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<title>
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Entry
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- *608103 - ALG8 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG8
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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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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608103</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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 role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608103">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=ENSG00000159063;t=ENST00000299626" 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=79053" 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=608103" 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=ENSG00000159063;t=ENST00000299626" 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_001007027,NM_001425219,NM_001425220,NM_001425221,NM_001425222,NM_001425223,NM_001425224,NM_001425225,NM_001425226,NM_001425227,NM_001425228,NM_001425229,NM_001425230,NM_001425231,NM_001425232,NM_001425233,NM_001425234,NM_001425235,NM_001425236,NM_001425237,NM_001425238,NM_001425239,NM_001425240,NM_001425241,NM_001425242,NM_001425243,NM_024079,NR_189148,NR_189149,XM_005274247,XM_047427578,XR_001747956" 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_024079" 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=608103" 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=10480&isoform_id=10480_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/ALG8" 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/2996578,12654595,56121818,57165415,119595454,119595455,119595456,119595457,143811361,193786757,444733027,530397293,957951512,957951515,2217284608,2462527520,2462527522,2615760823,2615760826,2615760990,2615761131,2615761166,2615761195,2615761240,2615761244,2615761266,2615761275,2615761278,2615761300,2615761310,2615761317,2615761338,2615761363,2615761382,2615761414,2615761490,2615761514,2615761525,2615761913,2615762221,2615762239,2615762252" 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/Q9BVK2" 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 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=79053" 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=ENSG00000159063;t=ENST00000299626" 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=ALG8" 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=ALG8" 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+79053" 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/ALG8" 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:79053" 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/79053" 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=chr11&hgg_gene=ENST00000299626.10&hgg_start=78100946&hgg_end=78139626&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/genes/HGNC:23161" 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=608103[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=608103[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ALG8/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000159063" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ALG8" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ALG8" 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=ALG8" 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.euroglycanet.org/" 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=ALG8&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/PA134942124" 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:23161" 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/FBgn0029906.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:2141959" 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/ALG8#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:2141959" 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/79053/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=79053" 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=WBGene00007464;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-030131-5812" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:608103" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:79053" 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=ALG8&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> 720977000<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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608103
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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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ALG8 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG8
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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ALG8, S. CEREVISIAE, HOMOLOG OF<br />
|
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DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALG8" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG8</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/788?start=-3&limit=10&highlight=788">11q14.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:78100946-78139626&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'})">11:78,100,946-78,139,626</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=608104,617874" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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</a>
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</span>
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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<a href="/geneMap/11/788?start=-3&limit=10&highlight=788">
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11q14.1
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</a>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Ih
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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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<a href="/entry/608104"> 608104 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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Polycystic liver disease 3 with or without kidney cysts
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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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<a href="/entry/617874"> 617874 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/608103" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608103" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The alpha-3-glucosyltransferase ALG8 adds the second glucose to the lipid-linked oligosaccharide precursor used in the N-glycosylation of proteins.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By searching an EST database for human homologs of yeast genes, <a href="#6" class="mim-tip-reference" title="Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G. <strong>Characterization of 16 novel human genes showing high similarity to yeast sequences.</strong> Yeast 18: 69-80, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11124703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11124703</a>] [<a href="https://doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11124703">Stanchi et al. (2001)</a> identified ALG8. They obtained the full-length cDNA and determined that the ALG8 protein contains 532 amino acids. It shares 38% amino acid identity with yeast ALG8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11124703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By database analysis, <a href="#4" class="mim-tip-reference" title="Oriol, R., Martinez-Duncker, I., Chantret, I., Mollicone, R., Codogno, P. <strong>Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.</strong> Molec. Biol. Evol. 19: 1451-1463, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200473</a>] [<a href="https://doi.org/10.1093/oxfordjournals.molbev.a004208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200473">Oriol et al. (2002)</a> identified ALG8. They determined that the 526-amino acid protein has 12 transmembrane domains and an endoplasmic reticulum retention signal (KTKKQ). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200473" 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>
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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="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a> determined that the ALG8 gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12480927" 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>
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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="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G. <strong>Characterization of 16 novel human genes showing high similarity to yeast sequences.</strong> Yeast 18: 69-80, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11124703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11124703</a>] [<a href="https://doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11124703">Stanchi et al. (2001)</a> mapped the ALG8 gene to chromosome 11pter-p15.5. However, <a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a> mapped the ALG8 gene to chromosome 11q14 by genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12480927+11124703" 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>
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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="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><strong><em>Congenital Disorder of Glycosylation Ih</em></strong></p><p>
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In a patient with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>), <a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a> identified compound heterozygosity for 2 frameshift mutations (<a href="#0001">608103.0001</a>-<a href="#0002">608103.0002</a>) in exon 4 of the ALG8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12480927" 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="#5" class="mim-tip-reference" title="Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G. <strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong> J. Med. Genet. 41: 550-556, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>] [<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235028">Schollen et al. (2004)</a> described 3 patients from 2 families with CDH1H associated with a severe clinical phenotype and early infant death. In each family they identified compound heterozygosity for a splice site mutation and a missense mutation (see <a href="#0003">608103.0003</a>-<a href="#0005">608103.0005</a>). Each parent was a carrier of one of the respective mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D. <strong>ALG8-CDG: novel patient and review of the literature.</strong> Orphanet J. Rare Dis. 10: 73, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26066342[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/10.1186/s13023-015-0289-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26066342">Hock et al. (2015)</a> identified compound heterozygous mutations in the ALG8 gene (<a href="#0004">608103.0004</a>; <a href="#0007">608103.0007</a>; <a href="#0010">608103.0010</a>) in 2 unrelated patients (patients 2 and 5) with CDG1H. The mutations were identified by sequencing of the ALG8 gene. Patient 2 had a similarly affected deceased sib who did not undergo gene sequencing. All 3 patients had a type 1 pattern on plasma transferrin isoelectric focusing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Polycystic Liver Disease 3 with or without Polycystic Kidney Disease</em></strong></p><p>
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In 5 unrelated patients with polycystic liver disease-3 with or without kidney cysts (PCLD3; <a href="/entry/617874">617874</a>), <a href="#1" class="mim-tip-reference" title="Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S. <strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong> J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28375157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28375157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28375157[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI90129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28375157">Besse et al. (2017)</a> identified heterozygous truncating mutations in the ALG8 gene (<a href="#0007">608103.0007</a>-<a href="#0009">608103.0009</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were present at low frequencies in the ExAC database. One patient (W-YU363) had an affected daughter who also carried the mutation. Otherwise, family members were not available for segregation analysis. Statistical analysis of the frequency of loss-of-function ALG8 variants among patients compared to controls suggested that ALG8 is a candidate gene for the disorder. Functional studies of the variants and studies of patient cells were not performed, but CRISPR/Cas9 inactivation of both Alg8 alleles in a mouse epithelial cell line resulted in decreased levels of the Pkd1 (<a href="/entry/601313">601313</a>) protein, decreased posttranslational glycosylation and modification of Pkd1, and impaired trafficking of Pkd1 to the cell surface and, by extension, to cilia. Reexpression of wildtype Alg8 rescued these defects. These findings suggested that defective biogenesis of PKD1 in the endoplasmic reticulum and impaired PKD1 function and signaling mechanistically underlies the development of cysts. The patients were ascertained from a cohort of 102 patients with polycystic liver disease who did not have mutations in the PRKCSH (<a href="/entry/177060">177060</a>) or SEC63 (<a href="/entry/608648">608648</a>) genes and who underwent whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28375157" 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608103[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906277 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906277;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906277" 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=rs387906277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>), <a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a> identified compound heterozygosity for 2 mutations in exon 4 of the ALG8 gene, a 1-bp deletion (413delC) inherited from the father and a 1-bp insertion (396insA; <a href="#0002">608103.0002</a>) inherited from the mother. Both mutations gave rise to premature stop codons predicted to generate severely truncated proteins. Because the translation inhibitor emetine stabilized the ALG8 mRNA from the patient to normal levels, it was considered likely that both transcripts underwent nonsense-mediated mRNA decay. The cells from the patient were successfully complemented with wildtype ALG8 cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12480927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs753631154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753631154;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/rs753631154?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=rs753631154" 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=rs753631154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp insertion in the ALG8 gene (396insA) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>) by <a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a>, see <a href="#0001">608103.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12480927" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</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">rs1555073109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555073109;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1555073109" 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=rs1555073109" 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 brother and sister with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>), <a href="#5" class="mim-tip-reference" title="Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G. <strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong> J. Med. Genet. 41: 550-556, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>] [<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235028">Schollen et al. (2004)</a> identified compound heterozygosity for an A-to-G transition at position -2 of intron 1 and a 139A-C transversion in exon 2. The splice site mutation causes use of a cryptic splice site, resulting in an 11-bp deletion and a premature stop at codon 38; the transversion in exon 2 results in a thr47-to-pro substitution (T47P; <a href="#0004">608103.0004</a>). The sibs also carried a 665A-G polymorphism, which results in an asn222-to-ser (N222S) substitution, on the same allele as the missense mutation. The authors noted that these patients had a much more severe presentation than the patient described by <a href="#2" class="mim-tip-reference" title="Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H. <strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong> J. Biol. Chem. 278: 9962-9971, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>] [<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480927">Chantret et al. (2003)</a>, including antenatal symptoms and early infant death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12480927+15235028" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</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> rs121908293 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908293;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/rs121908293?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=rs121908293" 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=rs121908293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002670 OR RCV002496232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002670, RCV002496232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002670...</a>
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<p>For discussion of the thr47-to-pro (T47P) mutation in the ALG8 gene that was found in compound heterozygous state in sibs with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>) by <a href="#5" class="mim-tip-reference" title="Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G. <strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong> J. Med. Genet. 41: 550-556, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>] [<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235028">Schollen et al. (2004)</a>, see <a href="#0003">608103.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235028" 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 patients with CDG1H, <a href="#3" class="mim-tip-reference" title="Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D. <strong>ALG8-CDG: novel patient and review of the literature.</strong> Orphanet J. Rare Dis. 10: 73, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26066342[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/10.1186/s13023-015-0289-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26066342">Hock et al. (2015)</a> identified compound heterozygous mutations in the ALG8 gene. Both patients carried the c.139A-C transversion, resulting in a T47P substitution, on one allele. Patient 2, from the Tyrolean region of Austria, carried a c.1090C-T transition in exon 10 on the other allele, resulting in an arg364-to-ter (R364X; <a href="#0007">608103.0007</a>) substitution, and patient 5 carried a 2-bp deletion (c.1219_1220delCT; <a href="#0010">608103.0010</a>) in exon 11 on the other allele, predicted to result in a frameshift and premature termination (Leu407AspfsTer23). The mutations were identified by sequencing of the ALG8 gene. Patient 2 had a similarly affected deceased older sib who had not undergone genetic testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</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> rs1470636347 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1470636347;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/rs1470636347?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=rs1470636347" 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=rs1470636347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002671 OR RCV002496233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002671, RCV002496233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002671...</a>
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<p>In a male infant with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>), <a href="#5" class="mim-tip-reference" title="Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G. <strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong> J. Med. Genet. 41: 550-556, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>] [<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235028">Schollen et al. (2004)</a> identified compound heterozygosity for an A-to-G transition at position +4 of intron 6 and an 824G-A transition in exon 8, resulting in a gly275-to-asp substitution (G275D; <a href="#0006">608103.0006</a>). The patient had multiple dysmorphic features of the head and extremities, bilateral thoracic and pulmonary hypoplasia, cardiac defects, and diffuse renal and hepatic cystic disease as well as hematopoietic abnormalities, and died at 3 months of age after developing dyspnea due to progressive ascites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</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> rs121908294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908294;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/rs121908294?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=rs121908294" 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=rs121908294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002672 OR RCV002496234" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002672, RCV002496234" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002672...</a>
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<p>For discussion of the gly275-to-asp (G275D) mutation in the ALG8 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>) by <a href="#5" class="mim-tip-reference" title="Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G. <strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong> J. Med. Genet. 41: 550-556, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>] [<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235028">Schollen et al. (2004)</a>, see <a href="#0005">608103.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 POLYCYSTIC LIVER DISEASE 3 WITH KIDNEY CYSTS</strong>
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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih, INCLUDED
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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> rs376161880 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376161880;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/rs376161880?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=rs376161880" 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=rs376161880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000356855 OR RCV000584794 OR RCV001535890 OR RCV001843038 OR RCV002252077 OR RCV002519040 OR RCV003448977 OR RCV004757187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000356855, RCV000584794, RCV001535890, RCV001843038, RCV002252077, RCV002519040, RCV003448977, RCV004757187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000356855...</a>
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<p><strong><em>Polycystic Liver Disease 3 with Kidney Cysts</em></strong></p><p>
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In 3 unrelated patients (YU313, T-55, and T-70) with polycystic liver disease-3 with kidney cysts (PCLD3; <a href="/entry/617874">617874</a>), <a href="#1" class="mim-tip-reference" title="Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S. <strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong> J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28375157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28375157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28375157[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI90129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28375157">Besse et al. (2017)</a> identified a heterozygous c.1090C-T transition in the ALG8 gene, resulting in an arg364-to-ter (R364X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (4.5 x 10(-5)) in the ExAC database. Two patients were of European descent and 1 was of African American descent. No family data were available for segregation analysis. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28375157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Disorder of Glycosylation, Type Ih</em></strong></p><p>
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For discussion of the c.1090C-T transition in the ALG8 gene, resulting in an R364X substitution, that was found in compound heterozygous state in a patient (patient 2) with congenital disorder of glycosylation type Ih (CDG1H; <a href="/entry/608104">608104</a>) by <a href="#3" class="mim-tip-reference" title="Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D. <strong>ALG8-CDG: novel patient and review of the literature.</strong> Orphanet J. Rare Dis. 10: 73, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26066342[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/10.1186/s13023-015-0289-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26066342">Hock et al. (2015)</a>, see <a href="#0004">608103.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 POLYCYSTIC LIVER DISEASE 3 WITHOUT KIDNEY CYSTS</strong>
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ALG8, IVS10DS, G-T, +1
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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> rs202112771 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202112771;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/rs202112771?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=rs202112771" 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=rs202112771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000584825" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000584825" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000584825</a>
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<p>In a 59-year-old woman of Finnish descent (FINN59) with polycystic liver disease-3 without kidney cysts (PCLD3; <a href="/entry/617874">617874</a>), <a href="#1" class="mim-tip-reference" title="Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S. <strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong> J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28375157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28375157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28375157[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI90129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28375157">Besse et al. (2017)</a> identified a heterozygous G-to-T transversion (c.1038+1G-T) in intron 10 of the ALG8 gene, resulting in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (1.65 x 10(-4)) in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28375157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs762811727 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs762811727;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/rs762811727?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=rs762811727" 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=rs762811727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000584773 OR RCV002506394 OR RCV003480705 OR RCV003596048 OR RCV005091522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000584773, RCV002506394, RCV003480705, RCV003596048, RCV005091522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000584773...</a>
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<p>In a 63-year-old man of European descent (W-YU363) with polycystic liver disease-3 with kidney cysts (PCLD3; <a href="/entry/617874">617874</a>), <a href="#1" class="mim-tip-reference" title="Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S. <strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong> J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28375157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28375157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28375157[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI90129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28375157">Besse et al. (2017)</a> identified a heterozygous c.535C-T transition in the ALG8 gene, resulting in an arg179-to-ter (R179X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (1.705 x 10(-5)) in the ExAC database. His 19-year-old daughter (W-YU364) also carried the mutation; she had 8 kidney cysts, but no liver cysts. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28375157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</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">rs2136876881 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136876881;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2136876881" 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=rs2136876881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001842227" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001842227" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001842227</a>
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<p>For discussion of the 2-bp deletion (c.1219_1220delCT) in the ALG8 gene, predicted to result in a frameshift and premature termination (Leu407AspfsTer23), that was found in compound heterozygous state in a patient (patient 5) with congenital disorder of glycosylation Ih (CDG1H; <a href="/entry/608104">608104</a>) by <a href="#3" class="mim-tip-reference" title="Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D. <strong>ALG8-CDG: novel patient and review of the literature.</strong> Orphanet J. Rare Dis. 10: 73, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26066342[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/10.1186/s13023-015-0289-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26066342">Hock et al. (2015)</a>, see <a href="#0004">608103.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066342" 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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Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S.
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<strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong>
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J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28375157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28375157</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28375157[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=28375157" 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/10.1172/JCI90129" target="_blank">Full Text</a>]
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Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H.
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<strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong>
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J. Biol. Chem. 278: 9962-9971, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12480927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M211950200" target="_blank">Full Text</a>]
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Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D.
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<strong>ALG8-CDG: novel patient and review of the literature.</strong>
|
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Orphanet J. Rare Dis. 10: 73, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26066342[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=26066342" 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/10.1186/s13023-015-0289-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<a id="4" class="mim-anchor"></a>
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<a id="Oriol2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oriol, R., Martinez-Duncker, I., Chantret, I., Mollicone, R., Codogno, P.
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<strong>Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.</strong>
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Molec. Biol. Evol. 19: 1451-1463, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200473" 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/oxfordjournals.molbev.a004208" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Schollen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G.
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<strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong>
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J. Med. Genet. 41: 550-556, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2003.016923" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Stanchi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G.
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<strong>Characterization of 16 novel human genes showing high similarity to yeast sequences.</strong>
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Yeast 18: 69-80, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11124703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11124703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11124703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 03/01/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Cassandra L. Kniffin - updated : 02/19/2018<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Matthew B. Gross - updated : 9/17/2003
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/17/2003
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/02/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/01/2022<br>carol : 01/17/2020<br>carol : 12/30/2019<br>carol : 02/22/2018<br>carol : 02/21/2018<br>ckniffin : 02/19/2018<br>mcolton : 07/23/2015<br>joanna : 1/13/2011<br>tkritzer : 9/27/2004<br>carol : 9/1/2004<br>terry : 8/27/2004<br>mgross : 9/17/2003
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608103
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ALG8 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG8
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ALG8, S. CEREVISIAE, HOMOLOG OF<br />
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DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALG8</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 720977000;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q14.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:78,100,946-78,139,626 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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11q14.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type Ih
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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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608104
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Polycystic liver disease 3 with or without kidney cysts
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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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617874
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>The alpha-3-glucosyltransferase ALG8 adds the second glucose to the lipid-linked oligosaccharide precursor used in the N-glycosylation of proteins.</p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching an EST database for human homologs of yeast genes, Stanchi et al. (2001) identified ALG8. They obtained the full-length cDNA and determined that the ALG8 protein contains 532 amino acids. It shares 38% amino acid identity with yeast ALG8. </p><p>By database analysis, Oriol et al. (2002) identified ALG8. They determined that the 526-amino acid protein has 12 transmembrane domains and an endoplasmic reticulum retention signal (KTKKQ). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chantret et al. (2003) determined that the ALG8 gene contains 13 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By radiation hybrid analysis, Stanchi et al. (2001) mapped the ALG8 gene to chromosome 11pter-p15.5. However, Chantret et al. (2003) mapped the ALG8 gene to chromosome 11q14 by genomic sequence analysis. </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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p><strong><em>Congenital Disorder of Glycosylation Ih</em></strong></p><p>
|
|
In a patient with congenital disorder of glycosylation Ih (CDG1H; 608104), Chantret et al. (2003) identified compound heterozygosity for 2 frameshift mutations (608103.0001-608103.0002) in exon 4 of the ALG8 gene. </p><p>Schollen et al. (2004) described 3 patients from 2 families with CDH1H associated with a severe clinical phenotype and early infant death. In each family they identified compound heterozygosity for a splice site mutation and a missense mutation (see 608103.0003-608103.0005). Each parent was a carrier of one of the respective mutations. </p><p>Hock et al. (2015) identified compound heterozygous mutations in the ALG8 gene (608103.0004; 608103.0007; 608103.0010) in 2 unrelated patients (patients 2 and 5) with CDG1H. The mutations were identified by sequencing of the ALG8 gene. Patient 2 had a similarly affected deceased sib who did not undergo gene sequencing. All 3 patients had a type 1 pattern on plasma transferrin isoelectric focusing. </p><p><strong><em>Polycystic Liver Disease 3 with or without Polycystic Kidney Disease</em></strong></p><p>
|
|
In 5 unrelated patients with polycystic liver disease-3 with or without kidney cysts (PCLD3; 617874), Besse et al. (2017) identified heterozygous truncating mutations in the ALG8 gene (608103.0007-608103.0009). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were present at low frequencies in the ExAC database. One patient (W-YU363) had an affected daughter who also carried the mutation. Otherwise, family members were not available for segregation analysis. Statistical analysis of the frequency of loss-of-function ALG8 variants among patients compared to controls suggested that ALG8 is a candidate gene for the disorder. Functional studies of the variants and studies of patient cells were not performed, but CRISPR/Cas9 inactivation of both Alg8 alleles in a mouse epithelial cell line resulted in decreased levels of the Pkd1 (601313) protein, decreased posttranslational glycosylation and modification of Pkd1, and impaired trafficking of Pkd1 to the cell surface and, by extension, to cilia. Reexpression of wildtype Alg8 rescued these defects. These findings suggested that defective biogenesis of PKD1 in the endoplasmic reticulum and impaired PKD1 function and signaling mechanistically underlies the development of cysts. The patients were ascertained from a cohort of 102 patients with polycystic liver disease who did not have mutations in the PRKCSH (177060) or SEC63 (608648) genes and who underwent whole-exome sequencing. </p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ALG8, 1-BP DEL, 413C
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<br />
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|
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|
SNP: rs387906277,
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|
|
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|
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ClinVar: RCV000002667
|
|
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient with congenital disorder of glycosylation Ih (CDG1H; 608104), Chantret et al. (2003) identified compound heterozygosity for 2 mutations in exon 4 of the ALG8 gene, a 1-bp deletion (413delC) inherited from the father and a 1-bp insertion (396insA; 608103.0002) inherited from the mother. Both mutations gave rise to premature stop codons predicted to generate severely truncated proteins. Because the translation inhibitor emetine stabilized the ALG8 mRNA from the patient to normal levels, it was considered likely that both transcripts underwent nonsense-mediated mRNA decay. The cells from the patient were successfully complemented with wildtype ALG8 cDNA. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ALG8, 1-BP INS, 396A
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<br />
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SNP: rs753631154,
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gnomAD: rs753631154,
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ClinVar: RCV000002668, RCV003129747
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp insertion in the ALG8 gene (396insA) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation Ih (CDG1H; 608104) by Chantret et al. (2003), see 608103.0001. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
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|
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|
ALG8, IVS1AS, A-G, -2
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|
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|
<br />
|
|
|
|
SNP: rs1555073109,
|
|
|
|
|
|
|
|
ClinVar: RCV000002669
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister with congenital disorder of glycosylation Ih (CDG1H; 608104), Schollen et al. (2004) identified compound heterozygosity for an A-to-G transition at position -2 of intron 1 and a 139A-C transversion in exon 2. The splice site mutation causes use of a cryptic splice site, resulting in an 11-bp deletion and a premature stop at codon 38; the transversion in exon 2 results in a thr47-to-pro substitution (T47P; 608103.0004). The sibs also carried a 665A-G polymorphism, which results in an asn222-to-ser (N222S) substitution, on the same allele as the missense mutation. The authors noted that these patients had a much more severe presentation than the patient described by Chantret et al. (2003), including antenatal symptoms and early infant death. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, THR47PRO
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|
<br />
|
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|
|
SNP: rs121908293,
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|
|
|
|
|
gnomAD: rs121908293,
|
|
|
|
|
|
ClinVar: RCV000002670, RCV002496232
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the thr47-to-pro (T47P) mutation in the ALG8 gene that was found in compound heterozygous state in sibs with congenital disorder of glycosylation Ih (CDG1H; 608104) by Schollen et al. (2004), see 608103.0003. </p><p>In 2 unrelated patients with CDG1H, Hock et al. (2015) identified compound heterozygous mutations in the ALG8 gene. Both patients carried the c.139A-C transversion, resulting in a T47P substitution, on one allele. Patient 2, from the Tyrolean region of Austria, carried a c.1090C-T transition in exon 10 on the other allele, resulting in an arg364-to-ter (R364X; 608103.0007) substitution, and patient 5 carried a 2-bp deletion (c.1219_1220delCT; 608103.0010) in exon 11 on the other allele, predicted to result in a frameshift and premature termination (Leu407AspfsTer23). The mutations were identified by sequencing of the ALG8 gene. Patient 2 had a similarly affected deceased older sib who had not undergone genetic testing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, IVS6DS, A-G, +4
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1470636347,
|
|
|
|
|
|
gnomAD: rs1470636347,
|
|
|
|
|
|
ClinVar: RCV000002671, RCV002496233
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with congenital disorder of glycosylation Ih (CDG1H; 608104), Schollen et al. (2004) identified compound heterozygosity for an A-to-G transition at position +4 of intron 6 and an 824G-A transition in exon 8, resulting in a gly275-to-asp substitution (G275D; 608103.0006). The patient had multiple dysmorphic features of the head and extremities, bilateral thoracic and pulmonary hypoplasia, cardiac defects, and diffuse renal and hepatic cystic disease as well as hematopoietic abnormalities, and died at 3 months of age after developing dyspnea due to progressive ascites. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, GLY275ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908294,
|
|
|
|
|
|
gnomAD: rs121908294,
|
|
|
|
|
|
ClinVar: RCV000002672, RCV002496234
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly275-to-asp (G275D) mutation in the ALG8 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation Ih (CDG1H; 608104) by Schollen et al. (2004), see 608103.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 POLYCYSTIC LIVER DISEASE 3 WITH KIDNEY CYSTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, ARG364TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs376161880,
|
|
|
|
|
|
gnomAD: rs376161880,
|
|
|
|
|
|
ClinVar: RCV000356855, RCV000584794, RCV001535890, RCV001843038, RCV002252077, RCV002519040, RCV003448977, RCV004757187
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Polycystic Liver Disease 3 with Kidney Cysts</em></strong></p><p>
|
|
In 3 unrelated patients (YU313, T-55, and T-70) with polycystic liver disease-3 with kidney cysts (PCLD3; 617874), Besse et al. (2017) identified a heterozygous c.1090C-T transition in the ALG8 gene, resulting in an arg364-to-ter (R364X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (4.5 x 10(-5)) in the ExAC database. Two patients were of European descent and 1 was of African American descent. No family data were available for segregation analysis. Functional studies of the variant and studies of patient cells were not performed. </p><p><strong><em>Congenital Disorder of Glycosylation, Type Ih</em></strong></p><p>
|
|
For discussion of the c.1090C-T transition in the ALG8 gene, resulting in an R364X substitution, that was found in compound heterozygous state in a patient (patient 2) with congenital disorder of glycosylation type Ih (CDG1H; 608104) by Hock et al. (2015), see 608103.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 POLYCYSTIC LIVER DISEASE 3 WITHOUT KIDNEY CYSTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, IVS10DS, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs202112771,
|
|
|
|
|
|
gnomAD: rs202112771,
|
|
|
|
|
|
ClinVar: RCV000584825
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 59-year-old woman of Finnish descent (FINN59) with polycystic liver disease-3 without kidney cysts (PCLD3; 617874), Besse et al. (2017) identified a heterozygous G-to-T transversion (c.1038+1G-T) in intron 10 of the ALG8 gene, resulting in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (1.65 x 10(-4)) in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 POLYCYSTIC LIVER DISEASE 3 WITH KIDNEY CYSTS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, ARG179TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs762811727,
|
|
|
|
|
|
gnomAD: rs762811727,
|
|
|
|
|
|
ClinVar: RCV000584773, RCV002506394, RCV003480705, RCV003596048, RCV005091522
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 63-year-old man of European descent (W-YU363) with polycystic liver disease-3 with kidney cysts (PCLD3; 617874), Besse et al. (2017) identified a heterozygous c.535C-T transition in the ALG8 gene, resulting in an arg179-to-ter (R179X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present at a low frequency (1.705 x 10(-5)) in the ExAC database. His 19-year-old daughter (W-YU364) also carried the mutation; she had 8 kidney cysts, but no liver cysts. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG8, 2-BP DEL, 1219CT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2136876881,
|
|
|
|
|
|
|
|
ClinVar: RCV001842227
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion (c.1219_1220delCT) in the ALG8 gene, predicted to result in a frameshift and premature termination (Leu407AspfsTer23), that was found in compound heterozygous state in a patient (patient 5) with congenital disorder of glycosylation Ih (CDG1H; 608104) by Hock et al. (2015), see 608103.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
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|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., Mane, S., Tahvanainen, E., Tahvanainen, P., Sanna-Cherchi, S., Lifton, R. P., Watnick, T., Pei, Y. P., Torres, V. E., Somlo, S.
|
|
<strong>Isolated polycystic liver disease genes define effectors of polycystin-1 function.</strong>
|
|
J. Clin. Invest. 127: 1772-1785, 2017. Note: Erratum: J. Clin. Invest. 127: 3558 only, 2017.
|
|
|
|
|
|
[PubMed: 28375157]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI90129]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chantret, I., Dancourt, J., Dupre, T., Delenda, C., Bucher, S., Vuillaumier-Barrot, S., de Baulny, H. O., Peletan, C., Danos, O., Seta, N., Durand, G., Oriol, R., Codogno, P., Moore, S. E. H.
|
|
<strong>A deficiency in dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl alpha-3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.</strong>
|
|
J. Biol. Chem. 278: 9962-9971, 2003.
|
|
|
|
|
|
[PubMed: 12480927]
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|
|
[Full Text: https://doi.org/10.1074/jbc.M211950200]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hock, M., Wegleiter, K., Raiser, E., Kiechl-Kohlendorfer, U., Scholl-Burgi, S., Fauth, C., Steichen, E., Pichler, K., Lefeber, D. J., Matthjis, G., Keldermans, L., Mauer, K., Zschocke, J., Karall, D.
|
|
<strong>ALG8-CDG: novel patient and review of the literature.</strong>
|
|
Orphanet J. Rare Dis. 10: 73, 2015.
|
|
|
|
|
|
[PubMed: 26066342]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/s13023-015-0289-7]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oriol, R., Martinez-Duncker, I., Chantret, I., Mollicone, R., Codogno, P.
|
|
<strong>Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.</strong>
|
|
Molec. Biol. Evol. 19: 1451-1463, 2002.
|
|
|
|
|
|
[PubMed: 12200473]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/oxfordjournals.molbev.a004208]
|
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|
|
|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
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Schollen, E., Frank, C. G., Keldermans, L., Reyntjens, R., Grubenmann, C. E., Clayton, P. T., Winchester, B. G., Smeitink, J., Wevers, R. A., Aebi, M., Hennet, T., Matthijs, G.
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<strong>Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (Letter)</strong>
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J. Med. Genet. 41: 550-556, 2004.
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[PubMed: 15235028]
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[Full Text: https://doi.org/10.1136/jmg.2003.016923]
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Stanchi, F., Bertocco, E., Toppo, S., Dioguardi, R., Simionati, B., Cannata, N., Zimbello, R., Lanfranchi, G., Valle, G.
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<strong>Characterization of 16 novel human genes showing high similarity to yeast sequences.</strong>
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Yeast 18: 69-80, 2001.
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[PubMed: 11124703]
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[Full Text: https://doi.org/10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H]
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Hilary J. Vernon - updated : 03/01/2022<br>Cassandra L. Kniffin - updated : 02/19/2018<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Matthew B. Gross - updated : 9/17/2003
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Victor A. McKusick : 9/17/2003
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