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<title>
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Entry
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- *300776 - ALG13 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT; ALG13
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- OMIM
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</ul>
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<div id="mimSearch" class="hidden-print">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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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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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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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">*300776</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/300776">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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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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 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=ENSG00000101901;t=ENST00000394780" 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=79868" 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=300776" 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=ENSG00000101901;t=ENST00000394780" 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_001039210,NM_001099922,NM_001168385,NM_001257230,NM_001257231,NM_001257234,NM_001257235,NM_001257237,NM_001257239,NM_001257240,NM_001257241,NM_001324290,NM_001324291,NM_001324292,NM_001324293,NM_001324294,NM_018466,NR_033125,NR_136735,NR_148693,XM_006724693,XM_006724697,XM_006724698,XM_011531028,XM_011531030,XM_011531031,XM_011531032,XM_011531033,XM_011531034,XM_017029846,XM_017029847,XM_017029848,XM_017029849,XM_017029850,XM_017029852,XM_024452449,XM_047442520,XM_047442521,XM_047442522,XM_047442523,XM_047442524,XM_047442525,XM_047442526,XM_047442527,XM_047442528,XM_047442529,XM_047442530,XM_047442531" 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_001099922" 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=300776" 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=06542&isoform_id=06542_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/ALG13" 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/7689009,8923934,10439574,13529128,62897869,109658726,109658894,119623039,119623040,119623041,119623042,153791910,189053340,221040224,221043198,221044226,221044312,221045134,221046000,270309167,270309169,298286785,380848749,380848751,380848754,380848757,380848759,380848761,380848763,380848765,578838482,768038114,768038123,768038128,768038131,768038134,768038137,768038140,768038143,1024249289,1024249299,1024249305,1024249313,1024249329,1034675289,1034675291,1034675295,1034675299,1034675301,1034675305,1370524982,2217394942,2217394945,2217394948,2217394955,2217394957,2217394959,2217394966,2217394969,2217394971,2217394973,2217394975,2217394978,2462631132,2462631134,2462631136,2462631138,2462631140,2462631142,2462631144,2462631146,2462631148,2462631150,2462631152,2462631154,2462631156,2462631158,2462631160,2462631162,2462631164,2462631166,2462631168,2462631170,2462631172,2462631174,2462631176,2462631178,2462631180,2462631182,2462631184,2462631186" 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/Q9NP73" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=79868" 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=ENSG00000101901;t=ENST00000394780" 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=ALG13" 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=ALG13" 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+79868" 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/ALG13" 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:79868" 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/79868" 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=chrX&hgg_gene=ENST00000394780.8&hgg_start=111681170&hgg_end=111760649&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:30881" 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=300776[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=300776[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/ALG13/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/ENSG00000101901" 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=ALG13" 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=ALG13" 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=ALG13" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/ALG13" 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=ALG13&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/PA162376235" 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:30881" 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/FBgn0003023.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:1914824" 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/ALG13#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:1914824" 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/79868/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=79868" 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=WBGene00011193;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-060307-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79868" 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=ALG13&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> 733451007<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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300776
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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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ALG13 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT; ALG13
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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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ALG13, S. CEREVISIAE, HOMOLOG OF<br />
|
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ASPARAGINE-LINKED GLYCOSYLATION 13, S. CEREVISIAE, HOMOLOG OF<br />
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GLYCOSYLTRANSFERASE 28 DOMAIN-CONTAINING 1; GLT28D1
|
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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=ALG13" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG13</a></em></strong>
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</span>
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</p>
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</div>
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Developmental and epileptic encephalopathy 36
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (<a href="/entry/612866">612866</a>) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (summary by <a href="#2" class="mim-tip-reference" title="Averbeck, N., Keppler-Ross, S., Dean, N. <strong>Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.</strong> J. Biol. Chem. 282: 29081-29088, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686769</a>] [<a href="https://doi.org/10.1074/jbc.M704410200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17686769">Averbeck et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17686769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By database analysis, followed by PCR of human whole brain cDNA, <a href="#11" class="mim-tip-reference" title="Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N. <strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong> J. Biol. Chem. 280: 36254-36262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16100110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16100110</a>] [<a href="https://doi.org/10.1074/jbc.M507569200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16100110">Gao et al. (2005)</a> cloned ALG13. The deduced 161-amino acid protein has a calculated molecular mass of 18.2 kD and shares 28% sequence identity with yeast Alg13. Alg13 contains a predicted catalytic domain but lacks a membrane-spanning domain. Fluorescence microscopy and subcellular fractionation studies localized the S. cerevisiae Alg13 protein to the endoplasmic reticulum membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16100110" 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>There are multiple isoforms of the ALG13 gene. Using RT-PCR, <a href="#8" class="mim-tip-reference" title="Esposito, T., Lea, R. A., Maher, B. H., Moses, D., Cox, H. C., Magliocca, S., Angius, A., Nyholt, D. R., Titus, T., Kay, T., Gray, N. A., Rastaldi, M. P., Parnham, A., Gianfrancesco, F., Griffiths, L. R. <strong>Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.</strong> Hum. Molec. Genet. 22: 3654-3666, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23686279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23686279</a>] [<a href="https://doi.org/10.1093/hmg/ddt215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23686279">Esposito et al. (2013)</a> found expression of 3 isoforms in human ovary, kidney, pancreas, brain, testis, lung, and heart. The short isoforms 2 and 3 also showed high expression in liver and low expression in muscle. Mouse Alg13 was expressed in the mouse podocyte. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23686279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N. <strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong> J. Biol. Chem. 280: 36254-36262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16100110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16100110</a>] [<a href="https://doi.org/10.1074/jbc.M507569200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16100110">Gao et al. (2005)</a> used coimmunoprecipitation studies to demonstrate interaction between S. cerevisiae Alg13 and Alg14 proteins. By individual and joint overexpression of Alg13 and Alg14, followed by cell localization studies, they showed that localization of Alg13 to the ER membrane is dependent upon its association with Alg14, and that increasing Alg14 levels to match those of Alg13 restored Alg13 localization to the ER. <a href="#11" class="mim-tip-reference" title="Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N. <strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong> J. Biol. Chem. 280: 36254-36262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16100110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16100110</a>] [<a href="https://doi.org/10.1074/jbc.M507569200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16100110">Gao et al. (2005)</a> concluded that Alg13 recruitment to the ER is mediated by Alg14. Human ALG13 and ALG14 each functionally complemented the corresponding Alg13 and Alg14 mutants in S. cerevisiae to partially restore the defective glycosylation phenotype. <a href="#11" class="mim-tip-reference" title="Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N. <strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong> J. Biol. Chem. 280: 36254-36262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16100110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16100110</a>] [<a href="https://doi.org/10.1074/jbc.M507569200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16100110">Gao et al. (2005)</a> suggested that the human ALG13 and ALG14 proteins interact with each other to form a functional UDP-GlcNAc transferase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16100110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using functional analysis of S. cerevisiae Alg13/Alg14 chimeras and in vitro protease protection assays, <a href="#2" class="mim-tip-reference" title="Averbeck, N., Keppler-Ross, S., Dean, N. <strong>Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.</strong> J. Biol. Chem. 282: 29081-29088, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686769</a>] [<a href="https://doi.org/10.1074/jbc.M704410200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17686769">Averbeck et al. (2007)</a> concluded that Alg13 and Alg14 comprise a novel bipartite UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition in the synthesis of the dolichol-linked oligosaccharide precursor in N-linked glycosylation. Alg14 is a membrane protein that recruits the soluble Alg13 catalytic subunit from the cytosol to the face of the ER membrane where the reaction occurs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17686769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 10/27/2020."None>Stumpf (2020)</a> mapped the ALG13 gene to chromosome Xq23 based on an alignment of the ALG13 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC117379" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC117379</a>) with the genomic sequence (GRCh38).</p>
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<p><strong><em>Developmental and Epileptic Encephalopathy 36</em></strong></p><p>
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In a 10-year-old girl (trio 37) with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#5" class="mim-tip-reference" title="de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M. <strong>Diagnostic exome sequencing in persons with severe intellectual disability.</strong> New Eng. J. Med. 367: 1921-1929, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23033978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23033978</a>] [<a href="https://doi.org/10.1056/NEJMoa1206524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23033978">de Ligt et al. (2012)</a> identified a de novo heterozygous missense mutation in the ALG13 gene (N107S; <a href="#0002">300776.0002</a>). The patient was ascertained from a larger cohort of 100 patients with severe intellectual disability who underwent exome sequencing. The patient also carried a de novo heterozygous E89K variant in the KRT32 gene (<a href="/entry/602760">602760</a>) that was not thought to be pathogenic. The <a href="#7" class="mim-tip-reference" title="Epi4K Consortium and Epilepsy Phenome/Genome Project. <strong>De novo mutations in epileptic encephalopathies.</strong> Nature 501: 217-221, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23934111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23934111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23934111[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/10.1038/nature12439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23934111">Epi4K Consortium and Epilepsy Phenome/Genome Project (2013)</a> identified a de novo heterozygous N107S mutation in 2 unrelated girls with DEE36. The patients were part of a larger cohort of 264 probands with epileptic encephalopathy who underwent exome sequencing. Isoelectric focusing of serum transferrin was not reported in the girls with the N107S mutation. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23033978+23934111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Caucasian boy with DEE36 who died at age 1 year, <a href="#19" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified a hemizygous missense mutation in the ALG13 gene (K94E; <a href="#0001">300776.0001</a>). The mutation was identified by exome sequencing and confirmed by Sanger sequencing. Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype. The patient was 1 of 6 patients with unsolved CDG type I from unrelated families who underwent whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" 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="#15" class="mim-tip-reference" title="Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., Mefford, H. C., Rouleau, G. A., Rossignol, E. <strong>The genetic landscape of infantile spasms.</strong> Hum. Molec. Genet. 23: 4846-4858, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781210</a>] [<a href="https://doi.org/10.1093/hmg/ddu199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24781210">Michaud et al. (2014)</a> identified a de novo heterozygous N107S mutation in the ALG13 gene in a girl with DEE36. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. The girl also had a heterozygous 9p24.2 deletion inherited from her unaffected mother that was predicted to be benign. <a href="#15" class="mim-tip-reference" title="Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., Mefford, H. C., Rouleau, G. A., Rossignol, E. <strong>The genetic landscape of infantile spasms.</strong> Hum. Molec. Genet. 23: 4846-4858, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781210</a>] [<a href="https://doi.org/10.1093/hmg/ddu199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24781210">Michaud et al. (2014)</a> postulated that ALG13 mutations in girls may represent either a dominant-negative or a gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24781210" 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="#6" class="mim-tip-reference" title="Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., and 9 others. <strong>Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.</strong> Clin. Genet. 89: 198-204, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26138355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26138355</a>] [<a href="https://doi.org/10.1111/cge.12636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26138355">Dimassi et al. (2016)</a> identified a de novo heterozygous N107S mutation in a 6-year-old girl with DEE36. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26138355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with DEE36, <a href="#3" class="mim-tip-reference" title="Bastaki, F., Bizzari, S., Hamici, S., Nair, P., Mohamed, M., Saif, F., Malik, E. M., Al-Ali, M. T., Hamzeh, A. R. <strong>Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases on Arabs.</strong> Ann. Hum. Genet. 82: 35-47, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28940310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28940310</a>] [<a href="https://doi.org/10.1111/ahg.12220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28940310">Bastaki et al. (2018)</a> identified heterozygosity for the N107S mutation in the ALG13 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28940310" 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="#16" class="mim-tip-reference" title="Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others. <strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong> J. Inherit. Metab. Dis. 43: 1333-1348, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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/10.1002/jimd.12290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32681751">Ng et al. (2020)</a> reported 29 individuals with de novo heterozygous or hemizygous mutations in the ALG13 gene who were identified through next-generation sequencing. Two recurrent mutations accounted for the majority: N107S, found in 23 of 29 (79%) patients, and A81T (<a href="#0004">300776.0004</a>), found in 3 (10%) individuals. Clinical details, available for 26 patients, were consistent with DEE36 and a diagnosis of early-onset seizures with West syndrome. There were only 2 males in the cohort. One (CDG-0083) had a hemizygous N107S mutation and a phenotype consistent with DEE36. The other (CDG-0101) had a de novo G972V mutation that was not present in the gnomAD database; clinical details were limited and he was noted to be mosaic for the mutation. All 14 patients tested had normal transferrin glycosylation. Two patients had mildly abnormal glycosylation studies consistent with a type I defect, but both had resolution of these biochemical abnormalities, which were later in the normal range. In vitro studies in alg13-null yeast showed that both the N107S and A81T variants could restore a growth defect, but were unable to restore abnormal glycosylation of carboxypeptidase Y (CPY). The findings suggested that these mutations affect alg13 function in yeast. Noting that the function of ALG13 in humans remains unclear, <a href="#16" class="mim-tip-reference" title="Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others. <strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong> J. Inherit. Metab. Dis. 43: 1333-1348, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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/10.1002/jimd.12290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32681751">Ng et al. (2020)</a> speculated that the heterozygous or hemizygous ALG13 mutations found in patients likely cause a gain-of-function effect with tissue-specific manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32681751" 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="#12" class="mim-tip-reference" title="Hamici, S., Bastaki, F., Khalifa, M. <strong>Exome sequence identified a c.320A-G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: review of the literature.</strong> Europ. J. Med. Genet. 60: 541-547, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28778787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28778787</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.07.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28778787">Hamici et al. (2017)</a> identified heterozygosity for the recurrent N107S mutation in the ALG13 gene in a 2-year-old Emirati girl with DEE36. X-chromosome inactivation studies in the patient's leukocytes showed a random pattern of X-chromosome inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28778787" 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="#10" class="mim-tip-reference" title="Galama, W. H., Verhaagen-van den Akker, S. L. J., Lefeber, D. J., Feenstra, I., Verrups, A. <strong>ALG13-CDG with infantile spasm in a male patient due to a de novo ALG13 gene mutation.</strong> JIMD Rep. 40: 11-16, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28887793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28887793</a>] [<a href="https://doi.org/10.1007/8904_2017_53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28887793">Galama et al. (2018)</a> identified heterozygosity for the N107S mutation in the ALG13 gene in a 3.5-month-old boy with DEE36. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28887793" 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="#1" class="mim-tip-reference" title="Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others. <strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong> J. Inherit. Metab. Dis. 44: 1001-1012, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33734437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33734437</a>] [<a href="https://doi.org/10.1002/jimd.12378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33734437">Alsharhan et al. (2021)</a> identified heterozygous mutations in the ALG13 gene in 11 patients (3 males and 8 females) with DEE36. In the 3 male patients, the mutation was inherited from the patient's mother (P100S, <a href="#0005">300776.0005</a>; c.2458-15_2486del, <a href="#0006">300776.0006</a>; and V758F), although the V758F was considered to be a variant of unknown significance because a patient sample was not available for glycosylation analysis. All of the female patients had de novo mutations, 6 with N107S, 1 with A81T (<a href="#0004">300776.0004</a>), and 1 with G972V. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33734437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy with DEE36, <a href="#9" class="mim-tip-reference" title="Gadomski, T. E., Bolton, M., Alfadhel, M., Dvorak, C., Ogunsakin, O. A., Nelson, S. L., Morava, E. <strong>ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.</strong> Am. J. Med. Genet. 173A: 2772-2775, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777499</a>] [<a href="https://doi.org/10.1002/ajmg.a.38377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28777499">Gadomski et al. (2017)</a> identified hemizygosity for a missense mutation in the ALG13 gene (E463G; <a href="#0007">300776.0007</a>). The mutation, which was found by sequencing of a comprehensive expanded epilepsy gene panel, was also identified in heterozygous state in his asymptomatic mother. ICAM1 (<a href="/entry/147840">147840</a>) protein expression was reduced in patient fibroblasts. Adding galactose to the patient's fibroblasts in vitro increased ICAM1 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777499" 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>Associations Pending Confirmation</em></strong></p><p>
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See <a href="#0003">300776.0003</a> for discussion of a possible association of focal segmental glomerulosclerosis (FSGS; see <a href="/entry/603278">603278</a>) with mutation in the ALG13 gene.</p><p>In 4 brothers, born of unrelated Arab parents, with nonsyndromic X-linked mental retardation, <a href="#4" class="mim-tip-reference" title="Bissar-Tadmouri, N., Donahue, W. L., Al-Gazali, L., Nelson, S. F., Bayrak-Toydemir, P., Kantarci, S. <strong>X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.</strong> Am. J. Med. Genet. 164A: 164-169, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24501762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24501762</a>] [<a href="https://doi.org/10.1002/ajmg.a.36233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24501762">Bissar-Tadmouri et al. (2014)</a> identified a hemizygous c.3221A-G transition (NM_001099922.2) in the ALG13 gene, resulting in a tyr1074-to-cys (Y1074C) substitution at a residue conserved in higher vertebrates. The variant, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family; the unaffected mother was heterozygous for the variant. The variant was not found in the dbSNP or 1000 Genomes Project databases or in 65 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. Brain imaging was normal and none of the boys had congenital malformations or facial dysmorphisms. N-glycosylation studies could not be performed. <a href="#13" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. November 29, 2016."None>Hamosh (2016)</a> noted that on November 29, 2016 the ExAC database listed the Y1074C variant as occurring in 32 hemizygous males of South Asian descent, suggesting that the variant is not pathogenic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24501762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese boy with early-onset epileptic encephalopathy, severe intellectual disability, optic atrophy, and septooptic dysplasia, <a href="#14" class="mim-tip-reference" title="Hino-Fukuyo, N., Kikuchi, A. Arai-Ichinoi, N., Niihori, T., Sato, R., Suzuki, T., Kudo, H., Sato, Y., Nakayama, T., Kakisaka, Y., Kubota, Y., Kobayashi, T., Funayama, R., Nakayama, K., Uematsu, M., Aoki, Y., Haginoya, K., Kure, S. <strong>Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome</strong> Hum. Genet. 134: 649-658, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877686</a>] [<a href="https://doi.org/10.1007/s00439-015-1553-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25877686">Hino-Fukuyo et al. (2015)</a> identified a hemizygous c.880C-T transition (NM_001099922) in the ALG13 gene, resulting in a pro294-to-ser (P294S) substitution. The mutation, which was found by whole-exome sequencing, was inherited from the unaffected mother. <a href="#13" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. November 29, 2016."None>Hamosh (2016)</a> noted that on November 29, 2016 the ExAC database listed the P294S variant as occurring in 3 hemizygous males of East Asian descent, suggesting that the variant is not pathogenic (<a href="#13" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. November 29, 2016."None>Hamosh, 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Caucasian boy with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#19" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified a hemizygous c.280A-G transition (c.280A-G, NM_001099922.2) in the ALG13 gene, resulting in a lys94-to-glu (K94E) substitution at a highly conserved residue in the C-terminal glycosyltransferase domain. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the blood of the mother, but was present on the maternally inherited allele, suggesting either maternal germline mosaicism or a de novo event. The patient had refractory epilepsy, hepatomegaly, recurrent infections, increased bleeding tendency, microcephaly, horizontal nystagmus, bilateral optic nerve atrophy, and extrapyramidal and pyramidal signs. He died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of a congenital disorder of glycosylation. Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000056321 OR RCV000289979 OR RCV001249505 OR RCV001256982 OR RCV001263094 OR RCV001849307 OR RCV002321552 OR RCV003925015" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000056321, RCV000289979, RCV001249505, RCV001256982, RCV001263094, RCV001849307, RCV002321552, RCV003925015" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000056321...</a>
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<p>In a 10-year-old girl with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#5" class="mim-tip-reference" title="de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M. <strong>Diagnostic exome sequencing in persons with severe intellectual disability.</strong> New Eng. J. Med. 367: 1921-1929, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23033978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23033978</a>] [<a href="https://doi.org/10.1056/NEJMoa1206524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23033978">de Ligt et al. (2012)</a> identified a de novo heterozygous c.320A-G transition in the ALG13 gene, resulting in an asn107-to-ser (N107S) substitution. The patient was ascertained from a larger cohort of 100 patients with severe intellectual disability who underwent exome sequencing. The patient also carried a de novo heterozygous E89K variant in the KRT32 gene (<a href="/entry/602760">602760</a>) that was not thought to be pathogenic. The patient was born at 34 weeks' gestation and showed neonatal feeding problems, hypotonia, seizures, and severely delayed psychomotor development. She had a large head circumference (greater than 2.5 SD), and brain MRI showed hydrocephalus, myelination delay, and wide sulci. Other features included self-mutilation, sleep disturbance, and dysmorphic features, such as hypertelorism, broad coarse face, low-set ears, mild retromicrognathia, small hands and feet, joint contractures, and scoliosis. Isoelectric focusing of serum transferrin was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23033978" 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>The <a href="#7" class="mim-tip-reference" title="Epi4K Consortium and Epilepsy Phenome/Genome Project. <strong>De novo mutations in epileptic encephalopathies.</strong> Nature 501: 217-221, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23934111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23934111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23934111[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/10.1038/nature12439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23934111">Epi4K Consortium and Epilepsy Phenome/Genome Project (2013)</a> identified a de novo heterozygous N107S mutation in 2 unrelated girls (trios ij and dg) with early-onset epileptic encephalopathy. The patients were part of a larger cohort of 264 probands with epileptic encephalopathy who underwent exome sequencing. The patients had onset of seizures at ages 1 and 4 months, respectively. EEG showed hypsarrhythmia. Both showed severely delayed psychomotor development after the onset of seizures. A statistical likelihood analysis indicated that the probability of this finding occurring by chance was p = 7.8 x 10(-12). Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23934111" 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="#15" class="mim-tip-reference" title="Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., Mefford, H. C., Rouleau, G. A., Rossignol, E. <strong>The genetic landscape of infantile spasms.</strong> Hum. Molec. Genet. 23: 4846-4858, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781210</a>] [<a href="https://doi.org/10.1093/hmg/ddu199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24781210">Michaud et al. (2014)</a> identified a de novo heterozygous N107S mutation (c.320A-G, NM_001099922.2) in the ALG13 gene in a girl with DEE36. The mutation was found by whole-exome sequencing. Functional studies of the variant were not performed. The girl also had a heterozygous 9p24.2 deletion inherited from her unaffected mother that was predicted to be benign. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24781210" 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="#17" class="mim-tip-reference" title="Smith-Packard, B., Myers, S. M., Williams, M. S. <strong>Girls with seizures due to the c.320A-G variant in ALG13 do not show abnormal glycosylation pattern on standard testing.</strong> JIMD Rep. 22: 95-98, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25732998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25732998</a>] [<a href="https://doi.org/10.1007/8904_2015_416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25732998">Smith-Packard et al. (2015)</a> reported a 7-year-old girl with DEE36 who carried a de novo heterozygous N107S mutation identified by whole-genome sequencing. The patient had normal glycosylation of serum transferrin. Functional studies of the variant and studies of patient cells were not performed; however, the authors noted that the mutation occurs at a highly conserved residue within a loop deep inside the protein in a presumed functional domain, and thus may impact the catalytic activity. She presented at 8 months of age with infantile spasms associated with hypsarrhythmia on EEG. She had severe cognitive impairment with limited speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25732998" 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="#6" class="mim-tip-reference" title="Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., and 9 others. <strong>Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.</strong> Clin. Genet. 89: 198-204, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26138355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26138355</a>] [<a href="https://doi.org/10.1111/cge.12636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26138355">Dimassi et al. (2016)</a> identified a de novo heterozygous N107S mutation in a 6-year-old girl with DEE36. The mutation was found by whole-exome sequencing of 10 parent-child trios. The patient had normal glycosylation of serum transferrin. The mutation was not reported in the ExAC database; functional studies of the variant were not performed. At 2 months of age, the patient developed infantile spasms associated with hypsarrhythmia on EEG and thereafter showed severely delayed psychomotor development with inability to sit and limited eye contact. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26138355" 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="#16" class="mim-tip-reference" title="Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others. <strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong> J. Inherit. Metab. Dis. 43: 1333-1348, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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/10.1002/jimd.12290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32681751">Ng et al. (2020)</a> identified a de novo heterozygous N107S mutation in the ALG13 gene in 23 patients who underwent next-generation sequencing. Clinical details were consistent with DEE36 and a diagnosis of early-onset seizures with West syndrome. All but 1 were female: the 1 male patient with the mutation (CDG-0083) had a phenotype consistent with DEE36. <a href="#16" class="mim-tip-reference" title="Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others. <strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong> J. Inherit. Metab. Dis. 43: 1333-1348, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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/10.1002/jimd.12290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32681751">Ng et al. (2020)</a> noted that the N107S variant is not present in the gnomAD database. In vitro studies in alg13-null yeast showed that the N107S variant could restore a growth defect, but was unable to restore abnormal glycosylation of carboxypeptidase Y (CPY). The findings suggested that these mutations affect alg13 function in yeast. None of the patients tested showed evidence of a glycosylation defect, although 1 patient (CDG-1017) had mild and transient abnormalities that later resolved to normal. The patients had onset of infantile spasms at a mean age of 6.5 months; most had hypsarrhythmia on EEG, consistent with West syndrome. All had global developmental delay with impaired intellectual development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32681751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2-year-old Emirati girl with DEE36, <a href="#12" class="mim-tip-reference" title="Hamici, S., Bastaki, F., Khalifa, M. <strong>Exome sequence identified a c.320A-G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: review of the literature.</strong> Europ. J. Med. Genet. 60: 541-547, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28778787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28778787</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.07.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28778787">Hamici et al. (2017)</a> identified heterozygosity for the N107S mutation in the ALG13 gene. The de novo mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. X-chromosome inactivation studies in the patient's leukocytes showed a random pattern of X-chromosome inactivation. The patient had severe infantile epileptic encephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28778787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3.5-month-old boy with DEE36, <a href="#10" class="mim-tip-reference" title="Galama, W. H., Verhaagen-van den Akker, S. L. J., Lefeber, D. J., Feenstra, I., Verrups, A. <strong>ALG13-CDG with infantile spasm in a male patient due to a de novo ALG13 gene mutation.</strong> JIMD Rep. 40: 11-16, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28887793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28887793</a>] [<a href="https://doi.org/10.1007/8904_2017_53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28887793">Galama et al. (2018)</a> identified heterozygosity for the N107S mutation in the ALG13 gene. The de novo mutation was identified by whole-exome sequencing. This patient was the first male with DEE36 to be identified with the N107S mutation in the ALG13 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28887793" 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">rs397518473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397518473;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=rs397518473" 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=rs397518473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to focal segmental glomerulosclerosis (FSGS; see <a href="/entry/603278">603278</a>) has not been confirmed.</p><p><a href="#8" class="mim-tip-reference" title="Esposito, T., Lea, R. A., Maher, B. H., Moses, D., Cox, H. C., Magliocca, S., Angius, A., Nyholt, D. R., Titus, T., Kay, T., Gray, N. A., Rastaldi, M. P., Parnham, A., Gianfrancesco, F., Griffiths, L. R. <strong>Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.</strong> Hum. Molec. Genet. 22: 3654-3666, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23686279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23686279</a>] [<a href="https://doi.org/10.1093/hmg/ddt215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23686279">Esposito et al. (2013)</a> reported a large 6-generation Australian family in which 12 males had focal segmental glomerulosclerosis resulting in progressive renal failure. The pattern was consistent with X-linked recessive inheritance, although some carrier females had proteinuria or preeclampsia. Six of the males with FSGS also had a progressive cardiac conduction disorder, necessitating a pacemaker in 5 patients. Linkage analysis for FSGS identified a 21.19-cM candidate disease interval on chromosome Xq21.33-q24 between DXS8077 and DXS8064 (lod score of 3.32 at DXS1106). Whole-exome sequencing of 2 affected males identified 2 variants in 2 different genes: an R113W substitution in the NXF5 gene (<a href="/entry/300319#0001">300319.0001</a>), and an AC-TT change at nucleotides 421 and 422 in exon 6 of the ALG13 gene. The variants were not found in the 1000 Genomes Project database, in 6 in-house control exomes, or in 598 control chromosomes, and Sanger sequencing showed that both variants segregated with the disorder in the family. Both variants were on the same haplotype. The mutant ALG13 mRNA was detected in cells from both male and female mutation carriers. The AC-TT change in the ALG13 gene change occurs in an intronic region in the long isoform 1 and causes a thr141-to-leu (T141L) substitution in exon 6 of isoform 2 and an asn121-to-ile (N121I) substitution in exon 6 of isoform 3. In vitro functional expression studies showed no difference in expression or subcellular localization for the T141L mutant protein, suggesting that the variant may not have a pathogenic effect. However, <a href="#8" class="mim-tip-reference" title="Esposito, T., Lea, R. A., Maher, B. H., Moses, D., Cox, H. C., Magliocca, S., Angius, A., Nyholt, D. R., Titus, T., Kay, T., Gray, N. A., Rastaldi, M. P., Parnham, A., Gianfrancesco, F., Griffiths, L. R. <strong>Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.</strong> Hum. Molec. Genet. 22: 3654-3666, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23686279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23686279</a>] [<a href="https://doi.org/10.1093/hmg/ddt215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23686279">Esposito et al. (2013)</a> could not rule out a small effect of T141L or N121I on the disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23686279" 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">rs1064796372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064796372;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=rs1064796372" 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=rs1064796372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 unrelated female patients (CDG-0085, CDG-0089, and CDG-0417) with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#16" class="mim-tip-reference" title="Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others. <strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong> J. Inherit. Metab. Dis. 43: 1333-1348, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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/10.1002/jimd.12290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32681751">Ng et al. (2020)</a> identified a de novo heterozygous c.241G-A transition in the ALG13 gene, resulting in an ala81-to-thr (A81T) substitution at a conserved residue close to the UDP-GlcNAc substrate-binding site. The mutation, which was found by next-generation sequencing, was not present in the gnomAD database. Western blot analysis of patient fibroblasts showed normal levels of the mutant protein. In vitro studies in alg13-null yeast showed that the A81T variant could restore the growth defect, but was unable to restore abnormal glycosylation of CPY. The findings suggested that the mutation affected alg13 function in yeast. Two patients had onset of infantile spasms at 1 month of age, and the third had onset at 9 months of age. Patient CDG-0417 had transient evidence of a mild type I glycosylation defect, but this later resolved and showed normal results. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32681751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female patient with DEE36, <a href="#1" class="mim-tip-reference" title="Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others. <strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong> J. Inherit. Metab. Dis. 44: 1001-1012, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33734437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33734437</a>] [<a href="https://doi.org/10.1002/jimd.12378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33734437">Alsharhan et al. (2021)</a> identified a de novo heterozygous A81T mutation in the ALG13 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33734437" 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">rs1945385727 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1945385727;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=rs1945385727" 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=rs1945385727" 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 6-year-old Afro-Caribbean male (patient 1) with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#1" class="mim-tip-reference" title="Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others. <strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong> J. Inherit. Metab. Dis. 44: 1001-1012, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33734437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33734437</a>] [<a href="https://doi.org/10.1002/jimd.12378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33734437">Alsharhan et al. (2021)</a> identified a heterozygous c.3013C-T transition in the ALG13 gene, resulting in a pro100-to-ser (P100S) substitution. The mutation was also identified in the mother. The mutation was not present in the gnomAD database. Semiquantitative plasma N-glycan analysis using ESI-QTOF mass spectrometry demonstrated mild increases in some small high-mannose glycans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33734437" 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> rs770762084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770762084;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/rs770762084?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=rs770762084" 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=rs770762084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 8-year-old Afro-Caribbean male (patient 2) with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#1" class="mim-tip-reference" title="Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others. <strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong> J. Inherit. Metab. Dis. 44: 1001-1012, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33734437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33734437</a>] [<a href="https://doi.org/10.1002/jimd.12378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33734437">Alsharhan et al. (2021)</a> identified a heterozygous deletion (c.2458-15_2486del) in the ALG13 gene that was predicted to result in a splicing abnormality. The mutation was also identified in the mother. Carbohydrate-deficient transferrin analysis demonstrated a type I pattern. Semiquantitative plasma N-glycan analysis using ESI-QTOF mass spectrometry demonstrated mild increases in some small high-mannose glycans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33734437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a boy with developmental and epileptic encephalopathy-36 (DEE36; <a href="/entry/300884">300884</a>), <a href="#9" class="mim-tip-reference" title="Gadomski, T. E., Bolton, M., Alfadhel, M., Dvorak, C., Ogunsakin, O. A., Nelson, S. L., Morava, E. <strong>ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.</strong> Am. J. Med. Genet. 173A: 2772-2775, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777499</a>] [<a href="https://doi.org/10.1002/ajmg.a.38377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28777499">Gadomski et al. (2017)</a> identified hemizygosity for a c.1388A-G transition in exon 12 of the ALG13 gene, resulting in a glu463-to-gly (E463G) substitution at a conserved residue. The mutation, which was found by sequencing of a comprehensive expanded epilepsy gene panel, was present in heterozygous state in the unaffected mother. The variant was not reported in 13,100 individuals of European or African American ancestry in the NHLBI Exome Sequencing Project database. ICAM1 (<a href="/entry/147840">147840</a>) protein expression was reduced in patient fibroblasts, but transferrin isoelectric focusing and mass spectrometry analysis for glycan isoforms were normal in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777499" 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>REFERENCES</strong>
|
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</span>
|
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</h4>
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|
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|
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|
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Alsharhan2021" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others.
|
|
<strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong>
|
|
J. Inherit. Metab. Dis. 44: 1001-1012, 2021.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33734437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33734437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33734437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/jimd.12378" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Averbeck2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Averbeck, N., Keppler-Ross, S., Dean, N.
|
|
<strong>Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.</strong>
|
|
J. Biol. Chem. 282: 29081-29088, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17686769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17686769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17686769" 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.M704410200" target="_blank">Full Text</a>]
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bastaki2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bastaki, F., Bizzari, S., Hamici, S., Nair, P., Mohamed, M., Saif, F., Malik, E. M., Al-Ali, M. T., Hamzeh, A. R.
|
|
<strong>Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases on Arabs.</strong>
|
|
Ann. Hum. Genet. 82: 35-47, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28940310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28940310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28940310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/ahg.12220" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bissar-Tadmouri2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bissar-Tadmouri, N., Donahue, W. L., Al-Gazali, L., Nelson, S. F., Bayrak-Toydemir, P., Kantarci, S.
|
|
<strong>X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.</strong>
|
|
Am. J. Med. Genet. 164A: 164-169, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24501762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24501762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24501762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1002/ajmg.a.36233" target="_blank">Full Text</a>]
|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="de Ligt2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M.
|
|
<strong>Diagnostic exome sequencing in persons with severe intellectual disability.</strong>
|
|
New Eng. J. Med. 367: 1921-1929, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23033978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23033978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23033978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa1206524" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Dimassi2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., and 9 others.
|
|
<strong>Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.</strong>
|
|
Clin. Genet. 89: 198-204, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26138355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26138355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26138355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/cge.12636" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="{Epi4K Consortium and Epilepsy Phenome/Genome Project}2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Epi4K Consortium and Epilepsy Phenome/Genome Project.
|
|
<strong>De novo mutations in epileptic encephalopathies.</strong>
|
|
Nature 501: 217-221, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23934111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23934111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23934111[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=23934111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1038/nature12439" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Esposito2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Esposito, T., Lea, R. A., Maher, B. H., Moses, D., Cox, H. C., Magliocca, S., Angius, A., Nyholt, D. R., Titus, T., Kay, T., Gray, N. A., Rastaldi, M. P., Parnham, A., Gianfrancesco, F., Griffiths, L. R.
|
|
<strong>Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.</strong>
|
|
Hum. Molec. Genet. 22: 3654-3666, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23686279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23686279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23686279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1093/hmg/ddt215" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Gadomski2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gadomski, T. E., Bolton, M., Alfadhel, M., Dvorak, C., Ogunsakin, O. A., Nelson, S. L., Morava, E.
|
|
<strong>ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.</strong>
|
|
Am. J. Med. Genet. 173A: 2772-2775, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28777499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28777499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28777499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.38377" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Galama2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Galama, W. H., Verhaagen-van den Akker, S. L. J., Lefeber, D. J., Feenstra, I., Verrups, A.
|
|
<strong>ALG13-CDG with infantile spasm in a male patient due to a de novo ALG13 gene mutation.</strong>
|
|
JIMD Rep. 40: 11-16, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28887793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28887793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28887793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/8904_2017_53" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gao2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N.
|
|
<strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong>
|
|
J. Biol. Chem. 280: 36254-36262, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16100110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16100110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16100110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M507569200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Hamici2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamici, S., Bastaki, F., Khalifa, M.
|
|
<strong>Exome sequence identified a c.320A-G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: review of the literature.</strong>
|
|
Europ. J. Med. Genet. 60: 541-547, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28778787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28778787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28778787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ejmg.2017.07.014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Hamosh2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamosh, A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. November 29, 2016.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Hino-Fukuyo2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hino-Fukuyo, N., Kikuchi, A. Arai-Ichinoi, N., Niihori, T., Sato, R., Suzuki, T., Kudo, H., Sato, Y., Nakayama, T., Kakisaka, Y., Kubota, Y., Kobayashi, T., Funayama, R., Nakayama, K., Uematsu, M., Aoki, Y., Haginoya, K., Kure, S.
|
|
<strong>Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome</strong>
|
|
Hum. Genet. 134: 649-658, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25877686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25877686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25877686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-015-1553-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Michaud2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., Mefford, H. C., Rouleau, G. A., Rossignol, E.
|
|
<strong>The genetic landscape of infantile spasms.</strong>
|
|
Hum. Molec. Genet. 23: 4846-4858, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24781210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24781210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24781210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddu199" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Ng2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others.
|
|
<strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong>
|
|
J. Inherit. Metab. Dis. 43: 1333-1348, 2020.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32681751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32681751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32681751[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=32681751" 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/jimd.12290" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Smith-Packard2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith-Packard, B., Myers, S. M., Williams, M. S.
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<strong>Girls with seizures due to the c.320A-G variant in ALG13 do not show abnormal glycosylation pattern on standard testing.</strong>
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JIMD Rep. 22: 95-98, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25732998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25732998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25732998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/8904_2015_416" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Stumpf2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/27/2020.
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</p>
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<a id="19" class="mim-anchor"></a>
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<a id="Timal2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J.
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<strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong>
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Hum. Molec. Genet. 21: 4151-4161, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds123" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 08/26/2022
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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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Hilary J. Vernon - updated : 04/01/2022<br>Carol A. Bocchini - updated : 03/04/2022<br>Anne M. Stumpf - updated : 10/27/2020<br>Cassandra L. Kniffin - updated : 10/22/2020<br>Cassandra L. Kniffin - updated : 11/29/2016<br>Cassandra L. Kniffin - updated : 3/11/2016<br>Cassandra L. Kniffin - updated : 11/6/2013<br>Cassandra L. Kniffin - updated : 10/8/2013<br>Cassandra L. Kniffin - updated : 11/8/2012
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<a id="creationDate" 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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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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Dorothy S. Reilly : 6/18/2009
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/11/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 08/29/2022<br>carol : 08/26/2022<br>carol : 04/02/2022<br>carol : 04/01/2022<br>carol : 03/07/2022<br>carol : 03/04/2022<br>alopez : 02/03/2021<br>alopez : 10/27/2020<br>ckniffin : 10/22/2020<br>carol : 12/16/2019<br>carol : 11/29/2016<br>ckniffin : 11/29/2016<br>carol : 10/12/2016<br>carol : 03/11/2016<br>ckniffin : 3/11/2016<br>carol : 11/7/2013<br>ckniffin : 11/6/2013<br>carol : 10/10/2013<br>ckniffin : 10/8/2013<br>carol : 11/8/2012<br>ckniffin : 11/8/2012<br>wwang : 6/19/2009<br>wwang : 6/19/2009
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</span>
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<span class="mim-font">
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<strong>*</strong> 300776
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<h3>
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<span class="mim-font">
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ALG13 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT; ALG13
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</h3>
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</div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ALG13, S. CEREVISIAE, HOMOLOG OF<br />
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ASPARAGINE-LINKED GLYCOSYLATION 13, S. CEREVISIAE, HOMOLOG OF<br />
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GLYCOSYLTRANSFERASE 28 DOMAIN-CONTAINING 1; GLT28D1
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</span>
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALG13</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 733451007;
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<strong>
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<em>
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Cytogenetic location: Xq23
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Genomic coordinates <span class="small">(GRCh38)</span> : X:111,681,170-111,760,649 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</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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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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Xq23
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<td>
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<span class="mim-font">
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Developmental and epileptic encephalopathy 36
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<span class="mim-font">
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300884
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<span class="mim-font">
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X-linked
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<td>
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<span class="mim-font">
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3
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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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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (612866) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (summary by Averbeck et al., 2007). </p>
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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 class="mim-text-font">
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<p>By database analysis, followed by PCR of human whole brain cDNA, Gao et al. (2005) cloned ALG13. The deduced 161-amino acid protein has a calculated molecular mass of 18.2 kD and shares 28% sequence identity with yeast Alg13. Alg13 contains a predicted catalytic domain but lacks a membrane-spanning domain. Fluorescence microscopy and subcellular fractionation studies localized the S. cerevisiae Alg13 protein to the endoplasmic reticulum membrane. </p><p>There are multiple isoforms of the ALG13 gene. Using RT-PCR, Esposito et al. (2013) found expression of 3 isoforms in human ovary, kidney, pancreas, brain, testis, lung, and heart. The short isoforms 2 and 3 also showed high expression in liver and low expression in muscle. Mouse Alg13 was expressed in the mouse podocyte. </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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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Gao et al. (2005) used coimmunoprecipitation studies to demonstrate interaction between S. cerevisiae Alg13 and Alg14 proteins. By individual and joint overexpression of Alg13 and Alg14, followed by cell localization studies, they showed that localization of Alg13 to the ER membrane is dependent upon its association with Alg14, and that increasing Alg14 levels to match those of Alg13 restored Alg13 localization to the ER. Gao et al. (2005) concluded that Alg13 recruitment to the ER is mediated by Alg14. Human ALG13 and ALG14 each functionally complemented the corresponding Alg13 and Alg14 mutants in S. cerevisiae to partially restore the defective glycosylation phenotype. Gao et al. (2005) suggested that the human ALG13 and ALG14 proteins interact with each other to form a functional UDP-GlcNAc transferase. </p><p>Using functional analysis of S. cerevisiae Alg13/Alg14 chimeras and in vitro protease protection assays, Averbeck et al. (2007) concluded that Alg13 and Alg14 comprise a novel bipartite UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition in the synthesis of the dolichol-linked oligosaccharide precursor in N-linked glycosylation. Alg14 is a membrane protein that recruits the soluble Alg13 catalytic subunit from the cytosol to the face of the ER membrane where the reaction occurs. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stumpf (2020) mapped the ALG13 gene to chromosome Xq23 based on an alignment of the ALG13 sequence (GenBank BC117379) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Developmental and Epileptic Encephalopathy 36</em></strong></p><p>
|
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In a 10-year-old girl (trio 37) with developmental and epileptic encephalopathy-36 (DEE36; 300884), de Ligt et al. (2012) identified a de novo heterozygous missense mutation in the ALG13 gene (N107S; 300776.0002). The patient was ascertained from a larger cohort of 100 patients with severe intellectual disability who underwent exome sequencing. The patient also carried a de novo heterozygous E89K variant in the KRT32 gene (602760) that was not thought to be pathogenic. The Epi4K Consortium and Epilepsy Phenome/Genome Project (2013) identified a de novo heterozygous N107S mutation in 2 unrelated girls with DEE36. The patients were part of a larger cohort of 264 probands with epileptic encephalopathy who underwent exome sequencing. Isoelectric focusing of serum transferrin was not reported in the girls with the N107S mutation. Functional studies of the variant were not performed. </p><p>In a Caucasian boy with DEE36 who died at age 1 year, Timal et al. (2012) identified a hemizygous missense mutation in the ALG13 gene (K94E; 300776.0001). The mutation was identified by exome sequencing and confirmed by Sanger sequencing. Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype. The patient was 1 of 6 patients with unsolved CDG type I from unrelated families who underwent whole-exome sequencing. </p><p>Michaud et al. (2014) identified a de novo heterozygous N107S mutation in the ALG13 gene in a girl with DEE36. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed. The girl also had a heterozygous 9p24.2 deletion inherited from her unaffected mother that was predicted to be benign. Michaud et al. (2014) postulated that ALG13 mutations in girls may represent either a dominant-negative or a gain-of-function effect. </p><p>Dimassi et al. (2016) identified a de novo heterozygous N107S mutation in a 6-year-old girl with DEE36. Functional studies of the variant were not performed. </p><p>In a female infant with DEE36, Bastaki et al. (2018) identified heterozygosity for the N107S mutation in the ALG13 gene. </p><p>Ng et al. (2020) reported 29 individuals with de novo heterozygous or hemizygous mutations in the ALG13 gene who were identified through next-generation sequencing. Two recurrent mutations accounted for the majority: N107S, found in 23 of 29 (79%) patients, and A81T (300776.0004), found in 3 (10%) individuals. Clinical details, available for 26 patients, were consistent with DEE36 and a diagnosis of early-onset seizures with West syndrome. There were only 2 males in the cohort. One (CDG-0083) had a hemizygous N107S mutation and a phenotype consistent with DEE36. The other (CDG-0101) had a de novo G972V mutation that was not present in the gnomAD database; clinical details were limited and he was noted to be mosaic for the mutation. All 14 patients tested had normal transferrin glycosylation. Two patients had mildly abnormal glycosylation studies consistent with a type I defect, but both had resolution of these biochemical abnormalities, which were later in the normal range. In vitro studies in alg13-null yeast showed that both the N107S and A81T variants could restore a growth defect, but were unable to restore abnormal glycosylation of carboxypeptidase Y (CPY). The findings suggested that these mutations affect alg13 function in yeast. Noting that the function of ALG13 in humans remains unclear, Ng et al. (2020) speculated that the heterozygous or hemizygous ALG13 mutations found in patients likely cause a gain-of-function effect with tissue-specific manifestations. </p><p>Hamici et al. (2017) identified heterozygosity for the recurrent N107S mutation in the ALG13 gene in a 2-year-old Emirati girl with DEE36. X-chromosome inactivation studies in the patient's leukocytes showed a random pattern of X-chromosome inactivation. </p><p>Galama et al. (2018) identified heterozygosity for the N107S mutation in the ALG13 gene in a 3.5-month-old boy with DEE36. </p><p>Alsharhan et al. (2021) identified heterozygous mutations in the ALG13 gene in 11 patients (3 males and 8 females) with DEE36. In the 3 male patients, the mutation was inherited from the patient's mother (P100S, 300776.0005; c.2458-15_2486del, 300776.0006; and V758F), although the V758F was considered to be a variant of unknown significance because a patient sample was not available for glycosylation analysis. All of the female patients had de novo mutations, 6 with N107S, 1 with A81T (300776.0004), and 1 with G972V. </p><p>In a boy with DEE36, Gadomski et al. (2017) identified hemizygosity for a missense mutation in the ALG13 gene (E463G; 300776.0007). The mutation, which was found by sequencing of a comprehensive expanded epilepsy gene panel, was also identified in heterozygous state in his asymptomatic mother. ICAM1 (147840) protein expression was reduced in patient fibroblasts. Adding galactose to the patient's fibroblasts in vitro increased ICAM1 expression. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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See 300776.0003 for discussion of a possible association of focal segmental glomerulosclerosis (FSGS; see 603278) with mutation in the ALG13 gene.</p><p>In 4 brothers, born of unrelated Arab parents, with nonsyndromic X-linked mental retardation, Bissar-Tadmouri et al. (2014) identified a hemizygous c.3221A-G transition (NM_001099922.2) in the ALG13 gene, resulting in a tyr1074-to-cys (Y1074C) substitution at a residue conserved in higher vertebrates. The variant, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family; the unaffected mother was heterozygous for the variant. The variant was not found in the dbSNP or 1000 Genomes Project databases or in 65 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. Brain imaging was normal and none of the boys had congenital malformations or facial dysmorphisms. N-glycosylation studies could not be performed. Hamosh (2016) noted that on November 29, 2016 the ExAC database listed the Y1074C variant as occurring in 32 hemizygous males of South Asian descent, suggesting that the variant is not pathogenic. </p><p>In a Japanese boy with early-onset epileptic encephalopathy, severe intellectual disability, optic atrophy, and septooptic dysplasia, Hino-Fukuyo et al. (2015) identified a hemizygous c.880C-T transition (NM_001099922) in the ALG13 gene, resulting in a pro294-to-ser (P294S) substitution. The mutation, which was found by whole-exome sequencing, was inherited from the unaffected mother. Hamosh (2016) noted that on November 29, 2016 the ExAC database listed the P294S variant as occurring in 3 hemizygous males of East Asian descent, suggesting that the variant is not pathogenic (Hamosh, 2016). </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<span class="mim-font">
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<strong>.0001 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</strong>
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</span>
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</h4>
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ALG13, LYS94GLU
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SNP: rs867599353,
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ClinVar: RCV000032994
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<p>In a Caucasian boy with developmental and epileptic encephalopathy-36 (DEE36; 300884), Timal et al. (2012) identified a hemizygous c.280A-G transition (c.280A-G, NM_001099922.2) in the ALG13 gene, resulting in a lys94-to-glu (K94E) substitution at a highly conserved residue in the C-terminal glycosyltransferase domain. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the blood of the mother, but was present on the maternally inherited allele, suggesting either maternal germline mosaicism or a de novo event. The patient had refractory epilepsy, hepatomegaly, recurrent infections, increased bleeding tendency, microcephaly, horizontal nystagmus, bilateral optic nerve atrophy, and extrapyramidal and pyramidal signs. He died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of a congenital disorder of glycosylation. Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ALG13, ASN107SER ({dbSNP rs39812239})
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<br />
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SNP: rs398122394,
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ClinVar: RCV000056321, RCV000289979, RCV001249505, RCV001256982, RCV001263094, RCV001849307, RCV002321552, RCV003925015
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<span class="mim-text-font">
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<p>In a 10-year-old girl with developmental and epileptic encephalopathy-36 (DEE36; 300884), de Ligt et al. (2012) identified a de novo heterozygous c.320A-G transition in the ALG13 gene, resulting in an asn107-to-ser (N107S) substitution. The patient was ascertained from a larger cohort of 100 patients with severe intellectual disability who underwent exome sequencing. The patient also carried a de novo heterozygous E89K variant in the KRT32 gene (602760) that was not thought to be pathogenic. The patient was born at 34 weeks' gestation and showed neonatal feeding problems, hypotonia, seizures, and severely delayed psychomotor development. She had a large head circumference (greater than 2.5 SD), and brain MRI showed hydrocephalus, myelination delay, and wide sulci. Other features included self-mutilation, sleep disturbance, and dysmorphic features, such as hypertelorism, broad coarse face, low-set ears, mild retromicrognathia, small hands and feet, joint contractures, and scoliosis. Isoelectric focusing of serum transferrin was not performed. </p><p>The Epi4K Consortium and Epilepsy Phenome/Genome Project (2013) identified a de novo heterozygous N107S mutation in 2 unrelated girls (trios ij and dg) with early-onset epileptic encephalopathy. The patients were part of a larger cohort of 264 probands with epileptic encephalopathy who underwent exome sequencing. The patients had onset of seizures at ages 1 and 4 months, respectively. EEG showed hypsarrhythmia. Both showed severely delayed psychomotor development after the onset of seizures. A statistical likelihood analysis indicated that the probability of this finding occurring by chance was p = 7.8 x 10(-12). Functional studies were not performed. </p><p>Michaud et al. (2014) identified a de novo heterozygous N107S mutation (c.320A-G, NM_001099922.2) in the ALG13 gene in a girl with DEE36. The mutation was found by whole-exome sequencing. Functional studies of the variant were not performed. The girl also had a heterozygous 9p24.2 deletion inherited from her unaffected mother that was predicted to be benign. </p><p>Smith-Packard et al. (2015) reported a 7-year-old girl with DEE36 who carried a de novo heterozygous N107S mutation identified by whole-genome sequencing. The patient had normal glycosylation of serum transferrin. Functional studies of the variant and studies of patient cells were not performed; however, the authors noted that the mutation occurs at a highly conserved residue within a loop deep inside the protein in a presumed functional domain, and thus may impact the catalytic activity. She presented at 8 months of age with infantile spasms associated with hypsarrhythmia on EEG. She had severe cognitive impairment with limited speech. </p><p>Dimassi et al. (2016) identified a de novo heterozygous N107S mutation in a 6-year-old girl with DEE36. The mutation was found by whole-exome sequencing of 10 parent-child trios. The patient had normal glycosylation of serum transferrin. The mutation was not reported in the ExAC database; functional studies of the variant were not performed. At 2 months of age, the patient developed infantile spasms associated with hypsarrhythmia on EEG and thereafter showed severely delayed psychomotor development with inability to sit and limited eye contact. </p><p>Ng et al. (2020) identified a de novo heterozygous N107S mutation in the ALG13 gene in 23 patients who underwent next-generation sequencing. Clinical details were consistent with DEE36 and a diagnosis of early-onset seizures with West syndrome. All but 1 were female: the 1 male patient with the mutation (CDG-0083) had a phenotype consistent with DEE36. Ng et al. (2020) noted that the N107S variant is not present in the gnomAD database. In vitro studies in alg13-null yeast showed that the N107S variant could restore a growth defect, but was unable to restore abnormal glycosylation of carboxypeptidase Y (CPY). The findings suggested that these mutations affect alg13 function in yeast. None of the patients tested showed evidence of a glycosylation defect, although 1 patient (CDG-1017) had mild and transient abnormalities that later resolved to normal. The patients had onset of infantile spasms at a mean age of 6.5 months; most had hypsarrhythmia on EEG, consistent with West syndrome. All had global developmental delay with impaired intellectual development. </p><p>In a 2-year-old Emirati girl with DEE36, Hamici et al. (2017) identified heterozygosity for the N107S mutation in the ALG13 gene. The de novo mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. X-chromosome inactivation studies in the patient's leukocytes showed a random pattern of X-chromosome inactivation. The patient had severe infantile epileptic encephalopathy. </p><p>In a 3.5-month-old boy with DEE36, Galama et al. (2018) identified heterozygosity for the N107S mutation in the ALG13 gene. The de novo mutation was identified by whole-exome sequencing. This patient was the first male with DEE36 to be identified with the N107S mutation in the ALG13 gene. </p>
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</span>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</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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ALG13, THR141LEU
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<br />
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SNP: rs397518473,
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ClinVar: RCV000074395
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<div>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to focal segmental glomerulosclerosis (FSGS; see 603278) has not been confirmed.</p><p>Esposito et al. (2013) reported a large 6-generation Australian family in which 12 males had focal segmental glomerulosclerosis resulting in progressive renal failure. The pattern was consistent with X-linked recessive inheritance, although some carrier females had proteinuria or preeclampsia. Six of the males with FSGS also had a progressive cardiac conduction disorder, necessitating a pacemaker in 5 patients. Linkage analysis for FSGS identified a 21.19-cM candidate disease interval on chromosome Xq21.33-q24 between DXS8077 and DXS8064 (lod score of 3.32 at DXS1106). Whole-exome sequencing of 2 affected males identified 2 variants in 2 different genes: an R113W substitution in the NXF5 gene (300319.0001), and an AC-TT change at nucleotides 421 and 422 in exon 6 of the ALG13 gene. The variants were not found in the 1000 Genomes Project database, in 6 in-house control exomes, or in 598 control chromosomes, and Sanger sequencing showed that both variants segregated with the disorder in the family. Both variants were on the same haplotype. The mutant ALG13 mRNA was detected in cells from both male and female mutation carriers. The AC-TT change in the ALG13 gene change occurs in an intronic region in the long isoform 1 and causes a thr141-to-leu (T141L) substitution in exon 6 of isoform 2 and an asn121-to-ile (N121I) substitution in exon 6 of isoform 3. In vitro functional expression studies showed no difference in expression or subcellular localization for the T141L mutant protein, suggesting that the variant may not have a pathogenic effect. However, Esposito et al. (2013) could not rule out a small effect of T141L or N121I on the disease phenotype. </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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<h4>
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<span class="mim-font">
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<strong>.0004 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</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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ALG13, ALA81THR
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<br />
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SNP: rs1064796372,
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ClinVar: RCV000481128, RCV001262121, RCV001849382
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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 3 unrelated female patients (CDG-0085, CDG-0089, and CDG-0417) with developmental and epileptic encephalopathy-36 (DEE36; 300884), Ng et al. (2020) identified a de novo heterozygous c.241G-A transition in the ALG13 gene, resulting in an ala81-to-thr (A81T) substitution at a conserved residue close to the UDP-GlcNAc substrate-binding site. The mutation, which was found by next-generation sequencing, was not present in the gnomAD database. Western blot analysis of patient fibroblasts showed normal levels of the mutant protein. In vitro studies in alg13-null yeast showed that the A81T variant could restore the growth defect, but was unable to restore abnormal glycosylation of CPY. The findings suggested that the mutation affected alg13 function in yeast. Two patients had onset of infantile spasms at 1 month of age, and the third had onset at 9 months of age. Patient CDG-0417 had transient evidence of a mild type I glycosylation defect, but this later resolved and showed normal results. </p><p>In a female patient with DEE36, Alsharhan et al. (2021) identified a de novo heterozygous A81T mutation in the ALG13 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</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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ALG13, PRO100SER
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<br />
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SNP: rs1945385727,
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ClinVar: RCV001849835, RCV002221292
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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 6-year-old Afro-Caribbean male (patient 1) with developmental and epileptic encephalopathy-36 (DEE36; 300884), Alsharhan et al. (2021) identified a heterozygous c.3013C-T transition in the ALG13 gene, resulting in a pro100-to-ser (P100S) substitution. The mutation was also identified in the mother. The mutation was not present in the gnomAD database. Semiquantitative plasma N-glycan analysis using ESI-QTOF mass spectrometry demonstrated mild increases in some small high-mannose glycans. </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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<h4>
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<span class="mim-font">
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<strong>.0006 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</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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ALG13, c.2458-15_2486del
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<br />
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SNP: rs770762084,
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gnomAD: rs770762084,
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ClinVar: RCV001849836, RCV001885423
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</span>
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<div>
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<span class="mim-text-font">
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<p>In an 8-year-old Afro-Caribbean male (patient 2) with developmental and epileptic encephalopathy-36 (DEE36; 300884), Alsharhan et al. (2021) identified a heterozygous deletion (c.2458-15_2486del) in the ALG13 gene that was predicted to result in a splicing abnormality. The mutation was also identified in the mother. Carbohydrate-deficient transferrin analysis demonstrated a type I pattern. Semiquantitative plasma N-glycan analysis using ESI-QTOF mass spectrometry demonstrated mild increases in some small high-mannose glycans. </p>
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</span>
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</div>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36</strong>
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</span>
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</h4>
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</div>
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ALG13, GLU463GLY
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SNP: rs184599884,
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gnomAD: rs184599884,
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ClinVar: RCV002064463
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<div>
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<span class="mim-text-font">
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<p>In a boy with developmental and epileptic encephalopathy-36 (DEE36; 300884), Gadomski et al. (2017) identified hemizygosity for a c.1388A-G transition in exon 12 of the ALG13 gene, resulting in a glu463-to-gly (E463G) substitution at a conserved residue. The mutation, which was found by sequencing of a comprehensive expanded epilepsy gene panel, was present in heterozygous state in the unaffected mother. The variant was not reported in 13,100 individuals of European or African American ancestry in the NHLBI Exome Sequencing Project database. ICAM1 (147840) protein expression was reduced in patient fibroblasts, but transferrin isoelectric focusing and mass spectrometry analysis for glycan isoforms were normal in the patient. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogne, B., and 14 others.
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<strong>ALG13 X-linked intellectual disability: new variants, glycosylation analysis, and expanded phenotypes.</strong>
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J. Inherit. Metab. Dis. 44: 1001-1012, 2021.
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[PubMed: 33734437]
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[Full Text: https://doi.org/10.1002/jimd.12378]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Averbeck, N., Keppler-Ross, S., Dean, N.
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<strong>Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.</strong>
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J. Biol. Chem. 282: 29081-29088, 2007.
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[PubMed: 17686769]
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[Full Text: https://doi.org/10.1074/jbc.M704410200]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bastaki, F., Bizzari, S., Hamici, S., Nair, P., Mohamed, M., Saif, F., Malik, E. M., Al-Ali, M. T., Hamzeh, A. R.
|
|
<strong>Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases on Arabs.</strong>
|
|
Ann. Hum. Genet. 82: 35-47, 2018.
|
|
|
|
|
|
[PubMed: 28940310]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/ahg.12220]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bissar-Tadmouri, N., Donahue, W. L., Al-Gazali, L., Nelson, S. F., Bayrak-Toydemir, P., Kantarci, S.
|
|
<strong>X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.</strong>
|
|
Am. J. Med. Genet. 164A: 164-169, 2014.
|
|
|
|
|
|
[PubMed: 24501762]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.36233]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M.
|
|
<strong>Diagnostic exome sequencing in persons with severe intellectual disability.</strong>
|
|
New Eng. J. Med. 367: 1921-1929, 2012.
|
|
|
|
|
|
[PubMed: 23033978]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1206524]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., and 9 others.
|
|
<strong>Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.</strong>
|
|
Clin. Genet. 89: 198-204, 2016.
|
|
|
|
|
|
[PubMed: 26138355]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.12636]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Epi4K Consortium and Epilepsy Phenome/Genome Project.
|
|
<strong>De novo mutations in epileptic encephalopathies.</strong>
|
|
Nature 501: 217-221, 2013.
|
|
|
|
|
|
[PubMed: 23934111]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature12439]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Esposito, T., Lea, R. A., Maher, B. H., Moses, D., Cox, H. C., Magliocca, S., Angius, A., Nyholt, D. R., Titus, T., Kay, T., Gray, N. A., Rastaldi, M. P., Parnham, A., Gianfrancesco, F., Griffiths, L. R.
|
|
<strong>Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.</strong>
|
|
Hum. Molec. Genet. 22: 3654-3666, 2013.
|
|
|
|
|
|
[PubMed: 23686279]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddt215]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gadomski, T. E., Bolton, M., Alfadhel, M., Dvorak, C., Ogunsakin, O. A., Nelson, S. L., Morava, E.
|
|
<strong>ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.</strong>
|
|
Am. J. Med. Genet. 173A: 2772-2775, 2017.
|
|
|
|
|
|
[PubMed: 28777499]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.38377]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Galama, W. H., Verhaagen-van den Akker, S. L. J., Lefeber, D. J., Feenstra, I., Verrups, A.
|
|
<strong>ALG13-CDG with infantile spasm in a male patient due to a de novo ALG13 gene mutation.</strong>
|
|
JIMD Rep. 40: 11-16, 2018.
|
|
|
|
|
|
[PubMed: 28887793]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/8904_2017_53]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gao, X.-D., Tachikawa, H., Sato, T., Jigami, Y., Dean, N.
|
|
<strong>Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.</strong>
|
|
J. Biol. Chem. 280: 36254-36262, 2005.
|
|
|
|
|
|
[PubMed: 16100110]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M507569200]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamici, S., Bastaki, F., Khalifa, M.
|
|
<strong>Exome sequence identified a c.320A-G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: review of the literature.</strong>
|
|
Europ. J. Med. Genet. 60: 541-547, 2017.
|
|
|
|
|
|
[PubMed: 28778787]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejmg.2017.07.014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamosh, A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. November 29, 2016.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hino-Fukuyo, N., Kikuchi, A. Arai-Ichinoi, N., Niihori, T., Sato, R., Suzuki, T., Kudo, H., Sato, Y., Nakayama, T., Kakisaka, Y., Kubota, Y., Kobayashi, T., Funayama, R., Nakayama, K., Uematsu, M., Aoki, Y., Haginoya, K., Kure, S.
|
|
<strong>Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome</strong>
|
|
Hum. Genet. 134: 649-658, 2015.
|
|
|
|
|
|
[PubMed: 25877686]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-015-1553-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., Lortie, A., Diadori, P., Major, P., Meijer, I. A., Lemyre, E., Cossette, P., Mefford, H. C., Rouleau, G. A., Rossignol, E.
|
|
<strong>The genetic landscape of infantile spasms.</strong>
|
|
Hum. Molec. Genet. 23: 4846-4858, 2014.
|
|
|
|
|
|
[PubMed: 24781210]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddu199]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M.-A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., and 42 others.
|
|
<strong>Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions.</strong>
|
|
J. Inherit. Metab. Dis. 43: 1333-1348, 2020.
|
|
|
|
|
|
[PubMed: 32681751]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/jimd.12290]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith-Packard, B., Myers, S. M., Williams, M. S.
|
|
<strong>Girls with seizures due to the c.320A-G variant in ALG13 do not show abnormal glycosylation pattern on standard testing.</strong>
|
|
JIMD Rep. 22: 95-98, 2015.
|
|
|
|
|
|
[PubMed: 25732998]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/8904_2015_416]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stumpf, A. M.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/27/2020.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J.
|
|
<strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong>
|
|
Hum. Molec. Genet. 21: 4151-4161, 2012.
|
|
|
|
|
|
[PubMed: 22492991]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/dds123]
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</p>
|
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</li>
|
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