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<title>
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Entry
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- *615291 - BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6
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- OMIM
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*615291</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615291">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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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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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000176022;t=ENST00000379198" 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=126792" 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=615291" 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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000176022;t=ENST00000379198" 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_080605" 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_080605" 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=615291" 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://www.proteinatlas.org/search/B3GALT6" 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/61211870,71297396,116268097,119576673" 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/Q96L58" 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=126792" 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=ENSG00000176022;t=ENST00000379198" 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=B3GALT6" 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=B3GALT6" 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+126792" 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/B3GALT6" 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:126792" 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/126792" 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=chr1&hgg_gene=ENST00000379198.5&hgg_start=1232237&hgg_end=1235041&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17978" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17978" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615291[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=615291[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/B3GALT6/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/ENSG00000176022" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=B3GALT6" 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=B3GALT6" 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=B3GALT6&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/PA25214" 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:17978" 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/FBgn0033315.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:2152819" 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/B3GALT6#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:2152819" 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/126792/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=126792" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00005020;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-101104-13" 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:126792" 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=B3GALT6&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> 1208342001, 1251499005, 1286833006<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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615291
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
UDP-GAL:BETA-GAL BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6<br />
|
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GALACTOSYLTRANSFERASE II; GALTII<br />
|
|
BETA-3-GALT6
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=B3GALT6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">B3GALT6</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/1/33?start=-3&limit=10&highlight=33">1p36.33</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:1232237-1235041&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'})">1:1,232,237-1,235,041</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>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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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>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=609465,615349,271640" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
|
|
<th>
|
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Phenotype <br /> MIM number
|
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</th>
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Inheritance
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Phenotype <br /> mapping key
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1p36.33
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Ehlers-Danlos syndrome, spondylodysplastic type, 2
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<a href="/entry/615349"> 615349 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/615291" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615291" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<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.">
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<strong>TEXT</strong>
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<p>Glycosaminoglycan biosynthesis initiates with the formation of a linkage tetrasaccharide that serves as a primer, followed by sequential transfer of monosaccharide residues from the corresponding nucleotide sugars starting at the reducing end. B3GALNT6 (<a href="https://enzyme.expasy.org/EC/2.4.1.134" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.134</a>) forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate (<a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11551958" 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>Cloning and Expression</strong>
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<p>By searching an EST database for sequences similar to mouse beta-1,3-galactosyltransferases (see B3GALT1, <a href="/entry/603093">603093</a>), followed by screening a human fetal brain cDNA library and a newborn mouse brain cDNA library, <a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al. (2001)</a> cloned human and mouse B3GALT6, which they designated GALTII. The deduced human and mouse proteins contain 329 and 325 amino acids, respectively. GALTII is a typical type II transmembrane protein, with a transmembrane domain near the N terminus and a C-terminal galactosyltransferase domain containing a conserved cysteine residue. Northern blot analysis detected variable expression of transcripts of about 1.6, 2.4, and 3.3 kb in all 16 human tissues examined. Fluorescence-tagged GALTII colocalized with alpha-mannosidase II (MAN2A1; <a href="/entry/154582">154582</a>), a marker of the medial Golgi. <a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al. (2001)</a> noted that the sequence and expression pattern of B3GALT6 had erroneously been reported as that of B3GNT2 (<a href="/entry/605581">605581</a>) in a previous publication (<a href="#10" class="mim-tip-reference" title="Zhou, D., Dinter, A., Gallego, R. G., Kamerling, J. P., Vliegenthart, J. F. G., Berger, E. G., Hennet, T. <strong>A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.</strong> Proc. Nat. Acad. Sci. 96: 406-411, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 97: 11673-11675, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9892646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9892646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9892646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.2.406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9892646">Zhou et al., 1999</a>) due to a clerical error. The correct B3GNT2 sequence and expression pattern were provided in an erratum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11551958+9892646" 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>Gene Function</strong>
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<p><a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al. (2001)</a> found that human GALTII expressed in insect cells showed strict requirement for UDP-Gal as a Gal donor. For a substrate, it reacted strongly with Gal-beta-1,4-xylosyl-beta-O-benzyl, which is found in the linkage region of glycosaminoglycans. It also used simple beta-galactosides and other glycans with terminal beta-linked Gal residues. Knockdown of GALTII in HeLa cells inhibited synthesis of both heparan sulfate and chondroitin sulfate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11551958" 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>Gene Structure</strong>
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<p><a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al. (2001)</a> determined that B3GALT6 is a single-exon gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11551958" 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>Mapping</strong>
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<p>By genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D. <strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong> J. Biol. Chem. 276: 48189-48195, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>] [<a href="https://doi.org/10.1074/jbc.M107339200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11551958">Bai et al. (2001)</a> mapped the B3GALT6 gene to chromosome 1p36.3. They mapped the mouse B3galt6 gene to a region of chromosome 4E2 that shares homology of synteny with human chromosome 1p36.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11551958" 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><strong><em>Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures</em></strong></p><p>
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By next-generation sequencing in 7 individuals, including 2 sibs, with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>) from 5 unrelated Japanese families and a Singapore/Japanese family, <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified possible mutations in the B3GALT6 gene. By direct sequencing of this gene in these 7 patients and an additional patient with JEMDJL1 from a Vietnamese family, they identified compound heterozygous missense mutations in all but 1 in whom a second mutation was not found (<a href="#0001">615291.0001</a>-<a href="#0006">615291.0006</a>). One of the mutations (M1?; <a href="#0001">615291.0001</a>) was found in 5 of the 7 families. None of the mutations were found in 200 ethnically matched controls or in public databases, including the 1000 Genomes Project database. Immunocytochemical studies of mutant proteins showed subcellular mislocalization of all but 2 (D156N, <a href="#0003">615291.0003</a> and C300S, <a href="#0004">615291.0004</a>). Galt-II activities of all mutant proteins were significantly decreased compared to wildtype, indicating loss of function. There were no significant differences in GALT-II activities between wildtype and a common B3GALT6 polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12085009;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs12085009</a>). Biochemical studies using patient lymphoblastoid cells showed a decrease of heparan sulfate and a paradoxical increase of chondroitin sulfate and dermatan sulfate on the cell surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By homozygosity mapping and candidate gene sequence analysis in 3 unrelated Iranian families segregating SEMDJL1 with fractures, <a href="#6" class="mim-tip-reference" title="Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A. <strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong> Am. J. Hum. Genet. 92: 935-945, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664118[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.2013.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664118">Malfait et al. (2013)</a> identified homozygous or compound heterozygous mutations in the B3GALT6 gene (<a href="#0012">615291.0012</a>-<a href="#0014">615291.0014</a>), which segregated with the disorder in each family. Patient fibroblasts exhibited a large decrease in ability to prime glycosaminoglycan synthesis together with impaired glycanation of the small chondroitin/dermatan sulfate proteoglycan decorin, confirming B3GALT6 loss of function. Dermal electron microscopy showed abnormalities in collagen fibril organization. A strong reduction in heparan sulfate level was also observed, indicating that B3GALT6 deficiency alters synthesis of both main types of glycosaminoglycans. An in vitro wound healing assay revealed a significant delay in fibroblasts from 2 index individuals, pointing to a role for glycosaminoglycan defect in impaired wound repair in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2</em></strong></p><p>
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Because some of the patients with SEMDJL1 in whom they had identified mutations in the B3GALT6 gene had some overlapping features with a progeroid form of Ehlers-Danlos syndrome (EDSSPD2; <a href="/entry/615349">615349</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> performed Sanger sequencing of the B3GALT6 gene in 4 patients from 3 families who did not have a mutation in the B4GALT7 gene (<a href="/entry/604327">604327</a>). All 4 patients were found to be compound heterozygous for a frameshift and a missense mutation in the B3GALT6 gene (<a href="#0007">615291.0007</a>-<a href="#0011">615291.0011</a>). A missense mutation that was common in 2 EDSSPD2 families (S309T; <a href="#0008">615291.0008</a>) was found to have significantly decreased GalT-II activities compared to wildtype, indicating loss of function. None of the mutations were found in 200 ethnically matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using whole-exome, panel, and direct gene sequencing of 12 patients from 9 families with EDSSPD2, <a href="#9" class="mim-tip-reference" title="Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., and 10 others. <strong>Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.</strong> Hum. Molec. Genet. 27: 3475-3487, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29931299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29931299</a>] [<a href="https://doi.org/10.1093/hmg/ddy234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29931299">Van Damme et al. (2018)</a> identified 8 compound heterozygous mutations and 1 homozygous (<a href="#0015">615291.0015</a>) mutation in the B3GALT6 gene, including 11 missense variants, 2 frameshift variants, a deletion of 19 amino acids, and a start codon alteration. Most mutations were located in the luminal domain. In families in which parental DNA was available, mutations segregated as expected. Studies in fibroblasts showed that these mutations reduced the amount and activity of B3GALT6, which in turn reduced glycosaminoglycan synthesis and produced ultrastructural abnormalities in collagen fibril organization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29931299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Al-Gazali Syndrome</em></strong></p><p>
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In an infant with Al-Gazali syndrome (ALGAZ; <a href="/entry/609465">609465</a>), <a href="#8" class="mim-tip-reference" title="Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., Schaefer, G. B. <strong>A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</strong> Semin. Pediat. Neurol. 21: 84-87, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25149931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25149931</a>] [<a href="https://doi.org/10.1016/j.spen.2014.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25149931">Sellars et al. (2014)</a> identified compound heterozygous missense mutations in the B3GALT6 gene (S159Y, <a href="#0016">615291.0016</a>; E265D, <a href="#0017">615291.0017</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25149931" 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 1 of the Palestinian infants with Al-Gazali syndrome reported by <a href="#1" class="mim-tip-reference" title="al-Gazali, L. I., Bakir, M., Sadaghatian, M. R., Nath, R., Haas, D. <strong>Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.</strong> Clin. Dysmorph. 8: 87-92, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319196</a>]" pmid="10319196">al-Gazali et al. (1999)</a>, <a href="#4" class="mim-tip-reference" title="Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L. <strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong> Clin. Genet. 93: 1148-1158, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29443383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29443383</a>] [<a href="https://doi.org/10.1111/cge.13236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29443383">Ben-Mahmoud et al. (2018)</a> identified homozygosity for a missense mutation in the B3GALT6 gene (C206W; <a href="#0018">615291.0018</a>). The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10319196+29443383" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>19 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=615291[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786200938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200938;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/rs786200938?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=rs786200938" 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=rs786200938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 affected individuals from 4 families with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.1A-G transition resulting in a met1? substitution and another missense mutation. Four of the families were Japanese and 1 was Singapore/Japanese. In another affected Japanese patient, the mutation was found in heterozygous state. The Met1? mutation resulted in a mutant B3GALT6 protein with a molecular weight approximately 4 kD lower than the wildtype protein, suggesting that translation initiation at the second ATG of the coding sequence, at position c.124, would become the initiation codon, probably resulting in an N-terminal deletion of 41 amino acids (Met1_Ala41del), in the same open reading frame that contains the transmembrane domain. Immunofluorescence studies showed that the mutant protein mislocalized to the nucleus and cytoplasm, indicating that the protein was functionally null. The mutation was not detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514717;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/rs397514717?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=rs397514717" 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=rs397514717" 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=RCV000054391 OR RCV001753471 OR RCV003764725" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054391, RCV001753471, RCV003764725" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054391...</a>
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<p>In affected individuals from 3 Japanese families and 1 Vietnamese family with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 missense mutations in the B3GALT6 gene, one of which was a c.694C-T transition resulting in an arg232-to-cys (R232C) substitution. The mutation was not detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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">rs397514718 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514718;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=rs397514718" 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=rs397514718" 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 Japanese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 missense mutations in the B3GALT6 gene: a c.466G-A transition resulting in an asp156-to-asn (D156N) substitution, and a Met1? substitution (<a href="#0001">615291.0001</a>). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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">rs786200939 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200939;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=rs786200939" 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=rs786200939" 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 Japanese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.899G-C transversion resulting in a cys300-to-ser (C300S) substitution, and an R232C substitution (<a href="#0002">615291.0002</a>). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514719 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514719;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/rs397514719?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=rs397514719" 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=rs397514719" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>) from a Singapore/Japanese family, <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.193A-G transition resulting in a ser65-to-gly (S65G) substitution, and a met1? substitution (<a href="#0001">615291.0001</a>). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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">rs397514720 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514720;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=rs397514720" 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=rs397514720" 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=RCV000054395 OR RCV001853074" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054395, RCV001853074" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054395...</a>
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<p>In a Vietnamese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.200C-T transition resulting in a pro67-to-leu substitution, and an R232C substitution (<a href="#0002">615291.0002</a>). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</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> rs750088530 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750088530;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/rs750088530?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=rs750088530" 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=rs750088530" 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=RCV000054396 OR RCV002513707 OR RCV004589545" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054396, RCV002513707, RCV004589545" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054396...</a>
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<p>In an Italian patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a 1-bp deletion (c.353delA) resulting in a frameshift (Asp118AlafsTer160), and a ser309-to-thr (S309T; <a href="#0008">615291.0008</a>) substitution. Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514721;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/rs397514721?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=rs397514721" 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=rs397514721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 affected members of an Italian/Canadian family with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a 925T-A transversion resulting in a ser309-to-thr (S309T) substitution, and a 1-bp deletion (c.588delG; <a href="#0009">615291.0009</a>) resulting in a frameshift (Arg197AlafsTer81). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> also detected this mutation in compound heterozygosity with a c.353delA mutation (<a href="#0007">615291.0007</a>) in an Italian patient with EDSSPD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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>For discussion of the 1-bp deletion in the B3GALT6 gene (c.588delG) that was found in compound heterozygous state in patients with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>) by <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a>, see <a href="#0008">615291.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514722 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514722;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/rs397514722?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=rs397514722" 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=rs397514722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Italian patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>), <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a> identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.16C-T transition resulting in an arg6-to-trp (R6W) substitution, and a 9-bp deletion (c.415_423del) resulting in a truncated protein (Met139Ala141del). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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>For discussion of the 9-bp deletion in the B3GALT6 gene (c.415_423del) that was found in compound heterozygous state in a patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>) by <a href="#7" class="mim-tip-reference" title="Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others. <strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong> Am. J. Hum. Genet. 92: 927-934, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[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.2013.04.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664117">Nakajima et al. (2013)</a>, see <a href="#0010">615291.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" 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 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</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">rs397514723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514723;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=rs397514723" 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=rs397514723" 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=RCV000054401 OR RCV003225928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054401, RCV003225928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054401...</a>
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<p>In affected members of 2 unrelated Iranian families with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#6" class="mim-tip-reference" title="Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A. <strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong> Am. J. Hum. Genet. 92: 935-945, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664118[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.2013.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664118">Malfait et al. (2013)</a> identified a c.619G-C transversion in the B3GALT6 gene, resulting in an asp207-to-his (D207H) substitution at a highly conserved residue. In 1 family the mutation occurred in 2 sibs in homozygous state; in the other family it occurred in 2 sibs in compound heterozygous state with a 22-bp deletion in B3GALT6 (c.323_344del; <a href="#0014">615291.0014</a>), resulting in a frameshift (Ala108GlyfsTer163). Both mutations occurred within the predicted catalytic galactosyltransferase domain. The D207H substitution was not found in 106 control individuals or in the 1000 Genomes Project or NHLBI Exome Variant Server (ESP6500) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</strong>
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B3GALT6, GLY217SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397514724 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514724;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=rs397514724" 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=rs397514724" 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=RCV000054402" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054402" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054402</a>
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<p>In an Iranian patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; <a href="/entry/271640">271640</a>), <a href="#6" class="mim-tip-reference" title="Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A. <strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong> Am. J. Hum. Genet. 92: 935-945, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664118[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.2013.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664118">Malfait et al. (2013)</a> identified homozygosity for a 649G-A transition in the B3GALT6 gene, resulting in a gly216-to-ser (G217S) substitution at a highly conserved residue in the catalytic galactosyltransferase domain. The mutation was not found in 106 control individuals or in the 1000 Genomes Project or NHLBI Exome Variant Server (ESP65000) databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664118" 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>.0014 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</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">rs786200943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200943;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=rs786200943" 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=rs786200943" 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=RCV000054403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054403</a>
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<p>For discussion of the 22-bp deletion in the B3GALT6 gene (c.323_344del) that was found in compound heterozygous state in patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; <a href="/entry/271640">271640</a>) by <a href="#6" class="mim-tip-reference" title="Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A. <strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong> Am. J. Hum. Genet. 92: 935-945, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664118[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.2013.04.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23664118">Malfait et al. (2013)</a>, see <a href="#0012">615291.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664118" 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>.0015 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</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">rs1314046622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1314046622;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=rs1314046622" 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=rs1314046622" 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=RCV000766204 OR RCV001855715 OR RCV003222124" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000766204, RCV001855715, RCV003222124" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000766204...</a>
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<p>In a boy, born of consanguineous Iranian parents (family VII), with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; <a href="/entry/615349">615349</a>), <a href="#9" class="mim-tip-reference" title="Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., and 10 others. <strong>Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.</strong> Hum. Molec. Genet. 27: 3475-3487, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29931299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29931299</a>] [<a href="https://doi.org/10.1093/hmg/ddy234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29931299">Van Damme et al. (2018)</a> identified homozygosity for a c.545A-G transition (c.545A-G, NM_080605.3) in the B3GALT6 gene, resulting in a tyr182-to-cys (Y182C) substitution at a conserved residue in the galactosyltransferase domain. The unaffected parents were heterozygous for the mutation, which was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29931299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0016" class="mim-anchor"></a>
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<strong>.0016 AL-GAZALI SYNDROME</strong>
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B3GALT6, SER159TYR
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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> rs1360531002 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1360531002;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/rs1360531002?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=rs1360531002" 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=rs1360531002" 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=RCV001089597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001089597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001089597</a>
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<p>In an infant with Al-Gazali syndrome (ALGAZ; <a href="/entry/609465">609465</a>), <a href="#8" class="mim-tip-reference" title="Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., Schaefer, G. B. <strong>A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</strong> Semin. Pediat. Neurol. 21: 84-87, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25149931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25149931</a>] [<a href="https://doi.org/10.1016/j.spen.2014.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25149931">Sellars et al. (2014)</a> identified compound heterozygous missense mutations in the B3GALT6 gene: ser159-to-tyr (S159Y) and glu265-to-asp (E265D; <a href="#0017">615291.0017</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. <a href="#4" class="mim-tip-reference" title="Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L. <strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong> Clin. Genet. 93: 1148-1158, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29443383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29443383</a>] [<a href="https://doi.org/10.1111/cge.13236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29443383">Ben-Mahmoud et al. (2018)</a> stated that the nucleotide changes for these variants are c.476C-A (c.476C-A, NM080605.3) and c.795A-C, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29443383+25149931" 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">rs374677519 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374677519;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=rs374677519" 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=rs374677519" 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=RCV001040148 OR RCV001089598 OR RCV001269281 OR RCV003145265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001040148, RCV001089598, RCV001269281, RCV003145265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001040148...</a>
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<p>For discussion of the glu265-to-asp (E265D) mutation in the B3GALT6 gene that was found in compound heterozygous state in an infant with Al-Gazali syndrome (ALGAZ; <a href="/entry/609465">609465</a>) by <a href="#8" class="mim-tip-reference" title="Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., Schaefer, G. B. <strong>A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</strong> Semin. Pediat. Neurol. 21: 84-87, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25149931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25149931</a>] [<a href="https://doi.org/10.1016/j.spen.2014.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25149931">Sellars et al. (2014)</a>, see <a href="#0016">615291.0016</a>. <a href="#4" class="mim-tip-reference" title="Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L. <strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong> Clin. Genet. 93: 1148-1158, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29443383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29443383</a>] [<a href="https://doi.org/10.1111/cge.13236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29443383">Ben-Mahmoud et al. (2018)</a> stated that the nucleotide change for this variant is c.795A-C (c.795A-C, NM_080605.3). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29443383+25149931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs763080896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763080896;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/rs763080896?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=rs763080896" 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=rs763080896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 1 of the Palestinian sibs with Al-Gazali syndrome (ALGAZ; <a href="/entry/609465">609465</a>) reported by <a href="#1" class="mim-tip-reference" title="al-Gazali, L. I., Bakir, M., Sadaghatian, M. R., Nath, R., Haas, D. <strong>Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.</strong> Clin. Dysmorph. 8: 87-92, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319196</a>]" pmid="10319196">al-Gazali et al. (1999)</a>, <a href="#4" class="mim-tip-reference" title="Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L. <strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong> Clin. Genet. 93: 1148-1158, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29443383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29443383</a>] [<a href="https://doi.org/10.1111/cge.13236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29443383">Ben-Mahmoud et al. (2018)</a> identified homozygosity for a c.618C-G transversion (c.618C-G, NM_080605.3) in the B3GALT6 gene, resulting in a cys206-to-trp (C206W) substitution at a highly conserved residue in the galactosyltransferase domain. The parents were heterozygous for the mutation. The variant was not present in the Exome Sequencing Project database. Expression of the variant in both HeLa and HEK-293 cells showed that it localized normally in the Golgi compartment. Examination of the effect of the variant on decorin processing in HeLa cells indicated impaired formation of immature decorin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10319196+29443383" 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>.0019 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</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">rs1553151294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553151294;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=rs1553151294" 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=rs1553151294" 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=RCV000625553 OR RCV001090032 OR RCV001090033 OR RCV003133412" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000625553, RCV001090032, RCV001090033, RCV003133412" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000625553...</a>
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<p>From a cohort of 40 families referred for genetic analysis because of suspicion of an inherited connective tissue disorder based primarily on joint and skin manifestations, <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Al-Qattan, S. M., Faqeih, E., Alhashem, A., Alshammari, M., Alzahrani, F., Al-Dosari, M. S., Patel, N., Alsagheir, A., Binabbas, B., Alzaidan, H., Alsiddiky, A., and 12 others. <strong>Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.</strong> Hum. Genet. 135: 525-540, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27023906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27023906</a>] [<a href="https://doi.org/10.1007/s00439-016-1660-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27023906">Alazami et al. (2016)</a> identified affected members of 3 families with a homozygous c.556T-C transition (c.556T-C, NM_080605.3) in the B3GALT6 gene, resulting in a phe186-to-leu (F186L) substitution. The probands in families 6 and 7 (12DG0715 and 12DG1291, respectively) presented with severe joint laxity, blue sclera, multiple joint dislocation, and recurrent fractures with severe osteopenia reminiscent of osteogenesis imperfecta. The proband in family 8 (12DG2397) presented in infancy with hip dislocation, joint laxity, and arthrogryposis. <a href="#5" class="mim-tip-reference" title="Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others. <strong>Expanding the phenome and variome of skeletal dysplasia.</strong> Genet. Med. 20: 1609-1616, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>] [<a href="https://doi.org/10.1038/gim.2018.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29620724">Maddirevula et al. (2018)</a> identified another family (12DG1024) with a homozygous F186L mutation in the B3GALT6 gene. Based on a review of the clinical features of all of these patients, <a href="#5" class="mim-tip-reference" title="Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others. <strong>Expanding the phenome and variome of skeletal dysplasia.</strong> Genet. Med. 20: 1609-1616, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>] [<a href="https://doi.org/10.1038/gim.2018.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29620724">Maddirevula et al. (2018)</a> diagnosed the patient in family 12DG2397 with spondylodysplastic type 2 Ehlers-Danlos syndrome (EDSSPD2; <a href="/entry/615349">615349</a>), and the patients in the other 3 families with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; <a href="/entry/271640">271640</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27023906+29620724" 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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Clin. Dysmorph. 8: 87-92, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Alazami, A. M., Al-Qattan, S. M., Faqeih, E., Alhashem, A., Alshammari, M., Alzahrani, F., Al-Dosari, M. S., Patel, N., Alsagheir, A., Binabbas, B., Alzaidan, H., Alsiddiky, A., and 12 others.
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Hum. Genet. 135: 525-540, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27023906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27023906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27023906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Bai2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D.
|
|
<strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong>
|
|
J. Biol. Chem. 276: 48189-48195, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11551958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11551958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11551958" 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/10.1074/jbc.M107339200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
|
|
<a id="Ben-Mahmoud2018" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L.
|
|
<strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong>
|
|
Clin. Genet. 93: 1148-1158, 2018.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29443383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29443383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29443383" 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/cge.13236" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Maddirevula2018" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others.
|
|
<strong>Expanding the phenome and variome of skeletal dysplasia.</strong>
|
|
Genet. Med. 20: 1609-1616, 2018.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29620724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29620724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29620724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/gim.2018.50" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Malfait2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A.
|
|
<strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong>
|
|
Am. J. Hum. Genet. 92: 935-945, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664118[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664118" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.016" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
|
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<a id="Nakajima2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others.
|
|
<strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong>
|
|
Am. J. Hum. Genet. 92: 927-934, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23664117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23664117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23664117[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23664117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.04.003" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Sellars2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., Schaefer, G. B.
|
|
<strong>A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</strong>
|
|
Semin. Pediat. Neurol. 21: 84-87, 2014.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25149931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25149931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25149931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.spen.2014.04.007" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Van Damme2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., and 10 others.
|
|
<strong>Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.</strong>
|
|
Hum. Molec. Genet. 27: 3475-3487, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29931299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29931299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29931299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddy234" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Zhou1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, D., Dinter, A., Gallego, R. G., Kamerling, J. P., Vliegenthart, J. F. G., Berger, E. G., Hennet, T.
|
|
<strong>A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 406-411, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 97: 11673-11675, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9892646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9892646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9892646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9892646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.96.2.406" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 04/27/2020
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 03/29/2019<br>Nara Sobreira - updated : 8/1/2013<br>Matthew B. Gross - updated : 6/27/2013
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz : 6/26/2013
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/17/2021
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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|
carol : 12/29/2020<br>carol : 05/01/2020<br>carol : 04/27/2020<br>carol : 09/25/2019<br>carol : 04/02/2019<br>carol : 03/29/2019<br>carol : 12/21/2017<br>carol : 12/20/2017<br>carol : 08/04/2016<br>carol : 05/19/2015<br>carol : 4/6/2015<br>mcolton : 3/30/2015<br>carol : 8/2/2013<br>carol : 8/1/2013<br>mgross : 6/27/2013<br>joanna : 6/26/2013<br>mgross : 6/26/2013
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 615291
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
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|
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BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6
|
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|
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
UDP-GAL:BETA-GAL BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6<br />
|
|
GALACTOSYLTRANSFERASE II; GALTII<br />
|
|
BETA-3-GALT6
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: B3GALT6</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>
|
|
<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 1208342001, 1251499005, 1286833006;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 1p36.33
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:1,232,237-1,235,041 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
1p36.33
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Al-Gazali syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609465
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, spondylodysplastic type, 2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
615349
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
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<td>
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<span class="mim-font">
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|
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
271640
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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</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>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Glycosaminoglycan biosynthesis initiates with the formation of a linkage tetrasaccharide that serves as a primer, followed by sequential transfer of monosaccharide residues from the corresponding nucleotide sugars starting at the reducing end. B3GALNT6 (EC 2.4.1.134) forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate (Bai et al., 2001). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching an EST database for sequences similar to mouse beta-1,3-galactosyltransferases (see B3GALT1, 603093), followed by screening a human fetal brain cDNA library and a newborn mouse brain cDNA library, Bai et al. (2001) cloned human and mouse B3GALT6, which they designated GALTII. The deduced human and mouse proteins contain 329 and 325 amino acids, respectively. GALTII is a typical type II transmembrane protein, with a transmembrane domain near the N terminus and a C-terminal galactosyltransferase domain containing a conserved cysteine residue. Northern blot analysis detected variable expression of transcripts of about 1.6, 2.4, and 3.3 kb in all 16 human tissues examined. Fluorescence-tagged GALTII colocalized with alpha-mannosidase II (MAN2A1; 154582), a marker of the medial Golgi. Bai et al. (2001) noted that the sequence and expression pattern of B3GALT6 had erroneously been reported as that of B3GNT2 (605581) in a previous publication (Zhou et al., 1999) due to a clerical error. The correct B3GNT2 sequence and expression pattern were provided in an erratum. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bai et al. (2001) found that human GALTII expressed in insect cells showed strict requirement for UDP-Gal as a Gal donor. For a substrate, it reacted strongly with Gal-beta-1,4-xylosyl-beta-O-benzyl, which is found in the linkage region of glycosaminoglycans. It also used simple beta-galactosides and other glycans with terminal beta-linked Gal residues. Knockdown of GALTII in HeLa cells inhibited synthesis of both heparan sulfate and chondroitin sulfate. </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>Bai et al. (2001) determined that B3GALT6 is a single-exon gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Bai et al. (2001) mapped the B3GALT6 gene to chromosome 1p36.3. They mapped the mouse B3galt6 gene to a region of chromosome 4E2 that shares homology of synteny with human chromosome 1p36.3. </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><strong><em>Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures</em></strong></p><p>
|
|
By next-generation sequencing in 7 individuals, including 2 sibs, with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640) from 5 unrelated Japanese families and a Singapore/Japanese family, Nakajima et al. (2013) identified possible mutations in the B3GALT6 gene. By direct sequencing of this gene in these 7 patients and an additional patient with JEMDJL1 from a Vietnamese family, they identified compound heterozygous missense mutations in all but 1 in whom a second mutation was not found (615291.0001-615291.0006). One of the mutations (M1?; 615291.0001) was found in 5 of the 7 families. None of the mutations were found in 200 ethnically matched controls or in public databases, including the 1000 Genomes Project database. Immunocytochemical studies of mutant proteins showed subcellular mislocalization of all but 2 (D156N, 615291.0003 and C300S, 615291.0004). Galt-II activities of all mutant proteins were significantly decreased compared to wildtype, indicating loss of function. There were no significant differences in GALT-II activities between wildtype and a common B3GALT6 polymorphism (rs12085009). Biochemical studies using patient lymphoblastoid cells showed a decrease of heparan sulfate and a paradoxical increase of chondroitin sulfate and dermatan sulfate on the cell surface. </p><p>By homozygosity mapping and candidate gene sequence analysis in 3 unrelated Iranian families segregating SEMDJL1 with fractures, Malfait et al. (2013) identified homozygous or compound heterozygous mutations in the B3GALT6 gene (615291.0012-615291.0014), which segregated with the disorder in each family. Patient fibroblasts exhibited a large decrease in ability to prime glycosaminoglycan synthesis together with impaired glycanation of the small chondroitin/dermatan sulfate proteoglycan decorin, confirming B3GALT6 loss of function. Dermal electron microscopy showed abnormalities in collagen fibril organization. A strong reduction in heparan sulfate level was also observed, indicating that B3GALT6 deficiency alters synthesis of both main types of glycosaminoglycans. An in vitro wound healing assay revealed a significant delay in fibroblasts from 2 index individuals, pointing to a role for glycosaminoglycan defect in impaired wound repair in vivo. </p><p><strong><em>Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2</em></strong></p><p>
|
|
Because some of the patients with SEMDJL1 in whom they had identified mutations in the B3GALT6 gene had some overlapping features with a progeroid form of Ehlers-Danlos syndrome (EDSSPD2; 615349), Nakajima et al. (2013) performed Sanger sequencing of the B3GALT6 gene in 4 patients from 3 families who did not have a mutation in the B4GALT7 gene (604327). All 4 patients were found to be compound heterozygous for a frameshift and a missense mutation in the B3GALT6 gene (615291.0007-615291.0011). A missense mutation that was common in 2 EDSSPD2 families (S309T; 615291.0008) was found to have significantly decreased GalT-II activities compared to wildtype, indicating loss of function. None of the mutations were found in 200 ethnically matched controls or in public databases, including the 1000 Genomes Project database. </p><p>Using whole-exome, panel, and direct gene sequencing of 12 patients from 9 families with EDSSPD2, Van Damme et al. (2018) identified 8 compound heterozygous mutations and 1 homozygous (615291.0015) mutation in the B3GALT6 gene, including 11 missense variants, 2 frameshift variants, a deletion of 19 amino acids, and a start codon alteration. Most mutations were located in the luminal domain. In families in which parental DNA was available, mutations segregated as expected. Studies in fibroblasts showed that these mutations reduced the amount and activity of B3GALT6, which in turn reduced glycosaminoglycan synthesis and produced ultrastructural abnormalities in collagen fibril organization. </p><p><strong><em>Al-Gazali Syndrome</em></strong></p><p>
|
|
In an infant with Al-Gazali syndrome (ALGAZ; 609465), Sellars et al. (2014) identified compound heterozygous missense mutations in the B3GALT6 gene (S159Y, 615291.0016; E265D, 615291.0017). The mutations, which were found by exome sequencing, segregated with the disorder in the family. </p><p>In 1 of the Palestinian infants with Al-Gazali syndrome reported by al-Gazali et al. (1999), Ben-Mahmoud et al. (2018) identified homozygosity for a missense mutation in the B3GALT6 gene (C206W; 615291.0018). The parents were heterozygous for the mutation. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>19 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</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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|
|
B3GALT6, MET1?
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<br />
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|
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SNP: rs786200938,
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gnomAD: rs786200938,
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ClinVar: RCV000054390, RCV001560169, RCV001853073, RCV003944971
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</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected individuals from 4 families with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.1A-G transition resulting in a met1? substitution and another missense mutation. Four of the families were Japanese and 1 was Singapore/Japanese. In another affected Japanese patient, the mutation was found in heterozygous state. The Met1? mutation resulted in a mutant B3GALT6 protein with a molecular weight approximately 4 kD lower than the wildtype protein, suggesting that translation initiation at the second ATG of the coding sequence, at position c.124, would become the initiation codon, probably resulting in an N-terminal deletion of 41 amino acids (Met1_Ala41del), in the same open reading frame that contains the transmembrane domain. Immunofluorescence studies showed that the mutant protein mislocalized to the nucleus and cytoplasm, indicating that the protein was functionally null. The mutation was not detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </p>
|
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</span>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
B3GALT6, ARG232CYS
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<br />
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|
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SNP: rs397514717,
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gnomAD: rs397514717,
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ClinVar: RCV000054391, RCV001753471, RCV003764725
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected individuals from 3 Japanese families and 1 Vietnamese family with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640), Nakajima et al. (2013) identified compound heterozygosity for 2 missense mutations in the B3GALT6 gene, one of which was a c.694C-T transition resulting in an arg232-to-cys (R232C) substitution. The mutation was not detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </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>.0003 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</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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B3GALT6, ASP156ASN
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<br />
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|
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SNP: rs397514718,
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ClinVar: RCV000054392
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</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640), Nakajima et al. (2013) identified compound heterozygosity for 2 missense mutations in the B3GALT6 gene: a c.466G-A transition resulting in an asp156-to-asn (D156N) substitution, and a Met1? substitution (615291.0001). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </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>.0004 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</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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B3GALT6, CYS300SER
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|
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<br />
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|
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SNP: rs786200939,
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ClinVar: RCV000054393
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|
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</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.899G-C transversion resulting in a cys300-to-ser (C300S) substitution, and an R232C substitution (615291.0002). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </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>.0005 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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B3GALT6, SER65GLY
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<br />
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|
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SNP: rs397514719,
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gnomAD: rs397514719,
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ClinVar: RCV000054394
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640) from a Singapore/Japanese family, Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.193A-G transition resulting in a ser65-to-gly (S65G) substitution, and a met1? substitution (615291.0001). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </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 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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B3GALT6, PRO67LEU
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<br />
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SNP: rs397514720,
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ClinVar: RCV000054395, RCV001853074
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Vietnamese patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.200C-T transition resulting in a pro67-to-leu substitution, and an R232C substitution (615291.0002). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </p>
|
|
</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</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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B3GALT6, 1-BP DEL, 353A
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<br />
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SNP: rs750088530,
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gnomAD: rs750088530,
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ClinVar: RCV000054396, RCV002513707, RCV004589545
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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 an Italian patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a 1-bp deletion (c.353delA) resulting in a frameshift (Asp118AlafsTer160), and a ser309-to-thr (S309T; 615291.0008) substitution. Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>.0008 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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B3GALT6, SER309THR
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs397514721,
|
|
|
|
|
|
gnomAD: rs397514721,
|
|
|
|
|
|
ClinVar: RCV000054397, RCV003236774, RCV003764726
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
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|
<div>
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|
<span class="mim-text-font">
|
|
<p>In 2 affected members of an Italian/Canadian family with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a 925T-A transversion resulting in a ser309-to-thr (S309T) substitution, and a 1-bp deletion (c.588delG; 615291.0009) resulting in a frameshift (Arg197AlafsTer81). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </p><p>Nakajima et al. (2013) also detected this mutation in compound heterozygosity with a c.353delA mutation (615291.0007) in an Italian patient with EDSSPD2. </p>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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|
</div>
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</div>
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|
<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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B3GALT6, 1-BP DEL, 588G
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|
<br />
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SNP: rs533071750,
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|
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gnomAD: rs533071750,
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|
|
|
ClinVar: RCV000054398, RCV004719685
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the B3GALT6 gene (c.588delG) that was found in compound heterozygous state in patients with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349) by Nakajima et al. (2013), see 615291.0008. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, ARG6TRP
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|
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|
|
|
<br />
|
|
|
|
SNP: rs397514722,
|
|
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|
|
|
gnomAD: rs397514722,
|
|
|
|
|
|
ClinVar: RCV000054399, RCV002513708
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349), Nakajima et al. (2013) identified compound heterozygosity for 2 mutations in the B3GALT6 gene: a c.16C-T transition resulting in an arg6-to-trp (R6W) substitution, and a 9-bp deletion (c.415_423del) resulting in a truncated protein (Met139Ala141del). Neither mutation was detected in more than 200 ethnicity matched controls or in public databases, including the 1000 Genomes Project database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
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|
B3GALT6, 9-BP DEL, NT415
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs786200942,
|
|
|
|
|
|
|
|
ClinVar: RCV000054400, RCV004791251
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 9-bp deletion in the B3GALT6 gene (c.415_423del) that was found in compound heterozygous state in a patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349) by Nakajima et al. (2013), see 615291.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, ASP207HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514723,
|
|
|
|
|
|
|
|
ClinVar: RCV000054401, RCV003225928
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated Iranian families with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; 271640), Malfait et al. (2013) identified a c.619G-C transversion in the B3GALT6 gene, resulting in an asp207-to-his (D207H) substitution at a highly conserved residue. In 1 family the mutation occurred in 2 sibs in homozygous state; in the other family it occurred in 2 sibs in compound heterozygous state with a 22-bp deletion in B3GALT6 (c.323_344del; 615291.0014), resulting in a frameshift (Ala108GlyfsTer163). Both mutations occurred within the predicted catalytic galactosyltransferase domain. The D207H substitution was not found in 106 control individuals or in the 1000 Genomes Project or NHLBI Exome Variant Server (ESP6500) databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, GLY217SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514724,
|
|
|
|
|
|
|
|
ClinVar: RCV000054402
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Iranian patient with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; 271640), Malfait et al. (2013) identified homozygosity for a 649G-A transition in the B3GALT6 gene, resulting in a gly216-to-ser (G217S) substitution at a highly conserved residue in the catalytic galactosyltransferase domain. The mutation was not found in 106 control individuals or in the 1000 Genomes Project or NHLBI Exome Variant Server (ESP65000) databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, 22-BP DEL, NT323
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200943,
|
|
|
|
|
|
|
|
ClinVar: RCV000054403
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 22-bp deletion in the B3GALT6 gene (c.323_344del) that was found in compound heterozygous state in patients with spondyloepimetaphyseal dysplasia with joint laxity type 1 with fractures (SEMDJL1; 271640) by Malfait et al. (2013), see 615291.0012. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, TYR182CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1314046622,
|
|
|
|
|
|
|
|
ClinVar: RCV000766204, RCV001855715, RCV003222124
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy, born of consanguineous Iranian parents (family VII), with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349), Van Damme et al. (2018) identified homozygosity for a c.545A-G transition (c.545A-G, NM_080605.3) in the B3GALT6 gene, resulting in a tyr182-to-cys (Y182C) substitution at a conserved residue in the galactosyltransferase domain. The unaffected parents were heterozygous for the mutation, which was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 AL-GAZALI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, SER159TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1360531002,
|
|
|
|
|
|
gnomAD: rs1360531002,
|
|
|
|
|
|
ClinVar: RCV001089597
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with Al-Gazali syndrome (ALGAZ; 609465), Sellars et al. (2014) identified compound heterozygous missense mutations in the B3GALT6 gene: ser159-to-tyr (S159Y) and glu265-to-asp (E265D; 615291.0017). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Ben-Mahmoud et al. (2018) stated that the nucleotide changes for these variants are c.476C-A (c.476C-A, NM080605.3) and c.795A-C, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 AL-GAZALI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, GLU265ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs374677519,
|
|
|
|
|
|
|
|
ClinVar: RCV001040148, RCV001089598, RCV001269281, RCV003145265
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the glu265-to-asp (E265D) mutation in the B3GALT6 gene that was found in compound heterozygous state in an infant with Al-Gazali syndrome (ALGAZ; 609465) by Sellars et al. (2014), see 615291.0016. Ben-Mahmoud et al. (2018) stated that the nucleotide change for this variant is c.795A-C (c.795A-C, NM_080605.3). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 AL-GAZALI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, CYS206TRP ({dbSNP rs763080896})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs763080896,
|
|
|
|
|
|
gnomAD: rs763080896,
|
|
|
|
|
|
ClinVar: RCV001089599
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of the Palestinian sibs with Al-Gazali syndrome (ALGAZ; 609465) reported by al-Gazali et al. (1999), Ben-Mahmoud et al. (2018) identified homozygosity for a c.618C-G transversion (c.618C-G, NM_080605.3) in the B3GALT6 gene, resulting in a cys206-to-trp (C206W) substitution at a highly conserved residue in the galactosyltransferase domain. The parents were heterozygous for the mutation. The variant was not present in the Exome Sequencing Project database. Expression of the variant in both HeLa and HEK-293 cells showed that it localized normally in the Golgi compartment. Examination of the effect of the variant on decorin processing in HeLa cells indicated impaired formation of immature decorin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
B3GALT6, PHE186LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553151294,
|
|
|
|
|
|
|
|
ClinVar: RCV000625553, RCV001090032, RCV001090033, RCV003133412
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>From a cohort of 40 families referred for genetic analysis because of suspicion of an inherited connective tissue disorder based primarily on joint and skin manifestations, Alazami et al. (2016) identified affected members of 3 families with a homozygous c.556T-C transition (c.556T-C, NM_080605.3) in the B3GALT6 gene, resulting in a phe186-to-leu (F186L) substitution. The probands in families 6 and 7 (12DG0715 and 12DG1291, respectively) presented with severe joint laxity, blue sclera, multiple joint dislocation, and recurrent fractures with severe osteopenia reminiscent of osteogenesis imperfecta. The proband in family 8 (12DG2397) presented in infancy with hip dislocation, joint laxity, and arthrogryposis. Maddirevula et al. (2018) identified another family (12DG1024) with a homozygous F186L mutation in the B3GALT6 gene. Based on a review of the clinical features of all of these patients, Maddirevula et al. (2018) diagnosed the patient in family 12DG2397 with spondylodysplastic type 2 Ehlers-Danlos syndrome (EDSSPD2; 615349), and the patients in the other 3 families with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; 271640). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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al-Gazali, L. I., Bakir, M., Sadaghatian, M. R., Nath, R., Haas, D.
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<strong>Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.</strong>
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<strong>Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.</strong>
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Bai, X., Zhou, D., Brown, J. R., Crawford, B. E., Hennet, T., Esko, J. D.
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<strong>Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta-1,3-galactosyltransferase family (beta-3-GalT6).</strong>
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Ben-Mahmoud, A., Ben-Salem, S., Al-Sorkhy, M., John, A., Ali, B. R., Al-Gazali, L.
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<strong>A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta-3-GalT6-pathy mutations.</strong>
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Clin. Genet. 93: 1148-1158, 2018.
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Maddirevula, S., Alsahli, S., Alhabeeb, L., Patel, N., Alzahrani, F., Shamseldin, H. E., Anazi, S., Ewida, N., Alsaif, H. S., Mohamed, J. Y., Alazami, A. M., Ibrahim, N., and 44 others.
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<strong>Expanding the phenome and variome of skeletal dysplasia.</strong>
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Genet. Med. 20: 1609-1616, 2018.
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[Full Text: https://doi.org/10.1038/gim.2018.50]
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Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., Bozorgmehr, B., Kariminejad, M. H., Ebrahimiadib, N., Hausser, I., Huysseune, A., Fournel-Gigleux, S., De Paepe, A.
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<strong>Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.</strong>
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Am. J. Hum. Genet. 92: 935-945, 2013.
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Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., Kosaki, R., Horikawa, R., and 19 others.
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<strong>Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.</strong>
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Am. J. Hum. Genet. 92: 927-934, 2013.
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[PubMed: 23664117]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.003]
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Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., Schaefer, G. B.
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<strong>A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.</strong>
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Van Damme, T., Pang, X., Guillemyn, B., Gulberti, S., Syx, D., De Rycke, R., Kaye, O., de Die-Smulders, C. E. M., Pfundt, R., Kariminejad, A., Nampoothiri, S., and 10 others.
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<strong>Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.</strong>
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Hum. Molec. Genet. 27: 3475-3487, 2018.
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[PubMed: 29931299]
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Zhou, D., Dinter, A., Gallego, R. G., Kamerling, J. P., Vliegenthart, J. F. G., Berger, E. G., Hennet, T.
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<strong>A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.</strong>
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[PubMed: 9892646]
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[Full Text: https://doi.org/10.1073/pnas.96.2.406]
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Carol A. Bocchini - updated : 04/27/2020<br>Sonja A. Rasmussen - updated : 03/29/2019<br>Nara Sobreira - updated : 8/1/2013<br>Matthew B. Gross - updated : 6/27/2013
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