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Entry
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- *606822 - PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606822</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</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/606822">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000085998;t=ENST00000371984" 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=55624" 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=606822" 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=ENSG00000085998;t=ENST00000371984" 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_001243766,NM_001290129,NM_001290130,NM_001410783,NM_017739,XM_005271010,XM_006710755,XM_006710756,XM_011541760,XM_017001690,XM_047424511" 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_017739" 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=606822" 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=09493&isoform_id=09493_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/POMGNT1" 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/7020261,10434295,12655225,14389448,16904640,37182306,57999409,119627337,119627338,119627339,119627340,119627341,221043822,221044026,221046186,311033411,530362931,578799427,578799429,767905088,1034559893,1812227248,1890258305,1890261342,1890261493,2217268974,2287478757,2462511126,2462511128,2462511130" 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/Q8WZA1" 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=55624" 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=ENSG00000085998;t=ENST00000371984" 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=POMGNT1" 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=POMGNT1" 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+55624" 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/POMGNT1" 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:55624" 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/55624" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000371984.8&hgg_start=46188683&hgg_end=46220305&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:19139" 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=606822[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=606822[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/POMGNT1/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/ENSG00000085998" 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=POMGNT1" 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=POMGNT1" 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=POMGNT1" 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/POMGNT1" 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=POMGNT1&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/PA142671161" 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:19139" 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://www.mousephenotype.org/data/genes/MGI:1915523" 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/POMGNT1#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:1915523" 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/55624/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=55624" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-991" 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:55624" 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=POMGNT1&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> 725043006<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>
|
|
606822
|
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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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PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=POMGNT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">POMGNT1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/565?start=-3&limit=10&highlight=565">1p34.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:46188683-46220305&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:46,188,683-46,220,305</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=253280,613151,613157,617123" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565">
|
|
1p34.1
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/253280"> 253280 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613151"> 613151 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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PheneGene Graphics <span class="caret"></span>
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<p>The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis by transferring N-acetylglucosamine residues to O-linked mannose. O-mannosyl glycan synthesis is essential for the proper functioning of dystroglycan (<a href="/entry/128239">128239</a>), the central element of the dystrophin-glycoprotein complex (DGC) (summary by <a href="#13" class="mim-tip-reference" title="Raducu, M., Baets, J., Fano, O., Van Coster, R., Cruces, J. <strong>Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.</strong> Europ. J. Hum. Genet. 20: 945-952, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419172[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/ejhg.2012.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419172">Raducu et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22419172" 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 searches for sequences with similarity to that of GlcNAc-TI (<a href="/entry/160995">160995</a>), followed by RT-PCR amplification of cDNA fragments from human brain RNA and 5-prime RACE, <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase. The POMGNT1 gene encodes a 660-amino acid type II transmembrane protein, with the region from phe38 to ile58 constituting a putative transmembrane domain. Northern blot analysis detected a 2.7-kb transcript in all 23 normal tissues tested, indicating that human POMGNT1 is constitutively expressed. An additional weaker 3.4-kb band was observed in spinal cord, lymph node, and trachea, suggesting the presence of 2 transcriptional initiation sites or alternative splicing in these tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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="#20" class="mim-tip-reference" title="Zhang, W., Betel, D., Schachter, H. <strong>Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.</strong> Biochem. J. 361: 153-162, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11742540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11742540</a>] [<a href="https://doi.org/10.1042/0264-6021:3610153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11742540">Zhang et al. (2002)</a> cloned human and mouse POMGNT1, which they termed GNTI.2. The human and mouse proteins share 99% identity over 620 residues. Northern blot analysis revealed wide expression of a 3.3-kb transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11742540" 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="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> performed immunohistochemistry on adult mouse retina cryosections and observed no expression in the nuclear or plexiform layers. However, there was clear expression in photoreceptor cells, with localization at the basal bodies and daughter centrioles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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>Binding and functional analyses by <a href="#20" class="mim-tip-reference" title="Zhang, W., Betel, D., Schachter, H. <strong>Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.</strong> Biochem. J. 361: 153-162, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11742540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11742540</a>] [<a href="https://doi.org/10.1042/0264-6021:3610153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11742540">Zhang et al. (2002)</a> indicated that GNTI.2 is specific for alpha-linked terminal Man and does not have MGAT3 (<a href="/entry/604621">604621</a>), MGAT4B (<a href="/entry/604561">604561</a>), MGAT5 (<a href="/entry/601774">601774</a>), MGAT7, or MGAT8 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11742540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Raducu, M., Baets, J., Fano, O., Van Coster, R., Cruces, J. <strong>Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.</strong> Europ. J. Hum. Genet. 20: 945-952, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419172[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/ejhg.2012.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419172">Raducu et al. (2012)</a> identified functional binding sites in the promoter region of the POMGNT1 gene for the transcription factors SP1 (<a href="/entry/189906">189906</a>), ETS1 (<a href="/entry/164720">164720</a>), and GATA (see, e.g., GATA1, <a href="/entry/305371">305371</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22419172" 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 genomic PCR analysis of a draft genomic sequence containing human POMGNT1 (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL360086" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL360086</a>), <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> determined that the gene is divided into 22 exons and that its coding region begins in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> noted that the presence of 2 sequence tagged sites in the UniSTS database suggested that the human POMGNT1 gene resides on 1p34-p33. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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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Mutation in the POMGNT1 gene can cause 3 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A3; MDDGA3, <a href="/entry/253280">253280</a>), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with impaired intellectual disability (type B3; MDDGB3; <a href="/entry/613151">613151</a>); and a milder limb-girdle form (type C3; MDDGC3; <a href="/entry/613157">613157</a>), also known as LGMDR15 and LGMD2O.</p><p><a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> identified 6 independent mutations of the POMGNT1 gene (<a href="#0001">606822.0001</a>-<a href="#0006">606822.0006</a>) in 6 patients with MEB (see <a href="/entry/253280">253280</a>). MEB is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly (resulting from a disorder of neuronal migration). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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="Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others. <strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong> Hum. Molec. Genet. 12: 527-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588800</a>] [<a href="https://doi.org/10.1093/hmg/ddg043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588800">Taniguchi et al. (2003)</a> identified 7 disease-causing mutations in the POMGNT1 gene (see, e.g., <a href="#0009">606822.0009</a>; <a href="#0011">606822.0011</a>) in 6 non-Finnish Caucasian, Japanese, and Korean patients with suspected MEB. One patient was initially diagnosed clinically as having Fukuyama congenital muscular dystrophy (FCMD; see MDDGA4, <a href="/entry/253800">253800</a>), and 2 as having 'atypical' or 'mild' Walker-Warburg syndrome. These 3 diseases are believed to be caused by a similar pathomechanism and thus show clinical overlap. The findings indicated that MEB exists in populations outside of Finland and that the clinical spectrum of MEB is broader than previously recognized. All of the patients with POMGNT1 mutations were still alive contrasting typical WWS, in which almost all patients die before 1 year of age. Mutations were dispersed throughout the entire POMGNT1 gene. A slight correlation was observed between location of the mutation and clinical severity in the brain: patients with mutations near the 5-prime terminus of the POMGNT1 coding region showed relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3-prime terminus had milder phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others. <strong>Molecular heterogeneity in fetal forms of type II lissencephaly.</strong> Hum. Mutat. 28: 1020-1027, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17559086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17559086</a>] [<a href="https://doi.org/10.1002/humu.20561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17559086">Bouchet et al. (2007)</a> identified mutations in the POMT1 gene (<a href="/entry/607423">607423</a>) in 13 (32%) of 41 families in which at least 1 fetus had severe type II lissencephaly consistent with Walker-Warburg syndrome or MEB. The minimum diagnostic criteria included hydrocephalus, agyria, thickened leptomeninges filled with neuroglial ectopia, disorganized cortical ribbon, and cerebellar dysplasia. Mutations in the POMGNT1 and POMT2 genes (<a href="/entry/607439">607439</a>) were identified in 6 (15%) and 3 (7%) families, respectively. Overall, mutations were identified in 22 of 41 families included in the study. Patients with POMGNT1 mutations had a relatively less severe phenotype. Definitive pathogenic mutations were not identified in the FKRP (<a href="/entry/606596">606596</a>), FKTN (<a href="/entry/607440">607440</a>), or LARGE (<a href="/entry/603590">603590</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17559086" 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="Hehr, U., Uyanik, G., Gross, C., Walter, M. C., Bohring, A., Cohen, M., Oehl-Jaschkowitz, B., Bird, L. M., Shamdeen, G. M., Bogdahn, U., Schuierer, G., Topaloglu, H., Aigner, L., Lochmuller, H., Winkler, J. <strong>Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.</strong> Neurogenetics 8: 279-288, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17906881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17906881</a>] [<a href="https://doi.org/10.1007/s10048-007-0096-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17906881">Hehr et al. (2007)</a> identified 9 POMGNT1 mutations, including 6 novel mutations, in 9 MEB patients from 8 unrelated families of various ethnic origins. The authors noted that 34 different POMGNT1 mutations had been identified in MEB patients; most are predicted to result in complete loss of enzyme activity. The data suggest mutation hotspots within the minimal catalytic domain at arg442 in exon 16, and in intron 17. No genotype-phenotype correlations were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17906881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Irish girl with limb-girdle muscular dystrophy and normal intellect (MDDGC3; <a href="/entry/613157">613157</a>), <a href="#3" class="mim-tip-reference" title="Clement, E. M., Godfrey, C., Tan, J., Brockington, M., Torelli, S., Feng, L., Brown, S. C., Jimenez-Mallebrera, C., Sewry, C. A., Longman, C., Mein, R., Abbs, S., Vajsar, J., Schachter, H., Muntoni, F. <strong>Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.</strong> Arch. Neurol. 65: 137-141, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18195152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18195152</a>] [<a href="https://doi.org/10.1001/archneurol.2007.2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18195152">Clement et al. (2008)</a> identified a homozygous mutation in the POMGNT1 gene (D556N; <a href="#0013">606822.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18195152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. <strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong> Brain 130: 2725-2735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>] [<a href="https://doi.org/10.1093/brain/awm212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878207">Godfrey et al. (2007)</a> identified POMGNT1 mutations in 7 of 92 patients with evidence of a muscular dystrophy due to defective glycosylation of alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>). One patient had WWS, 5 had MEB, and 1 had limb-girdle congenital muscular dystrophy without mental retardation (same patient as reported by <a href="#3" class="mim-tip-reference" title="Clement, E. M., Godfrey, C., Tan, J., Brockington, M., Torelli, S., Feng, L., Brown, S. C., Jimenez-Mallebrera, C., Sewry, C. A., Longman, C., Mein, R., Abbs, S., Vajsar, J., Schachter, H., Muntoni, F. <strong>Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.</strong> Arch. Neurol. 65: 137-141, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18195152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18195152</a>] [<a href="https://doi.org/10.1001/archneurol.2007.2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18195152">Clement et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17878207+18195152" 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="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified POMGNT1 mutations in 8 (10%) of 81 Italian patients with a dystroglycanopathy. One patient had Walker-Warburg syndrome, 6 had muscle-eye-brain disease, and 1 had congenital muscular dystrophy with mental retardation and cerebellar cysts (MDDGB3; <a href="/entry/613151">613151</a>). The last patient had a homozygous missense mutation (R605P; <a href="#0014">606822.0014</a>). All had mental retardation and structural brain abnormalities; most had eye involvement. In general, the more severe phenotypes appeared to be associated with mutations predicted to result in severe disruption of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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>Retinitis Pigmentosa 76</em></strong></p><p>
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In 4 affected individuals from 3 unrelated families with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>), <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> identified biallelic mutations in the POMGNT1 gene (<a href="#0018">606822.0018</a>-<a href="#0022">606822.0022</a>). Reexamination of all 4 patients revealed no extraocular features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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 5 families with nonsyndromic RP from a closed community on a small Taiwanese island, <a href="#17" class="mim-tip-reference" title="Wang, N. H.-H., Chen, S.-J., Yang, C.-F., Chen, H.-W., Chuang, H.-P., Lu, Y.-H., Chen, C.-H., Wu, J.-Y., Niu, D.-M., Chen, Y.-T. <strong>Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 57: 3601-3609, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27391550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27391550</a>] [<a href="https://doi.org/10.1167/iovs.16-19463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27391550">Wang et al. (2016)</a> identified a homozygous missense mutation in the POMGNT1 gene (L120R; <a href="#0023">606822.0023</a>) that segregated fully with disease and was not found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27391550" 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="#5" class="mim-tip-reference" title="Diesen, C., Saarinen, A., Pihko, H., Rosenlew, C., Cormand, B., Dobyns, W. B., Dieguez, J., Valanne, L., Joensuu, T., Lehesjoki, A.-E. <strong>POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.</strong> J. Med. Genet. 41: e115, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466003</a>] [<a href="https://doi.org/10.1136/jmg.2004.020701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466003">Diesen et al. (2004)</a> identified a splice site mutation in intron 17 (<a href="#0002">606822.0002</a>) as a founder mutation in the Finnish population; it was present in 18 of 19 Finnish MEB patients. Phenotypic variability was observed among the 18 homozygous Finnish patients, suggesting that other factors contribute to the pathogenesis of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15466003" 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 eukaryotes, proteins are frequently modified by O-glycosylation as well as by N-glycosylation. O-glycosylation occurs at serine and threonine residues. In yeast and fungi, O-glycosylation occurs mainly in the form of O-mannosylation. However, O-mannosylation is rare in mammals, occurring in a limited number of glycoproteins of brain, nerve, and skeletal muscle (<a href="#6" class="mim-tip-reference" title="Endo, T. <strong>O-mannosyl glycans in mammals.</strong> Biochim. Biophys. Acta 1473: 237-246, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10580142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10580142</a>] [<a href="https://doi.org/10.1016/s0304-4165(99)00182-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10580142">Endo, 1999</a>). <a href="#8" class="mim-tip-reference" title="Grewal, P. K., Holzfeind, P. J., Bittner, R. E., Hewitt, J. E. <strong>Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.</strong> Nature Genet. 28: 151-154, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381262</a>] [<a href="https://doi.org/10.1038/88865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381262">Grewal et al. (2001)</a> found that a deletion of a glycosyltransferase-like protein gene, Large (<a href="/entry/603590">603590</a>), is the basis of the myodystrophy (myd) mouse and gives rise to an alpha-dystroglycan (<a href="/entry/128239">128239</a>) that is markedly underglycosylated. <a href="#9" class="mim-tip-reference" title="Hayashi, Y. K., Ogawa, M., Tagawa, K., Noguchi, S., Ishihara, T., Nonaka, I., Arahata, K. <strong>Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.</strong> Neurology 57: 115-121, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445638</a>] [<a href="https://doi.org/10.1212/wnl.57.1.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445638">Hayashi et al. (2001)</a> found that muscle from patients with Fukuyama-type congenital muscular dystrophy, which has as its primary defect mutations in fukutin (a protein encoded by a gene on 9q31), shows a selective deficiency of highly glycosylated alpha-dystroglycan. These findings suggested that interference in glycosylation is one cause of muscular dystrophies. The finding that mutations in POMGNT1 result in MEB provided a molecular basis for the defects in O-mannosyl glycan synthesis and suggested that interference in O-mannosyl glycosylation is a pathomechanism for muscular dystrophy as well as neuronal migration disorder (<a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11445638+11709191+11381262+10580142" 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="#11" class="mim-tip-reference" title="Kano, H., Kobayashi, K., Herrmann, R., Tachikawa, M., Manya, H., Nishino, I., Nonaka, I., Straub, V., Talim, B., Voit, T., Topaloglu, H., Endo, T., Yoshikawa, H., Toda, T. <strong>Deficiency of alpha-dystroglycan in muscle-eye-brain disease.</strong> Biochem. Biophys. Res. Commun. 291: 1283-1286, 2002. Note: Erratum: Biochem. Biophys. Res. Commun. 293: 1579 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11883957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11883957</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11883957">Kano et al. (2002)</a> reported a selective deficiency of alpha-dystroglycan in MEB patients. This finding suggested that alpha-dystroglycan is a target of POMGNT1 and that altered glycosylation of DAG1 may play a critical role in the pathomechanism of MEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11883957" 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=606822[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777821;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/rs587777821?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=rs587777821" 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=rs587777821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001377279 OR RCV001847568" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001377279, RCV001847568" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001377279...</a>
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<p>In 2 unrelated patients with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>), each the offspring of consanguineous parents, <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> identified a splice site mutation (IVS17DS+1G-T) in the POMGNT1 gene, leading to deletion of amino acids leu472 to his513. Each patient was homozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<p>In a patient with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>), born of consanguineous parents, <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> found a homozygous IVS17+1G-A splice donor site mutation in the POMGNT1 gene. The mutation generated 2 different mRNAs: a read-through of intron 17 with introduction of a termination codon at 484 and a skipping of exon 17 resulting in an in-frame deletion of 42 amino acids. Both transcripts resulted in less than 1% residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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="Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others. <strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong> Hum. Molec. Genet. 12: 527-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588800</a>] [<a href="https://doi.org/10.1093/hmg/ddg043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588800">Taniguchi et al. (2003)</a> determined that a Japanese American girl with hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, and type II lissencephaly was a compound heterozygote for 2 mutations in the POMGNT1 gene: IVS17DS+1G-A and a 1-bp deletion (<a href="#0011">606822.0011</a>). Her father, who carried the IVS17 mutation, was of Scandinavian origin. She had initially been diagnosed with 'mild' Walker-Warburg syndrome, but the molecular analysis confirmed MEB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Diesen, C., Saarinen, A., Pihko, H., Rosenlew, C., Cormand, B., Dobyns, W. B., Dieguez, J., Valanne, L., Joensuu, T., Lehesjoki, A.-E. <strong>POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.</strong> J. Med. Genet. 41: e115, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466003</a>] [<a href="https://doi.org/10.1136/jmg.2004.020701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466003">Diesen et al. (2004)</a> referred to this mutation as 1539+1G-A and identified it as a founder mutation in the Finnish population; it was present in 18 of 19 Finnish MEB patients. Phenotypic variability was observed among the 18 homozygous Finnish patients, suggesting that other factors contribute to the pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15466003" 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> rs193919335 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193919335;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/rs193919335?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=rs193919335" 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=rs193919335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In several affected sibs with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>), <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> found a homozygous 1743G-A transition in exon 19 of the POMGNT1 gene, resulting in a ser550-to-asn (S550N) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" 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">rs386834017 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834017;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=rs386834017" 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=rs386834017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000049998 OR RCV001847571" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049998, RCV001847571" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049998...</a>
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<p>In a patient with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>) who was the son of consanguineous parents, <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> found homozygosity for a 1-bp deletion at base 1813 in exon 20, causing a frameshift and a premature termination at residue 633. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28942068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28942068;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=rs28942068" 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=rs28942068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001847572" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001847572" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001847572</a>
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<p>In a patient with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>) who was the son of nonconsanguineous parents, <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a> found compound heterozygosity for mutations in the POMGNT1 gene: a pro493-to-arg (P493R) missense mutation resulting from a 1572C-G transversion in exon 17, and a 1-bp deletion (1970delG) in exon 21 that caused a frameshift and premature stop at residue 633 (<a href="#0006">606822.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386834022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834022;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/rs386834022?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=rs386834022" 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=rs386834022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000050004 OR RCV001847643 OR RCV002496726 OR RCV003764722" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000050004, RCV001847643, RCV002496726, RCV003764722" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000050004...</a>
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<p>See <a href="#0005">606822.0005</a> and <a href="#19" class="mim-tip-reference" title="Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. <strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong> Dev. Cell 1: 717-724, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>] [<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709191">Yoshida et al. (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28940869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940869;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/rs28940869?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=rs28940869" 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=rs28940869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000150001 OR RCV000984210 OR RCV000984301 OR RCV000984302 OR RCV000984303 OR RCV001219572 OR RCV001847573 OR RCV002222337 OR RCV002512738 OR RCV004814821 OR RCV005025002" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000150001, RCV000984210, RCV000984301, RCV000984302, RCV000984303, RCV001219572, RCV001847573, RCV002222337, RCV002512738, RCV004814821, RCV005025002" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000150001...</a>
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<p>In 2 affected sibs from a non-Finnish family with muscle-eye-brain disease (MDDGA3; <a href="/entry/253280">253280</a>), <a href="#16" class="mim-tip-reference" title="Vervoort, V. S., Holden, K. R., Ukadike, K. C., Collins, J. S., Saul, R. A., Srivastava, A. K. <strong>POMGnT1 gene alterations in a family with neurological abnormalities.</strong> Ann. Neurol. 56: 143-148, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236414</a>] [<a href="https://doi.org/10.1002/ana.20172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236414">Vervoort et al. (2004)</a> identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 1465C-T transition in exon 16, resulting in an arg442-to-cys (R442C) substitution, and a 1073G-A transition in exon 10, resulting in an arg311-to-gln substitution (R311Q; <a href="#0008">606822.0008</a>). The R442C and R311Q mutations are in the highly conserved GNT1 domain of the protein. Each parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs193919336 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193919336;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/rs193919336?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=rs193919336" 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=rs193919336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>See <a href="#0007">606822.0007</a> and <a href="#16" class="mim-tip-reference" title="Vervoort, V. S., Holden, K. R., Ukadike, K. C., Collins, J. S., Saul, R. A., Srivastava, A. K. <strong>POMGnT1 gene alterations in a family with neurological abnormalities.</strong> Ann. Neurol. 56: 143-148, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236414</a>] [<a href="https://doi.org/10.1002/ana.20172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236414">Vervoort et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian patient with muscle and brain abnormalities consistent with MEB disease (MDDGA3; <a href="/entry/253280">253280</a>) but without eye abnormalities, <a href="#1" class="mim-tip-reference" title="Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F. M., Minetti, C., Bruno, C. <strong>POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.</strong> Arch. Neurol. 63: 1491-1495, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030669</a>] [<a href="https://doi.org/10.1001/archneur.63.10.1491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17030669">Biancheri et al. (2006)</a> identified homozygosity for a 932G-A transition in exon 10 of the POMGNT1 gene, resulting in an arg311-to-gln (R311Q) substitution. She had an unusual phenotype with relatively late onset (age 22 months, not at birth), mildly increased serum creatine kinase, and absence of ocular abnormalities. At age 30 years, she was mentally retarded and had seizures, but was able to walk without muscle weakness. Brain MRI showed cortical dysplasia and brainstem hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17030669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs193919337 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193919337;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=rs193919337" 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=rs193919337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240891 OR RCV001390610 OR RCV001529546 OR RCV001847575 OR RCV004566681 OR RCV005016236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240891, RCV001390610, RCV001529546, RCV001847575, RCV004566681, RCV005016236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240891...</a>
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<p><a href="#15" class="mim-tip-reference" title="Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others. <strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong> Hum. Molec. Genet. 12: 527-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588800</a>] [<a href="https://doi.org/10.1093/hmg/ddg043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588800">Taniguchi et al. (2003)</a> determined that an Italian girl with congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, and hydrocephalus consistent with MEB (MDDGA3; <a href="/entry/253280">253280</a>) was homozygous for a 281C-T transition in POMGNT1, resulting in an arg63-to-ter (R63X) substitution. She had initially been diagnosed with 'atypical' Walker-Warburg syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian patient with a diagnosis of Walker-Warburg syndrome (MDDGA3; <a href="/entry/253280">253280</a>), <a href="#12" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified a homozygous R63X mutation. Although clinical details were limited, the patient had severely impaired motor development, microcephaly, and mental retardation, but could sit with support. The patient also had 25-fold increased serum creatine kinase, seizures, myopia, and retinal dysplasia. Brain MRI findings were consistent with WWS, as defined by severe lissencephaly, hydrocephalus, and cerebellar and corpus callosum involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 MOVED TO <a href="/entry/606822#0002">606822.0002</a></strong>
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<strong>.0011 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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POMGNT1, 1-BP DEL, 1926T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777822;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=rs587777822" 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=rs587777822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Japanese American girl with hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, and type II lissencephaly consistent with MEB (MDDGA3; <a href="/entry/253280">253280</a>), <a href="#15" class="mim-tip-reference" title="Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others. <strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong> Hum. Molec. Genet. 12: 527-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588800</a>] [<a href="https://doi.org/10.1093/hmg/ddg043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588800">Taniguchi et al. (2003)</a> identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 1-bp deletion (1926delT) in exon 21 and a splice site mutation (<a href="#0002">606822.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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POMGNT1, TRP475TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606961 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606961;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=rs267606961" 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=rs267606961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001847577" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001847577" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001847577</a>
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<p>In a patient with Walker-Warburg syndrome (MDDGA3; <a href="/entry/253280">253280</a>), <a href="#7" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. <strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong> Brain 130: 2725-2735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>] [<a href="https://doi.org/10.1093/brain/awm212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878207">Godfrey et al. (2007)</a> identified a homozygous 1425G-A transition in exon 17 of the POMGNT1 gene, resulting in a trp475-to-ter (W475X) substitution. Although clinical details were limited, the patients had neonatal onset, and never achieved sitting. They also had low IQ and increased serum creatine kinase. Brain MRI showed cerebellar hypoplasia, cerebellar cysts, white matter abnormalities, hydrocephalus, and lissencephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3</strong>
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POMGNT1, ASP556ASN
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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> rs74374973 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74374973;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/rs74374973?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=rs74374973" 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=rs74374973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004204 OR RCV000081801 OR RCV000671438 OR RCV000710195 OR RCV001082774 OR RCV001097781 OR RCV001449938 OR RCV001579237 OR RCV001579238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004204, RCV000081801, RCV000671438, RCV000710195, RCV001082774, RCV001097781, RCV001449938, RCV001579237, RCV001579238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004204...</a>
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<p>In an Irish girl with limb-girdle muscular dystrophy and normal intellect (MDDGC3; <a href="/entry/613157">613157</a>), <a href="#3" class="mim-tip-reference" title="Clement, E. M., Godfrey, C., Tan, J., Brockington, M., Torelli, S., Feng, L., Brown, S. C., Jimenez-Mallebrera, C., Sewry, C. A., Longman, C., Mein, R., Abbs, S., Vajsar, J., Schachter, H., Muntoni, F. <strong>Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.</strong> Arch. Neurol. 65: 137-141, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18195152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18195152</a>] [<a href="https://doi.org/10.1001/archneurol.2007.2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18195152">Clement et al. (2008)</a> identified a homozygous 1666G-A transition in exon 20 of the POMGNT1 gene, resulting in an asp556-to-asn (D556N) substitution. In vitro functional expression studies showed normal POMGNT1 activity in conventional assays, but altered kinetic properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18195152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<strong>.0014 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606962 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606962;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/rs267606962?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=rs267606962" 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=rs267606962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004205 OR RCV000671290 OR RCV000824425 OR RCV001268426 OR RCV002512740 OR RCV003322587" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004205, RCV000671290, RCV000824425, RCV001268426, RCV002512740, RCV003322587" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004205...</a>
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<p>In a patient with congenital muscular dystrophy, mental retardation, and cerebellar cysts on brain MRI (MDDGB3; <a href="/entry/613151">613151</a>), <a href="#12" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified a homozygous 1814G-C transversion in exon 21 of the POMGNT1 gene, resulting in an arg605-to-pro (R605P) substitution. The patient was identified in a larger study of 81 patients with muscular dystrophy and evidence of a dystroglycanopathy. Although clinical details were limited, the patient had achieved walking, showed decreased alpha-dystroglycan on muscle biopsy, and had strabismus, myopia, and mental retardation. Brain MRI showed cerebellar cysts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs386834035 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834035;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/rs386834035?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=rs386834035" 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=rs386834035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004206 OR RCV000050018 OR RCV002512741 OR RCV003466805" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004206, RCV000050018, RCV002512741, RCV003466805" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004206...</a>
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<p>In a 16-year-old patient with POMGNT1-related congenital muscular dystrophy (MDDGB3; <a href="/entry/613151">613151</a>), <a href="#4" class="mim-tip-reference" title="Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., and 10 others. <strong>Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.</strong> Ann. Neurol. 64: 573-582, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19067344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19067344</a>] [<a href="https://doi.org/10.1002/ana.21482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19067344">Clement et al. (2008)</a> identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 652+1G-A transition, presumably resulting in a splice site mutation, and a cys490-to-tyr (C490Y; <a href="#0016">606822.0016</a>) substitution. The patient had mental retardation, myopia, optic atrophy, and increased serum creatine kinase. Brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine hypoplasia. Genetic analysis identified compound heterozygosity for 2 mutations in the POMGNT1 gene (<a href="#0015">606822.0015</a> and <a href="#0016">606822.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19067344" 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>.0016 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606960 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606960;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/rs267606960?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=rs267606960" 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=rs267606960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004207 OR RCV000411094 OR RCV000798530 OR RCV001091843 OR RCV002476922 OR RCV002512742 OR RCV003460424 OR RCV004532285" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004207, RCV000411094, RCV000798530, RCV001091843, RCV002476922, RCV002512742, RCV003460424, RCV004532285" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004207...</a>
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<p>See <a href="#0015">606822.0015</a> and <a href="#4" class="mim-tip-reference" title="Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., and 10 others. <strong>Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.</strong> Ann. Neurol. 64: 573-582, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19067344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19067344</a>] [<a href="https://doi.org/10.1002/ana.21482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19067344">Clement et al. (2008)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19067344" 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>.0017 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs966546165 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs966546165;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=rs966546165" 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=rs966546165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001681512 OR RCV002295346" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001681512, RCV002295346" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001681512...</a>
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<p>In an 11-year-old Belgian boy with limb-girdle muscular dystrophy without brain or eye anomalies (MDDGC3; <a href="/entry/613157">613157</a>), <a href="#13" class="mim-tip-reference" title="Raducu, M., Baets, J., Fano, O., Van Coster, R., Cruces, J. <strong>Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.</strong> Europ. J. Hum. Genet. 20: 945-952, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419172[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/ejhg.2012.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22419172">Raducu et al. (2012)</a> identified a homozygous 9-bp duplication (-83_-75dup) upstream of the transcriptional start site of the POMGNT1 gene in the 5-prime flanking region. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control individuals. Transfection of the mutation in COS-7 and HEK293T cells resulted in a 75% decrease in promoter activity compared to wildtype. Electrophoretic mobility shift assay (EMSA) revealed binding sites for several transcription factors in this region. The mutation generated an additional binding site for the transcriptional repressor ZNF202 (<a href="/entry/603430">603430</a>), resulting in the downregulation of POMGNT1 gene expression and, ultimately, defective glycosylation. The patient had slightly delayed initial motor development and had unsteady standing at age 2 years. He had muscle weakness, slight generalized amyotrophy, a positive Gowers sign, and lack of reflexes. At age 7 to 8 years, he had lumbar hyperlordosis, difficulties in climbing stairs, and weakness of the shoulder muscles. Laboratory studies showed a mild elevation of serum creatine kinase, and muscle biopsy showed dystrophic changes and defects in alpha-dystroglycan staining. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22419172" 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> rs200863680 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200863680;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/rs200863680?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=rs200863680" 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=rs200863680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240954 OR RCV001333961 OR RCV001854940 OR RCV003133196 OR RCV003479082" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240954, RCV001333961, RCV001854940, RCV003133196, RCV003479082" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240954...</a>
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<p>In a 78-year-old Italian woman and her 69-year-old brother with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>), <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> identified compound heterozygosity for mutations in the POMGNT1 gene: a c.860T-G transversion (c.860T-G, NM_017739), resulting in an ile287-to-ser (I287S) substitution at a highly conserved residue, and a c.187C-T transition, resulting in an arg63-to-ter (R63X; <a href="#0019">606822.0019</a>) substitution. An unaffected sister was heterozygous for the missense mutation, and an unaffected brother did not carry either mutation. The nonsense mutation was not found in the ExAC database, whereas the missense mutation was present at a frequency of 1 in 40,000. Functional analysis in transfected HEK293T cells demonstrated that the I287S mutation retained only 10% of the activity of wildtype, indicating that I287S represents a hypomorphic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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=RCV000240891 OR RCV001390610 OR RCV001529546 OR RCV001847575 OR RCV004566681 OR RCV005016236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240891, RCV001390610, RCV001529546, RCV001847575, RCV004566681, RCV005016236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240891...</a>
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<p>For discussion of the c.187C-T transition (c.187C-T, NM_017739) in the POMGNT1 gene, resulting in an arg63-to-ter (R63X) substitution, that was found in compound heterozygous state in an Italian sister and brother with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>) by <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a>, see <a href="#0018">606822.0018</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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">rs886037947 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037947;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=rs886037947" 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=rs886037947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240928</a>
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<p>In a 32-year-old woman from a consanguineous Han Chinese family with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>), <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> identified homozygosity for a c.466G-A transition (c.466G-A, NM_017739) in the POMGNT1 gene, resulting in a glu156-to-lys (E156K) substitution at a highly conserved residue. Segregation analysis was not reported. The mutation was not found in the ExAC database, and the authors noted that it had not been detected in patients with muscular dystrophy-dystroglycanopathy. Functional analysis in transfected HEK293T cells demonstrated that the E156K mutation retained only 30% of the activity of wildtype, indicating that E156K represents a hypomorphic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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> rs386834024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834024;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/rs386834024?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=rs386834024" 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=rs386834024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000050005 OR RCV000240866 OR RCV001043665 OR RCV001810415 OR RCV002513697 OR RCV004700352" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000050005, RCV000240866, RCV001043665, RCV001810415, RCV002513697, RCV004700352" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000050005...</a>
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<p>In a 52-year-old Han Chinese man with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>), <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> identified compound heterozygosity for mutations in the POMGNT1 gene: a c.1895+1G-A transition (c.1895+1G-A, NM_017739) in intron 21, resulting in premature termination (V633X), and a c.1505G-C transversion, resulting in a gly502-to-ala (G502A) substitution at a highly conserved residue. Neither mutation was found in the ExAC database. <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a> stated that the splice site mutation had previously been identified (<a href="#5" class="mim-tip-reference" title="Diesen, C., Saarinen, A., Pihko, H., Rosenlew, C., Cormand, B., Dobyns, W. B., Dieguez, J., Valanne, L., Joensuu, T., Lehesjoki, A.-E. <strong>POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.</strong> J. Med. Genet. 41: e115, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466003</a>] [<a href="https://doi.org/10.1136/jmg.2004.020701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466003">Diesen et al., 2004</a>; <a href="#14" class="mim-tip-reference" title="Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I., Mora, M. <strong>Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.</strong> J. Neurol. Sci. 318: 45-50, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22554691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22554691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22554691[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jns.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22554691">Saredi et al., 2012</a>) in compound heterozygosity in 2 unrelated patients with muscular dystrophy-dystroglycanopathy (<a href="/entry/253280">253280</a>), and was reported to cause intron retention and generation of a premature stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15466003+26908613+22554691" 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> rs886037948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037948;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/rs886037948?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=rs886037948" 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=rs886037948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000240894" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240894" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240894</a>
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<p>For discussion of the c.1505G-C transversion (c.1505G-C, NM_017739) in the POMGNT1 gene, resulting in a gly502-to-ala (G502A) substitution, that was found in compound heterozygous state in a patient with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>) by <a href="#18" class="mim-tip-reference" title="Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R. <strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong> Hum. Molec. Genet. 25: 1479-1488, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26908613">Xu et al. (2016)</a>, see <a href="#0021">606822.0021</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26908613" 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">rs886037949 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037949;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=rs886037949" 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=rs886037949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 17 affected individuals from 5 families with nonsyndromic retinitis pigmentosa (RP76; <a href="/entry/617123">617123</a>) from a closed community on a small Taiwanese island, <a href="#17" class="mim-tip-reference" title="Wang, N. H.-H., Chen, S.-J., Yang, C.-F., Chen, H.-W., Chuang, H.-P., Lu, Y.-H., Chen, C.-H., Wu, J.-Y., Niu, D.-M., Chen, Y.-T. <strong>Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 57: 3601-3609, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27391550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27391550</a>] [<a href="https://doi.org/10.1167/iovs.16-19463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27391550">Wang et al. (2016)</a> identified homozygosity for a c.359A-C transversion (c.359A-C, NM_017739.3) in exon 5 of the POMGNT1 gene, resulting in a leu120-to-arg (L120R) substitution at a highly conserved residue. The mutation segregated fully with disease in the families, and was not found in 470 Han Chinese controls. Functional analysis in HEK293T cells demonstrated that the L120R mutant had only 21% of the enzymatic activity of wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27391550" 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://doi.org/10.1002/humu.20561" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneurol.2007.2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.21482" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.020701" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/awm212" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/88865" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.1.115" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10048-007-0096-y" target="_blank">Full Text</a>]
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Kano, H., Kobayashi, K., Herrmann, R., Tachikawa, M., Manya, H., Nishino, I., Nonaka, I., Straub, V., Talim, B., Voit, T., Topaloglu, H., Endo, T., Yoshikawa, H., Toda, T.
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[<a href="https://doi.org/10.1006/bbrc.2002.6608" target="_blank">Full Text</a>]
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<a id="Mercuri2009" class="mim-anchor"></a>
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Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D.
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<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
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Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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/10.1212/01.wnl.0000346518.68110.60" target="_blank">Full Text</a>]
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Raducu, M., Baets, J., Fano, O., Van Coster, R., Cruces, J.
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<strong>Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22419172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22419172</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22419172[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=22419172" 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/ejhg.2012.40" target="_blank">Full Text</a>]
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<a id="Saredi2012" class="mim-anchor"></a>
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Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I., Mora, M.
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<strong>Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22554691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22554691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22554691[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=22554691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jns.2012.04.008" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Taniguchi2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others.
|
|
<strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong>
|
|
Hum. Molec. Genet. 12: 527-534, 2003.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588800" 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/ddg043" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Vervoort2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vervoort, V. S., Holden, K. R., Ukadike, K. C., Collins, J. S., Saul, R. A., Srivastava, A. K.
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<strong>POMGnT1 gene alterations in a family with neurological abnormalities.</strong>
|
|
Ann. Neurol. 56: 143-148, 2004.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236414" 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/ana.20172" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Wang2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, N. H.-H., Chen, S.-J., Yang, C.-F., Chen, H.-W., Chuang, H.-P., Lu, Y.-H., Chen, C.-H., Wu, J.-Y., Niu, D.-M., Chen, Y.-T.
|
|
<strong>Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa.</strong>
|
|
Invest. Ophthal. Vis. Sci. 57: 3601-3609, 2016.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27391550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27391550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27391550" 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/10.1167/iovs.16-19463" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Xu2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R.
|
|
<strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong>
|
|
Hum. Molec. Genet. 25: 1479-1488, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26908613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26908613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26908613[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=26908613" 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/ddw022" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Yoshida2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T.
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<strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong>
|
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Dev. Cell 1: 717-724, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1534-5807(01)00070-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Zhang2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, W., Betel, D., Schachter, H.
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<strong>Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.</strong>
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Biochem. J. 361: 153-162, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11742540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11742540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11742540" 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/10.1042/0264-6021:3610153" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/20/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/23/2012<br>Cassandra L. Kniffin - updated : 11/27/2007<br>Cassandra L. Kniffin - updated : 11/1/2007<br>Cassandra L. Kniffin - updated : 11/3/2006<br>George E. Tiller - updated : 3/3/2005<br>Cassandra L. Kniffin - updated : 8/3/2004<br>Paul J. Converse - updated : 4/9/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 4/4/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/16/2021
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/19/2020<br>carol : 10/09/2019<br>carol : 09/25/2018<br>carol : 09/20/2016<br>carol : 10/15/2014<br>mcolton : 10/15/2014<br>carol : 10/15/2014<br>carol : 10/2/2014<br>carol : 4/10/2013<br>terry : 4/4/2013<br>carol : 10/24/2012<br>ckniffin : 10/23/2012<br>carol : 11/10/2010<br>ckniffin : 11/8/2010<br>ckniffin : 12/4/2009<br>ckniffin : 12/29/2008<br>wwang : 12/4/2007<br>ckniffin : 11/27/2007<br>wwang : 11/26/2007<br>wwang : 11/6/2007<br>ckniffin : 11/1/2007<br>wwang : 11/9/2006<br>ckniffin : 11/3/2006<br>alopez : 9/21/2006<br>alopez : 3/9/2005<br>terry : 3/3/2005<br>tkritzer : 8/9/2004<br>ckniffin : 8/3/2004<br>mgross : 4/9/2002<br>alopez : 4/4/2002
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 606822
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
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|
|
PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
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</span>
|
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: POMGNT1</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 725043006;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 1p34.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:46,188,683-46,220,305 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
1p34.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
253280
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613151
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613157
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 76
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617123
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis by transferring N-acetylglucosamine residues to O-linked mannose. O-mannosyl glycan synthesis is essential for the proper functioning of dystroglycan (128239), the central element of the dystrophin-glycoprotein complex (DGC) (summary by Raducu et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By database searches for sequences with similarity to that of GlcNAc-TI (160995), followed by RT-PCR amplification of cDNA fragments from human brain RNA and 5-prime RACE, Yoshida et al. (2001) isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase. The POMGNT1 gene encodes a 660-amino acid type II transmembrane protein, with the region from phe38 to ile58 constituting a putative transmembrane domain. Northern blot analysis detected a 2.7-kb transcript in all 23 normal tissues tested, indicating that human POMGNT1 is constitutively expressed. An additional weaker 3.4-kb band was observed in spinal cord, lymph node, and trachea, suggesting the presence of 2 transcriptional initiation sites or alternative splicing in these tissues. </p><p>Zhang et al. (2002) cloned human and mouse POMGNT1, which they termed GNTI.2. The human and mouse proteins share 99% identity over 620 residues. Northern blot analysis revealed wide expression of a 3.3-kb transcript. </p><p>Xu et al. (2016) performed immunohistochemistry on adult mouse retina cryosections and observed no expression in the nuclear or plexiform layers. However, there was clear expression in photoreceptor cells, with localization at the basal bodies and daughter centrioles. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Binding and functional analyses by Zhang et al. (2002) indicated that GNTI.2 is specific for alpha-linked terminal Man and does not have MGAT3 (604621), MGAT4B (604561), MGAT5 (601774), MGAT7, or MGAT8 activity. </p><p>Raducu et al. (2012) identified functional binding sites in the promoter region of the POMGNT1 gene for the transcription factors SP1 (189906), ETS1 (164720), and GATA (see, e.g., GATA1, 305371). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic PCR analysis of a draft genomic sequence containing human POMGNT1 (GenBank AL360086), Yoshida et al. (2001) determined that the gene is divided into 22 exons and that its coding region begins in exon 2. </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>Yoshida et al. (2001) noted that the presence of 2 sequence tagged sites in the UniSTS database suggested that the human POMGNT1 gene resides on 1p34-p33. </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>Muscular Dystrophy-Dystroglycanopathy</em></strong></p><p>
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Mutation in the POMGNT1 gene can cause 3 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A3; MDDGA3, 253280), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with impaired intellectual disability (type B3; MDDGB3; 613151); and a milder limb-girdle form (type C3; MDDGC3; 613157), also known as LGMDR15 and LGMD2O.</p><p>Yoshida et al. (2001) identified 6 independent mutations of the POMGNT1 gene (606822.0001-606822.0006) in 6 patients with MEB (see 253280). MEB is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly (resulting from a disorder of neuronal migration). </p><p>Taniguchi et al. (2003) identified 7 disease-causing mutations in the POMGNT1 gene (see, e.g., 606822.0009; 606822.0011) in 6 non-Finnish Caucasian, Japanese, and Korean patients with suspected MEB. One patient was initially diagnosed clinically as having Fukuyama congenital muscular dystrophy (FCMD; see MDDGA4, 253800), and 2 as having 'atypical' or 'mild' Walker-Warburg syndrome. These 3 diseases are believed to be caused by a similar pathomechanism and thus show clinical overlap. The findings indicated that MEB exists in populations outside of Finland and that the clinical spectrum of MEB is broader than previously recognized. All of the patients with POMGNT1 mutations were still alive contrasting typical WWS, in which almost all patients die before 1 year of age. Mutations were dispersed throughout the entire POMGNT1 gene. A slight correlation was observed between location of the mutation and clinical severity in the brain: patients with mutations near the 5-prime terminus of the POMGNT1 coding region showed relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3-prime terminus had milder phenotypes. </p><p>Bouchet et al. (2007) identified mutations in the POMT1 gene (607423) in 13 (32%) of 41 families in which at least 1 fetus had severe type II lissencephaly consistent with Walker-Warburg syndrome or MEB. The minimum diagnostic criteria included hydrocephalus, agyria, thickened leptomeninges filled with neuroglial ectopia, disorganized cortical ribbon, and cerebellar dysplasia. Mutations in the POMGNT1 and POMT2 genes (607439) were identified in 6 (15%) and 3 (7%) families, respectively. Overall, mutations were identified in 22 of 41 families included in the study. Patients with POMGNT1 mutations had a relatively less severe phenotype. Definitive pathogenic mutations were not identified in the FKRP (606596), FKTN (607440), or LARGE (603590) genes. </p><p>Hehr et al. (2007) identified 9 POMGNT1 mutations, including 6 novel mutations, in 9 MEB patients from 8 unrelated families of various ethnic origins. The authors noted that 34 different POMGNT1 mutations had been identified in MEB patients; most are predicted to result in complete loss of enzyme activity. The data suggest mutation hotspots within the minimal catalytic domain at arg442 in exon 16, and in intron 17. No genotype-phenotype correlations were observed. </p><p>In an Irish girl with limb-girdle muscular dystrophy and normal intellect (MDDGC3; 613157), Clement et al. (2008) identified a homozygous mutation in the POMGNT1 gene (D556N; 606822.0013). </p><p>Godfrey et al. (2007) identified POMGNT1 mutations in 7 of 92 patients with evidence of a muscular dystrophy due to defective glycosylation of alpha-dystroglycan (DAG1; 128239). One patient had WWS, 5 had MEB, and 1 had limb-girdle congenital muscular dystrophy without mental retardation (same patient as reported by Clement et al., 2008). </p><p>Mercuri et al. (2009) identified POMGNT1 mutations in 8 (10%) of 81 Italian patients with a dystroglycanopathy. One patient had Walker-Warburg syndrome, 6 had muscle-eye-brain disease, and 1 had congenital muscular dystrophy with mental retardation and cerebellar cysts (MDDGB3; 613151). The last patient had a homozygous missense mutation (R605P; 606822.0014). All had mental retardation and structural brain abnormalities; most had eye involvement. In general, the more severe phenotypes appeared to be associated with mutations predicted to result in severe disruption of the gene. </p><p><strong><em>Retinitis Pigmentosa 76</em></strong></p><p>
|
|
In 4 affected individuals from 3 unrelated families with nonsyndromic retinitis pigmentosa (RP76; 617123), Xu et al. (2016) identified biallelic mutations in the POMGNT1 gene (606822.0018-606822.0022). Reexamination of all 4 patients revealed no extraocular features. </p><p>In 5 families with nonsyndromic RP from a closed community on a small Taiwanese island, Wang et al. (2016) identified a homozygous missense mutation in the POMGNT1 gene (L120R; 606822.0023) that segregated fully with disease and was not found in controls. </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>Population 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>Diesen et al. (2004) identified a splice site mutation in intron 17 (606822.0002) as a founder mutation in the Finnish population; it was present in 18 of 19 Finnish MEB patients. Phenotypic variability was observed among the 18 homozygous Finnish patients, suggesting that other factors contribute to the pathogenesis of the disorder. </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>Biochemical Features</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>In eukaryotes, proteins are frequently modified by O-glycosylation as well as by N-glycosylation. O-glycosylation occurs at serine and threonine residues. In yeast and fungi, O-glycosylation occurs mainly in the form of O-mannosylation. However, O-mannosylation is rare in mammals, occurring in a limited number of glycoproteins of brain, nerve, and skeletal muscle (Endo, 1999). Grewal et al. (2001) found that a deletion of a glycosyltransferase-like protein gene, Large (603590), is the basis of the myodystrophy (myd) mouse and gives rise to an alpha-dystroglycan (128239) that is markedly underglycosylated. Hayashi et al. (2001) found that muscle from patients with Fukuyama-type congenital muscular dystrophy, which has as its primary defect mutations in fukutin (a protein encoded by a gene on 9q31), shows a selective deficiency of highly glycosylated alpha-dystroglycan. These findings suggested that interference in glycosylation is one cause of muscular dystrophies. The finding that mutations in POMGNT1 result in MEB provided a molecular basis for the defects in O-mannosyl glycan synthesis and suggested that interference in O-mannosyl glycosylation is a pathomechanism for muscular dystrophy as well as neuronal migration disorder (Yoshida et al., 2001). </p><p>Kano et al. (2002) reported a selective deficiency of alpha-dystroglycan in MEB patients. This finding suggested that alpha-dystroglycan is a target of POMGNT1 and that altered glycosylation of DAG1 may play a critical role in the pathomechanism of MEB. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>23 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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POMGNT1, IVS17DS, G-T, +1
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<br />
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|
|
SNP: rs587777821,
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|
|
gnomAD: rs587777821,
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|
|
ClinVar: RCV001377279, RCV001847568
|
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with muscle-eye-brain disease (MDDGA3; 253280), each the offspring of consanguineous parents, Yoshida et al. (2001) identified a splice site mutation (IVS17DS+1G-T) in the POMGNT1 gene, leading to deletion of amino acids leu472 to his513. Each patient was homozygous for the mutation. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
POMGNT1, IVS17DS, G-A, +1
|
|
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|
<br />
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|
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|
|
ClinVar: RCV000049995, RCV000153760, RCV000323217, RCV000501155, RCV000648199, RCV000763345, RCV000983990, RCV001030748, RCV001196668, RCV001269143, RCV002295277, RCV002470740, RCV002514263, RCV004814990, RCV005025104
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</span>
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a patient with muscle-eye-brain disease (MDDGA3; 253280), born of consanguineous parents, Yoshida et al. (2001) found a homozygous IVS17+1G-A splice donor site mutation in the POMGNT1 gene. The mutation generated 2 different mRNAs: a read-through of intron 17 with introduction of a termination codon at 484 and a skipping of exon 17 resulting in an in-frame deletion of 42 amino acids. Both transcripts resulted in less than 1% residual enzyme activity. </p><p>Taniguchi et al. (2003) determined that a Japanese American girl with hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, and type II lissencephaly was a compound heterozygote for 2 mutations in the POMGNT1 gene: IVS17DS+1G-A and a 1-bp deletion (606822.0011). Her father, who carried the IVS17 mutation, was of Scandinavian origin. She had initially been diagnosed with 'mild' Walker-Warburg syndrome, but the molecular analysis confirmed MEB. </p><p>Diesen et al. (2004) referred to this mutation as 1539+1G-A and identified it as a founder mutation in the Finnish population; it was present in 18 of 19 Finnish MEB patients. Phenotypic variability was observed among the 18 homozygous Finnish patients, suggesting that other factors contribute to the pathogenesis. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
POMGNT1, SER550ASN
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|
|
<br />
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|
|
|
SNP: rs193919335,
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|
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|
|
|
gnomAD: rs193919335,
|
|
|
|
|
|
ClinVar: RCV000169201, RCV001847570
|
|
|
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|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In several affected sibs with muscle-eye-brain disease (MDDGA3; 253280), Yoshida et al. (2001) found a homozygous 1743G-A transition in exon 19 of the POMGNT1 gene, resulting in a ser550-to-asn (S550N) substitution. </p>
|
|
</span>
|
|
</div>
|
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|
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<div>
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|
<br />
|
|
</div>
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|
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</div>
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
POMGNT1, 1-BP DEL, 1813C
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|
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|
|
|
<br />
|
|
|
|
SNP: rs386834017,
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|
|
|
|
|
ClinVar: RCV000049998, RCV001847571
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with muscle-eye-brain disease (MDDGA3; 253280) who was the son of consanguineous parents, Yoshida et al. (2001) found homozygosity for a 1-bp deletion at base 1813 in exon 20, causing a frameshift and a premature termination at residue 633. </p>
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|
</span>
|
|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, PRO493ARG
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|
|
|
<br />
|
|
|
|
SNP: rs28942068,
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|
|
|
|
|
|
|
ClinVar: RCV001847572
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with muscle-eye-brain disease (MDDGA3; 253280) who was the son of nonconsanguineous parents, Yoshida et al. (2001) found compound heterozygosity for mutations in the POMGNT1 gene: a pro493-to-arg (P493R) missense mutation resulting from a 1572C-G transversion in exon 17, and a 1-bp deletion (1970delG) in exon 21 that caused a frameshift and premature stop at residue 633 (606822.0006). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, 1-BP DEL, 1970G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386834022,
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|
|
|
|
|
gnomAD: rs386834022,
|
|
|
|
|
|
ClinVar: RCV000050004, RCV001847643, RCV002496726, RCV003764722
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 606822.0005 and Yoshida et al. (2001). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
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|
POMGNT1, ARG442CYS
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<br />
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|
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SNP: rs28940869,
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gnomAD: rs28940869,
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|
|
ClinVar: RCV000150001, RCV000984210, RCV000984301, RCV000984302, RCV000984303, RCV001219572, RCV001847573, RCV002222337, RCV002512738, RCV004814821, RCV005025002
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 affected sibs from a non-Finnish family with muscle-eye-brain disease (MDDGA3; 253280), Vervoort et al. (2004) identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 1465C-T transition in exon 16, resulting in an arg442-to-cys (R442C) substitution, and a 1073G-A transition in exon 10, resulting in an arg311-to-gln substitution (R311Q; 606822.0008). The R442C and R311Q mutations are in the highly conserved GNT1 domain of the protein. Each parent was heterozygous for 1 of the mutations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0008 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</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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POMGNT1, ARG311GLN
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<br />
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SNP: rs193919336,
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gnomAD: rs193919336,
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ClinVar: RCV000049989, RCV001370524, RCV001582464, RCV001847574, RCV002509144, RCV002512739
|
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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>See 606822.0007 and Vervoort et al. (2004). </p><p>In an Italian patient with muscle and brain abnormalities consistent with MEB disease (MDDGA3; 253280) but without eye abnormalities, Biancheri et al. (2006) identified homozygosity for a 932G-A transition in exon 10 of the POMGNT1 gene, resulting in an arg311-to-gln (R311Q) substitution. She had an unusual phenotype with relatively late onset (age 22 months, not at birth), mildly increased serum creatine kinase, and absence of ocular abnormalities. At age 30 years, she was mentally retarded and had seizures, but was able to walk without muscle weakness. Brain MRI showed cortical dysplasia and brainstem hypoplasia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0009 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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POMGNT1, ARG63TER
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<br />
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SNP: rs193919337,
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ClinVar: RCV000240891, RCV001390610, RCV001529546, RCV001847575, RCV004566681, RCV005016236
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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>Taniguchi et al. (2003) determined that an Italian girl with congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, and hydrocephalus consistent with MEB (MDDGA3; 253280) was homozygous for a 281C-T transition in POMGNT1, resulting in an arg63-to-ter (R63X) substitution. She had initially been diagnosed with 'atypical' Walker-Warburg syndrome. </p><p>In an Italian patient with a diagnosis of Walker-Warburg syndrome (MDDGA3; 253280), Mercuri et al. (2009) identified a homozygous R63X mutation. Although clinical details were limited, the patient had severely impaired motor development, microcephaly, and mental retardation, but could sit with support. The patient also had 25-fold increased serum creatine kinase, seizures, myopia, and retinal dysplasia. Brain MRI findings were consistent with WWS, as defined by severe lissencephaly, hydrocephalus, and cerebellar and corpus callosum involvement. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-text-font">
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|
<strong>.0010 MOVED TO 606822.0002</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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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
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|
</span>
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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POMGNT1, 1-BP DEL, 1926T
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<br />
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SNP: rs587777822,
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ClinVar: RCV001847576
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|
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</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Japanese American girl with hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, and type II lissencephaly consistent with MEB (MDDGA3; 253280), Taniguchi et al. (2003) identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 1-bp deletion (1926delT) in exon 21 and a splice site mutation (606822.0002). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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|
POMGNT1, TRP475TER
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|
<br />
|
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|
|
SNP: rs267606961,
|
|
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|
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|
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ClinVar: RCV001847577
|
|
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|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Walker-Warburg syndrome (MDDGA3; 253280), Godfrey et al. (2007) identified a homozygous 1425G-A transition in exon 17 of the POMGNT1 gene, resulting in a trp475-to-ter (W475X) substitution. Although clinical details were limited, the patients had neonatal onset, and never achieved sitting. They also had low IQ and increased serum creatine kinase. Brain MRI showed cerebellar hypoplasia, cerebellar cysts, white matter abnormalities, hydrocephalus, and lissencephaly. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
|
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</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, ASP556ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs74374973,
|
|
|
|
|
|
gnomAD: rs74374973,
|
|
|
|
|
|
ClinVar: RCV000004204, RCV000081801, RCV000671438, RCV000710195, RCV001082774, RCV001097781, RCV001449938, RCV001579237, RCV001579238
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Irish girl with limb-girdle muscular dystrophy and normal intellect (MDDGC3; 613157), Clement et al. (2008) identified a homozygous 1666G-A transition in exon 20 of the POMGNT1 gene, resulting in an asp556-to-asn (D556N) substitution. In vitro functional expression studies showed normal POMGNT1 activity in conventional assays, but altered kinetic properties. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, ARG605PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606962,
|
|
|
|
|
|
gnomAD: rs267606962,
|
|
|
|
|
|
ClinVar: RCV000004205, RCV000671290, RCV000824425, RCV001268426, RCV002512740, RCV003322587
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital muscular dystrophy, mental retardation, and cerebellar cysts on brain MRI (MDDGB3; 613151), Mercuri et al. (2009) identified a homozygous 1814G-C transversion in exon 21 of the POMGNT1 gene, resulting in an arg605-to-pro (R605P) substitution. The patient was identified in a larger study of 81 patients with muscular dystrophy and evidence of a dystroglycanopathy. Although clinical details were limited, the patient had achieved walking, showed decreased alpha-dystroglycan on muscle biopsy, and had strabismus, myopia, and mental retardation. Brain MRI showed cerebellar cysts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, 652+1G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs386834035,
|
|
|
|
|
|
gnomAD: rs386834035,
|
|
|
|
|
|
ClinVar: RCV000004206, RCV000050018, RCV002512741, RCV003466805
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old patient with POMGNT1-related congenital muscular dystrophy (MDDGB3; 613151), Clement et al. (2008) identified compound heterozygosity for 2 mutations in the POMGNT1 gene: a 652+1G-A transition, presumably resulting in a splice site mutation, and a cys490-to-tyr (C490Y; 606822.0016) substitution. The patient had mental retardation, myopia, optic atrophy, and increased serum creatine kinase. Brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine hypoplasia. Genetic analysis identified compound heterozygosity for 2 mutations in the POMGNT1 gene (606822.0015 and 606822.0016). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, CYS490TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606960,
|
|
|
|
|
|
gnomAD: rs267606960,
|
|
|
|
|
|
ClinVar: RCV000004207, RCV000411094, RCV000798530, RCV001091843, RCV002476922, RCV002512742, RCV003460424, RCV004532285
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 606822.0015 and Clement et al. (2008). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, 9-BP DUP, -83
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs966546165,
|
|
|
|
|
|
|
|
ClinVar: RCV001681512, RCV002295346
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 11-year-old Belgian boy with limb-girdle muscular dystrophy without brain or eye anomalies (MDDGC3; 613157), Raducu et al. (2012) identified a homozygous 9-bp duplication (-83_-75dup) upstream of the transcriptional start site of the POMGNT1 gene in the 5-prime flanking region. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control individuals. Transfection of the mutation in COS-7 and HEK293T cells resulted in a 75% decrease in promoter activity compared to wildtype. Electrophoretic mobility shift assay (EMSA) revealed binding sites for several transcription factors in this region. The mutation generated an additional binding site for the transcriptional repressor ZNF202 (603430), resulting in the downregulation of POMGNT1 gene expression and, ultimately, defective glycosylation. The patient had slightly delayed initial motor development and had unsteady standing at age 2 years. He had muscle weakness, slight generalized amyotrophy, a positive Gowers sign, and lack of reflexes. At age 7 to 8 years, he had lumbar hyperlordosis, difficulties in climbing stairs, and weakness of the shoulder muscles. Laboratory studies showed a mild elevation of serum creatine kinase, and muscle biopsy showed dystrophic changes and defects in alpha-dystroglycan staining. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 RETINITIS PIGMENTOSA 76</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, ILE287SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200863680,
|
|
|
|
|
|
gnomAD: rs200863680,
|
|
|
|
|
|
ClinVar: RCV000240954, RCV001333961, RCV001854940, RCV003133196, RCV003479082
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 78-year-old Italian woman and her 69-year-old brother with nonsyndromic retinitis pigmentosa (RP76; 617123), Xu et al. (2016) identified compound heterozygosity for mutations in the POMGNT1 gene: a c.860T-G transversion (c.860T-G, NM_017739), resulting in an ile287-to-ser (I287S) substitution at a highly conserved residue, and a c.187C-T transition, resulting in an arg63-to-ter (R63X; 606822.0019) substitution. An unaffected sister was heterozygous for the missense mutation, and an unaffected brother did not carry either mutation. The nonsense mutation was not found in the ExAC database, whereas the missense mutation was present at a frequency of 1 in 40,000. Functional analysis in transfected HEK293T cells demonstrated that the I287S mutation retained only 10% of the activity of wildtype, indicating that I287S represents a hypomorphic mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 RETINITIS PIGMENTOSA 76</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMGNT1, ARG63TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000240891, RCV001390610, RCV001529546, RCV001847575, RCV004566681, RCV005016236
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.187C-T transition (c.187C-T, NM_017739) in the POMGNT1 gene, resulting in an arg63-to-ter (R63X) substitution, that was found in compound heterozygous state in an Italian sister and brother with nonsyndromic retinitis pigmentosa (RP76; 617123) by Xu et al. (2016), see 606822.0018. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 RETINITIS PIGMENTOSA 76</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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POMGNT1, GLU156LYS
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<br />
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SNP: rs886037947,
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ClinVar: RCV000240928
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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 32-year-old woman from a consanguineous Han Chinese family with nonsyndromic retinitis pigmentosa (RP76; 617123), Xu et al. (2016) identified homozygosity for a c.466G-A transition (c.466G-A, NM_017739) in the POMGNT1 gene, resulting in a glu156-to-lys (E156K) substitution at a highly conserved residue. Segregation analysis was not reported. The mutation was not found in the ExAC database, and the authors noted that it had not been detected in patients with muscular dystrophy-dystroglycanopathy. Functional analysis in transfected HEK293T cells demonstrated that the E156K mutation retained only 30% of the activity of wildtype, indicating that E156K represents a hypomorphic mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0021 RETINITIS PIGMENTOSA 76</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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POMGNT1, IVS21DS, G-A, +1
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<br />
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SNP: rs386834024,
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gnomAD: rs386834024,
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ClinVar: RCV000050005, RCV000240866, RCV001043665, RCV001810415, RCV002513697, RCV004700352
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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 52-year-old Han Chinese man with nonsyndromic retinitis pigmentosa (RP76; 617123), Xu et al. (2016) identified compound heterozygosity for mutations in the POMGNT1 gene: a c.1895+1G-A transition (c.1895+1G-A, NM_017739) in intron 21, resulting in premature termination (V633X), and a c.1505G-C transversion, resulting in a gly502-to-ala (G502A) substitution at a highly conserved residue. Neither mutation was found in the ExAC database. Xu et al. (2016) stated that the splice site mutation had previously been identified (Diesen et al., 2004; Saredi et al., 2012) in compound heterozygosity in 2 unrelated patients with muscular dystrophy-dystroglycanopathy (253280), and was reported to cause intron retention and generation of a premature stop codon. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0022 RETINITIS PIGMENTOSA 76</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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POMGNT1, GLY502ALA
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<br />
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SNP: rs886037948,
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gnomAD: rs886037948,
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ClinVar: RCV000240894
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.1505G-C transversion (c.1505G-C, NM_017739) in the POMGNT1 gene, resulting in a gly502-to-ala (G502A) substitution, that was found in compound heterozygous state in a patient with nonsyndromic retinitis pigmentosa (RP76; 617123) by Xu et al. (2016), see 606822.0021. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0023 RETINITIS PIGMENTOSA 76</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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POMGNT1, LEU120ARG
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<br />
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SNP: rs886037949,
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ClinVar: RCV000240931
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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 17 affected individuals from 5 families with nonsyndromic retinitis pigmentosa (RP76; 617123) from a closed community on a small Taiwanese island, Wang et al. (2016) identified homozygosity for a c.359A-C transversion (c.359A-C, NM_017739.3) in exon 5 of the POMGNT1 gene, resulting in a leu120-to-arg (L120R) substitution at a highly conserved residue. The mutation segregated fully with disease in the families, and was not found in 470 Han Chinese controls. Functional analysis in HEK293T cells demonstrated that the L120R mutant had only 21% of the enzymatic activity of wildtype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F. M., Minetti, C., Bruno, C.
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<strong>POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.</strong>
|
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Arch. Neurol. 63: 1491-1495, 2006.
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[PubMed: 17030669]
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[Full Text: https://doi.org/10.1001/archneur.63.10.1491]
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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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Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others.
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<strong>Molecular heterogeneity in fetal forms of type II lissencephaly.</strong>
|
|
Hum. Mutat. 28: 1020-1027, 2007.
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[PubMed: 17559086]
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[Full Text: https://doi.org/10.1002/humu.20561]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Clement, E. M., Godfrey, C., Tan, J., Brockington, M., Torelli, S., Feng, L., Brown, S. C., Jimenez-Mallebrera, C., Sewry, C. A., Longman, C., Mein, R., Abbs, S., Vajsar, J., Schachter, H., Muntoni, F.
|
|
<strong>Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.</strong>
|
|
Arch. Neurol. 65: 137-141, 2008.
|
|
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|
|
[PubMed: 18195152]
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[Full Text: https://doi.org/10.1001/archneurol.2007.2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., and 10 others.
|
|
<strong>Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.</strong>
|
|
Ann. Neurol. 64: 573-582, 2008.
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|
|
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|
|
[PubMed: 19067344]
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[Full Text: https://doi.org/10.1002/ana.21482]
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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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Diesen, C., Saarinen, A., Pihko, H., Rosenlew, C., Cormand, B., Dobyns, W. B., Dieguez, J., Valanne, L., Joensuu, T., Lehesjoki, A.-E.
|
|
<strong>POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.</strong>
|
|
J. Med. Genet. 41: e115, 2004. Note: Electronic Article.
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|
[PubMed: 15466003]
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[Full Text: https://doi.org/10.1136/jmg.2004.020701]
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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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Endo, T.
|
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<strong>O-mannosyl glycans in mammals.</strong>
|
|
Biochim. Biophys. Acta 1473: 237-246, 1999.
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|
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|
[PubMed: 10580142]
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[Full Text: https://doi.org/10.1016/s0304-4165(99)00182-8]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others.
|
|
<strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong>
|
|
Brain 130: 2725-2735, 2007.
|
|
|
|
|
|
[PubMed: 17878207]
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|
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|
|
[Full Text: https://doi.org/10.1093/brain/awm212]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Grewal, P. K., Holzfeind, P. J., Bittner, R. E., Hewitt, J. E.
|
|
<strong>Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.</strong>
|
|
Nature Genet. 28: 151-154, 2001.
|
|
|
|
|
|
[PubMed: 11381262]
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|
|
[Full Text: https://doi.org/10.1038/88865]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hayashi, Y. K., Ogawa, M., Tagawa, K., Noguchi, S., Ishihara, T., Nonaka, I., Arahata, K.
|
|
<strong>Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.</strong>
|
|
Neurology 57: 115-121, 2001.
|
|
|
|
|
|
[PubMed: 11445638]
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|
|
[Full Text: https://doi.org/10.1212/wnl.57.1.115]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hehr, U., Uyanik, G., Gross, C., Walter, M. C., Bohring, A., Cohen, M., Oehl-Jaschkowitz, B., Bird, L. M., Shamdeen, G. M., Bogdahn, U., Schuierer, G., Topaloglu, H., Aigner, L., Lochmuller, H., Winkler, J.
|
|
<strong>Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.</strong>
|
|
Neurogenetics 8: 279-288, 2007.
|
|
|
|
|
|
[PubMed: 17906881]
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|
|
[Full Text: https://doi.org/10.1007/s10048-007-0096-y]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kano, H., Kobayashi, K., Herrmann, R., Tachikawa, M., Manya, H., Nishino, I., Nonaka, I., Straub, V., Talim, B., Voit, T., Topaloglu, H., Endo, T., Yoshikawa, H., Toda, T.
|
|
<strong>Deficiency of alpha-dystroglycan in muscle-eye-brain disease.</strong>
|
|
Biochem. Biophys. Res. Commun. 291: 1283-1286, 2002. Note: Erratum: Biochem. Biophys. Res. Commun. 293: 1579 only, 2002.
|
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|
|
[PubMed: 11883957]
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[Full Text: https://doi.org/10.1006/bbrc.2002.6608]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D.
|
|
<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
|
|
Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
|
|
|
|
|
|
[PubMed: 19299310]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000346518.68110.60]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Raducu, M., Baets, J., Fano, O., Van Coster, R., Cruces, J.
|
|
<strong>Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.</strong>
|
|
Europ. J. Hum. Genet. 20: 945-952, 2012.
|
|
|
|
|
|
[PubMed: 22419172]
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|
|
[Full Text: https://doi.org/10.1038/ejhg.2012.40]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I., Mora, M.
|
|
<strong>Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.</strong>
|
|
J. Neurol. Sci. 318: 45-50, 2012.
|
|
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|
|
|
[PubMed: 22554691]
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|
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[Full Text: https://doi.org/10.1016/j.jns.2012.04.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y. K., Manya, H., Jin, D. K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., and 9 others.
|
|
<strong>Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.</strong>
|
|
Hum. Molec. Genet. 12: 527-534, 2003.
|
|
|
|
|
|
[PubMed: 12588800]
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|
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[Full Text: https://doi.org/10.1093/hmg/ddg043]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Vervoort, V. S., Holden, K. R., Ukadike, K. C., Collins, J. S., Saul, R. A., Srivastava, A. K.
|
|
<strong>POMGnT1 gene alterations in a family with neurological abnormalities.</strong>
|
|
Ann. Neurol. 56: 143-148, 2004.
|
|
|
|
|
|
[PubMed: 15236414]
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|
|
[Full Text: https://doi.org/10.1002/ana.20172]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Wang, N. H.-H., Chen, S.-J., Yang, C.-F., Chen, H.-W., Chuang, H.-P., Lu, Y.-H., Chen, C.-H., Wu, J.-Y., Niu, D.-M., Chen, Y.-T.
|
|
<strong>Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa.</strong>
|
|
Invest. Ophthal. Vis. Sci. 57: 3601-3609, 2016.
|
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|
|
|
[PubMed: 27391550]
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|
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[Full Text: https://doi.org/10.1167/iovs.16-19463]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Xu, M., Yamada, T., Sun, Z., Eblimit, A., Lopez, I., Wang, F., Manya, H., Xu, S., Zhao, L., Li, Y., Kimchi, A., Sharon, D., Sui, R., Endo, T., Koenekoop, R. K., Chen, R.
|
|
<strong>Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.</strong>
|
|
Hum. Molec. Genet. 25: 1479-1488, 2016.
|
|
|
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|
|
[PubMed: 26908613]
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[Full Text: https://doi.org/10.1093/hmg/ddw022]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T.
|
|
<strong>Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.</strong>
|
|
Dev. Cell 1: 717-724, 2001.
|
|
|
|
|
|
[PubMed: 11709191]
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|
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[Full Text: https://doi.org/10.1016/s1534-5807(01)00070-3]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Zhang, W., Betel, D., Schachter, H.
|
|
<strong>Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.</strong>
|
|
Biochem. J. 361: 153-162, 2002.
|
|
|
|
|
|
[PubMed: 11742540]
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[Full Text: https://doi.org/10.1042/0264-6021:3610153]
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</p>
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</li>
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</ol>
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<div>
|
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<br />
|
|
</div>
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</div>
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</div>
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Marla J. F. O'Neill - updated : 09/20/2016<br>Cassandra L. Kniffin - updated : 10/23/2012<br>Cassandra L. Kniffin - updated : 11/27/2007<br>Cassandra L. Kniffin - updated : 11/1/2007<br>Cassandra L. Kniffin - updated : 11/3/2006<br>George E. Tiller - updated : 3/3/2005<br>Cassandra L. Kniffin - updated : 8/3/2004<br>Paul J. Converse - updated : 4/9/2002
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Victor A. McKusick : 4/4/2002
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carol : 03/16/2021<br>carol : 08/19/2020<br>carol : 10/09/2019<br>carol : 09/25/2018<br>carol : 09/20/2016<br>carol : 10/15/2014<br>mcolton : 10/15/2014<br>carol : 10/15/2014<br>carol : 10/2/2014<br>carol : 4/10/2013<br>terry : 4/4/2013<br>carol : 10/24/2012<br>ckniffin : 10/23/2012<br>carol : 11/10/2010<br>ckniffin : 11/8/2010<br>ckniffin : 12/4/2009<br>ckniffin : 12/29/2008<br>wwang : 12/4/2007<br>ckniffin : 11/27/2007<br>wwang : 11/26/2007<br>wwang : 11/6/2007<br>ckniffin : 11/1/2007<br>wwang : 11/9/2006<br>ckniffin : 11/3/2006<br>alopez : 9/21/2006<br>alopez : 3/9/2005<br>terry : 3/3/2005<br>tkritzer : 8/9/2004<br>ckniffin : 8/3/2004<br>mgross : 4/9/2002<br>alopez : 4/4/2002
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