
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SNP: rs121908617,
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ClinVar: RCV000006415
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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 17-year-old Swiss patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; 143095), born of parents from the same small village, Hermanns et al. (2008) identified homozygosity for a 664C-T transition in exon 3 of the CHST3 gene, resulting in an arg222-to-trp (R222W) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the R222W mutation severely impaired or abolished CHST3 function. Unger et al. (2010) restudied this patient and noted that although initially the diagnosis had been Larsen syndrome (see 245600), there was now clear evidence of SED with severe spinal degeneration. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, LEU307PRO
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<br />
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SNP: rs121908618,
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ClinVar: RCV000006416
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Sardinian boy with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), Hermanns et al. (2008) identified homozygosity for a 920T-C transition in exon 3 of the CHST3 gene, resulting in a leu307-to-pro (L307P) substitution at a highly conserved residue. The parents were heterozygous for the mutation. Although the patient previously carried a diagnosis of recessive Larsen syndrome (245600), the authors noted that his appearance was 'identical' to that of the patient originally reported with humerospinal dysostosis by Hall (1997) (see 603799.0010). </p><p>Unger et al. (2010) studied cultured fibroblasts from the Sardinian boy who was homozygous for L307P and observed almost no C6ST activity compared to controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, 1-BP DEL, 1086G
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<br />
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SNP: rs1589509884,
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ClinVar: RCV000006417
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 31-year-old Spanish man with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; 143095), originally reported as having humerospinal dysostosis (HSD) at 2 years of age by Cortina et al. (1979), Hermanns et al. (2008) identified compound heterozygosity for 2 mutations in the CHST3 gene: a 1-bp deletion (1086delG) in exon 3, resulting in a frameshift and premature termination of the protein, and a 603C-A transversion in exon 3, resulting in a tyr201-to-ter (Y201X; 603799.0006) substitution at a highly conserved residue. The parents were each heterozygous for one of the mutations; a sister was unaffected. In another Spanish patient who had originally been diagnosed with HSD, Hermanns et al. (2008) identified compound heterozygosity for mutations in the CHST3 gene: 1086delG and a 1114G-A transition in exon 3, resulting in a glu372-to-lys (E372K; 603799.0008) substitution at a highly conserved residue. The E372K mutation was not found in more than 250 control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, TYR201TER
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<br />
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SNP: rs121908619,
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ClinVar: RCV000006418
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the tyr201-to-ter (Y201X) mutation in the CHST3 gene that was found in compound heterozygous state in a patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD;143095) by Hermanns et al. (2008), see 603799.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, LEU286PRO
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<br />
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SNP: rs121908620,
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ClinVar: RCV000006419
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Turkish sibs with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), born of second-cousin parents, van Roij et al. (2008) identified homozygosity for an 857T-C transition in the CHST3 gene, predicted to result in a leu286-to-pro (L286P) substitution at a highly conserved residue adjacent to the binding site for PAPS. Functional studies in patient fibroblasts showed dramatically reduced C6ST1 activity compared to wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0008 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, GLU372LYS
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<br />
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SNP: rs267606734,
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ClinVar: RCV000006414
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the glu372-to-lys (E372K) mutation in the CHST3 gene that was found in compound heterozygous state in a patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD;143095) by Hermanns et al. (2008), see 603799.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, THR141MET
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<br />
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SNP: rs267606735,
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gnomAD: rs267606735,
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ClinVar: RCV000006420
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected sibs and their affected paternal uncle in a consanguineous Turkish pedigree with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), Tuysuz et al. (2009) identified homozygosity for a 422C-T transition in exon 3 of the CHST3 gene, resulting in a thr141-to-met (T141M) substitution at a conserved residue. Western blot analysis showed comparable expression levels of the mutant and wildtype proteins, but sulfotransferase activity of the mutant was reduced to less than 30% of wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0010 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, PHE159ILE
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<br />
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SNP: rs145538723,
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gnomAD: rs145538723,
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ClinVar: RCV000006421, RCV001596932
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 15-year-old patient with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), originally reported by Hall (1997) with a diagnosis of humerospinal dysostosis, Unger et al. (2010) identified homozygosity for a 475T-A transversion in the CHST3 gene, resulting in a phe159-to-ile (F159I) substitution. The mutation was not found in more than 250 control chromosomes. Follow-up evaluation of the patient by Unger et al. (2010) showed a dysplastic mitral valve with stenosis and moderate insufficiency, as well as a mildly thickened aortic valve. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0011 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</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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CHST3, LEU161PHE
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<br />
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SNP: rs267606733,
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ClinVar: RCV000006422
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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 spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), who was referred for evaluation of presumed Larsen syndrome (see 245600), Unger et al. (2010) identified homozygosity for a 481C-T transition in the CHST3 gene, resulting in a leu161-to-phe (L161F) substitution. The mutation was not found in more than 250 control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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CHST3, GLN330TER
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<br />
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SNP: rs267606732,
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ClinVar: RCV000006423
|
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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 spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), who had initially been diagnosed with Larsen syndrome (see 150250) but who was negative for mutation in the FLNB gene (603381), Unger et al. (2010) identified homozygosity for a 988C-T transition in the CHST3 gene, resulting in a gln330-to-ter (Q330X) substitution. </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>.0013 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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CHST3, GLY355ARG
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<br />
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SNP: rs747171013,
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ClinVar: RCV000210956
|
|
|
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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 14-year-old Somali girl and her 3-year-old maternal half brother with chondrodysplasia (SEDCJD; 143095), Tanteles et al. (2013) identified homozygosity for a c.1063G-A transition in exon 3 of the CHST3 gene, resulting in a gly355-to-arg (G355R) substitution at a highly conserved residue. The boy was born with dislocated knees and clubfeet, whereas the girl presented at 5 years of age with short stature and genua valga. Their unaffected parents were heterozygous for the mutation; the sibs had different fathers, who both originated from the same village. </p>
|
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cortina, H., Vidal, J., Vallcanera, A., Alberto, C., Muro, D., Dominguez, F.
|
|
<strong>Humero-spinal dysostosis.</strong>
|
|
Pediat. Radiol. 8: 188-190, 1979.
|
|
|
|
|
|
[PubMed: 112567]
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|
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|
[Full Text: https://doi.org/10.1007/BF00973833]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Fukuta, M., Kobayashi, Y., Uchimura, K., Kimata, K., Habuchi, O.
|
|
<strong>Molecular cloning and expression of human chondroitin 6-sulfotransferase.</strong>
|
|
Biochim. Biophys. Acta 1399: 57-61, 1998.
|
|
|
|
|
|
[PubMed: 9714738]
|
|
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|
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[Full Text: https://doi.org/10.1016/s0167-4781(98)00089-x]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 5/21/2014.
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hall, B. D.
|
|
<strong>Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.</strong>
|
|
J. Pediat. Orthop. B 6: 11-14, 1997.
|
|
|
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|
|
[PubMed: 9039660]
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hermanns, P., Unger, S., Rossi, A., Perez-Aytes, A., Cortina, H., Bonafe, L., Boccone, L., Setzu, V., Dutoit, M., Sangiorgi, L., Pecora, F., Reicherter, K., Nishimura, G., Spranger, J., Zabel, B., Superti-Furga, A.
|
|
<strong>Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.</strong>
|
|
Am. J. Hum. Genet. 82: 1368-1374, 2008. Note: Erratum: Am. J. Hum. Genet. 83: 293 only, 2008.
|
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|
[PubMed: 18513679]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.05.006]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Iida, A., Saito, S., Sekine, A., Mishima, C., Kitamura, Y., Kondo, K., Harigae, S., Osawa, S., Nakamura, Y.
|
|
<strong>Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes.</strong>
|
|
J. Hum. Genet. 47: 14-19, 2002.
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|
|
[PubMed: 11829137]
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[Full Text: https://doi.org/10.1007/s10038-002-8650-9]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Megarbane, A., Ghanem, I.
|
|
<strong>A newly recognized chondrodysplasia with multiple dislocations. (Letter)</strong>
|
|
Am. J. Med. Genet. 130A: 107-109, 2004.
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|
|
[PubMed: 15368507]
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[Full Text: https://doi.org/10.1002/ajmg.a.30179]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Rajab, A., Kunze, J., Mundlos, S.
|
|
<strong>Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.</strong>
|
|
Am. J. Med. Genet. 126A: 413-419, 2004.
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|
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|
|
[PubMed: 15098240]
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[Full Text: https://doi.org/10.1002/ajmg.a.20606]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tanteles, G. A., Dixit, A., Dhar, S., Suri, M.
|
|
<strong>Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.</strong>
|
|
Am. J. Med. Genet. 161A: 2588-2593, 2013.
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|
|
[PubMed: 23918704]
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[Full Text: https://doi.org/10.1002/ajmg.a.36094]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Hohne, W., Ritter, H., Leschik, G., Nurnberg, P., Mundlos, S.
|
|
<strong>Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 10155-10160, 2004.
|
|
|
|
|
|
[PubMed: 15215498]
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|
|
[Full Text: https://doi.org/10.1073/pnas.0400334101]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tsutsumi, K., Shimakawa, H., Kitagawa, H., Sugahara, K.
|
|
<strong>Functional expression and genomic structure of human chondroitin 6-sulfotransferase.</strong>
|
|
FEBS Lett. 441: 235-241, 1998.
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|
|
[PubMed: 9883891]
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[Full Text: https://doi.org/10.1016/s0014-5793(98)01532-4]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Tuysuz, B., Mizumoto, S., Sugahara, K., Celebi, A., Mundlos, S., Turkmen, S.
|
|
<strong>Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.</strong>
|
|
Clin. Genet. 75: 375-383, 2009.
|
|
|
|
|
|
[PubMed: 19320654]
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01167.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I. F. M., and 17 others.
|
|
<strong>Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.</strong>
|
|
Am. J. Med. Genet. 152A: 2543-2549, 2010.
|
|
|
|
|
|
[PubMed: 20830804]
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33641]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., Verbeke, J. I. L. M., Markie, D., Sugahara, K., Robertson, S. P.
|
|
<strong>Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.</strong>
|
|
Am. J. Med. Genet. 146A: 2376-2384, 2008.
|
|
|
|
|
|
[PubMed: 18698629]
|
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32482]
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</p>
|
|
</li>
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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</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">
|
|
Marla J. F. O'Neill - updated : 05/03/2016<br>Matthew B. Gross - updated : 5/21/2014<br>Marla J. F. O'Neill - updated : 11/18/2010<br>Marla J. F. O'Neill - updated : 4/1/2009<br>Marla J. F. O'Neill - updated : 9/18/2008<br>Victor A. McKusick - updated : 9/1/2004<br>Victor A. McKusick - updated : 2/13/2002
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
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<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">
|
|
Rebekah S. Rasooly : 5/11/1999
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carol : 09/13/2022<br>carol : 05/03/2016<br>carol : 8/17/2015<br>mcolton : 8/12/2015<br>mgross : 5/21/2014<br>carol : 9/24/2013<br>carol : 5/10/2012<br>carol : 11/18/2010<br>carol : 11/18/2010<br>carol : 6/25/2009<br>wwang : 4/15/2009<br>terry : 4/1/2009<br>joanna : 9/24/2008<br>wwang : 9/23/2008<br>terry : 9/18/2008<br>tkritzer : 9/7/2004<br>tkritzer : 9/3/2004<br>tkritzer : 9/2/2004<br>terry : 9/1/2004<br>mgross : 2/21/2002<br>mgross : 2/13/2002<br>alopez : 5/11/1999<br>alopez : 5/11/1999
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