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<title>
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Entry
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- *605951 - DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3
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- OMIM
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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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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*605951</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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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>
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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>
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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="#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/605951">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=ENSG00000179085;t=ENST00000368400" 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=54344" 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=605951" 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=ENSG00000179085;t=ENST00000368400" 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_018973,NM_153741,XM_017001498" 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_153741" 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=605951" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=16179&isoform_id=16179_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/DPM3" 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/8100054,13507169,13507171,19424120,24430135,34783282,40850894,74355296,74355298,74355449,119573510,119573511,125987822,126634846,194374373,332367558,1034559264,2462510224" 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/Q9P2X0" 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=54344" 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=ENSG00000179085;t=ENST00000368400" 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=DPM3" 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=DPM3" 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+54344" 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/DPM3" 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:54344" 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/54344" 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=ENST00000368400.5&hgg_start=155139891&hgg_end=155140531&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:3007" 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:3007" 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=605951[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=605951[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000179085" 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=DPM3" 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=DPM3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/DPM3" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DPM3&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/PA27465" 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:3007" 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/FBgn0053977.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:1915813" 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/DPM3#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:1915813" 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/54344/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=54344" 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=WBGene00009219;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-040426-1782" 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:54344" 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=DPM3&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> 725044000<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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605951
|
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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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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3
|
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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>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 3<br />
|
|
DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 3
|
|
</span>
|
|
</h4>
|
|
</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=DPM3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DPM3</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/1/1211?start=-3&limit=10&highlight=1211">1q22</a>
|
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:155139891-155140531&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'})">1:155,139,891-155,140,531</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<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=618992,612937" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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1q22
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?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
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<a href="/entry/618992"> 618992 </a>
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Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
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<a href="/entry/612937"> 612937 </a>
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PheneGene Graphics <span class="caret"></span>
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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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<p>Dolichol-phosphate-mannose is a mannosyl donor important for the biosynthesis of various glycoconjugates (see DPM1, <a href="/entry/603503">603503</a>).</p>
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<p>Using tagged DPM1 protein, <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> purified a protein complex with human DPM synthase activity. The complex contained DPM1, DPM2 (<a href="/entry/603564">603564</a>), and a novel protein, DPM3. Using peptide sequencing and database searches, the authors identified a cDNA encoding DPM3. The predicted 92-amino acid DPM3 protein contains 2 putative N-terminal transmembrane domains and a hydrophilic C-terminal portion. It shares 25%, 31%, and 97% amino acid identity with the C. elegans, S. pombe, and rat Dpm3 proteins, respectively. By fractionation of transfected cells, <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> determined that DPM3 is a membrane protein in the endoplasmic reticulum (ER). Using DPM2 mutant cells, they demonstrated that the ER localization of DPM3 is independent of DPM2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> identified an STS within the DPM3 gene that maps to 1q12-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 10/9/2018."None>Gross (2018)</a> mapped the DPM3 gene to chromosome 1q22 based on an alignment of the DPM3 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF312922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF312922</a>) with the genomic sequence (GRCh38).</p>
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<p>Using coprecipitation experiments with full-length and truncated DPM3, <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> found that DPM2 associates with the N-terminal region of DPM3 and that DPM1 associates with the C-terminal domain of DPM3. DPM1 expression increased following transient overexpression of DPM3 in the absence of DPM2, suggesting that DPM3 directly stabilizes DPM1. Using cotransfection experiments, <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> showed that the stability of DPM3 is dependent upon DPM2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835346" 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>Mutation in the DPM3 gene can cause 2 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a congenital form with impaired intellectual development (type B15; MDDGB15; <a href="/entry/618992">618992</a>), and a limb-girdle form (type C15; MDDGC15; <a href="/entry/612937">612937</a>).</p><p>In a Greek female patient with MDDGC15, <a href="#3" class="mim-tip-reference" title="Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others. <strong>Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.</strong> Am. J. Hum. Genet. 85: 76-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576565[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.2009.06.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576565">Lefeber et al. (2009)</a> identified a homozygous mutation in the DPM3 gene (L85S; <a href="#0001">605951.0001</a>). The patient had mild myopathic features and cardiomyopathy. Biochemical studies showed defective O-mannosylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a woman with MDDGC15, <a href="#6" class="mim-tip-reference" title="Van den Bergh, P. Y. K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R. A., Lefeber, D. J., Xu, L., Lek, M., MacArthur, D. G., Johnson, K., Phillips, L., Topf, A., Straub, V. <strong>A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.</strong> Neuromusc. Disord. 27: 1043-1046, 2017. Note: Erratum: Neuromusc. Disord. 28: 101 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28803818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28803818</a>] [<a href="https://doi.org/10.1016/j.nmd.2017.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28803818">Van den Bergh et al. (2017)</a> identified a homozygous missense mutation in the DPM3 gene (L44P; <a href="#0002">605951.0002</a>). The mutation, which was found by exome sequencing, segregated with the disorder in the family. DPM synthase activity in patient fibroblasts was reduced by 50% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28803818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated male patients with MDDGC15, <a href="#5" class="mim-tip-reference" title="Svahn, J., Laforet, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Seraphin, C., Bruneel, A., Dupre, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T. <strong>Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.</strong> Neuromusc. Disord. 29: 497-502, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31266720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31266720</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31266720">Svahn et al. (2019)</a> identified compound heterozygous mutations in the DPM3 gene: the previously identified L44P mutation, which they designated L14P, and a deletion affecting the DPM3 gene. The deletion was predicted to contain at least the region between the first intron and the 3-prime UTR. However, the breakpoints were not exactly defined and it was possible that other genes besides DPM3 were affected. The mutation and deletion were found by next-generation sequencing of targeted genes and confirmed by Sanger sequencing or RT-PCR analysis. The L14P mutation was found in the unaffected father of patient 1; DNA from the mother of patient 1 and the parents of patient 2 were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31266720" 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 an 8-year-old Chinese girl with MCCGB15, <a href="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. <strong>Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter)</strong> Clin. Genet. 96: 590-591, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31469168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31469168</a>] [<a href="https://doi.org/10.1111/cge.13634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31469168">Fu et al. (2019)</a> identified compound heterozygous mutations in the DPM3 gene (P42A, <a href="#0003">605951.0003</a> and L85X, <a href="#0004">605951.0004</a>). The mutations, which were found by next-generation sequencing of a targeted gene panel, segregated with the disorder in the family. Immunoblotting of patient muscle showed significantly decreased levels of alpha-dystroglycan. N-glycosylation studies and functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31469168" 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>5 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605951[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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15</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> rs121908155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908155;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/rs121908155?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=rs121908155" 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=rs121908155" 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 Greek woman with limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15; <a href="/entry/612937">612937</a>), <a href="#3" class="mim-tip-reference" title="Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others. <strong>Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.</strong> Am. J. Hum. Genet. 85: 76-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576565[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.2009.06.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576565">Lefeber et al. (2009)</a> identified a homozygous c.254T-C transition in the DPM3 gene, resulting in a leu85-to-ser (L85S) substitution at a highly conserved residue in the coiled-coil domain. In vitro studies showed that the mutant protein had no functional enzyme activity and had reduced DPM1 (<a href="/entry/603503">603503</a>)-binding capacity. The authors noted that 4 biosynthetic pathways depend on DPM activity, including O-mannosylation of alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>), and postulated that the isolated phenotype of muscular dystrophy in this patient most likely resulted from deficient O-mannosylation of DAG1. These findings linked the congenital disorders of glycosylation to the dystroglycanopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a woman with adult-onset limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15; <a href="/entry/612937">612937</a>), <a href="#6" class="mim-tip-reference" title="Van den Bergh, P. Y. K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R. A., Lefeber, D. J., Xu, L., Lek, M., MacArthur, D. G., Johnson, K., Phillips, L., Topf, A., Straub, V. <strong>A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.</strong> Neuromusc. Disord. 27: 1043-1046, 2017. Note: Erratum: Neuromusc. Disord. 28: 101 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28803818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28803818</a>] [<a href="https://doi.org/10.1016/j.nmd.2017.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28803818">Van den Bergh et al. (2017)</a> identified a homozygous c.131T-C transition in the DPM3 gene, resulting in a leu44-to-pro (L44P) substitution at a highly conserved residue. The mutation, which was found by exome sequencing, segregated with the disorder in the family. It was found at a low frequency in heterozygous state (0.00084) in the control population. DPM synthase activity in patient fibroblasts was reduced by 50% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28803818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated male patients with MDDGC15, <a href="#5" class="mim-tip-reference" title="Svahn, J., Laforet, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Seraphin, C., Bruneel, A., Dupre, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T. <strong>Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.</strong> Neuromusc. Disord. 29: 497-502, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31266720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31266720</a>] [<a href="https://doi.org/10.1016/j.nmd.2019.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31266720">Svahn et al. (2019)</a> identified compound heterozygous mutations in the DPM3 gene: a c.41T-C transition in exon 2, resulting in a leu14-to-pro (L14P) substitution, and a deletion affecting the DPM3 gene. L14P is the same as the L44P mutation described by <a href="#6" class="mim-tip-reference" title="Van den Bergh, P. Y. K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R. A., Lefeber, D. J., Xu, L., Lek, M., MacArthur, D. G., Johnson, K., Phillips, L., Topf, A., Straub, V. <strong>A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.</strong> Neuromusc. Disord. 27: 1043-1046, 2017. Note: Erratum: Neuromusc. Disord. 28: 101 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28803818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28803818</a>] [<a href="https://doi.org/10.1016/j.nmd.2017.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28803818">Van den Bergh et al. (2017)</a>. The deletion was predicted to contain at least the region between the first intron and the 3-prime UTR. However, the breakpoints were not exactly defined and it was possible that other genes besides DPM3 were affected. The mutation and deletion were found by next-generation sequencing of targeted genes and confirmed by Sanger sequencing or RT-PCR analysis. The L14P mutation was found in the unaffected father of patient 1; DNA from the mother of patient 1 and the parents of patient 2 were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31266720+28803818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (1 patient)</strong>
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<p>In an 8-year-old Chinese girl with congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development type B15 (MDDGB15; <a href="/entry/618992">618992</a>), <a href="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. <strong>Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter)</strong> Clin. Genet. 96: 590-591, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31469168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31469168</a>] [<a href="https://doi.org/10.1111/cge.13634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31469168">Fu et al. (2019)</a> identified compound heterozygous mutations in the DPM3 gene: a c.124C-G transversion (c.124C-G, NM_153471), resulting in a pro42-to-ala (P42A) substitution, and a c.254T-A transversion, resulting in a leu85-to-ter (L85X; <a href="#0004">605951.0004</a>) substitution. The mutations, which were found by next-generation sequencing of a targeted gene panel, segregated with the disorder in the family. Immunoblotting of patient muscle showed significantly decreased levels of alpha-dystroglycan. N-glycosylation studies and functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31469168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (1 patient)</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> rs121908155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908155;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/rs121908155?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=rs121908155" 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=rs121908155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000855545 OR RCV001254823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000855545, RCV001254823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000855545...</a>
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<p>For discussion of the c.254T-A transversion (c.254T-A, NM_153471) in the DPM3 gene, resulting in a leu85-to-ter (L85X) substitution, that was found in compound heterozygous state in a patient with congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development type B15 (MDDGB15; <a href="/entry/618992">618992</a>) by <a href="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. <strong>Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter)</strong> Clin. Genet. 96: 590-591, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31469168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31469168</a>] [<a href="https://doi.org/10.1111/cge.13634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31469168">Fu et al. (2019)</a>, see <a href="#0003">605951.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31469168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0005 MOVED TO <a href="/entry/605951#0002">605951.0002</a></strong>
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Fu2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J.
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<strong>Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter)</strong>
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Clin. Genet. 96: 590-591, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31469168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31469168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31469168" 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.13634" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Gross2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/9/2018.
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<a id="3" class="mim-anchor"></a>
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<a id="Lefeber2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others.
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<strong>Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.</strong>
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Am. J. Hum. Genet. 85: 76-86, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576565[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=19576565" 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.2009.06.006" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Maeda2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
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<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
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EMBO J. 19: 2475-2482, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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=10835346" 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/emboj/19.11.2475" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Svahn2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Svahn, J., Laforet, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Seraphin, C., Bruneel, A., Dupre, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T.
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<strong>Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.</strong>
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Neuromusc. Disord. 29: 497-502, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31266720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31266720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31266720" 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.nmd.2019.05.004" target="_blank">Full Text</a>]
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<a id="Van den Bergh2017" class="mim-anchor"></a>
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Van den Bergh, P. Y. K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R. A., Lefeber, D. J., Xu, L., Lek, M., MacArthur, D. G., Johnson, K., Phillips, L., Topf, A., Straub, V.
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<strong>A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.</strong>
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Neuromusc. Disord. 27: 1043-1046, 2017. Note: Erratum: Neuromusc. Disord. 28: 101 only, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28803818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28803818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28803818" 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.nmd.2017.07.006" target="_blank">Full Text</a>]
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 08/20/2020
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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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Matthew B. Gross - updated : 10/09/2018<br>Cassandra L. Kniffin - updated : 10/01/2018<br>Cassandra L. Kniffin - updated : 7/28/2009
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<span class="mim-text-font">
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Dawn Watkins-Chow : 5/21/2001
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 09/08/2022
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<span class="mim-text-font">
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carol : 05/25/2021<br>carol : 05/24/2021<br>carol : 08/26/2020<br>carol : 08/25/2020<br>ckniffin : 08/20/2020<br>mgross : 10/09/2018<br>carol : 10/09/2018<br>carol : 10/08/2018<br>carol : 10/08/2018<br>ckniffin : 10/01/2018<br>carol : 11/11/2010<br>wwang : 8/11/2009<br>ckniffin : 7/28/2009<br>carol : 7/22/2004<br>mgross : 5/21/2001
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<span class="mim-font">
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<strong>*</strong> 605951
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<div>
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<h3>
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<span class="mim-font">
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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 3<br />
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DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 3
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DPM3</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 725044000;
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<strong>
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Cytogenetic location: 1q22
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:155,139,891-155,140,531 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1q22
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</td>
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<td>
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<span class="mim-font">
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?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
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</span>
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</td>
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<td>
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<span class="mim-font">
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618992
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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">
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3
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</span>
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</td>
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</tr>
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<tr>
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|
<td>
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|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
612937
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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>
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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>Dolichol-phosphate-mannose is a mannosyl donor important for the biosynthesis of various glycoconjugates (see DPM1, 603503).</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>Using tagged DPM1 protein, Maeda et al. (2000) purified a protein complex with human DPM synthase activity. The complex contained DPM1, DPM2 (603564), and a novel protein, DPM3. Using peptide sequencing and database searches, the authors identified a cDNA encoding DPM3. The predicted 92-amino acid DPM3 protein contains 2 putative N-terminal transmembrane domains and a hydrophilic C-terminal portion. It shares 25%, 31%, and 97% amino acid identity with the C. elegans, S. pombe, and rat Dpm3 proteins, respectively. By fractionation of transfected cells, Maeda et al. (2000) determined that DPM3 is a membrane protein in the endoplasmic reticulum (ER). Using DPM2 mutant cells, they demonstrated that the ER localization of DPM3 is independent of DPM2. </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">
|
|
<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">
|
|
<p>Maeda et al. (2000) identified an STS within the DPM3 gene that maps to 1q12-q21. </p><p>Gross (2018) mapped the DPM3 gene to chromosome 1q22 based on an alignment of the DPM3 sequence (GenBank AF312922) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Using coprecipitation experiments with full-length and truncated DPM3, Maeda et al. (2000) found that DPM2 associates with the N-terminal region of DPM3 and that DPM1 associates with the C-terminal domain of DPM3. DPM1 expression increased following transient overexpression of DPM3 in the absence of DPM2, suggesting that DPM3 directly stabilizes DPM1. Using cotransfection experiments, Maeda et al. (2000) showed that the stability of DPM3 is dependent upon DPM2. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Mutation in the DPM3 gene can cause 2 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a congenital form with impaired intellectual development (type B15; MDDGB15; 618992), and a limb-girdle form (type C15; MDDGC15; 612937).</p><p>In a Greek female patient with MDDGC15, Lefeber et al. (2009) identified a homozygous mutation in the DPM3 gene (L85S; 605951.0001). The patient had mild myopathic features and cardiomyopathy. Biochemical studies showed defective O-mannosylation. </p><p>In a woman with MDDGC15, Van den Bergh et al. (2017) identified a homozygous missense mutation in the DPM3 gene (L44P; 605951.0002). The mutation, which was found by exome sequencing, segregated with the disorder in the family. DPM synthase activity in patient fibroblasts was reduced by 50% compared to controls. </p><p>In 2 unrelated male patients with MDDGC15, Svahn et al. (2019) identified compound heterozygous mutations in the DPM3 gene: the previously identified L44P mutation, which they designated L14P, and a deletion affecting the DPM3 gene. The deletion was predicted to contain at least the region between the first intron and the 3-prime UTR. However, the breakpoints were not exactly defined and it was possible that other genes besides DPM3 were affected. The mutation and deletion were found by next-generation sequencing of targeted genes and confirmed by Sanger sequencing or RT-PCR analysis. The L14P mutation was found in the unaffected father of patient 1; DNA from the mother of patient 1 and the parents of patient 2 were not available for study. </p><p>In an 8-year-old Chinese girl with MCCGB15, Fu et al. (2019) identified compound heterozygous mutations in the DPM3 gene (P42A, 605951.0003 and L85X, 605951.0004). The mutations, which were found by next-generation sequencing of a targeted gene panel, segregated with the disorder in the family. Immunoblotting of patient muscle showed significantly decreased levels of alpha-dystroglycan. N-glycosylation studies and functional studies of the variants were not performed. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM3, LEU85SER
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121908155,
|
|
|
|
|
|
gnomAD: rs121908155,
|
|
|
|
|
|
ClinVar: RCV000004967
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Greek woman with limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15; 612937), Lefeber et al. (2009) identified a homozygous c.254T-C transition in the DPM3 gene, resulting in a leu85-to-ser (L85S) substitution at a highly conserved residue in the coiled-coil domain. In vitro studies showed that the mutant protein had no functional enzyme activity and had reduced DPM1 (603503)-binding capacity. The authors noted that 4 biosynthetic pathways depend on DPM activity, including O-mannosylation of alpha-dystroglycan (DAG1; 128239), and postulated that the isolated phenotype of muscular dystrophy in this patient most likely resulted from deficient O-mannosylation of DAG1. These findings linked the congenital disorders of glycosylation to the dystroglycanopathies. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM3, LEU44PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs778481307,
|
|
|
|
|
|
gnomAD: rs778481307,
|
|
|
|
|
|
ClinVar: RCV000709623
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman with adult-onset limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15; 612937), Van den Bergh et al. (2017) identified a homozygous c.131T-C transition in the DPM3 gene, resulting in a leu44-to-pro (L44P) substitution at a highly conserved residue. The mutation, which was found by exome sequencing, segregated with the disorder in the family. It was found at a low frequency in heterozygous state (0.00084) in the control population. DPM synthase activity in patient fibroblasts was reduced by 50% compared to controls. </p><p>In 2 unrelated male patients with MDDGC15, Svahn et al. (2019) identified compound heterozygous mutations in the DPM3 gene: a c.41T-C transition in exon 2, resulting in a leu14-to-pro (L14P) substitution, and a deletion affecting the DPM3 gene. L14P is the same as the L44P mutation described by Van den Bergh et al. (2017). The deletion was predicted to contain at least the region between the first intron and the 3-prime UTR. However, the breakpoints were not exactly defined and it was possible that other genes besides DPM3 were affected. The mutation and deletion were found by next-generation sequencing of targeted genes and confirmed by Sanger sequencing or RT-PCR analysis. The L14P mutation was found in the unaffected father of patient 1; DNA from the mother of patient 1 and the parents of patient 2 were not available for study. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (1 patient)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM3, PRO42ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs745692004,
|
|
|
|
|
|
gnomAD: rs745692004,
|
|
|
|
|
|
ClinVar: RCV000855549, RCV001254824
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old Chinese girl with congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development type B15 (MDDGB15; 618992), Fu et al. (2019) identified compound heterozygous mutations in the DPM3 gene: a c.124C-G transversion (c.124C-G, NM_153471), resulting in a pro42-to-ala (P42A) substitution, and a c.254T-A transversion, resulting in a leu85-to-ter (L85X; 605951.0004) substitution. The mutations, which were found by next-generation sequencing of a targeted gene panel, segregated with the disorder in the family. Immunoblotting of patient muscle showed significantly decreased levels of alpha-dystroglycan. N-glycosylation studies and functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (1 patient)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPM3, LEU85TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908155,
|
|
|
|
|
|
gnomAD: rs121908155,
|
|
|
|
|
|
ClinVar: RCV000855545, RCV001254823
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.254T-A transversion (c.254T-A, NM_153471) in the DPM3 gene, resulting in a leu85-to-ter (L85X) substitution, that was found in compound heterozygous state in a patient with congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development type B15 (MDDGB15; 618992) by Fu et al. (2019), see 605951.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0005 MOVED TO 605951.0002</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J.
|
|
<strong>Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter)</strong>
|
|
Clin. Genet. 96: 590-591, 2019.
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|
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|
|
[PubMed: 31469168]
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|
|
[Full Text: https://doi.org/10.1111/cge.13634]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/9/2018.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others.
|
|
<strong>Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.</strong>
|
|
Am. J. Hum. Genet. 85: 76-86, 2009.
|
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|
|
|
[PubMed: 19576565]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.06.006]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
|
|
<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
|
|
EMBO J. 19: 2475-2482, 2000.
|
|
|
|
|
|
[PubMed: 10835346]
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|
|
[Full Text: https://doi.org/10.1093/emboj/19.11.2475]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Svahn, J., Laforet, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Seraphin, C., Bruneel, A., Dupre, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T.
|
|
<strong>Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.</strong>
|
|
Neuromusc. Disord. 29: 497-502, 2019.
|
|
|
|
|
|
[PubMed: 31266720]
|
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|
|
[Full Text: https://doi.org/10.1016/j.nmd.2019.05.004]
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van den Bergh, P. Y. K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R. A., Lefeber, D. J., Xu, L., Lek, M., MacArthur, D. G., Johnson, K., Phillips, L., Topf, A., Straub, V.
|
|
<strong>A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.</strong>
|
|
Neuromusc. Disord. 27: 1043-1046, 2017. Note: Erratum: Neuromusc. Disord. 28: 101 only, 2018.
|
|
|
|
|
|
[PubMed: 28803818]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.nmd.2017.07.006]
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|
|
</p>
|
|
</li>
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|
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</ol>
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 08/20/2020<br>Matthew B. Gross - updated : 10/09/2018<br>Cassandra L. Kniffin - updated : 10/01/2018<br>Cassandra L. Kniffin - updated : 7/28/2009
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
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