6560 lines
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Entry
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- *606800 - GLUCOSIDASE, ALPHA, ACID; GAA
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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">*606800</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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/606800">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li 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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</div>
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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=ENSG00000171298;t=ENST00000302262" 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=2548" 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=606800" 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=ENSG00000171298;t=ENST00000302262" 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_000152,NM_001079803,NM_001079804,NM_001406741,NM_001406742,NR_134848,XM_047435719" 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_000152" 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=606800" 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=06006&isoform_id=06006_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/GAA" 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/31608,31609,182908,912787,10800873,26251857,114159823,119393891,119393893,119393895,119609987,119609988,119609989,221042730,317373572,2217311016,2240897219,2240897261,2318748009,2318748011,2318748013,2318748015,2462498931" 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/P10253" 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=2548" 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=ENSG00000171298;t=ENST00000302262" 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=GAA" 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=GAA" 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+2548" 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/GAA" 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:2548" 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/2548" 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=chr17&hgg_gene=ENST00000302262.8&hgg_start=80101581&hgg_end=80119881&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4065" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4065" 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://medlineplus.gov/genetics/gene/gaa" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606800[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=606800[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/GAA/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/ENSG00000171298" 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=GAA" 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=GAA" 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=GAA" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/GAA" title="GAA - Pompe disease (glycogen storage disease type II)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">GAA - Pompe disease (glyco…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=GAA" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GAA&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/PA28476" 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:4065" 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:95609" 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/GAA#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:95609" 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/2548/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://omia.org/OMIA000419/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2548" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019895;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070212-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:606800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2548" 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=GAA&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> 274864009<br />
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<strong>ICD10CM:</strong> E74.02<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606800
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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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GLUCOSIDASE, ALPHA, ACID; GAA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ACID ALPHA-GLUCOSIDASE<br />
|
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ALPHA-GLUCOSIDASE, ACID<br />
|
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ALPHA-1,4-GLUCOSIDASE<br />
|
|
ACID MALTASE
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GAA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GAA</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>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014">17q25.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:80101581-80119881&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'})">17:80,101,581-80,119,881</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
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|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
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17q25.3
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Glycogen storage disease II
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<a href="/entry/232300"> 232300 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/606800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<h4>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Alpha-1,4-glucosidase (GAA; <a href="https://enzyme.expasy.org/EC/3.2.1.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.20</a>) is a lysosomal enzyme involved in the degradation of glycogen within cellular vacuoles.</p>
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<strong>Cloning and Expression</strong>
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<p><a href="#35" class="mim-tip-reference" title="Martiniuk, F., Mehler, M., Pellicer, A., Tzall, S., La Badie, G., Hobart, C., Ellenbogen, A., Hirschhorn, R. <strong>Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.</strong> Proc. Nat. Acad. Sci. 83: 9641-9644, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3540946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3540946</a>] [<a href="https://doi.org/10.1073/pnas.83.24.9641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3540946">Martiniuk et al. (1986)</a> isolated a cDNA with the characteristics of a cDNA for lysosomal acid alpha-glucosidase. They found that this cDNA hybridized to a 3.4-kb mRNA consistent with the size of the enzyme protein (about 105 kD). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3540946" 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="Hoefsloot, L. H., Hoogeveen-Westerveld, M., Kroos, M. A., van Beeumen, J., Reuser, A. J. J., Oostra, B. A. <strong>Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.</strong> EMBO J. 7: 1697-1704, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3049072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3049072</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1988.tb02998.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3049072">Hoefsloot et al. (1988)</a> derived the amino acid sequence of acid maltase from the nucleotide sequence of cloned cDNA. The cDNA consisted of 3,636 nucleotides and hybridized with a mRNA of about 3.6 kb. A remarkable homology was observed between a soluble lysosomal alpha-glucosidase and the membrane-bound intestinal brush border sucrase-isomaltase enzyme complex. The similarity led <a href="#18" class="mim-tip-reference" title="Hoefsloot, L. H., Hoogeveen-Westerveld, M., Kroos, M. A., van Beeumen, J., Reuser, A. J. J., Oostra, B. A. <strong>Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.</strong> EMBO J. 7: 1697-1704, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3049072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3049072</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1988.tb02998.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3049072">Hoefsloot et al. (1988)</a> to propose that these enzymes derived from the same ancestral gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3049072" 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="#8" class="mim-tip-reference" title="Dennis, J. A., Moran, C., Healy, P. J. <strong>The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.</strong> Mammalian Genome 11: 206-212, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10723725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10723725</a>] [<a href="https://doi.org/10.1007/s003350010038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10723725">Dennis et al. (2000)</a> reported cDNA and genomic sequence of the bovine Gaa gene, from the initiation codon to the most 3-prime polyadenylation signal. The 2,814-bp coding sequence predicts a 937-amino acid protein, which shows 83% amino acid sequence identity to the human protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10723725" 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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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Structure</strong>
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<p><a href="#19" class="mim-tip-reference" title="Hoefsloot, L. H., Hoogeveen-Westerveld, M., Reuser, A. J. J., Oostra, B. A. <strong>Characterization of the human lysosomal alpha-glucosidase gene.</strong> Biochem. J. 272: 493-497, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2268276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2268276</a>] [<a href="https://doi.org/10.1042/bj2720493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2268276">Hoefsloot et al. (1990)</a> demonstrated that the GAA gene spans approximately 20 kb and contains 20 exons. The first exon is noncoding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101 bp. The promoter has features characteristic of a 'housekeeping' gene. The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2268276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Gene Function</strong>
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<p>Yan et al. (<a href="#52" class="mim-tip-reference" title="Yan, B., Heus, J., Lu, N., Nichols, R. C., Raben, N., Plotz, P. H. <strong>Transcriptional regulation of the human acid alpha-glucosidase gene: identification of a repressor element and its transcription factors Hes-1 and YY1.</strong> J. Biol. Chem. 276: 1789-1793, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038350</a>] [<a href="https://doi.org/10.1074/jbc.M005959200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038350">2001</a>, <a href="#53" class="mim-tip-reference" title="Yan, B., Raben, N., Lu, N., Plotz, P. H. <strong>Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.</strong> Hum. Genet. 109: 186-190, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511924</a>] [<a href="https://doi.org/10.1007/s004390100562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511924">2001</a>) identified elements within a 25-bp region of intron 1 that, when bound by either HRY (<a href="/entry/139605">139605</a>) or YY1 (<a href="/entry/600013">600013</a>), silenced GAA transcription in a hepatocyte cell line. In a later study, <a href="#54" class="mim-tip-reference" title="Yan, B., Raben, N., Plotz, P. H. <strong>Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells.</strong> Biochem. Biophys. Res. Commun. 291: 582-587, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11855828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11855828</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11855828">Yan et al. (2002)</a> found activation of GAA in human fibroblasts with HRY or YY1 binding. The authors noted that the dual function of the transcription factors is likely to contribute to subtle tissue-specific control of GAA activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11855828+11511924+11038350" 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 human-mouse somatic cell hybridization, <a href="#6" class="mim-tip-reference" title="D'Ancona, G. G., Wurm, J., Croce, C. M. <strong>Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.</strong> Proc. Nat. Acad. Sci. 76: 4526-4529, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/388444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">388444</a>] [<a href="https://doi.org/10.1073/pnas.76.9.4526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="388444">D'Ancona et al. (1979)</a> and <a href="#44" class="mim-tip-reference" title="Solomon, E., Swallow, D. M., Burgess, S., Evans, L. <strong>Assignment of the human acid alpha-glucosidase gene (alpha-GLU) to chromosome 17 using somatic cell hybrids.</strong> Ann. Hum. Genet. 42: 273-281, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/373580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">373580</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1979.tb00661.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="373580">Solomon et al. (1979)</a> assigned the gene for acid alpha-1,4-glucosidase (GAA) to chromosome 17. Mouse and human enzymes were distinguished by differences in affinity to starch gel of the rare human GAA-2 phenotype. Differences in the thermostability of the mouse and human enzymes were also exploited. They concluded that GAA is probably on 17q. By dosage effect, <a href="#42" class="mim-tip-reference" title="Sandison, A., Broadhead, D. M., Bain, A. D. <strong>Elucidation of an unbalanced chromosome translocation by gene dosage studies.</strong> Clin. Genet. 22: 30-36, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6756711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6756711</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6756711">Sandison et al. (1982)</a> narrowed the assignment of the GAA locus to 17q22-qter. By in situ hybridization, <a href="#12" class="mim-tip-reference" title="Halley, D. J. J., Konings, A., Hupkes, P., Galjaard, H. <strong>Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.</strong> Hum. Genet. 67: 326-328, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6381285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6381285</a>] [<a href="https://doi.org/10.1007/BF00291362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6381285">Halley et al. (1984)</a> mapped the GAA locus to 17q23-q25. By study of somatic cell hybrids, <a href="#34" class="mim-tip-reference" title="Martiniuk, F., Ellenbogen, A., Hirschhorn, K., Hirschhorn, R. <strong>Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.</strong> Hum. Genet. 69: 109-111, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3882552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3882552</a>] [<a href="https://doi.org/10.1007/BF00293278" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3882552">Martiniuk et al. (1985)</a> refined the regional localization of GAA to 17q21.2-q23. Combined with the assignment by <a href="#12" class="mim-tip-reference" title="Halley, D. J. J., Konings, A., Hupkes, P., Galjaard, H. <strong>Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.</strong> Hum. Genet. 67: 326-328, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6381285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6381285</a>] [<a href="https://doi.org/10.1007/BF00291362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6381285">Halley et al. (1984)</a>, this finding gives the smallest region of overlap (SRO) to be 17q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3882552+373580+388444+6381285+6756711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#29" class="mim-tip-reference" title="Kuo, W.-L., Hirschhorn, R., Huie, M. L., Hirschhorn, K. <strong>Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.</strong> Hum. Genet. 97: 404-406, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786092</a>] [<a href="https://doi.org/10.1007/BF02185782" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786092">Kuo et al. (1996)</a> mapped both GAA and the thymidine kinase gene (<a href="/entry/188300">188300</a>) to 17q25.2-q25.3 and showed that GAA is distal to TK1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786092" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#41" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p>Multiple mutations in the GAA gene have been shown to cause glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>). <a href="#35" class="mim-tip-reference" title="Martiniuk, F., Mehler, M., Pellicer, A., Tzall, S., La Badie, G., Hobart, C., Ellenbogen, A., Hirschhorn, R. <strong>Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.</strong> Proc. Nat. Acad. Sci. 83: 9641-9644, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3540946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3540946</a>] [<a href="https://doi.org/10.1073/pnas.83.24.9641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3540946">Martiniuk et al. (1986)</a> tested cell lines of 2 infantile-onset patients with alpha-glucosidase deficiency with a cDNA with characteristics of acid alpha-glucosidase. In 1 of 2 cell lines, the 3.4-kb enzyme mRNA was not detectable, whereas in an adult-onset cell line, an mRNA of reduced size and amount was found. Examination of DNA digested with restriction enzymes did not reveal any major deletions in the genomic DNA of these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3540946" 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="Hoefsloot, L. H., Hoogeveen-Westerveld, M., Kroos, M. A., van Beeumen, J., Reuser, A. J. J., Oostra, B. A. <strong>Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.</strong> EMBO J. 7: 1697-1704, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3049072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3049072</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1988.tb02998.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3049072">Hoefsloot et al. (1988)</a> found that acid maltase mRNA was absent in fibroblasts in 2 patients with glycogenosis type II. <a href="#48" class="mim-tip-reference" title="Van der Ploeg, A. T., Hoefsloot, L. H., Hoogeveen-Westerveld, M., Petersen, E. M., Reuser, A. J. J. <strong>Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.</strong> Am. J. Hum. Genet. 44: 787-793, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658562</a>]" pmid="2658562">Van der Ploeg et al. (1989)</a> demonstrated heterogeneity of this disease at the molecular level. Two affected infants from a consanguineous Indian family living in South Africa were found to have an acid alpha-glucosidase precursor of reduced size. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3049072+2658562" 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="#51" class="mim-tip-reference" title="Wokke, J. H. J., Ausems, M. G. E. M., van den Boogaard, M.-J. H., Ippel, E. F., van Diggelen, O., Kroos, M. A., Boer, M., Jennekens, F. G. I., Reuser, A. J. J., Ploos van Amstel, H. K. <strong>Genotype-phenotype correlation in adult-onset acid maltase deficiency.</strong> Ann. Neurol. 38: 450-454, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668832</a>] [<a href="https://doi.org/10.1002/ana.410380316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7668832">Wokke et al. (1995)</a> studied 16 patients with adult-onset acid maltase deficiency. All the patients were compound heterozygotes carrying a T-to-G transversion at position -13 of intron 1 (IVS1-13T-G; <a href="#0006">606800.0006</a>). Three of these patients were asymptomatic at presentation, whereas symptoms began between ages 17 and 45 in the others. Symptomatic patients presented with abnormal fatigue and/or proximal weakness in the legs. All patients deteriorated when seen at follow-up. Creatine kinase was elevated between 1.5 and 15 times the upper limit of normal, EMG showed only myopathic changes in 8 of 13 patients, and skeletal muscle biopsy specimens were histologically and histochemically normal in 3 patients. A modest decrease of alpha-glucosidase activity was demonstrated in all muscle biopsy and peripheral blood specimens. Respiratory insufficiency was never a presenting complaint, but deterioration of vital capacity was demonstrable on follow-up. Overall, the clinical course resembled that of polymyositis or limb girdle muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668832" 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 the family described by <a href="#25" class="mim-tip-reference" title="Koster, J. F., Busch, H. F. M., Slee, R. G., van Weerden, T. W. <strong>Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.</strong> Clin. Chim. Acta 87: 451-453, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28188</a>] [<a href="https://doi.org/10.1016/0009-8981(78)90191-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28188">Koster et al. (1978)</a> and <a href="#31" class="mim-tip-reference" title="Loonen, M. C. B., Schram, A. W., Koster, J. F., Niermeijer, M. F., Busch, H. F. M., Martin, J. J., Brouwer-Kelder, B., Mekes, W., Slee, R. G., Tager, J. M. <strong>Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).</strong> Clin. Genet. 19: 55-63, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7006871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7006871</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00668.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7006871">Loonen et al. (1981)</a>, <a href="#28" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J. <strong>Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.</strong> Hum. Mutat. 9: 17-22, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990003</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990003">Kroos et al. (1997)</a> demonstrated that the grandfather was a compound heterozygote for IVS1-13T-G and deletion of a single basepair, 525T (<a href="#0014">606800.0014</a>); the affected third-generation offspring with severe disease was homozygous for c.525delT mutation. The disease phenotypes in this family were in accordance with the genotypes since the intronic mutation reduced acid alpha-glucosidase synthetase by 60 to 80%, whereas the single-nucleotide deletion completely prohibited formation of catalytically active enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7006871+8990003+28188" 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="#32" class="mim-tip-reference" title="Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R. <strong>Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.</strong> Am. J. Hum. Genet. 47: 440-445, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2203258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2203258</a>]" pmid="2203258">Martiniuk et al. (1990)</a> concluded that a minimum of 6 different mutations existed among 14 GAA-deficient cell lines (<a href="#0001">606800.0001</a>). <a href="#33" class="mim-tip-reference" title="Martiniuk, F., Chen, A., Mack, A., Arvanitopoulos, E., Chen, Y., Rom, W. N., Codd, W. J., Hanna, B., Alcabes, P., Raben, N., Plotz, P. <strong>Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. (Letter)</strong> Am. J. Med. Genet. 79: 69-72, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738873</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738873">Martiniuk et al. (1998)</a> analyzed genomic DNA from 928 randomly selected normal individuals for 7 of the most common mutations in the GAA gene. These 7 mutations account for 29% of the chromosomes from infantile- and adult-onset patients, in their experience. Various racial groups were represented. Three individuals who were heterozygotes for 1 of these mutations were found among the 928 normal individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9738873+2203258" 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="#24" class="mim-tip-reference" title="Ko, T.-M., Hwu, W.-L., Lin, Y.-W., Tseng, L.-H., Hwa, H.-L., Wang, T.-R., Chuang, S.-M. <strong>Molecular genetic study of Pompe disease in Chinese patients in Taiwan.</strong> Hum. Mutat. 13: 380-384, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10338092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10338092</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10338092">Ko et al. (1999)</a> studied the molecular defect of the GAA gene in 11 unrelated Taiwanese families of Chinese origin in which at least 1 member had Pompe disease. They identified 7 different mutations in 17 alleles but failed to identify the defects in the other 5 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10338092" 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>Three mutations in the GAA gene are common in the Dutch patient population: IVS1-13T-G (<a href="#0006">606800.0006</a>), 525delT (<a href="#0014">606800.0014</a>), and EX18DEL (<a href="#0012">606800.0012</a>). Sixty-three percent of Dutch GSD II patients carry 1 or 2 of these mutations, and the genotype-phenotype correlation is known (<a href="#27" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R. <strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong> J. Med. Genet. 32: 836-837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>] [<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558570">Kroos et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Hermans, M. M. P., van Leenen, D., Kroos, M. A., Beesley, C. E., Van der Ploeg, A. T., Sakuraba, H., Wevers, R., Kleijer, W., Michelakakis, H., Kirk, E. P., Fletcher, J., Bosshard, N., Basel-Vanagaite, L., Besley, G., Reuser, A. J. J. <strong>Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.</strong> Hum. Mutat. 23: 47-56, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14695532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14695532</a>] [<a href="https://doi.org/10.1002/humu.10286" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14695532">Hermans et al. (2004)</a> investigated 29 cases of type II glycogen storage disease and identified 55 pathogenic mutations of the GAA gene. There were 34 different mutations identified, 22 of which were novel. All of the missense mutations and 2 other mutations with an unpredictable effect on acid alpha-glucosidase synthesis and function were transiently expressed in COS cells. The effect of a novel splice site mutation was investigated by real-time PCR analysis. These analyses supported the notion that the clinical phenotype of GSD II is largely dictated by the nature of the mutations in the GAA alleles. Of the 29 patients with widely diverse ethnicity, 18 were classified as suffering from the infantile form, 9 were classified as juvenile, and 2 were of the adult type, 1 of them having onset presumably at the age of 65 years. The cases were classified as infantile when onset was in the first half year of life with cardiomegaly and less than 1.5 years survival. The juvenile form was used as a category when onset was after the first year, but before adulthood, and survival was prolonged. Adult type GSD II was onset after 20 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14695532" 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>Among 40 Italian patients with late-onset GSD II, <a href="#36" class="mim-tip-reference" title="Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M. G. <strong>Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.</strong> Hum. Mutat. 27: 999-1006, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16917947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16917947</a>] [<a href="https://doi.org/10.1002/humu.20374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16917947">Montalvo et al. (2006)</a> identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was IVS1-13T-G (<a href="#0006">606800.0006</a>), present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16917947" 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="Gort, L., Coll, M. J., Chabas, A. <strong>Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G-C mutation.</strong> Molec. Genet. Metab. 92: 183-187, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17616415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17616415</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.05.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17616415">Gort et al. (2007)</a> identified 23 GAA mutations, 9 of which were novel, among 22 Spanish patients with GSD II. The 2 most common mutations were splice site mutations (<a href="#0006">606800.0006</a> and <a href="#0018">606800.0018</a>), occurring at frequencies of 25% and 14%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17616415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 84 patients with Pompe disease who carried the common IVS1-13T-G mutation, <a href="#13" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> identified 4 patients who were compound heterozygous for a different second GAA mutation and had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). <a href="#13" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655185" 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="de Faria, D. O. S., in 't Groen, S. L. M., Hoogeveen-Westerveld, M., Nino, M. Y., van der Ploeg, A. T., Bergsma, A. J., Pijnappel, W. W. M. P. <strong>Update of the Pompe variant database for the prediction of clinical phenotypes: novel disease-associated variants, common sequence variants, and results from newborn screening.</strong> Hum. Mutat. 42: 119-134, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33560568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33560568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33560568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.24148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33560568">De Faria et al. (2021)</a> reported an update to the 2016 Pompe disease GAA variant database, which included a literature search of relevant articles up to January 2020. The updated database contained a total of 648 disease-associated mutations in the GAA gene, 26 mutations that were identified via newborn screening but with an unknown disease association, and 237 additional mutations with an unknown disease association. Of the 648 disease-associated mutations in the GAA gene, 336 could be associated with a clinical phenotype, including 266 patients with classic infantile disease, 11 patients with classic infantile or childhood disease, 32 patients with childhood disease, 15 patients with childhood or adult disease, and 12 patients with adult disease. Missense mutations were enriched in the catalytic core of the GAA enzyme. <a href="#7" class="mim-tip-reference" title="de Faria, D. O. S., in 't Groen, S. L. M., Hoogeveen-Westerveld, M., Nino, M. Y., van der Ploeg, A. T., Bergsma, A. J., Pijnappel, W. W. M. P. <strong>Update of the Pompe variant database for the prediction of clinical phenotypes: novel disease-associated variants, common sequence variants, and results from newborn screening.</strong> Hum. Mutat. 42: 119-134, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33560568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33560568</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33560568[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.24148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33560568">De Faria et al. (2021)</a> additionally tested the enzyme activity of GAA with the following mutations in COS-7 cells: C103G, G219R, R224W, L552P, and R600C. All the mutations fully abrogated enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33560568" 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="Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D. <strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong> Genes 11: 135, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>] [<a href="https://doi.org/10.3390/genes11020135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32012848">Aung-Htut et al. (2020)</a> identified biallelic mutations in the GAA gene in 3 unrelated patients (patients 1, 2, and 9) with adult-onset Pompe disease. All 3 patients had compound heterozygous mutations in the GAA gene, with 1 of the mutations in each being the common IVS1-13T-G (<a href="#0006">606800.0006</a>). The second mutation in patient 1 was Q692X (<a href="#0019">606800.0019</a>), the second mutation in patient 2 was Leu637_Val639del (<a href="#0020">606800.0020</a>), and the second mutation in patient 9 was P361R (<a href="#0021">606800.0021</a>). Full-length GAA protein content was reduced in fibroblasts from all 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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="#40" class="mim-tip-reference" title="Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., LaMarca, M., King, C., Ward, J., Sauer, B., Plotz, P. <strong>Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.</strong> J. Biol. Chem. 273: 19086-19092, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668092</a>] [<a href="https://doi.org/10.1074/jbc.273.30.19086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668092">Raben et al. (1998)</a> found that Gaa-null mice accumulated glycogen in cardiac and skeletal muscle lysosomes by 3 weeks of age, with a progressive increase thereafter. By 3.5 weeks of age, these mice had markedly reduced mobility and strength. They grew normally, however, reached adulthood, remained fertile, and, as in the human adult disease, older mice accumulated glycogen in the diaphragm. By 8 to 9 months of age, the animals developed obvious muscle wasting and a weak, waddling gait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9668092" 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="#8" class="mim-tip-reference" title="Dennis, J. A., Moran, C., Healy, P. J. <strong>The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.</strong> Mammalian Genome 11: 206-212, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10723725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10723725</a>] [<a href="https://doi.org/10.1007/s003350010038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10723725">Dennis et al. (2000)</a> identified mutations in the bovine Gaa gene that led to generalized glycogenosis in the Brahman and Shorthorn breeds. All 3 mutations resulted in premature termination of translation. The authors also presented evidence for a missense mutation segregating with the Brahman population, which is responsible for a 70 to 80% reduction in alpha-glucosidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10723725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using Gaa-knockout mice and transgenes containing cDNA for the human enzyme under muscle- or liver-specific promoters controlled by tetracycline, <a href="#39" class="mim-tip-reference" title="Raben, N., Lu, N., Nagaraju, K., Rivera, Y., Lee, A., Yan, B., Byrne, B., Meikle, P. J., Umapathysivam, K., Hopwood, J. J., Plotz, P. H. <strong>Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.</strong> Hum. Molec. Genet. 10: 2039-2047, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590121</a>] [<a href="https://doi.org/10.1093/hmg/10.19.2039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590121">Raben et al. (2001)</a> demonstrated that the liver provided enzyme far more efficiently. The achievement of therapeutic levels with skeletal muscle transduction required the entire muscle mass to produce high levels of enzyme of which little found its way to the plasma, whereas liver, comprising less than 5% of body weight, secreted 100-fold more enzyme, all of which was in the active 110-kD precursor form. Skeletal and cardiac muscle pathology was completely reversible if the treatment was begun early. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590121" 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="#9" class="mim-tip-reference" title="DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J. <strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong> Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19474295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19474295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19474295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19474295">DeRuisseau et al. (2009)</a> found that Gaa-null mice had increased glycogen levels in cervical spinal cord motor neurons and larger soma size of phrenic neurons. Gaa-null mice had decreased ventilation during quiet breathing and under hypercapnic challenge compared to wildtype mice, indicating respiratory insufficiency. Mice with skeletal muscle-specific Gaa (MTP) expression showed normal diaphragm force generation similar to wildtype mice, but 30% decreased ventilation during quiet breathing, similar to Gaa-null mice. The compromised ventilation observed in both mutant mouse models was associated with decreased phrenic nerve motor output. Spinal cord samples from a patient with Pompe disease showed increased neuronal glycogen. <a href="#9" class="mim-tip-reference" title="DeRuisseau, L. R., Fuller, D. D., Qiu, K., DeRuisseau, K. C., Donnelly, W. H., Jr., Mah, C., Reier, P. J., Byrne, B. J. <strong>Neural deficits contribute to respiratory insufficiency in Pompe disease.</strong> Proc. Nat. Acad. Sci. 106: 9419-9424, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19474295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19474295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19474295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19474295">DeRuisseau et al. (2009)</a> suggested that respiratory impairment in individuals with Pompe disease results from a combination of muscular and neural deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19474295" 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="Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E. <strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong> Hum. Molec. Genet. 19: 684-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19959526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19959526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19959526[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/ddp535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19959526">Douillard-Guilloux et al. (2010)</a> analyzed the effect of a complete genetic elimination of glycogen synthesis in a murine GSDII model. Gaa/Gys1 (<a href="/entry/138570">138570</a>) double-knockout mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly. In addition, the abnormalities in glucose metabolism and insulin tolerance observed in the GSDII model were corrected in Gaa/Gys1 double-knockout mice. Muscle atrophy observed in 11-month-old GSDII mice was less pronounced in Gaa/Gys1 double-knockout mice, resulting in improved exercise capacity. <a href="#10" class="mim-tip-reference" title="Douillard-Guilloux, G., Raben, N., Takikita, S., Ferry, A., Vignaud, A., Guillet-Deniau, I., Favier, M., Thurberg, B. L., Roach, P. J., Caillaud, C., Richard, E. <strong>Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.</strong> Hum. Molec. Genet. 19: 684-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19959526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19959526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19959526[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/ddp535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19959526">Douillard-Guilloux et al. (2010)</a> concluded that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in the GSDII mouse model and offers a novel perspective for the treatment of Pompe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19959526" 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> rs1800299 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800299;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/rs1800299?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=rs1800299" 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=rs1800299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>Alpha-glucosidase (GAA) exhibits a genetic polymorphism, with 3 alleles (GAA*1, GAA*2, and GAA*4) segregating in the population. GAA*2 allozyme can be identified by starch-gel electrophoresis, since the enzyme has less affinity for the starch and thus migrates more rapidly to the anode despite its basic pI. <a href="#32" class="mim-tip-reference" title="Martiniuk, F., Bodkin, M., Tzall, S., Hirschhorn, R. <strong>Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.</strong> Am. J. Hum. Genet. 47: 440-445, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2203258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2203258</a>]" pmid="2203258">Martiniuk et al. (1990)</a> demonstrated a 271G-A transition in the GAA gene, resulting in an asp91-to-asn (D91N) substitution, as the basis for this feature. The bp substitution abolished a TaqI site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2203258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with infantile-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>), <a href="#55" class="mim-tip-reference" title="Zhong, N., Martiniuk, F., Tzall, S., Hirschhorn, R. <strong>Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.</strong> Am. J. Hum. Genet. 49: 635-645, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1652892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1652892</a>]" pmid="1652892">Zhong et al. (1991)</a> identified a 953T-C transition in the GAA gene, resulting in a met318-to-thr (M318T) substitution. The mutation was not detected in 37 additional GAA-deficient chromosomes. The patient was a genetic compound with the second allele expressing almost no GAA mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1652892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</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> rs121907937 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907937;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/rs121907937?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=rs121907937" 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=rs121907937" 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=RCV000004237 OR RCV000169465 OR RCV003137489" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004237, RCV000169465, RCV003137489" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004237...</a>
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<p>In 2 children affected with Pompe disease (GSD2; <a href="/entry/232300">232300</a>) from a consanguineous Indian family, <a href="#15" class="mim-tip-reference" title="Hermans, M. M. P., de Graaff, E., Kroos, M. A., Wisselaar, H. A., Oostra, B. A., Reuser, A. J. J. <strong>Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.</strong> Biochem. Biophys. Res. Commun. 179: 919-926, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898413</a>] [<a href="https://doi.org/10.1016/0006-291x(91)91906-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1898413">Hermans et al. (1991)</a> identified a homozygous G-to-A transition in exon 11 of the GAA gene, resulting in a glu521-to-lys (E521K) substitution, just 3 amino acids downstream from the catalytic site of the enzyme at asp518. Both parents were heterozygous for the mutant allele. Functional expression studies showed that the E521K mutation caused abnormal physical properties of the enzyme precursor in the patients and prevented formation of a catalytically active enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs28937909 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937909;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/rs28937909?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=rs28937909" 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=rs28937909" 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=RCV000004238 OR RCV000409137 OR RCV000788193" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004238, RCV000409137, RCV000788193" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004238...</a>
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<p>In a patient with an adult form of glycogen storage disease type II (GSD2; <a href="/entry/232300">232300</a>), case 1 reported by <a href="#45" class="mim-tip-reference" title="Trend, P. St. J., Wiles, C. M., Spencer, G. T., Morgan-Hughes, J. A., Lake, B. D., Patrick, A. D. <strong>Acid maltase deficiency in adults: diagnosis and management in five cases.</strong> Brain 108: 845-860, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3865697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3865697</a>] [<a href="https://doi.org/10.1093/brain/108.4.845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3865697">Trend et al. (1985)</a>, <a href="#16" class="mim-tip-reference" title="Hermans, M. M. P., Kroos, M. A., de Graaff, E., Oostra, B. A., Reuser, A. J. J. <strong>Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.</strong> Hum. Mutat. 2: 268-273, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401535</a>] [<a href="https://doi.org/10.1002/humu.1380020406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401535">Hermans et al. (1993)</a> demonstrated compound heterozygosity for 2 mutations in the GAA gene: a 1927G-A transition in exon 14, resulting in a gly643-to-arg (G643R) substitution, and a 2173C-T transition in exon 15, resulting in an arg725-to-trp (R725W; <a href="#0005">606800.0005</a>) substitution. Functional expression studies showed that neither mutation interfered with the synthesis of mutant enzyme precursors, but both were associated with impairment of intracellular transport and maturation. As a result, there was an overall deficiency of catalytic activity. Residual enzyme activity in the patient was at the 1 to 2% level. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8401535+3865697" 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 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs121907938 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907938;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/rs121907938?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=rs121907938" 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=rs121907938" 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=RCV000004239 OR RCV000169045 OR RCV001569366" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004239, RCV000169045, RCV001569366" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004239...</a>
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<p>For discussion of the 2173C-T transition in exon 15 of the GAA gene, resulting in an arg725-to-trp (R725W) substitution, that was found in compound heterozygous state in a patient with an adult form of glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) by <a href="#16" class="mim-tip-reference" title="Hermans, M. M. P., Kroos, M. A., de Graaff, E., Oostra, B. A., Reuser, A. J. J. <strong>Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.</strong> Hum. Mutat. 2: 268-273, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401535</a>] [<a href="https://doi.org/10.1002/humu.1380020406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401535">Hermans et al. (1993)</a>, see <a href="#0004">606800.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401535" 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 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
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GAA, IVS1AS, T-G, -13
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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> rs386834236 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834236;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/rs386834236?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=rs386834236" 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=rs386834236" 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=RCV000004242 OR RCV000055770 OR RCV000153285 OR RCV000626740 OR RCV002225068 OR RCV002288463 OR RCV002321471 OR RCV003415646 OR RCV004797752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004242, RCV000055770, RCV000153285, RCV000626740, RCV002225068, RCV002288463, RCV002321471, RCV003415646, RCV004797752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004242...</a>
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<p>In 2 patients with the adult-onset form of glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>), <a href="#22" class="mim-tip-reference" title="Huie, M. L., Chen, A. S., Tsujino, S., Shanske, S., DiMauro, S., Engel, A. G., Hirschhorn, R. <strong>Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T to G) mutation in a majority of patients and a novel IVS10 (+GT to CT) mutation.</strong> Hum. Molec. Genet. 3: 2231-2236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881425</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881425">Huie et al. (1994)</a> identified a T-to-G transversion at position -13 of the acceptor site of intron 1 of the GAA gene, resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2. <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N. <strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong> Am. J. Hum. Genet. 56: 887-897, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>]" pmid="7717400">Boerkoel et al. (1995)</a> reported an adult woman heterozygous for this mutation with a low level of active enzyme (12% of normal) that was generated from the leakage of normally spliced mRNA and sustained the patient to adult life. The patient was a genetic compound for deletion of exon 18 of the GAA gene (<a href="#0012">606800.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7881425+7717400" 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="#27" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R. <strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong> J. Med. Genet. 32: 836-837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>] [<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558570">Kroos et al. (1995)</a> identified the IVS1 splice site mutation in 38 of 50 heterozygous persons with the adult form of GSD II and in 4 of 13 heterozygous patients with the juvenile form, but did not find the mutation in patients with the infantile form. Patients with deletion of exon 18 or deletion of 525T (<a href="#0014">606800.0014</a>) in combination with the IVS1-13T-G transversion had the juvenile or the adult form, suggesting that the intronic mutation was a mild mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558570" 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>Among 40 Italian patients with late-onset GSD II, <a href="#36" class="mim-tip-reference" title="Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M. G. <strong>Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.</strong> Hum. Mutat. 27: 999-1006, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16917947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16917947</a>] [<a href="https://doi.org/10.1002/humu.20374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16917947">Montalvo et al. (2006)</a> identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was IVS1-13T-G, present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16917947" 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="#26" class="mim-tip-reference" title="Kroos, M. A., Pomponio, R. J., Hagemans, M. L., Keulemans, J. L. M., Phipps, M., DeRiso, M., Palmer, R. E., Ausems, M. G. E. M., Van der Beek, N. A. M. E., Van Diggelen, O. P., Halley, D. J. J., Van der Ploeg, A. T., Reuser, A. J. J. <strong>Broad spectrum of Pompe disease in patients with the same c.-32-13T-G haplotype.</strong> Neurology 68: 110-115, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17210890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17210890</a>] [<a href="https://doi.org/10.1212/01.wnl.0000252798.25690.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17210890">Kroos et al. (2007)</a> reported 98 Caucasian GSD II patients who were compound heterozygous for the -13T-G transversion and a second fully deleterious mutation in the GAA gene. None had the infantile form of the disease, but age at onset ranged from less than 1 to 52 years. Alpha-glucosidase activity ranged from about 3 to 20% of normal, and clinical features varied far more than anticipated, although the disease course in general was slowly progressive. Twelve different -13T-G haplotypes were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17210890" 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="Gort, L., Coll, M. J., Chabas, A. <strong>Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G-C mutation.</strong> Molec. Genet. Metab. 92: 183-187, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17616415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17616415</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.05.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17616415">Gort et al. (2007)</a> identified the -13T-G mutation in 25% of mutant alleles from 22 Spanish patients with GSD II. All had the same haplotype, indicating a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17616415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 84 patients with Pompe disease who carried the common IVS1-13T-G mutation, <a href="#13" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> identified 4 patients who were compound heterozygous for a different second GAA mutation and had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). <a href="#13" class="mim-tip-reference" title="Herbert, M., Case, L. E., Rairikar, M., Cope, H., Bailey, L., Austin, S. L., Kishnani, P. S. <strong>Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13T-G variant.</strong> Molec. Genet. Metab. 126: 106-116, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655185</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.08.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655185">Herbert et al. (2019)</a> concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655185" 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 3 patients (patients 1, 2, and 9) with adult-onset Pompe disease, <a href="#2" class="mim-tip-reference" title="Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D. <strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong> Genes 11: 135, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>] [<a href="https://doi.org/10.3390/genes11020135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32012848">Aung-Htut et al. (2020)</a> identified compound heterozygosity for the IVS1-13T-G mutation and 3 different mutations in the GAA gene. Patient 1 also carried a c.2074C-T transition resulting in a gln692-to-ter (Q692X; <a href="#0019">606800.0019</a>) early termination. Patient 2 also carried a 9-bp deletion (c.1910_1918del) resulting in deletion of residues Leu637_Val639 (<a href="#0020">606800.0020</a>). Patient 9 also carried a c.1082C-G transversion resulting in a pro361-to-arg (P361R; <a href="#0021">606800.0021</a>) mutation. The mutations, which were identified by sequencing of DNA and RNA from patient fibroblasts, were confirmed by Sanger sequencing. Full-length GAA protein content was reduced in fibroblasts from all 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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">rs121907939 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907939;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=rs121907939" 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=rs121907939" 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=RCV000004243 OR RCV001376754" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004243, RCV001376754" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004243...</a>
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<p>For discussion of the lys903del mutation in the GAA gene that was found in compound heterozygous state in a patient with Pompe disease (GSD2; <a href="/entry/232300">232300</a>) by <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N. <strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong> Am. J. Hum. Genet. 56: 887-897, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>]" pmid="7717400">Boerkoel et al. (1995)</a>, see <a href="#0012">606800.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717400" 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">rs121907940 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907940;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=rs121907940" 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=rs121907940" 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=RCV000004240 OR RCV000795023" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004240, RCV000795023" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004240...</a>
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<p>For discussion of the leu299-to-arg (L299R) mutation in the GAA gene that was found in compound heterozygous state in a patient with Pompe disease (GSD2; <a href="/entry/232300">232300</a>) by <a href="#5" class="mim-tip-reference" title="Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N. <strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong> Am. J. Hum. Genet. 56: 887-897, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>]" pmid="7717400">Boerkoel et al. (1995)</a>, see <a href="#0012">606800.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717400" 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">rs121907941 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907941;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=rs121907941" 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=rs121907941" 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=RCV000004241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004241</a>
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<p>In a Japanese patient with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>), <a href="#46" class="mim-tip-reference" title="Tsunoda, H., Ohshima, J., Tohyama, J., Sasaki, M., Sakuragawa, N., Martiniuk, F. <strong>Acid-alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.</strong> Hum. Genet. 97: 496-499, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834250</a>] [<a href="https://doi.org/10.1007/BF02267074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834250">Tsunoda et al. (1996)</a> identified a change of nucleotides 1585 and 1586 from TC to GT in the GAA gene. The mutation resulted in a ser529-to-val (S529V) substitution. A study of transient expression of the mutant allele indicated that the S529V substitution resulted in loss of catalytic activity of the enzyme. The patient developed skeletal muscle weakness at 28 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8834250" 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 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</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> rs28940868 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940868;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/rs28940868?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=rs28940868" 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=rs28940868" 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=RCV000004244 OR RCV000055768 OR RCV001785448 OR RCV004018551 OR RCV004751197" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004244, RCV000055768, RCV001785448, RCV004018551, RCV004751197" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004244...</a>
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<p><a href="#30" class="mim-tip-reference" title="Lin, C.-Y., Shieh, J.-J. <strong>Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.</strong> Acta Paediat. Sin. 37: 115-121, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8935410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8935410</a>]" pmid="8935410">Lin and Shieh (1996)</a> identified a 1935C-A transversion at the 5-prime end of exon 14 in the GAA gene in 4 Chinese patients with the infantile form of Pompe disease (GSD2; <a href="/entry/232300">232300</a>) in Taiwan. This change resulted in an asp645-to-glu (D645E) substitution. The mutation was found in 20 of 25 additional Chinese patients with Pompe disease, but not in 40 healthy controls. <a href="#30" class="mim-tip-reference" title="Lin, C.-Y., Shieh, J.-J. <strong>Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.</strong> Acta Paediat. Sin. 37: 115-121, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8935410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8935410</a>]" pmid="8935410">Lin and Shieh (1996)</a> concluded that the D645E substitution is the main mutation responsible for Pompe disease in Chinese infants in Taiwan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8935410" 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="#43" class="mim-tip-reference" title="Shieh, J.-J., Lin, C.-Y. <strong>Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.</strong> Hum. Mutat. 11: 306-312, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554747</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9554747">Shieh and Lin (1998)</a> identified the D645E mutation in 19 of 25 Chinese Pompe patients in heterozygous or homozygous state. All the mutant alleles in these patients were linked to a specific haplotype, which had a frequency of 0.95 in the 19 Chinese patients and 0.17 in 42 healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9554747" 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> rs1800309 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800309;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/rs1800309?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=rs1800309" 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=rs1800309" 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=RCV000004245 OR RCV000078165 OR RCV000383641 OR RCV000675237 OR RCV002415397" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004245, RCV000078165, RCV000383641, RCV000675237, RCV002415397" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004245...</a>
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<p>The normal population exhibits 3 genetic biochemical polymorphic GAA allozymes, GAA*1, GAA*2, and GAA*4, with gene frequencies of 0.9, 0.03, and 0.06, respectively. The molecular basis of the GAA*2 allozyme is a 271A-G transition (<a href="#0001">606800.0001</a>) leading to a D91N amino acid substitution as compared with the more common GAA*1 allozyme. <a href="#23" class="mim-tip-reference" title="Huie, M. L., Menaker, M., McAlpine, P. J., Hirschhorn, R. <strong>Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).</strong> Ann. Hum. Genet. 60: 365-368, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8912788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8912788</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1996.tb00433.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8912788">Huie et al. (1996)</a> demonstrated that the molecular basis of the GAA*4 allozyme is a 2065G-A transition, predicting a glu689-to-lys (E689K) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8912788" 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">rs1555603048 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555603048;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=rs1555603048" 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=rs1555603048" 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=RCV000004246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004246</a>
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<p><a href="#47" class="mim-tip-reference" title="Van der Kraan, M., Kroos, M. A., Joosse, M., Bijvoet, A. G. A., Verbeet, M. P., Kleijer, W. J., Reuser, A. J. J. <strong>Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.</strong> Biochem. Biophys. Res. Commun. 203: 1535-1541, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945303</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7945303">Van der Kraan et al. (1994)</a> reported that deletion of exon 18 of the GAA gene is a frequent mutation in Pompe disease (GSD2; <a href="/entry/232300">232300</a>). <a href="#22" class="mim-tip-reference" title="Huie, M. L., Chen, A. S., Tsujino, S., Shanske, S., DiMauro, S., Engel, A. G., Hirschhorn, R. <strong>Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T to G) mutation in a majority of patients and a novel IVS10 (+GT to CT) mutation.</strong> Hum. Molec. Genet. 3: 2231-2236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881425</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881425">Huie et al. (1994)</a> found this mutation in patients with both infantile and adult forms of this disease. <a href="#49" class="mim-tip-reference" title="Vorgerd, M., Burwinkel, B., Reichmann, H., Malin, J.-P., Kilimann, M. W. <strong>Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.</strong> Neurogenetics 1: 205-211, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737124</a>] [<a href="https://doi.org/10.1007/s100480050030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737124">Vorgerd et al. (1998)</a> found homozygosity for the exon 18 deletion in 2 affected sibs and an unrelated patient with adult-type GSD II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7945303+7881425+10737124" 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="Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N. <strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong> Am. J. Hum. Genet. 56: 887-897, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>]" pmid="7717400">Boerkoel et al. (1995)</a> found a deletion of exon 18 of the GAA gene in 3 unrelated compound heterozygous patients, 2 of whom were infants, and 1 an adult. The second mutation in each of these patients was different. The infants with Pompe disease were French Canadian and Dutch. The adult was a woman of German extraction who had first consulted her physician at age 39 years for progressive proximal muscle weakness and respiratory insufficiency. In retrospect, she could recall limitation in her activity as far back as early adulthood. In one of the infants, there was deletion of lys903 (<a href="#0007">606800.0007</a>); in the other, there was a leu299-to-arg substitution (<a href="#0008">606800.0008</a>). In the adult, the authors observed a T-to-G transversion at position -13 of intron 1 (<a href="#0006">606800.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717400" 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>Although <a href="#27" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R. <strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong> J. Med. Genet. 32: 836-837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>] [<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558570">Kroos et al. (1995)</a> found deletion of exon 18 in the infantile and adult forms of the disease, those homozygous for this mutation and heterozygous for this mutation in combination with deletion of 525T (<a href="#0014">606800.0014</a>) had the infantile form of Pompe disease; however, patients with deletion of exon 18 or deletion of 525T in combination with transversion of T to G at position -13 (<a href="#0006">606800.0006</a>) had the juvenile or the adult form, suggesting that the intronic mutation was a mild mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558570" 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 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs121907942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907942;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/rs121907942?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=rs121907942" 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=rs121907942" 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=RCV000004247 OR RCV001174962 OR RCV001785449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004247, RCV001174962, RCV001785449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004247...</a>
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<p>In a woman with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>), <a href="#14" class="mim-tip-reference" title="Hermans, M. M. P., De Graaff, E., Kroos, M. A., Mohkamsing, S., Eussen, B. J., Joosse, M., Willemsen, R., Kleijer, W. J., Oostra, B. A., Reuser, A. J. J. <strong>The effect of a single base pair deletion (delta-T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.</strong> Hum. Molec. Genet. 3: 2213-2218, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881422</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881422">Hermans et al. (1994)</a> identified a homozygous 1634C-T transition in the GAA gene, resulting in a pro545-to-leu (P545L) substitution. She was diagnosed at age 42 years and died at age 51 years. This mutation was compatible with normal synthesis, but hindered enzyme activity and resulted in 92% loss of GAA activity. Another unrelated girl with juvenile-onset GSD II was compound heterozygous for P545L and 525delT (<a href="#0014">606800.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881422" 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> rs386834235 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs386834235;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/rs386834235?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=rs386834235" 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=rs386834235" 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=RCV000004248 OR RCV000078181 OR RCV004797753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004248, RCV000078181, RCV004797753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004248...</a>
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<p>In a girl with the juvenile form of Pompe disease (GSD2; <a href="/entry/232300">232300</a>), <a href="#14" class="mim-tip-reference" title="Hermans, M. M. P., De Graaff, E., Kroos, M. A., Mohkamsing, S., Eussen, B. J., Joosse, M., Willemsen, R., Kleijer, W. J., Oostra, B. A., Reuser, A. J. J. <strong>The effect of a single base pair deletion (delta-T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.</strong> Hum. Molec. Genet. 3: 2213-2218, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881422</a>] [<a href="https://doi.org/10.1093/hmg/3.12.2213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881422">Hermans et al. (1994)</a> identified compound heterozygosity for 2 mutations in the GAA gene: P545L (<a href="#0013">606800.0013</a>) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881422" 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="#27" class="mim-tip-reference" title="Kroos, M. A., Van der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van den Boogaard, M. J., Ausems, M. G. E. M., Ploos van Amstel, H. K., Poenaru, L., Nicolino, M., Wevers, R. <strong>Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.</strong> J. Med. Genet. 32: 836-837, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558570</a>] [<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558570">Kroos et al. (1995)</a> reported that although the 525delT mutation was equally frequent (0.11 to 0.16) in all clinical forms of glycogen storage disease II, all 5 patients homozygous for this mutation had the infantile form with less than 1% GAA activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558570" 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 GLYCOGEN STORAGE DISEASE II</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> rs121907943 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907943;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/rs121907943?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=rs121907943" 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=rs121907943" 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=RCV000004249 OR RCV000255539 OR RCV003904805 OR RCV004991965" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004249, RCV000255539, RCV003904805, RCV004991965" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004249...</a>
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<p><a href="#3" class="mim-tip-reference" title="Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H. <strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong> Am. J. Hum. Genet. 62: 991-994, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529346</a>] [<a href="https://doi.org/10.1086/301788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529346">Becker et al. (1998)</a> found a high frequency of the arg854-to-ter (R854X) mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) in various African populations and in African American patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529346" 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 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs121907944 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907944;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/rs121907944?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=rs121907944" 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=rs121907944" 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=RCV000004250 OR RCV000664615 OR RCV002265547 OR RCV003329226 OR RCV004751198" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004250, RCV000664615, RCV002265547, RCV003329226, RCV004751198" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004250...</a>
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<p>In a patient with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>), <a href="#1" class="mim-tip-reference" title="Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H. <strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong> Neurology 64: 368-370, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149528.95362.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668445">Anneser et al. (2005)</a> identified compound heterozygosity for 2 mutations in the GAA gene: a 719C-T transition in exon 4, resulting in an ala237-to-val (A237V) substitution, and an 877G-A transition in exon 5, resulting in a gly293-to-arg (G293R; <a href="#0017">606800.0017</a>) substitution. Neither mutation was identified in 40 control individuals. The patient had dilatative angiopathy of the intracerebral vessels, especially of the basilar artery, with calcifications of the carotid and medial cerebral arteries, and had experienced several stroke-like episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668445" 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 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs121907945 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121907945;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/rs121907945?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=rs121907945" 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=rs121907945" 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=RCV000004251 OR RCV000578430 OR RCV000728952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004251, RCV000578430, RCV000728952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004251...</a>
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<p>For discussion of the 877G-A transition in exon 5 of the GAA gene, resulting in a gly293-to-arg substitution, that was found in compound heterozygous state in a patient with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) by <a href="#1" class="mim-tip-reference" title="Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H. <strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong> Neurology 64: 368-370, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149528.95362.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668445">Anneser et al. (2005)</a>, see <a href="#0016">606800.0016</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668445" 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">rs1555600050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555600050;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=rs1555600050" 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=rs1555600050" 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=RCV000666182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000666182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000666182</a>
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<p><a href="#11" class="mim-tip-reference" title="Gort, L., Coll, M. J., Chabas, A. <strong>Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G-C mutation.</strong> Molec. Genet. Metab. 92: 183-187, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17616415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17616415</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.05.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17616415">Gort et al. (2007)</a> identified a G-to-C transversion in intron 6 of the GAA gene (1076-1G-C) in 14% of mutant alleles among 22 Spanish patients with glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>). One patient who was homozygous for the mutation had severe infantile onset, with cardiomyopathy, cardiomegaly, and hepatomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17616415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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">rs2039287628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2039287628;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=rs2039287628" 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=rs2039287628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001056322 OR RCV004794470" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001056322, RCV004794470" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001056322...</a>
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<p>For a discussion of the c.2074C-T transition (c.2074C-T, NM_000152.4) in the GAA gene resulting in a gln692-to-ter (Q692X) that was identified in compound heterozygous state in patient 1 with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) by <a href="#2" class="mim-tip-reference" title="Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D. <strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong> Genes 11: 135, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>] [<a href="https://doi.org/10.3390/genes11020135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32012848">Aung-Htut et al. (2020)</a>, see <a href="#0006">606800.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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>.0020 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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">rs2039275157 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2039275157;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=rs2039275157" 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=rs2039275157" 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=RCV001078140 OR RCV004794471" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001078140, RCV004794471" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001078140...</a>
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<p>For a discussion of the 9-bp deletion (c.1910_1918del, NM_000152.4) in the GAA gene resulting in deletion of residues Leu637_Val639 that was identified in compound heterozygous state in patient 2 with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) by <a href="#2" class="mim-tip-reference" title="Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D. <strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong> Genes 11: 135, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>] [<a href="https://doi.org/10.3390/genes11020135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32012848">Aung-Htut et al. (2020)</a>, see <a href="#0006">606800.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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>.0021 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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> rs755253527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs755253527;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/rs755253527?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=rs755253527" 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=rs755253527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000382384 OR RCV001078141 OR RCV004794384" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000382384, RCV001078141, RCV004794384" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000382384...</a>
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<p>For a discussion of the c.1082C-G transversion (c.1082C-G, NM_000152.4) in the GAA gene resulting in a pro361-to-arg (P361R) that was identified in compound heterozygous state in patient 9 with adult-onset glycogen storage disease II (GSD2; <a href="/entry/232300">232300</a>) by <a href="#2" class="mim-tip-reference" title="Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D. <strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong> Genes 11: 135, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>] [<a href="https://doi.org/10.3390/genes11020135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32012848">Aung-Htut et al. (2020)</a>, see <a href="#0006">606800.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Beratis1980" class="mim-tip-reference" title="Beratis, N. G., LaBadie, G. U., Hirschhorn, K. <strong>An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.</strong> Am. J. Hum. Genet. 32: 137-149, 1980.">Beratis et al. (1980)</a>; <a href="#Hoefsloot1990" class="mim-tip-reference" title="Hoefsloot, L. H., van der Ploeg, A. T., Kroos, M. A., Hoogeveen-Westerveld, M., Oostra, B. A., Reuser, A. J. J. <strong>Adult and infantile glycogenosis type II in one family, explained by allelic diversity.</strong> Am. J. Hum. Genet. 46: 45-52, 1990.">Hoefsloot et al. (1990)</a>; <a href="#Honig1984" class="mim-tip-reference" title="Honig, J., Martiniuk, F., D'Eustachio, P., Zamfirescu, C., Desnick, R., Hirschhorn, K., Hirschhorn, L. R., Hirschhorn, R. <strong>Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization.</strong> Ann. Hum. Genet. 48: 49-56, 1984.">Honig et al. (1984)</a>; <a href="#Nickel1982" class="mim-tip-reference" title="Nickel, B. E., McAlpine, P. J. <strong>Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel.</strong> Ann. Hum. Genet. 46: 97-103, 1982.">Nickel et al. (1982)</a>; <a href="#Nickel1982" class="mim-tip-reference" title="Nickel, B. E., McAlpine, P. J. <strong>Extension of human acid alpha-glucosidase polymorphism by isoelectric focusing in polyacrylamide gel.</strong> Ann. Hum. Genet. 46: 97-103, 1982.">Nickel and McAlpine (1982)</a>; <a href="#Walvoort1984" class="mim-tip-reference" title="Walvoort, H. C., Slee, R. G., Sluis, K. J., Koster, J. F., Reuser, A. J. J. <strong>Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency).</strong> Am. J. Med. Genet. 19: 589-598, 1984.">Walvoort et al.
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(1984)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Anneser2005" class="mim-anchor"></a>
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Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H.
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<strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong>
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Neurology 64: 368-370, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668445" 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.0000149528.95362.20" target="_blank">Full Text</a>]
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<a id="Aung-Htut2020" class="mim-anchor"></a>
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Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D.
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<strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong>
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Genes 11: 135, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32012848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32012848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32012848" 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/10.3390/genes11020135" target="_blank">Full Text</a>]
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<a id="Becker1998" class="mim-anchor"></a>
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Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H.
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<strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong>
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Am. J. Hum. Genet. 62: 991-994, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529346" 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/10.1086/301788" target="_blank">Full Text</a>]
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<a id="Beratis1980" class="mim-anchor"></a>
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Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
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<strong>An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.</strong>
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Am. J. Hum. Genet. 32: 137-149, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6770674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6770674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6770674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N.
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<strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong>
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Am. J. Hum. Genet. 56: 887-897, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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D'Ancona, G. G., Wurm, J., Croce, C. M.
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<strong>Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.</strong>
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Proc. Nat. Acad. Sci. 76: 4526-4529, 1979.
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[<a href="https://doi.org/10.1073/pnas.76.9.4526" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.24148" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s003350010038" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0902534106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2007.05.011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291362" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/3.12.2231" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1996.tb00433.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0009-8981(78)90191-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000252798.25690.76" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.10.836-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02185782" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00668.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00293278" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.83.24.9641" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20374" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1982.tb00700.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M005959200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390100562" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.2002.6483" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 11/25/2024
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Hilary J. Vernon - updated : 07/07/2021<br>George E. Tiller - updated : 3/14/2011<br>Cassandra L. Kniffin - updated : 11/25/2009<br>Cassandra L. Kniffin - updated : 9/22/2009<br>Cassandra L. Kniffin - updated : 12/17/2007<br>Cassandra L. Kniffin - updated : 10/4/2006<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Victor A. McKusick - updated : 2/3/2004
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Creation Date:
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Cassandra L. Kniffin : 3/27/2002
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 11/25/2024
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carol : 09/28/2021<br>alopez : 09/27/2021<br>carol : 07/12/2021<br>carol : 07/09/2021<br>carol : 07/07/2021<br>carol : 10/20/2017<br>carol : 10/18/2016<br>carol : 05/08/2014<br>carol : 4/23/2014<br>terry : 3/16/2011<br>wwang : 3/14/2011<br>terry : 9/9/2010<br>wwang : 12/10/2009<br>ckniffin : 11/25/2009<br>carol : 10/1/2009<br>ckniffin : 9/22/2009<br>terry : 11/21/2008<br>wwang : 1/7/2008<br>ckniffin : 12/17/2007<br>wwang : 10/20/2006<br>ckniffin : 10/4/2006<br>carol : 6/14/2005<br>carol : 6/14/2005<br>ckniffin : 6/9/2005<br>cwells : 2/6/2004<br>terry : 2/3/2004<br>carol : 4/11/2002<br>carol : 4/11/2002<br>ckniffin : 4/11/2002<br>ckniffin : 4/11/2002<br>carol : 4/10/2002<br>ckniffin : 4/10/2002<br>ckniffin : 4/10/2002<br>ckniffin : 4/10/2002<br>ckniffin : 4/10/2002
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<strong>*</strong> 606800
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GLUCOSIDASE, ALPHA, ACID; GAA
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ACID ALPHA-GLUCOSIDASE<br />
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ALPHA-GLUCOSIDASE, ACID<br />
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ALPHA-1,4-GLUCOSIDASE<br />
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ACID MALTASE
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<strong><em>HGNC Approved Gene Symbol: GAA</em></strong>
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<strong>SNOMEDCT:</strong> 274864009;
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<strong>ICD10CM:</strong> E74.02;
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Cytogenetic location: 17q25.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:80,101,581-80,119,881 </span>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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17q25.3
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Glycogen storage disease II
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232300
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Alpha-1,4-glucosidase (GAA; EC 3.2.1.20) is a lysosomal enzyme involved in the degradation of glycogen within cellular vacuoles.</p>
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<strong>Cloning and Expression</strong>
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<p>Martiniuk et al. (1986) isolated a cDNA with the characteristics of a cDNA for lysosomal acid alpha-glucosidase. They found that this cDNA hybridized to a 3.4-kb mRNA consistent with the size of the enzyme protein (about 105 kD). </p><p>Hoefsloot et al. (1988) derived the amino acid sequence of acid maltase from the nucleotide sequence of cloned cDNA. The cDNA consisted of 3,636 nucleotides and hybridized with a mRNA of about 3.6 kb. A remarkable homology was observed between a soluble lysosomal alpha-glucosidase and the membrane-bound intestinal brush border sucrase-isomaltase enzyme complex. The similarity led Hoefsloot et al. (1988) to propose that these enzymes derived from the same ancestral gene. </p><p>Dennis et al. (2000) reported cDNA and genomic sequence of the bovine Gaa gene, from the initiation codon to the most 3-prime polyadenylation signal. The 2,814-bp coding sequence predicts a 937-amino acid protein, which shows 83% amino acid sequence identity to the human protein. </p>
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<strong>Gene Structure</strong>
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<p>Hoefsloot et al. (1990) demonstrated that the GAA gene spans approximately 20 kb and contains 20 exons. The first exon is noncoding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101 bp. The promoter has features characteristic of a 'housekeeping' gene. The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. </p>
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<strong>Gene Function</strong>
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<p>Yan et al. (2001, 2001) identified elements within a 25-bp region of intron 1 that, when bound by either HRY (139605) or YY1 (600013), silenced GAA transcription in a hepatocyte cell line. In a later study, Yan et al. (2002) found activation of GAA in human fibroblasts with HRY or YY1 binding. The authors noted that the dual function of the transcription factors is likely to contribute to subtle tissue-specific control of GAA activity. </p>
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<strong>Mapping</strong>
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<p>By human-mouse somatic cell hybridization, D'Ancona et al. (1979) and Solomon et al. (1979) assigned the gene for acid alpha-1,4-glucosidase (GAA) to chromosome 17. Mouse and human enzymes were distinguished by differences in affinity to starch gel of the rare human GAA-2 phenotype. Differences in the thermostability of the mouse and human enzymes were also exploited. They concluded that GAA is probably on 17q. By dosage effect, Sandison et al. (1982) narrowed the assignment of the GAA locus to 17q22-qter. By in situ hybridization, Halley et al. (1984) mapped the GAA locus to 17q23-q25. By study of somatic cell hybrids, Martiniuk et al. (1985) refined the regional localization of GAA to 17q21.2-q23. Combined with the assignment by Halley et al. (1984), this finding gives the smallest region of overlap (SRO) to be 17q23. </p><p>By fluorescence in situ hybridization, Kuo et al. (1996) mapped both GAA and the thymidine kinase gene (188300) to 17q25.2-q25.3 and showed that GAA is distal to TK1. </p>
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<strong>Molecular Genetics</strong>
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<p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p>Multiple mutations in the GAA gene have been shown to cause glycogen storage disease II (GSD2; 232300). Martiniuk et al. (1986) tested cell lines of 2 infantile-onset patients with alpha-glucosidase deficiency with a cDNA with characteristics of acid alpha-glucosidase. In 1 of 2 cell lines, the 3.4-kb enzyme mRNA was not detectable, whereas in an adult-onset cell line, an mRNA of reduced size and amount was found. Examination of DNA digested with restriction enzymes did not reveal any major deletions in the genomic DNA of these patients. </p><p>Hoefsloot et al. (1988) found that acid maltase mRNA was absent in fibroblasts in 2 patients with glycogenosis type II. Van der Ploeg et al. (1989) demonstrated heterogeneity of this disease at the molecular level. Two affected infants from a consanguineous Indian family living in South Africa were found to have an acid alpha-glucosidase precursor of reduced size. </p><p>Wokke et al. (1995) studied 16 patients with adult-onset acid maltase deficiency. All the patients were compound heterozygotes carrying a T-to-G transversion at position -13 of intron 1 (IVS1-13T-G; 606800.0006). Three of these patients were asymptomatic at presentation, whereas symptoms began between ages 17 and 45 in the others. Symptomatic patients presented with abnormal fatigue and/or proximal weakness in the legs. All patients deteriorated when seen at follow-up. Creatine kinase was elevated between 1.5 and 15 times the upper limit of normal, EMG showed only myopathic changes in 8 of 13 patients, and skeletal muscle biopsy specimens were histologically and histochemically normal in 3 patients. A modest decrease of alpha-glucosidase activity was demonstrated in all muscle biopsy and peripheral blood specimens. Respiratory insufficiency was never a presenting complaint, but deterioration of vital capacity was demonstrable on follow-up. Overall, the clinical course resembled that of polymyositis or limb girdle muscular dystrophy. </p><p>In the family described by Koster et al. (1978) and Loonen et al. (1981), Kroos et al. (1997) demonstrated that the grandfather was a compound heterozygote for IVS1-13T-G and deletion of a single basepair, 525T (606800.0014); the affected third-generation offspring with severe disease was homozygous for c.525delT mutation. The disease phenotypes in this family were in accordance with the genotypes since the intronic mutation reduced acid alpha-glucosidase synthetase by 60 to 80%, whereas the single-nucleotide deletion completely prohibited formation of catalytically active enzyme. </p><p>Martiniuk et al. (1990) concluded that a minimum of 6 different mutations existed among 14 GAA-deficient cell lines (606800.0001). Martiniuk et al. (1998) analyzed genomic DNA from 928 randomly selected normal individuals for 7 of the most common mutations in the GAA gene. These 7 mutations account for 29% of the chromosomes from infantile- and adult-onset patients, in their experience. Various racial groups were represented. Three individuals who were heterozygotes for 1 of these mutations were found among the 928 normal individuals. </p><p>Ko et al. (1999) studied the molecular defect of the GAA gene in 11 unrelated Taiwanese families of Chinese origin in which at least 1 member had Pompe disease. They identified 7 different mutations in 17 alleles but failed to identify the defects in the other 5 alleles. </p><p>Three mutations in the GAA gene are common in the Dutch patient population: IVS1-13T-G (606800.0006), 525delT (606800.0014), and EX18DEL (606800.0012). Sixty-three percent of Dutch GSD II patients carry 1 or 2 of these mutations, and the genotype-phenotype correlation is known (Kroos et al., 1995). </p><p>Hermans et al. (2004) investigated 29 cases of type II glycogen storage disease and identified 55 pathogenic mutations of the GAA gene. There were 34 different mutations identified, 22 of which were novel. All of the missense mutations and 2 other mutations with an unpredictable effect on acid alpha-glucosidase synthesis and function were transiently expressed in COS cells. The effect of a novel splice site mutation was investigated by real-time PCR analysis. These analyses supported the notion that the clinical phenotype of GSD II is largely dictated by the nature of the mutations in the GAA alleles. Of the 29 patients with widely diverse ethnicity, 18 were classified as suffering from the infantile form, 9 were classified as juvenile, and 2 were of the adult type, 1 of them having onset presumably at the age of 65 years. The cases were classified as infantile when onset was in the first half year of life with cardiomegaly and less than 1.5 years survival. The juvenile form was used as a category when onset was after the first year, but before adulthood, and survival was prolonged. Adult type GSD II was onset after 20 years of age. </p><p>Among 40 Italian patients with late-onset GSD II, Montalvo et al. (2006) identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was IVS1-13T-G (606800.0006), present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). </p><p>Gort et al. (2007) identified 23 GAA mutations, 9 of which were novel, among 22 Spanish patients with GSD II. The 2 most common mutations were splice site mutations (606800.0006 and 606800.0018), occurring at frequencies of 25% and 14%, respectively. </p><p>In a cohort of 84 patients with Pompe disease who carried the common IVS1-13T-G mutation, Herbert et al. (2019) identified 4 patients who were compound heterozygous for a different second GAA mutation and had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). Herbert et al. (2019) concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. </p><p>De Faria et al. (2021) reported an update to the 2016 Pompe disease GAA variant database, which included a literature search of relevant articles up to January 2020. The updated database contained a total of 648 disease-associated mutations in the GAA gene, 26 mutations that were identified via newborn screening but with an unknown disease association, and 237 additional mutations with an unknown disease association. Of the 648 disease-associated mutations in the GAA gene, 336 could be associated with a clinical phenotype, including 266 patients with classic infantile disease, 11 patients with classic infantile or childhood disease, 32 patients with childhood disease, 15 patients with childhood or adult disease, and 12 patients with adult disease. Missense mutations were enriched in the catalytic core of the GAA enzyme. De Faria et al. (2021) additionally tested the enzyme activity of GAA with the following mutations in COS-7 cells: C103G, G219R, R224W, L552P, and R600C. All the mutations fully abrogated enzyme activity. </p><p>Aung-Htut et al. (2020) identified biallelic mutations in the GAA gene in 3 unrelated patients (patients 1, 2, and 9) with adult-onset Pompe disease. All 3 patients had compound heterozygous mutations in the GAA gene, with 1 of the mutations in each being the common IVS1-13T-G (606800.0006). The second mutation in patient 1 was Q692X (606800.0019), the second mutation in patient 2 was Leu637_Val639del (606800.0020), and the second mutation in patient 9 was P361R (606800.0021). Full-length GAA protein content was reduced in fibroblasts from all 3 patients. </p>
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<p>Raben et al. (1998) found that Gaa-null mice accumulated glycogen in cardiac and skeletal muscle lysosomes by 3 weeks of age, with a progressive increase thereafter. By 3.5 weeks of age, these mice had markedly reduced mobility and strength. They grew normally, however, reached adulthood, remained fertile, and, as in the human adult disease, older mice accumulated glycogen in the diaphragm. By 8 to 9 months of age, the animals developed obvious muscle wasting and a weak, waddling gait. </p><p>Dennis et al. (2000) identified mutations in the bovine Gaa gene that led to generalized glycogenosis in the Brahman and Shorthorn breeds. All 3 mutations resulted in premature termination of translation. The authors also presented evidence for a missense mutation segregating with the Brahman population, which is responsible for a 70 to 80% reduction in alpha-glucosidase activity. </p><p>Using Gaa-knockout mice and transgenes containing cDNA for the human enzyme under muscle- or liver-specific promoters controlled by tetracycline, Raben et al. (2001) demonstrated that the liver provided enzyme far more efficiently. The achievement of therapeutic levels with skeletal muscle transduction required the entire muscle mass to produce high levels of enzyme of which little found its way to the plasma, whereas liver, comprising less than 5% of body weight, secreted 100-fold more enzyme, all of which was in the active 110-kD precursor form. Skeletal and cardiac muscle pathology was completely reversible if the treatment was begun early. </p><p>DeRuisseau et al. (2009) found that Gaa-null mice had increased glycogen levels in cervical spinal cord motor neurons and larger soma size of phrenic neurons. Gaa-null mice had decreased ventilation during quiet breathing and under hypercapnic challenge compared to wildtype mice, indicating respiratory insufficiency. Mice with skeletal muscle-specific Gaa (MTP) expression showed normal diaphragm force generation similar to wildtype mice, but 30% decreased ventilation during quiet breathing, similar to Gaa-null mice. The compromised ventilation observed in both mutant mouse models was associated with decreased phrenic nerve motor output. Spinal cord samples from a patient with Pompe disease showed increased neuronal glycogen. DeRuisseau et al. (2009) suggested that respiratory impairment in individuals with Pompe disease results from a combination of muscular and neural deficits. </p><p>Douillard-Guilloux et al. (2010) analyzed the effect of a complete genetic elimination of glycogen synthesis in a murine GSDII model. Gaa/Gys1 (138570) double-knockout mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly. In addition, the abnormalities in glucose metabolism and insulin tolerance observed in the GSDII model were corrected in Gaa/Gys1 double-knockout mice. Muscle atrophy observed in 11-month-old GSDII mice was less pronounced in Gaa/Gys1 double-knockout mice, resulting in improved exercise capacity. Douillard-Guilloux et al. (2010) concluded that long-term elimination of muscle glycogen synthesis leads to a significant improvement of structural, metabolic and functional defects in the GSDII mouse model and offers a novel perspective for the treatment of Pompe disease. </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>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>21 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>
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<span class="mim-font">
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<strong>.0001 ACID ALPHA-GLUCOSIDASE, ALLELE 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GAA, ASP91ASN
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<br />
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SNP: rs1800299,
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gnomAD: rs1800299,
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ClinVar: RCV000004235, RCV000078177, RCV000117106, RCV000531082, RCV002426487
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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>Alpha-glucosidase (GAA) exhibits a genetic polymorphism, with 3 alleles (GAA*1, GAA*2, and GAA*4) segregating in the population. GAA*2 allozyme can be identified by starch-gel electrophoresis, since the enzyme has less affinity for the starch and thus migrates more rapidly to the anode despite its basic pI. Martiniuk et al. (1990) demonstrated a 271G-A transition in the GAA gene, resulting in an asp91-to-asn (D91N) substitution, as the basis for this feature. The bp substitution abolished a TaqI site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</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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GAA, MET318THR
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<br />
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SNP: rs121907936,
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gnomAD: rs121907936,
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ClinVar: RCV000004236, RCV000727662, RCV000780268
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with infantile-onset glycogen storage disease II (GSD2; 232300), Zhong et al. (1991) identified a 953T-C transition in the GAA gene, resulting in a met318-to-thr (M318T) substitution. The mutation was not detected in 37 additional GAA-deficient chromosomes. The patient was a genetic compound with the second allele expressing almost no GAA mRNA. </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>.0003 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</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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GAA, GLU521LYS
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<br />
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SNP: rs121907937,
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gnomAD: rs121907937,
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ClinVar: RCV000004237, RCV000169465, RCV003137489
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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 2 children affected with Pompe disease (GSD2; 232300) from a consanguineous Indian family, Hermans et al. (1991) identified a homozygous G-to-A transition in exon 11 of the GAA gene, resulting in a glu521-to-lys (E521K) substitution, just 3 amino acids downstream from the catalytic site of the enzyme at asp518. Both parents were heterozygous for the mutant allele. Functional expression studies showed that the E521K mutation caused abnormal physical properties of the enzyme precursor in the patients and prevented formation of a catalytically active enzyme. </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>.0004 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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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GAA, GLY643ARG
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<br />
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SNP: rs28937909,
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gnomAD: rs28937909,
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ClinVar: RCV000004238, RCV000409137, RCV000788193
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with an adult form of glycogen storage disease type II (GSD2; 232300), case 1 reported by Trend et al. (1985), Hermans et al. (1993) demonstrated compound heterozygosity for 2 mutations in the GAA gene: a 1927G-A transition in exon 14, resulting in a gly643-to-arg (G643R) substitution, and a 2173C-T transition in exon 15, resulting in an arg725-to-trp (R725W; 606800.0005) substitution. Functional expression studies showed that neither mutation interfered with the synthesis of mutant enzyme precursors, but both were associated with impairment of intracellular transport and maturation. As a result, there was an overall deficiency of catalytic activity. Residual enzyme activity in the patient was at the 1 to 2% level. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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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GAA, ARG725TRP
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<br />
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SNP: rs121907938,
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gnomAD: rs121907938,
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ClinVar: RCV000004239, RCV000169045, RCV001569366
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|
</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2173C-T transition in exon 15 of the GAA gene, resulting in an arg725-to-trp (R725W) substitution, that was found in compound heterozygous state in a patient with an adult form of glycogen storage disease II (GSD2; 232300) by Hermans et al. (1993), see 606800.0004. </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>.0006 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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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GAA, IVS1AS, T-G, -13
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<br />
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SNP: rs386834236,
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gnomAD: rs386834236,
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|
ClinVar: RCV000004242, RCV000055770, RCV000153285, RCV000626740, RCV002225068, RCV002288463, RCV002321471, RCV003415646, RCV004797752
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|
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|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with the adult-onset form of glycogen storage disease II (GSD2; 232300), Huie et al. (1994) identified a T-to-G transversion at position -13 of the acceptor site of intron 1 of the GAA gene, resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2. Boerkoel et al. (1995) reported an adult woman heterozygous for this mutation with a low level of active enzyme (12% of normal) that was generated from the leakage of normally spliced mRNA and sustained the patient to adult life. The patient was a genetic compound for deletion of exon 18 of the GAA gene (606800.0012). </p><p>Kroos et al. (1995) identified the IVS1 splice site mutation in 38 of 50 heterozygous persons with the adult form of GSD II and in 4 of 13 heterozygous patients with the juvenile form, but did not find the mutation in patients with the infantile form. Patients with deletion of exon 18 or deletion of 525T (606800.0014) in combination with the IVS1-13T-G transversion had the juvenile or the adult form, suggesting that the intronic mutation was a mild mutation. </p><p>Among 40 Italian patients with late-onset GSD II, Montalvo et al. (2006) identified 26 different mutations, including 12 novel mutations, in the GAA gene. The most common mutation was IVS1-13T-G, present in heterozygosity in 34 (85%) of 40 patients (allele frequency 42.3%). </p><p>Kroos et al. (2007) reported 98 Caucasian GSD II patients who were compound heterozygous for the -13T-G transversion and a second fully deleterious mutation in the GAA gene. None had the infantile form of the disease, but age at onset ranged from less than 1 to 52 years. Alpha-glucosidase activity ranged from about 3 to 20% of normal, and clinical features varied far more than anticipated, although the disease course in general was slowly progressive. Twelve different -13T-G haplotypes were identified. </p><p>Gort et al. (2007) identified the -13T-G mutation in 25% of mutant alleles from 22 Spanish patients with GSD II. All had the same haplotype, indicating a founder effect. </p><p>In a cohort of 84 patients with Pompe disease who carried the common IVS1-13T-G mutation, Herbert et al. (2019) identified 4 patients who were compound heterozygous for a different second GAA mutation and had onset of clinical symptoms before age 2 years (range, 10 days to 20 months). Herbert et al. (2019) concluded that despite the prior impression that this common mutation leads to milder, adult-onset disease, it can lead to early-onset symptoms. </p><p>In 3 patients (patients 1, 2, and 9) with adult-onset Pompe disease, Aung-Htut et al. (2020) identified compound heterozygosity for the IVS1-13T-G mutation and 3 different mutations in the GAA gene. Patient 1 also carried a c.2074C-T transition resulting in a gln692-to-ter (Q692X; 606800.0019) early termination. Patient 2 also carried a 9-bp deletion (c.1910_1918del) resulting in deletion of residues Leu637_Val639 (606800.0020). Patient 9 also carried a c.1082C-G transversion resulting in a pro361-to-arg (P361R; 606800.0021) mutation. The mutations, which were identified by sequencing of DNA and RNA from patient fibroblasts, were confirmed by Sanger sequencing. Full-length GAA protein content was reduced in fibroblasts from all 3 patients. </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 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, LYS903DEL
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs121907939,
|
|
|
|
|
|
|
|
ClinVar: RCV000004243, RCV001376754
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the lys903del mutation in the GAA gene that was found in compound heterozygous state in a patient with Pompe disease (GSD2; 232300) by Boerkoel et al. (1995), see 606800.0012. </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>.0008 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, LEU299ARG
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<br />
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|
|
SNP: rs121907940,
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|
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|
|
ClinVar: RCV000004240, RCV000795023
|
|
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|
|
</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu299-to-arg (L299R) mutation in the GAA gene that was found in compound heterozygous state in a patient with Pompe disease (GSD2; 232300) by Boerkoel et al. (1995), see 606800.0012. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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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GAA, SER529VAL
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<br />
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SNP: rs121907941,
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ClinVar: RCV000004241
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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 Japanese patient with adult-onset glycogen storage disease II (GSD2; 232300), Tsunoda et al. (1996) identified a change of nucleotides 1585 and 1586 from TC to GT in the GAA gene. The mutation resulted in a ser529-to-val (S529V) substitution. A study of transient expression of the mutant allele indicated that the S529V substitution resulted in loss of catalytic activity of the enzyme. The patient developed skeletal muscle weakness at 28 years. </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>.0010 GLYCOGEN STORAGE DISEASE II, INFANTILE FORM</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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GAA, ASP645GLU
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<br />
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SNP: rs28940868,
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gnomAD: rs28940868,
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ClinVar: RCV000004244, RCV000055768, RCV001785448, RCV004018551, RCV004751197
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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>Lin and Shieh (1996) identified a 1935C-A transversion at the 5-prime end of exon 14 in the GAA gene in 4 Chinese patients with the infantile form of Pompe disease (GSD2; 232300) in Taiwan. This change resulted in an asp645-to-glu (D645E) substitution. The mutation was found in 20 of 25 additional Chinese patients with Pompe disease, but not in 40 healthy controls. Lin and Shieh (1996) concluded that the D645E substitution is the main mutation responsible for Pompe disease in Chinese infants in Taiwan. </p><p>Shieh and Lin (1998) identified the D645E mutation in 19 of 25 Chinese Pompe patients in heterozygous or homozygous state. All the mutant alleles in these patients were linked to a specific haplotype, which had a frequency of 0.95 in the 19 Chinese patients and 0.17 in 42 healthy controls. </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>.0011 ACID ALPHA-GLUCOSIDASE, ALLELE 4</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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GAA, GLU689LYS
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<br />
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SNP: rs1800309,
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gnomAD: rs1800309,
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ClinVar: RCV000004245, RCV000078165, RCV000383641, RCV000675237, RCV002415397
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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>The normal population exhibits 3 genetic biochemical polymorphic GAA allozymes, GAA*1, GAA*2, and GAA*4, with gene frequencies of 0.9, 0.03, and 0.06, respectively. The molecular basis of the GAA*2 allozyme is a 271A-G transition (606800.0001) leading to a D91N amino acid substitution as compared with the more common GAA*1 allozyme. Huie et al. (1996) demonstrated that the molecular basis of the GAA*4 allozyme is a 2065G-A transition, predicting a glu689-to-lys (E689K) substitution. </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>.0012 GLYCOGEN STORAGE DISEASE II</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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GAA, EX18DEL
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<br />
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SNP: rs1555603048,
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|
ClinVar: RCV000004246
|
|
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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>Van der Kraan et al. (1994) reported that deletion of exon 18 of the GAA gene is a frequent mutation in Pompe disease (GSD2; 232300). Huie et al. (1994) found this mutation in patients with both infantile and adult forms of this disease. Vorgerd et al. (1998) found homozygosity for the exon 18 deletion in 2 affected sibs and an unrelated patient with adult-type GSD II. </p><p>Boerkoel et al. (1995) found a deletion of exon 18 of the GAA gene in 3 unrelated compound heterozygous patients, 2 of whom were infants, and 1 an adult. The second mutation in each of these patients was different. The infants with Pompe disease were French Canadian and Dutch. The adult was a woman of German extraction who had first consulted her physician at age 39 years for progressive proximal muscle weakness and respiratory insufficiency. In retrospect, she could recall limitation in her activity as far back as early adulthood. In one of the infants, there was deletion of lys903 (606800.0007); in the other, there was a leu299-to-arg substitution (606800.0008). In the adult, the authors observed a T-to-G transversion at position -13 of intron 1 (606800.0006). </p><p>Although Kroos et al. (1995) found deletion of exon 18 in the infantile and adult forms of the disease, those homozygous for this mutation and heterozygous for this mutation in combination with deletion of 525T (606800.0014) had the infantile form of Pompe disease; however, patients with deletion of exon 18 or deletion of 525T in combination with transversion of T to G at position -13 (606800.0006) had the juvenile or the adult form, suggesting that the intronic mutation was a mild 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">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE II, ADULT FORM</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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GAA, PRO545LEU
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<br />
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SNP: rs121907942,
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gnomAD: rs121907942,
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ClinVar: RCV000004247, RCV001174962, RCV001785449
|
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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 woman with adult-onset glycogen storage disease II (GSD2; 232300), Hermans et al. (1994) identified a homozygous 1634C-T transition in the GAA gene, resulting in a pro545-to-leu (P545L) substitution. She was diagnosed at age 42 years and died at age 51 years. This mutation was compatible with normal synthesis, but hindered enzyme activity and resulted in 92% loss of GAA activity. Another unrelated girl with juvenile-onset GSD II was compound heterozygous for P545L and 525delT (606800.0014). </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GLYCOGEN STORAGE DISEASE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
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|
|
|
GAA, 1-BP DEL, 525T
|
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|
<br />
|
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|
|
SNP: rs386834235,
|
|
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|
|
|
gnomAD: rs386834235,
|
|
|
|
|
|
ClinVar: RCV000004248, RCV000078181, RCV004797753
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with the juvenile form of Pompe disease (GSD2; 232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. </p><p>Kroos et al. (1995) reported that although the 525delT mutation was equally frequent (0.11 to 0.16) in all clinical forms of glycogen storage disease II, all 5 patients homozygous for this mutation had the infantile form with less than 1% GAA activity. </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>.0015 GLYCOGEN STORAGE DISEASE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, ARG854TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121907943,
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|
|
|
|
|
gnomAD: rs121907943,
|
|
|
|
|
|
ClinVar: RCV000004249, RCV000255539, RCV003904805, RCV004991965
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Becker et al. (1998) found a high frequency of the arg854-to-ter (R854X) mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (GSD2; 232300) in various African populations and in African American patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, ALA237VAL
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs121907944,
|
|
|
|
|
|
gnomAD: rs121907944,
|
|
|
|
|
|
ClinVar: RCV000004250, RCV000664615, RCV002265547, RCV003329226, RCV004751198
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with adult-onset glycogen storage disease II (GSD2; 232300), Anneser et al. (2005) identified compound heterozygosity for 2 mutations in the GAA gene: a 719C-T transition in exon 4, resulting in an ala237-to-val (A237V) substitution, and an 877G-A transition in exon 5, resulting in a gly293-to-arg (G293R; 606800.0017) substitution. Neither mutation was identified in 40 control individuals. The patient had dilatative angiopathy of the intracerebral vessels, especially of the basilar artery, with calcifications of the carotid and medial cerebral arteries, and had experienced several stroke-like episodes. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, GLY293ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121907945,
|
|
|
|
|
|
gnomAD: rs121907945,
|
|
|
|
|
|
ClinVar: RCV000004251, RCV000578430, RCV000728952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 877G-A transition in exon 5 of the GAA gene, resulting in a gly293-to-arg substitution, that was found in compound heterozygous state in a patient with adult-onset glycogen storage disease II (GSD2; 232300) by Anneser et al. (2005), see 606800.0016. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 GLYCOGEN STORAGE DISEASE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, IVS6AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555600050,
|
|
|
|
|
|
|
|
ClinVar: RCV000666182
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gort et al. (2007) identified a G-to-C transversion in intron 6 of the GAA gene (1076-1G-C) in 14% of mutant alleles among 22 Spanish patients with glycogen storage disease II (GSD2; 232300). One patient who was homozygous for the mutation had severe infantile onset, with cardiomyopathy, cardiomegaly, and hepatomegaly. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, GLN692TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2039287628,
|
|
|
|
|
|
|
|
ClinVar: RCV001056322, RCV004794470
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For a discussion of the c.2074C-T transition (c.2074C-T, NM_000152.4) in the GAA gene resulting in a gln692-to-ter (Q692X) that was identified in compound heterozygous state in patient 1 with adult-onset glycogen storage disease II (GSD2; 232300) by Aung-Htut et al. (2020), see 606800.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, 9-BP DEL, NT1910
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2039275157,
|
|
|
|
|
|
|
|
ClinVar: RCV001078140, RCV004794471
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For a discussion of the 9-bp deletion (c.1910_1918del, NM_000152.4) in the GAA gene resulting in deletion of residues Leu637_Val639 that was identified in compound heterozygous state in patient 2 with adult-onset glycogen storage disease II (GSD2; 232300) by Aung-Htut et al. (2020), see 606800.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 GLYCOGEN STORAGE DISEASE II, ADULT FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAA, PRO361ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs755253527,
|
|
|
|
|
|
gnomAD: rs755253527,
|
|
|
|
|
|
ClinVar: RCV000382384, RCV001078141, RCV004794384
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For a discussion of the c.1082C-G transversion (c.1082C-G, NM_000152.4) in the GAA gene resulting in a pro361-to-arg (P361R) that was identified in compound heterozygous state in patient 9 with adult-onset glycogen storage disease II (GSD2; 232300) by Aung-Htut et al. (2020), see 606800.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Beratis et al. (1980); Hoefsloot et al. (1990); Honig et al. (1984);
|
|
Nickel et al. (1982); Nickel and McAlpine (1982); Walvoort et al.
|
|
(1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anneser, J. M. H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G. H.
|
|
<strong>Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.</strong>
|
|
Neurology 64: 368-370, 2005.
|
|
|
|
|
|
[PubMed: 15668445]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.WNL.0000149528.95362.20]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S., Wilton, S. D.
|
|
<strong>Novel mutations found in individuals with adult-onset Pompe disease.</strong>
|
|
Genes 11: 135, 2020.
|
|
|
|
|
|
[PubMed: 32012848]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3390/genes11020135]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, J. A., Vlach, J., Raben, N., Nagaraju, K., Adams, E. M., Hermans, M. M., Reuser, A. J. J., Brooks, S. S., Tifft, C. J., Hirschhorn, R., Huie, M. L., Nicolino, M., Plotz, P. H.
|
|
<strong>The African origin of the common mutation in African American patients with glycogen-storage disease type II. (Letter)</strong>
|
|
Am. J. Hum. Genet. 62: 991-994, 1998.
|
|
|
|
|
|
[PubMed: 9529346]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301788]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beratis, N. G., LaBadie, G. U., Hirschhorn, K.
|
|
<strong>An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.</strong>
|
|
Am. J. Hum. Genet. 32: 137-149, 1980.
|
|
|
|
|
|
[PubMed: 6770674]
|
|
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerkoel, C. F., Exelbert, R., Nicastri, C., Nichols, R. C., Miller, F. W., Plotz, P. H., Raben, N.
|
|
<strong>Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.</strong>
|
|
Am. J. Hum. Genet. 56: 887-897, 1995.
|
|
|
|
|
|
[PubMed: 7717400]
|
|
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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