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Entry
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- *611458 - GALACTOSIDASE, BETA-1; GLB1
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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">*611458</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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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/611458">Table View</a>
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</li>
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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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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=ENSG00000170266;t=ENST00000307363" 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=2720" 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=611458" 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=ENSG00000170266;t=ENST00000307363" 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_000404,NM_001079811,NM_001135602,NM_001317040,NM_001393580" 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_000404" 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=611458" 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=01975&isoform_id=01975_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/GLB1" 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/179401,179419,179421,179423,235590,13960104,30583133,62897085,62897743,119584846,119584847,119584848,119584849,189066575,215273939,221042476,221043038,221043328,319890250,1519245746,1890335879,1890342710,1890343381,1992515646" 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/P16278" 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=2720" 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=ENSG00000170266;t=ENST00000307363" 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=GLB1" 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=GLB1" 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+2720" 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/GLB1" 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:2720" 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/2720" 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=chr3&hgg_gene=ENST00000307363.10&hgg_start=32961108&hgg_end=33097146&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:4298" 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:4298" 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/glb1" 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=611458[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=611458[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000170266" 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=GLB1" 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=GLB1" 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=GLB1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GLB1&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/PA28709" 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:4298" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0001089.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88151" 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/GLB1#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:88151" 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/2720/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/OMIA000402/" 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=2720" 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=WBGene00011832;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-050410-9" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:2720" 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=GLB1&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> 18756002, 238026007, 238027003, 238044004<br />
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<strong>ICD10CM:</strong> E76.211<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
611458
|
|
</span>
|
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</span>
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</div>
|
|
</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
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GALACTOSIDASE, BETA-1; GLB1
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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">
|
|
BETA-GALACTOSIDASE-1
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="h4 mim-font">
|
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|
|
S-GAL, INCLUDED<br />
|
|
ELASTIN RECEPTOR 1, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GLB1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLB1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/149?start=-3&limit=10&highlight=149">3p22.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:32961108-33097146&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'})">3:32,961,108-33,097,146</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<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>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=230500,230600,230650,253010" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/149?start=-3&limit=10&highlight=149">
|
|
3p22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
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GM1-gangliosidosis, type I
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<a href="/entry/230500"> 230500 </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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GM1-gangliosidosis, type II
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<a href="/entry/230600"> 230600 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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GM1-gangliosidosis, type III
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<a href="/entry/230650"> 230650 </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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Mucopolysaccharidosis type IVB (Morquio)
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<a href="/entry/253010"> 253010 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/611458" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/611458" 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-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>The GLB1 gene encodes beta-galactosidase-1 (<a href="https://enzyme.expasy.org/EC/3.2.1.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.23</a>), a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates (<a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al., 1991</a>). Beta-galactosidase also occurs in a complex with neuraminidase (NEU1; <a href="/entry/608272">608272</a>) and protective protein/cathepsin A (CTSA; <a href="/entry/613111">613111</a>), which is a component of certain cell surface receptors (<a href="#17" class="mim-tip-reference" title="Hinek, A. <strong>Biological roles of the non-integrin elastin/laminin receptor.</strong> Biol. Chem. 377: 471-480, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922281</a>]" pmid="8922281">Hinek, 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8922281+1907800" 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>See also galactosylceramidase (GALC; <a href="/entry/606890">606890</a>) (<a href="https://enzyme.expasy.org/EC/3.2.1.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.46</a>), a genetically distinct beta-galactosidase that is involved in the catabolism of other lipid compounds.</p>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cloning and Expression</strong>
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<p><a href="#28" class="mim-tip-reference" title="Oshima, A., Tsuji, A., Nagao, Y., Sakuraba, H., Suzuki, Y. <strong>Cloning, sequencing, and expression of cDNA for human beta-galactosidase.</strong> Biochem. Biophys. Res. Commun. 157: 238-244, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3143362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3143362</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80038-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3143362">Oshima et al. (1988)</a> isolated a cDNA corresponding to the GLB1 gene from a human placenta cDNA library. The deduced 677-residue protein has a calculated molecular mass of 75 kD and contains a putative 23-residue signal sequence and 7 potential asparagine-linked glycosylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3143362" 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="#21" class="mim-tip-reference" title="Morreau, H., Galjart, N. J., Gillemans, N., Willemsen, R., van der Horst, G. T. J., d'Azzo, A. <strong>Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.</strong> J. Biol. Chem. 264: 20655-20663, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2511208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2511208</a>]" pmid="2511208">Morreau et al. (1989)</a> showed that the GLB1 gene gives rise to 2 alternatively spliced mRNAs: a major 2.5-kb transcript that encodes the classic lysosomal form of the enzyme of 677 amino acids, and a minor 2.0-kb transcript that encodes a beta-galactosidase-related protein (S-Gal) of 546 amino acids with no enzymatic activity and a different subcellular localization. Exons 3, 4, and 6 are deleted in the 2.0-kb mRNA because of alternative splicing of the pre-mRNA. The only difference between the 2 proteins resides in a stretch of 32 amino acids that is encoded by a different reading frame of exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2511208" 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="Hinek, A. <strong>Biological roles of the non-integrin elastin/laminin receptor.</strong> Biol. Chem. 377: 471-480, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922281</a>]" pmid="8922281">Hinek (1996)</a> and <a href="#33" class="mim-tip-reference" title="Privitera, S., Prody, C. A., Callahan, J. W., Hinek, A. <strong>The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.</strong> J. Biol. Chem. 273: 6319-6326, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497360</a>] [<a href="https://doi.org/10.1074/jbc.273.11.6319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497360">Privitera et al. (1998)</a> found that the short beta-galactosidase-related protein of 67 kD (S-Gal) was identical to the elastin-binding protein (EBP), a major component of the nonintegrin cell surface receptor complex expressed in fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. EBP, which is localized in the endosomal compartment, binds tropoelastin (see <a href="/entry/130160">130160</a>) intracellularly and functions as a molecular chaperone facilitating the secretions of tropoelastin and its assembly into elastic fibers. EBP is not a transmembrane protein, but immobilizes on the cell surface by an association with neuraminidase and PPCA. EBP binds to matrix ligands only in the absence of galactosugars, because binding of carbohydrate moieties results in a conformational change that releases the protein from the cell surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8922281+9497360" 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="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Gene Structure</strong>
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<p>The GLB1 gene spans 62.5 kb and contains 16 exons (<a href="#28" class="mim-tip-reference" title="Oshima, A., Tsuji, A., Nagao, Y., Sakuraba, H., Suzuki, Y. <strong>Cloning, sequencing, and expression of cDNA for human beta-galactosidase.</strong> Biochem. Biophys. Res. Commun. 157: 238-244, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3143362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3143362</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80038-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3143362">Oshima et al., 1988</a>; <a href="#37" class="mim-tip-reference" title="Santamaria, R., Blanco, M., Chabas, A., Grinberg, D., Vilageliu, L. <strong>Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.</strong> Clin. Genet. 71: 273-279, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00767.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17309651">Santamaria et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3143362+17309651" 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="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p>By somatic cell hybridization, <a href="#38" class="mim-tip-reference" title="Shows, T. B., Scrafford-Wolff, L., Brown, J. A., Meisler, M. <strong>Assignment of a beta-galactosidase gene (beta-GAL-alpha) to chromosome 3 in man.</strong> Cytogenet. Cell Genet. 22: 219-222, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/110522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">110522</a>] [<a href="https://doi.org/10.1159/000130940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="110522">Shows et al. (1978)</a> and <a href="#40" class="mim-tip-reference" title="Shows, T. B., Scrafford-Wolff, L. R., Brown, J. A., Meisler, M. H. <strong>Gm(1)-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GAL-A).</strong> Somat. Cell Genet. 5: 147-158, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/113895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">113895</a>] [<a href="https://doi.org/10.1007/BF01539157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="113895">Shows et al. (1979)</a> localized the beta-galactosidase gene to chromosome 3. The authors used a species-specific antiserum to human liver beta-galactosidase with an acid pH optimum to determine the chromosome assignment in man-mouse somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=110522+113895" 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="#41" class="mim-tip-reference" title="Sips, H. J., de Wit-Verbeek, H. A., de Wit, J., Westerveld, A., Galjaard, H. <strong>The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.</strong> Hum. Genet. 69: 340-344, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3921454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3921454</a>] [<a href="https://doi.org/10.1007/BF00291653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3921454">Sips et al. (1985)</a> concluded that the structural gene for beta-galactosidase maps to chromosome 3. <a href="#44" class="mim-tip-reference" title="Takano, T., Yamanouchi, Y. <strong>Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.</strong> Hum. Genet. 92: 403-404, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693577</a>] [<a href="https://doi.org/10.1007/BF01247344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693577">Takano and Yamanouchi (1993)</a> used fluorescence in situ hybridization to assign the gene to 3p21.33. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3921454+7693577" 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 studying recombinant inbred strains of mice, <a href="#25" class="mim-tip-reference" title="Naylor, S. L., Elliott, R. W., Brown, J. A., Shows, T. B. <strong>Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes.</strong> Am. J. Hum. Genet. 34: 235-244, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6803586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6803586</a>]" pmid="6803586">Naylor et al. (1982)</a> found that aminoacylase-1 (ACY1; <a href="/entry/104620">104620</a>) and GLB1 are 10.7 map units apart on mouse chromosome 9. Since transferrin (TF; <a href="/entry/190000">190000</a>) is closely linked to these 2 loci in the mouse, they suggested that the human transferrin gene is also on chromosome 3, which is known to carry ACY1 and GLB1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6803586" 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><strong><em>GM1-Gangliosidosis</em></strong></p><p>
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<a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> and <a href="#26" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. <strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong> Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>]" pmid="1909089">Nishimoto et al. (1991)</a> independently identified mutations in the GLB1 gene in Japanese patients with various forms of GM1-gangliosidosis. Those with the infantile form (GM1G1; <a href="/entry/230500">230500</a>) had specific mutations (<a href="#0001">611458.0001</a>; <a href="#0002">611458.0002</a>; <a href="#0005">611458.0005</a>-<a href="#0007">611458.0007</a>). Residual enzyme activity in these patients ranged from 0.65 to 1.58% of control values (<a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al., 1991</a>). Those with the late infantile/juvenile form (GM1G2; <a href="/entry/230600">230600</a>) had a different mutation (R201C; <a href="#0003">611458.0003</a>) with residual enzyme activity ranging from 2.65 to 3.05% of control values. Those with the adult/chronic form (GM1G3; <a href="/entry/230650">230650</a>) again had different mutations (<a href="#0004">611458.0004</a>; <a href="#0008">611458.0008</a>) with residual enzyme activity ranging from 4.24 to 7.28% of control values. The findings indicated an inverse correlation between disease severity and residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1909089+1907800" 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 patient with late-infantile GM1-gangliosidosis, <a href="#5" class="mim-tip-reference" title="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al. (2003)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene (<a href="#0003">611458.0003</a>; <a href="#0022">611458.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" 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 several Italian patients with infantile GM1-gangliosidosis with cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#22" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E. <strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong> Hum. Mutat. 15: 354-366, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737981">Morrone et al. (2000)</a> identified homozygous mutations in the GLB1 gene (<a href="#0023">611458.0023</a>-<a href="#0026">611458.0026</a>). All of these mutations were located in the GLB1 region common to the lysosomal protein and the EBP and were shown to impair elastogenesis (<a href="#16" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. <strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong> Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841810">Hinek et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10737981+10841810" 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="#37" class="mim-tip-reference" title="Santamaria, R., Blanco, M., Chabas, A., Grinberg, D., Vilageliu, L. <strong>Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.</strong> Clin. Genet. 71: 273-279, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00767.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17309651">Santamaria et al. (2007)</a> identified 22 different GLB1 mutations, including 14 novel mutations, in 19 unrelated patients with GM1-gangliosidosis from south America, mainly Argentina. The vast majority had the type I phenotype. R59H (<a href="#0023">611458.0023</a>) was the most common mutation, accounting for 15.8% (6 of 38) mutant alleles. Two unrelated patients of Gypsy origin were homozygous for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others. <strong>Recurrent and novel GLB1 mutations in India.</strong> Gene 567: 173-181, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25936995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25936995</a>] [<a href="https://doi.org/10.1016/j.gene.2015.04.078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25936995">Bidchol et al. (2015)</a> reported molecular findings in 46 Indian patients with GM1-gangliosidosis and 2 pairs of Asian Indian parents who had carrier testing for GM1. Thirty-three different mutations in the GLB1 gene were identified; 20 of the mutations were novel, including 12 missense, 4 splicing, 3 indels, and 1 nonsense. The most common mutations were c.75+2insT (14% of alleles) and L337P (10% of alleles). None of the novel mutations were observed in the dbSNP or 1000 Genomes Project databases. Forty-one of the patients had homozygous mutations, 25 of whom were born to consanguineous parents. Thirty-two of the patients had GM1-gangliosidosis type I, 13 had GM1-gangliosidosis type II, and 1 had GM1-gangliosidosis type III. No genotype-phenotype correlation was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25936995" 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 5-year-old Emirati boy, born to consanguineous parents, with GM1-gangliosidosis type I, <a href="#20" class="mim-tip-reference" title="Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R. <strong>The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.</strong> Hum. Genet. 139: 657-673, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32219518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32219518</a>] [<a href="https://doi.org/10.1007/s00439-020-02153-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32219518">Mohamed et al. (2020)</a> identified a homozygous mutation in the GLB1 gene (D151Y; <a href="#0029">611458.0029</a>). Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the endoplasmic reticulum (ER). Enzyme function in the fibroblasts was partially rescued by the presence of glycerol, which acts as a chemical chaperone to rescue misfolded proteins retained in the ER, or reduced temperature, which assists with conformational rescue of misfolded proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32219518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudodeficiency Alleles</em></strong></p><p>
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'Pseudodeficient enzyme activity' refers to situations in which individuals show greatly reduced enzyme activity without pathologic or clinical features. Proper identification of these variants is important for accurate genetic counseling. <a href="#13" class="mim-tip-reference" title="Gort, L., Santamaria, R., Grinberg, D., Vilageliu, L., Chabas, A. <strong>Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.</strong> Clin. Genet. 72: 109-111, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661814</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00843.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661814">Gort et al. (2007)</a> found that a clinically unaffected father of a patient with GM1-gangliosidosis had decreased GLB1 enzyme activity. Genetic analysis showed that he was compound heterozygous for a truncating mutation, found in his affected child, and an arg595-to-trp (R595W) substitution, which was not found in his affected child. Functional expression analysis showed that the R595W-mutant protein had 33 to 59% residual activity. The family originated from the Basque country of Spain. The R595W polymorphism was detected in 3.2% of Basque controls and 0.8% of non-Basque controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17661814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Mucopolysaccharidosis Type IVB (Morquio Syndrome B)</em></strong></p><p>
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In 3 affected individuals from 2 unrelated families with mucopolysaccharidosis type IVB (MPS4B; <a href="/entry/253010">253010</a>), <a href="#30" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in Morquio B disease.</strong> Am. J. Hum. Genet. 49: 1091-1093, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928092</a>]" pmid="1928092">Oshima et al. (1991)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene (<a href="#0009">611458.0009</a>-<a href="#0011">611458.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1928092" 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="#31" class="mim-tip-reference" title="Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. <strong>Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.</strong> Hum. Genet. 109: 159-166, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511921</a>] [<a href="https://doi.org/10.1007/s004390100570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511921">Paschke et al. (2001)</a> performed mutation analyses of the GLB1 gene in 17 juvenile and adult patients from various European regions with acid beta-galactosidase deficiency and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and had remained neurologically healthy, whereas the other 2 exhibited psychomotor retardation of juvenile onset. The W273L mutation (<a href="#0009">611458.0009</a>) was present in 14 of the 15 Morquio B patients. The Morquio phenotype was also expressed in compound heterozygotes for W273L and alleles typically found in GM1-gangliosidosis. One French patient with Morquio B syndrome was compound heterozygous for 2 mutations (Q408P; <a href="#0021">611458.0021</a> and T500A; <a href="#0020">611458.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. <strong>Morquio B disease: from pathophysiology towards diagnosis.</strong> Molec. Genet. Metab. 132: 180-188, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33558080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33558080</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33558080">Caciotti et al. (2021)</a> reported the GLB1 mutations in 9 patients, including 2 sib pairs, with MPS IVB. The mutations were identified by Sanger sequencing of the gene. Heterozygosity for the W273L (<a href="#0009">611458.0009</a>) mutation was identified in 7 patients. Three novel mutations were identified, including a splicing mutation (<a href="#0027">611458.0027</a>) and 2 missense mutations, V677G (<a href="#0028">611458.0028</a>) and Y192C. In 1 patient (patient 7), only a single mutation (W273L) was identified; however, a potential splicing defect excluding exons 2-7 was identified in this patient, leading <a href="#6" class="mim-tip-reference" title="Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. <strong>Morquio B disease: from pathophysiology towards diagnosis.</strong> Molec. Genet. Metab. 132: 180-188, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33558080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33558080</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33558080">Caciotti et al. (2021)</a> to hypothesize that a deep intronic mutation was also present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33558080" 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="#16" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. <strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong> Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841810">Hinek et al. (2000)</a> performed functional expression studies on several GLB1 mutations resulting in Morquio B disease (see, e.g., G438E, <a href="#0018">611458.0018</a>, T500A, W273L, and R482H, <a href="#0010">611458.0010</a>). All mutations were located in the coding region common to the lysosomal enzyme and the S-Gal/EBP protein, and none of the mutant proteins expressed EBP. In addition, studies of nonsense mutations in GM1-gangliosidosis with cardiac involvement (see, e.g., R351X, <a href="#0019">611458.0019</a>) that resulted in impairment of both protein regions also showed no EPB expression. Functional studies indicated that the Morquio syndrome B mutant and the cardiac involvement mutants showed impaired secretion of tropoelastin and did not assemble elastic fibers, resulting in impaired elastogenesis. In these mutants, coculturing with Chinese hamster ovary cells transfected with S-Gal cDNA resulted in improved deposition of elastic fibers. In contrast, cells from patients with missense mutations resulting in lysosomal beta-galactosidase deficiency, but not in S-Gal deficiency, assembled normal elastic fibers. The study validated functional roles of S-Gal in elastogenesis and elucidated an association between impaired elastogenesis and the development of connective tissue disorders in patients with Morquio B disease and in patients with infantile GM1-gangliosidosis with cardiac involvement. Thus, these disorders could be considered a 'secondary elastinopathy' (<a href="#46" class="mim-tip-reference" title="Urban, Z., Boyd, C. D. <strong>Elastic-fiber pathologies: primary defects in assembly--and secondary disorders in transport and delivery. (Editorial)</strong> Am. J. Hum. Genet. 67: 4-7, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841812</a>] [<a href="https://doi.org/10.1086/302987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841812">Urban and Boyd, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10841812+10841810" 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="#27" class="mim-tip-reference" title="O'Brien, J. S., Storb, R., Raff, R. F., Harding, J., Appelbaum, F., Morimoto, S., Kishimoto, Y., Graham, T., Ahern-Rindell, A., O'Brien, S. L. <strong>Bone marrow transplantation in canine GM1 gangliosidosis.</strong> Clin. Genet. 38: 274-280, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2125250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2125250</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03581.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2125250">O'Brien et al. (1990)</a> performed allogeneic bone marrow transplantation early in life in a case of canine GM1-gangliosidosis. Despite successful engraftment, no benefit was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2125250" 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="Prieur, D. J., Ahern-Rindell, A. J., Murnane, R. D. <strong>Animal model of human disease: ovine GM-1 gangliosidosis.</strong> Am. J. Path. 139: 1511-1513, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1750516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1750516</a>]" pmid="1750516">Prieur et al. (1991)</a> described GM1-gangliosidosis in sheep in which deficiency of beta-galactosidase was coupled with a deficiency of alpha-neuraminidase. <a href="#42" class="mim-tip-reference" title="Skelly, B. J., Jeffrey, M., Franklin, R. J. M., Winchester, B. G. <strong>A new form of ovine GM1-gangliosidosis.</strong> Acta Neuropath. 89: 374-379, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610770</a>] [<a href="https://doi.org/10.1007/BF00309632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7610770">Skelly et al. (1995)</a> described a new form of ovine GM1-gangliosidosis in which there was a specific deficiency of lysosomal beta-D-galactosidase only. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7610770+1750516" 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="#14" class="mim-tip-reference" title="Hahn, C. N., del Pilar Martin, M., Schroder, M., Vanier, M. T., Hara, Y., Suzuki, K., Suzuki, K., d'Azzo, A. <strong>Generalized CNS disease and massive G(M1)-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.</strong> Hum. Molec. Genet. 6: 205-211, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063740</a>] [<a href="https://doi.org/10.1093/hmg/6.2.205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063740">Hahn et al. (1997)</a> generated a mouse model lacking a functional beta-galactosidase gene by homologous recombination and embryonic stem cell technology. Tissues from affected mice were devoid of beta-galactosidase mRNA and totally deficient in GM1-ganglioside-hydrolyzing capacity. Storage material was already conspicuous in the brain at 3 weeks. By 5 weeks, extensive storage of periodic acid Schiff-positive material was observed in neurons throughout the brain and spinal cord. Consistent with the neuropathology, abnormal accumulations of GM1-ganglioside in the brain progressed from twice to almost 5 times the normal amount during the period from 3 weeks to 3.5 months. Despite accumulation of brain GM1-ganglioside at the level equal to or exceeding that seen in gravely ill human patients, these mice showed no overt clinical phenotype up to 4 to 5 months. However, tremor, ataxia, and abnormal gait became apparent in older mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063740" 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="#45" class="mim-tip-reference" title="Tohyama, J., Vanier, M. T., Suzuki, K., Ezoe, T., Matsuda, J., Suzuki, K. <strong>Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).</strong> Hum. Molec. Genet. 9: 1699-1707, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861297</a>] [<a href="https://doi.org/10.1093/hmg/9.11.1699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861297">Tohyama et al. (2000)</a> crossbred 'twitcher' mice (galactosylceramidase deficiency; <a href="/entry/245200">245200</a>) with Glb1 knockout mice and found that the acid beta-galactosidase gene dosage exerted an unexpected and paradoxical influence on the twitcher phenotype. Twitcher mice with an additional complete deficiency of Glb1 (Galc-/-, Glb1-/-) had the mildest phenotype among twitcher mice of all genotypes, with the longest life span and nearly rescued central nervous system pathology. In contrast, twitcher mice with a single functional acid beta-galactosidase gene (Galc-/-, Glb1+/-) had the most severe disease, with the shortest life span and brain levels of psychosine even higher than those of twitcher mice. The double knockout mice showed a massive accumulation of lactosylceramide in all tissues as expected, but only a half-normal amount of galactosylceramide in brain. The authors hypothesized that the acid beta-galactosidase gene may function as a modifier gene for the phenotypic expression of galactosylceramidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861297" 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>Portuguese water dogs have a naturally occurring GM1-gangliosidosis that resembles the human disease genetically, clinically, biochemically, and pathologically. It is similar to human infantile and juvenile forms of the disorder. <a href="#47" class="mim-tip-reference" title="Wang, Z. H., Zeng, B., Shibuya, H., Johnson, G. S., Alroy, J., Pastores, G. M., Raghavan, S., Kolodny, E. H. <strong>Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.</strong> J. Inherit. Metab. Dis. 23: 593-606, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032334</a>] [<a href="https://doi.org/10.1023/a:1005630013448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032334">Wang et al. (2000)</a> isolated and sequenced the beta-galactosidase cDNA in Portuguese water dogs. The gene encodes a deduced protein of 668 amino acids. Its coding sequence is 86.5% identical at the nucleotide level and 81% identical at the amino acid level to human acid beta-galactosidase. A homozygous recessive mutation, 200G-A (R60H), was found to cause canine GM1-gangliosidosis. The mutation created a new restriction enzyme site for Pml1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032334" 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="Fan, J.-Q., Ishii, S., Asano, N., Suzuki, Y. <strong>Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.</strong> Nature Med. 5: 112-115, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9883849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9883849</a>] [<a href="https://doi.org/10.1038/4801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9883849">Fan et al. (1999)</a> proposed a molecular therapeutic strategy for Fabry disease (<a href="/entry/301500">301500</a>) in which competitive inhibitors are administered as 'chemical chaperones' at subinhibitory intracellular concentrations. Using a similar approach, <a href="#19" class="mim-tip-reference" title="Matsuda, J., Suzuki, O., Oshima, A., Yamamoto, Y., Noguchi, A., Takimoto, K., Itoh, M., Matsuzaki, Y., Yasuda, Y., Ogawa, S., Sakata, Y., Nanba, E., Higaki, K., Ogawa, Y., Tominaga, L., Ohno, K., Iwasaki, H., Watanabe, H., Brady, R. O., Suzuki, Y. <strong>Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.</strong> Proc. Nat. Acad. Sci. 100: 15912-15917, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14676316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14676316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14676316[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.2536657100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14676316">Matsuda et al. (2003)</a> synthesized a galactose derivative, N-octyl-4-epi-valienamine (NOEV), for a molecular therapy of beta-galactosidosis. They showed that NOEV is a potent inhibitor of lysosomal beta-galactosidase in vitro. Addition of the inhibitor in the culture medium restored mutant enzyme activity in cultured human or murine fibroblasts at low intracellular concentrations, resulting in a marked decrease of intracellular substrate storage. Short-term oral administration of NOEV to a mouse model of juvenile GM1-gangliosidosis, expressing the human R201C (<a href="#0003">611458.0003</a>) mutant enzyme protein, resulted in significant enhancement of the enzyme activity in the brain and other tissues. Immunohistochemical stain revealed a decrease in the amount of GM1 and GA1 in neuronal cells in the frontotemporal cerebral cortex and brainstem. <a href="#19" class="mim-tip-reference" title="Matsuda, J., Suzuki, O., Oshima, A., Yamamoto, Y., Noguchi, A., Takimoto, K., Itoh, M., Matsuzaki, Y., Yasuda, Y., Ogawa, S., Sakata, Y., Nanba, E., Higaki, K., Ogawa, Y., Tominaga, L., Ohno, K., Iwasaki, H., Watanabe, H., Brady, R. O., Suzuki, Y. <strong>Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.</strong> Proc. Nat. Acad. Sci. 100: 15912-15917, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14676316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14676316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14676316[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.2536657100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14676316">Matsuda et al. (2003)</a> concluded that chemical chaperone therapy may be useful for certain patients with beta-galactosidosis and potentially other lysosomal storage diseases with central nervous system involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14676316+9883849" 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 mouse brain, <a href="#36" class="mim-tip-reference" title="Sano, R., Annunziata, I., Patterson, A., Moshiach, S., Gomero, E., Opferman, J., Forte, M., d'Azzo, A. <strong>GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.</strong> Molec. Cell 36: 500-511, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19917257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19917257</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19917257[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.10.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19917257">Sano et al. (2009)</a> demonstrated that Glb1 is a normal constituent of mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), which define the sites of ER/mitochondrial juxtaposition that control calcium influx between these organelles. Brains of Glb1-null mice showed GM1 accumulation in glycosphingolipid fractions of these membranes, and was associated with increased levels of phosphorylated Ip3r1 (ITPR1; <a href="/entry/147265">147265</a>), a calcium channel. These findings were also associated with altered mitochondrial calcium homeostasis: increased calcium levels in mitochondria resulted in mitochondrial membrane permeabilization, opening of the permeability transition pore, and activation of the mitochondrial apoptotic pathway. These effects could be reversed with a calcium blocker. <a href="#36" class="mim-tip-reference" title="Sano, R., Annunziata, I., Patterson, A., Moshiach, S., Gomero, E., Opferman, J., Forte, M., d'Azzo, A. <strong>GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.</strong> Molec. Cell 36: 500-511, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19917257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19917257</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19917257[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.molcel.2009.10.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19917257">Sano et al. (2009)</a> concluded that pathologic GM1 accumulation alters the normal crosstalk between ER and mitochondria, promoting the formation of a calcium-channel megapore that results in an ER stress response and a disruption in mitochondrial homeostasis, ultimately causing neuronal cell death. The findings also pointed to a role for GM1 in the regulation of calcium influx between the ER and mitochondria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19917257" 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="#10" class="mim-tip-reference" title="de Wit, J., Hoeksema, H. L., Halley, D., Hagemeijer, A., Bootsma, D., Westerveld, A. <strong>Regional localization of a beta-galactosidase locus on human chromosome 22.</strong> Somat. Cell Genet. 3: 351-363, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/414365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">414365</a>] [<a href="https://doi.org/10.1007/BF01542965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="414365">De Wit et al. (1977)</a> and <a href="#9" class="mim-tip-reference" title="de Wit, J., Hoeksema, H. L., Bootsma, D., Westerveld, A. <strong>Assignment of structural beta-galactosidase loci to human chromosomes 3 and 22. (Abstract)</strong> Cytogenet. Cell Genet. 25: 217, 1979."None>de Wit et al. (1979)</a> concluded that a beta-galactosidase locus was on chromosome 22 (22q13-qter). This locus was designated beta-galactosidase-2 (GLB2), but subsequent studies showed that 'the second beta-galactosidase locus' codes for a lysosomal protective protein (CTSA; <a href="/entry/613111">613111</a>) for both beta-galactosidase and neuraminidase and is situated on chromosome 20, not 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=414365" 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 study of mouse-man somatic hybrid cells, <a href="#35" class="mim-tip-reference" title="Rushton, A. R., Dawson, G. <strong>Genetic linkage studies of the human glycosphingolipid beta-galactosidases.</strong> Biochem. Genet. 15: 1071-1082, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/414740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">414740</a>] [<a href="https://doi.org/10.1007/BF00484498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="414740">Rushton and Dawson (1977)</a> concluded that all the glycosphingolipid beta-galactosidases are on chromosome 12, but the authors could not answer the question of the number of separate beta-galactosidases. However, <a href="#9" class="mim-tip-reference" title="de Wit, J., Hoeksema, H. L., Bootsma, D., Westerveld, A. <strong>Assignment of structural beta-galactosidase loci to human chromosomes 3 and 22. (Abstract)</strong> Cytogenet. Cell Genet. 25: 217, 1979."None>de Wit et al. (1979)</a> found no evidence of a GLB1 locus on chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=414740" 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 case of de novo interstitial deletion of 3p14.2-p11, <a href="#15" class="mim-tip-reference" title="Hertz, J. M., Coerdt, W., Hahnemann, N., Schwartz, M. <strong>Interstitial deletion of the short arm of chromosome 3: fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11-p14.2).</strong> Hum. Genet. 79: 389-391, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3137147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3137147</a>] [<a href="https://doi.org/10.1007/BF00282185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3137147">Hertz et al. (1988)</a> found normal levels of beta-galactosidase-1, thus excluding this region as the site of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3137147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>29 Selected Examples</a>):</strong>
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<a href="/allelicVariants/611458" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611458[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 GM1-GANGLIOSIDOSIS, TYPE I</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> rs72555358 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555358;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/rs72555358?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=rs72555358" 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=rs72555358" 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=RCV000000971 OR RCV000175599 OR RCV000672371 OR RCV000707313 OR RCV001778644" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000971, RCV000175599, RCV000672371, RCV000707313, RCV001778644" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000971...</a>
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<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#26" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. <strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong> Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>]" pmid="1909089">Nishimoto et al. (1991)</a> identified a 145C-T transition in the GLB1 gene, resulting in an arg49-to-cys (R49C) substitution. A putative second mutant allele was not identified. GLB1 mRNA was decreased, but detectable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 GM1-GANGLIOSIDOSIS, TYPE I</strong>
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GLB1, ARG457TER
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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> rs72555359 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555359;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/rs72555359?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=rs72555359" 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=rs72555359" 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=RCV000000972 OR RCV000667074 OR RCV001058421 OR RCV001174734 OR RCV001781153 OR RCV005208117" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000972, RCV000667074, RCV001058421, RCV001174734, RCV001781153, RCV005208117" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000972...</a>
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<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#26" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. <strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong> Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>]" pmid="1909089">Nishimoto et al. (1991)</a> identified a homozygous 1369C-T transition in the GLB1 gene, resulting in an arg457-to-ter (R457X) substitution. GLB1 mRNA was undetectable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" 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 GM1-GANGLIOSIDOSIS, TYPE II</strong>
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GLB1, ARG201CYS
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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> rs72555360 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555360;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/rs72555360?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=rs72555360" 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=rs72555360" 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=RCV000000973 OR RCV000256168 OR RCV000269582 OR RCV000410436 OR RCV000411359 OR RCV000411949 OR RCV001208622 OR RCV004737133 OR RCV005024979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000973, RCV000256168, RCV000269582, RCV000410436, RCV000411359, RCV000411949, RCV001208622, RCV004737133, RCV005024979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000973...</a>
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<p>In 4 Japanese patients with the juvenile form of GM1-gangliosidosis (GM1G2; <a href="/entry/230600">230600</a>), <a href="#26" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. <strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong> Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>]" pmid="1909089">Nishimoto et al. (1991)</a> identified a 601C-T transition in exon 6 of the GLB1 gene, resulting in an arg201-to-cys (R201C) substitution. One patient was homozygous for the mutation; the second mutant allele could not be identified in the 3 remaining patients. All had detectable GLB1 mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" 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="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> identified a heterozygous R201C mutation in a Japanese patient with the late infantile form of GM1-gangliosidosis (see <a href="/entry/230600">230600</a>). <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> stated that the nucleotide change was 635C-T. A second mutant GLB1 allele was not identified. Beta-galactosidase activity was 3% of normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" 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="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al. (2003)</a> found that the R201C mutant enzyme had 12.9% residual activity, but that activity was decreased to 3.8% when combined with an in cis L436F polymorphism, indicating that the polymorphism could modulate enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" 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 GM1-GANGLIOSIDOSIS, TYPE III</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">rs72555390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555390;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=rs72555390" 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=rs72555390" 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=RCV000000974 OR RCV000671053 OR RCV001582457 OR RCV001851520 OR RCV004799723" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000974, RCV000671053, RCV001582457, RCV001851520, RCV004799723" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000974...</a>
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<p>In 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis (GM1G3; <a href="/entry/230650">230650</a>), <a href="#26" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. <strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong> Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>]" pmid="1909089">Nishimoto et al. (1991)</a> identified a 152T-C transition in the GLB1 gene, resulting in an ile51-to-thr (I51T) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" 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>Yoshida et al. (<a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">1991</a>, <a href="#49" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Sakuraba, H., Nakano, T., Yanagisawa, N., Inui, K., Okada, S., Uyama, E., Namba, R., Kondo, K., Iwasaki, S., Takamiya, K., Suzuki, Y. <strong>GM1 Gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.</strong> Ann. Neurol. 31: 328-332, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353343</a>] [<a href="https://doi.org/10.1002/ana.410310316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353343">1992</a>) found the I51T mutation in Japanese patients with adult GM1-gangliosidosis. The authors stated that the nucleotide change was 186T-C. All patients except 1 were homozygotes. One patient was a compound heterozygote with an R457Q mutation (<a href="#0008">611458.0008</a>). Clinically, the compound heterozygous patient showed more severe neurologic manifestations and a more rapid clinical course than did the homozygotes. The I51T allele showed 5.28 to 7.28% residual enzyme activity, whereas the compound heterozygous patient had 4.24% residual activity. The mutations causing residual enzyme activity appeared to be related to severity of clinical manifestations, but other genetic or environmental factors likely also contributed to the phenotype since there was considerable variation in age of onset and clinical course among I51T homozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1353343+1907800" 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 GM1-GANGLIOSIDOSIS, TYPE I</strong>
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GLB1, 165-BP DUP
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000975" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000975" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000975</a>
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<p>In 2 Japanese patients with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> found a 165-bp duplication (positions 1103-1267), producing an abnormally large mRNA. One patient was probably homozygous and the other heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0006 GM1-GANGLIOSIDOSIS, TYPE I</strong>
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GLB1, GLY123ARG
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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> rs28934274 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28934274;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/rs28934274?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=rs28934274" 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=rs28934274" 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=RCV000000976 OR RCV000196532 OR RCV000428850 OR RCV001217770 OR RCV004799724" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000976, RCV000196532, RCV000428850, RCV001217770, RCV004799724" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000976...</a>
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<span class="mim-text-font">
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<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> found a 401G-A transition in the GLB1 gene, resulting in a gly123-to-arg (G123R) substitution. The patient had 0.65% residual enzyme activity. A second mutant allele was not identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" 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="0007" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0007 GM1-GANGLIOSIDOSIS, TYPE I</strong>
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GLB1, TYR316CYS
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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> rs72555361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555361;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/rs72555361?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=rs72555361" 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=rs72555361" 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=RCV000000977 OR RCV000673295" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000977, RCV000673295" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000977...</a>
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<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> identified a 981A-G transition in the GLB1 gene, resulting in a tyr316-to-cys (Y316C) substitution. The patient had 0.69% residual enzyme activity. A second mutant allele was not identified. In the same patient, <a href="#29" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Ishizaki, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.</strong> Clin. Genet. 41: 235-238, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606711</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03672.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1606711">Oshima et al. (1992)</a> identified the second mutant GLB1 allele, a 23-bp duplication in exon 3 (<a href="#0012">611458.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1606711+1907800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0008 GM1-GANGLIOSIDOSIS, TYPE III</strong>
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GLB1, ARG457GLN
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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> rs28934886 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28934886;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/rs28934886?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=rs28934886" 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=rs28934886" 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=RCV000000978 OR RCV001378633 OR RCV001810396 OR RCV002281684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000978, RCV001378633, RCV001810396, RCV002281684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000978...</a>
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<p>In a Japanese patient with the adult/chronic form of GM1-gangliosidosis (GM1G3; <a href="/entry/230650">230650</a>), <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1404G-A transition resulting in an arg457-to-gln (R457Q) substitution, and I51T (<a href="#0004">611458.0004</a>). Beta-galactosidase activity was 4.24% of normal controls in patient lymphoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" 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="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
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GLB1, TRP273LEU
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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> rs72555362 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555362;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/rs72555362?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=rs72555362" 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=rs72555362" 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=RCV000000979 OR RCV004566665" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000979, RCV004566665" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000979...</a>
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<p>In 3 affected individuals from 2 unrelated families with Morquio syndrome B (MPS4B; <a href="/entry/253010">253010</a>), also known as mucopolysaccharidosis type IVB, <a href="#30" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in Morquio B disease.</strong> Am. J. Hum. Genet. 49: 1091-1093, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928092</a>]" pmid="1928092">Oshima et al. (1991)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene. All patients shared a heterozygous 851-852TG-CT change, resulting in a trp273-to-leu (W273L) substitution, and another pathogenic change (R482H, <a href="#0010">611458.0010</a> and W509C, <a href="#0011">611458.0011</a>, respectively). The W273L mutant showed 8% residual enzyme activity. The R482H mutant and W509C mutants had no residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1928092" 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="#31" class="mim-tip-reference" title="Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. <strong>Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.</strong> Hum. Genet. 109: 159-166, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511921</a>] [<a href="https://doi.org/10.1007/s004390100570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511921">Paschke et al. (2001)</a> identified the W273L mutation in 14 of 15 Morquio syndrome B patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511921" 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 MUCOPOLYSACCHARIDOSIS, TYPE IVB</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> rs72555391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555391;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/rs72555391?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=rs72555391" 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=rs72555391" 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=RCV000000981 OR RCV000119099 OR RCV000174679 OR RCV000586055 OR RCV001034863 OR RCV002476905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000981, RCV000119099, RCV000174679, RCV000586055, RCV001034863, RCV002476905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000981...</a>
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<p>For discussion of the 1479G-A transition in the GLB1 gene, resulting in an arg482-to-his (R482H) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis syndrome IVB (MPS4B; <a href="/entry/253010">253010</a>) by <a href="#30" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in Morquio B disease.</strong> Am. J. Hum. Genet. 49: 1091-1093, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928092</a>]" pmid="1928092">Oshima et al. (1991)</a>, see <a href="#0009">611458.0009</a>. transition in the GLB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1928092" 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>Studying several Italian patients with infantile GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#24" class="mim-tip-reference" title="Mosna, G., Fattore, S., Tubiello, G., Brocca, S., Trubia, M., Gianazza, E., Gatti, R., Danesino, C., Minelli, A., Piantanida, M. <strong>A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.</strong> Hum. Genet. 90: 247-250, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487238</a>] [<a href="https://doi.org/10.1007/BF00220071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487238">Mosna et al. (1992)</a> found 1 patient who was homozygous for the R482H substitution. The R482H mutation was found in the heterozygous state in 6 other unrelated patients with the severe form of GM1-gangliosidosis, but not in 100 normal chromosomes. Thus, depending on the allele with which it is paired, the R482H substitution can result in either severe or relatively mild disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1487238" 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="Suzuki, Y., Oshima, A. <strong>A beta-galactosidase gene mutation identified in both Morquio B disease and infantile G(M1) gangliosidosis. (Letter)</strong> Hum. Genet. 91: 407, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8500799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8500799</a>] [<a href="https://doi.org/10.1007/BF00217370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8500799">Suzuki and Oshima (1993)</a> likewise emphasized the occurrence of wide variation in the clinical phenotype observed with the R482H mutation depending on the nature of the second allele with which it is paired. It may lead to juvenile (<a href="/entry/230600">230600</a>) or chronic/adult (<a href="/entry/230650">230650</a>) GM1-gangliosidosis or intermediate types between infantile GM1-gangliosidosis and Morquio syndrome type B. They suggested the designation 'beta-galactosidosis' for this group of diseases with mutations of the GLB1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8500799" 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">rs72555363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555363;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=rs72555363" 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=rs72555363" 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=RCV000000982 OR RCV003764504" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000982, RCV003764504" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000982...</a>
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<p>For discussion of the 1561G-T transversion in the GLB1 gene, resulting in a trp509-to-cys (W509C) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB by <a href="#30" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in Morquio B disease.</strong> Am. J. Hum. Genet. 49: 1091-1093, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1928092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1928092</a>]" pmid="1928092">Oshima et al. (1991)</a>, see <a href="#0009">611458.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1928092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 GM1-GANGLIOSIDOSIS, TYPE I</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">rs587776524 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776524;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=rs587776524" 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=rs587776524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 5-year-old boy with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#29" class="mim-tip-reference" title="Oshima, A., Yoshida, K., Ishizaki, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. <strong>GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.</strong> Clin. Genet. 41: 235-238, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606711</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03672.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1606711">Oshima et al. (1992)</a> found compound heterozygosity for 2 mutations in the GLB1 gene: a 23-bp duplication in exon 3 and Y316C (<a href="#0007">611458.0007</a>). The duplication resulted in a premature stop codon after translation of 36 amino acids. Homologous sequences in the area of duplication suggested that the mutation resulted from an unequal crossover. The boy had hepatomegaly and liver dysfunction at 6 months of age. Cherry-red spots were found bilaterally at the age of 1 year and the diagnosis of GM1-gangliosidosis was made. He deteriorated to a state of decerebrate rigidity by the age of 5 years. The patient had previously been reported by <a href="#50" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. <strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong> Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>]" pmid="1907800">Yoshida et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1606711+1907800" 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> rs72555393 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555393;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/rs72555393?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=rs72555393" 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=rs72555393" 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=RCV000000984 OR RCV000624609 OR RCV000669063 OR RCV001068811 OR RCV001559063 OR RCV004546408" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000984, RCV000624609, RCV000669063, RCV001068811, RCV001559063, RCV004546408" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000984...</a>
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<p>In affected members of 2 presumably unrelated families of Scandinavian origin with adult GM1-gangliosidosis (GM1G3; <a href="/entry/230650">230650</a>), <a href="#7" class="mim-tip-reference" title="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> identified a heterozygous 245C-T transition in the GLB1 gene, resulting in a thr82-to-met (T82M) substitution. Nucleotide 245 is part of a split codon that straddles the intron between exons 2 and 3. Functional expression studies showed that the mutant protein had 3 to 4% residual enzyme activity. The 245C-T transition was inherited from the father in both families. In 1 family, the other allele showed a splice site mutation (<a href="#0014">611458.0014</a>) with no residual activity. Thus, the T82M substitution resulted in enough functional enzyme to produce a mild adult form of the disease, even in the presence of a second mutation that probably produced a nonfunctional enzyme. <a href="#7" class="mim-tip-reference" title="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> speculated that homozygosity for the T82M mutation might present in late life with symptoms resembling those of basal ganglia disease, such as Parkinson disease, since <a href="#12" class="mim-tip-reference" title="Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K. <strong>Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features.</strong> Ann. Neurol. 9: 465-475, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6791574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6791574</a>] [<a href="https://doi.org/10.1002/ana.410090509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6791574">Goldman et al. (1981)</a> showed that in the adult form of GM1-gangliosidosis, storage is focal and confined mainly to basal ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8198123+6791574" 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>.0014 GM1-GANGLIOSIDOSIS, TYPE I</strong>
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GM1-GANGLIOSIDOSIS, TYPE III, INCLUDED
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GLB1, IVS1DS, 1-BP INS, +3
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776525 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776525;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=rs587776525" 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=rs587776525" 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=RCV000000985 OR RCV000412989 OR RCV000781443 OR RCV000796145 OR RCV001376158 OR RCV003338377 OR RCV004975256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000985, RCV000412989, RCV000781443, RCV000796145, RCV001376158, RCV003338377, RCV004975256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000985...</a>
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<p>In 2 sibs affected by the severe infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#23" class="mim-tip-reference" title="Morrone, A., Morreau, H., Zhou, X. Y., Zammarchi, E., Kleijer, W. J., Galjaard, H., d'Azzo, A. <strong>Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.</strong> Hum. Mutat. 3: 112-120, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8199591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8199591</a>] [<a href="https://doi.org/10.1002/humu.1380030205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8199591">Morrone et al. (1994)</a> identified homozygosity for a 1-bp insertion (insT) in the +3 position of intron 1 of the GLB1 gene immediately downstream of the conserved GT splice donor dinucleotide. The insertion resulted in 2 aberrant transcripts, 1 containing a 20-nucleotide insertion derived from the 5-prime end of intron 1 and a second in which sequences encoded by exon 2 were deleted during the splicing process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8199591" 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="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> identified heterozygosity for the intron 1 insT mutation in 2 sibs with GM1-gangliosidosis. They were compound heterozygous for another GLB1 mutation that had residual enzyme activity, T82M (<a href="#0013">611458.0013</a>), yielding a phenotype consistent with the adult form of the disorder (GM1G3; <a href="/entry/230650">230650</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198123" 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 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
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GLB1, TYR83HIS
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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> rs72555364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555364;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/rs72555364?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=rs72555364" 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=rs72555364" 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=RCV000000986" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000986" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000986</a>
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<p>In a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurologic manifestations (MPS4B; <a href="/entry/253010">253010</a>), <a href="#18" class="mim-tip-reference" title="Ishii, N., Oohira, T., Oshima, A., Sakuraba, H., Endo, F., Matsuda, I., Sukegawa, K., Orii, T., Suzuki, Y. <strong>Clinical and molecular analysis of a Japanese boy with Morquio B disease.</strong> Clin. Genet. 48: 103-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586649</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04065.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586649">Ishii et al. (1995)</a> found compound heterozygosity for 2 mutations in the GLB1 gene: a tyr83-to-his (Y83H) substitution and R482C (<a href="#0016">611458.0016</a>). The R482C mutant was found to express no detectable enzyme activity, whereas the Y83H expressed a low enzyme activity (2 to 5% of normal). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586649" 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 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
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GLB1, ARG482CYS
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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> rs72555365 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555365;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/rs72555365?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=rs72555365" 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=rs72555365" 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=RCV000119100 OR RCV000665872 OR RCV001376852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000119100, RCV000665872, RCV001376852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000119100...</a>
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<p>For discussion of the arg482-to-cys (R482C) mutation in the GLB1 gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB (MPS4B; <a href="/entry/253010">253010</a>) by <a href="#18" class="mim-tip-reference" title="Ishii, N., Oohira, T., Oshima, A., Sakuraba, H., Endo, F., Matsuda, I., Sukegawa, K., Orii, T., Suzuki, Y. <strong>Clinical and molecular analysis of a Japanese boy with Morquio B disease.</strong> Clin. Genet. 48: 103-108, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586649</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04065.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586649">Ishii et al. (1995)</a>, see <a href="#0015">611458.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586649" 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 GM1-GANGLIOSIDOSIS, TYPE I</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> rs72555366 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555366;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/rs72555366?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=rs72555366" 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=rs72555366" 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=RCV000000988 OR RCV000179306 OR RCV000586182 OR RCV000633470 OR RCV000984269 OR RCV000984270 OR RCV000984271 OR RCV002512629 OR RCV005024980" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000988, RCV000179306, RCV000586182, RCV000633470, RCV000984269, RCV000984270, RCV000984271, RCV002512629, RCV005024980" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000988...</a>
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<p><a href="#4" class="mim-tip-reference" title="Boustany, R. M., Qian, W. H., Suzuki, K. <strong>Mutations in acid beta-galactosidase gene cause GM1-gangliosidosis in American patients.</strong> Am. J. Hum. Genet. 53: 881-888, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213816</a>]" pmid="8213816">Boustany et al. (1993)</a> reported that 2 of 6 patients of Puerto Rican origin with infantile GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>) were homozygous for a 622C-T transition in the GLB1 gene, resulting in an arg208-to-cys (R208C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213816" 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 subsequent analysis, <a href="#8" class="mim-tip-reference" title="Chiu, N.-C., Qian, W.-H., Shanske, A. L., Brooks, S. S., Boustany, R.-M. <strong>A common mutation site in the beta-galactosidase gene originates in Puerto Rico.</strong> Pediat. Neurol. 14: 53-56, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8652017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8652017</a>] [<a href="https://doi.org/10.1016/0887-8994(95)00255-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8652017">Chiu et al. (1996)</a> found that 3 of 4 additional patients with infantile GM1-gangliosidosis were of Puerto Rican ancestry. Of these, 2 were homozygotes for the R208C mutation, and another patient, also Puerto Rican, was a heterozygote. The authors hypothesized that this mutation arose in Puerto Rico and subsequently moved to South and North America. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8652017" 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">rs72555367 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555367;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=rs72555367" 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=rs72555367" 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=RCV000000989 OR RCV000850556 OR RCV001091796 OR RCV001382999 OR RCV001843450" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000989, RCV000850556, RCV001091796, RCV001382999, RCV001843450" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000989...</a>
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<p><a href="#16" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. <strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong> Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841810">Hinek et al. (2000)</a> reported a patient with Morquio syndrome B (MPS4B; <a href="/entry/253010">253010</a>) who had a homozygous gly438-to-glu (G438E) substitution in the GLB1 gene. The substitution is located in the coding region common to the lysosomal enzyme and the S-Gal/EBP protein, resulting in disruption of this splice variant. Fibroblasts derived from this patient showed impaired tropoelastin secretion and lack of assembly into extracellular insoluble elastin. The results suggested that cellular deficiency of S-Gal underlies the connective tissue and skeletal deformations characteristic of Morquio syndrome B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10841810" 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 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</strong>
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GLB1, ARG351TER
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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> rs72555372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555372;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/rs72555372?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=rs72555372" 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=rs72555372" 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=RCV000000990 OR RCV000665526 OR RCV000780302 OR RCV001223149 OR RCV001331201 OR RCV001642195 OR RCV002225254" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000990, RCV000665526, RCV000780302, RCV001223149, RCV001331201, RCV001642195, RCV002225254" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000990...</a>
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<p>In a patient with infantile GM1-gangliosidosis and cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#16" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. <strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong> Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841810">Hinek et al. (2000)</a> identified a mutation in the GLB1 gene, resulting in an arg351-to-ter (R351X) substitution. The mutant protein was associated with impaired elastogenesis due to destabilization of both beta-galactosidase and S-Gal mRNAs. Beta-galactosidase activity was less than 2% of control values. In addition to classic features of type I disease, the patient had cardiomegaly, congestive heart failure, left ventricular hypertrophy, and decreased contractility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10841810" 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 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
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GLB1, THR500ALA
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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> rs72555368 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555368;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/rs72555368?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=rs72555368" 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=rs72555368" 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=RCV000000991 OR RCV000673423 OR RCV001040694 OR RCV001818116 OR RCV002281685 OR RCV003137481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000991, RCV000673423, RCV001040694, RCV001818116, RCV002281685, RCV003137481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000991...</a>
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<p>In a French patient with the Morquio syndrome B phenotype (MPS4B; <a href="/entry/253010">253010</a>), <a href="#31" class="mim-tip-reference" title="Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. <strong>Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.</strong> Hum. Genet. 109: 159-166, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511921</a>] [<a href="https://doi.org/10.1007/s004390100570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511921">Paschke et al. (2001)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1532A-C transversion resulting in a thr500-to-ala (T500A) substitution, and Q408P (<a href="#0021">611458.0021</a>). The T500A mutation had been studied by <a href="#16" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. <strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong> Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10841810">Hinek et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10841810+11511921" 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 MUCOPOLYSACCHARIDOSIS, TYPE IVB</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">rs72555369 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555369;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=rs72555369" 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=rs72555369" 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=RCV000000992 OR RCV000667601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000992, RCV000667601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000992...</a>
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<p>In a patient with Morquio syndrome type B (MPS4B; <a href="/entry/253010">253010</a>), <a href="#31" class="mim-tip-reference" title="Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. <strong>Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.</strong> Hum. Genet. 109: 159-166, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511921</a>] [<a href="https://doi.org/10.1007/s004390100570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511921">Paschke et al. (2001)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1257A-G transition resulting in a gln408-to-pro (Q408P) substitution, and T500A (<a href="#0020">611458.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511921" 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>.0022 GM1-GANGLIOSIDOSIS, TYPE II</strong>
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GLB1, ARG68TRP
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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> rs72555370 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555370;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/rs72555370?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=rs72555370" 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=rs72555370" 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=RCV000000993 OR RCV000760159 OR RCV001235447 OR RCV004589492 OR RCV005031376" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000993, RCV000760159, RCV001235447, RCV004589492, RCV005031376" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000993...</a>
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<p>In a child with the late-infantile form of GM1-gangliosidosis (GM1G2; <a href="/entry/230600">230600</a>) with onset at age 17 months, <a href="#5" class="mim-tip-reference" title="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al. (2003)</a> found compound heterozygosity for 2 mutations in the GLB1 gene. One allele was a complex allele consisting of the R201C substitution (<a href="#0003">611458.0003</a>) and a leu436-to-phe (L436F) polymorphism in cis inherited from the mother, and the other allele had a 202C-T transition resulting in an arg68-to-trp (R68W) substitution inherited from the father. Biochemical studies showed 1.4% residual enzyme activity in the patient's leukocytes. Further studies showed that the R68W change rendered GLB1 enzymatically inactive and the R201C mutant gave 12.9% residual activity. However, the R201C and L436F allele had only 3.8% residual activity, indicating that the polymorphism could modulate enzyme activity. The child developed blindness and spasticity at age 3 years and died of renal failure at age 6.5 years. The clinical and molecular characterization of the disorder in this patient as late-infantile GM1-gangliosidosis was in keeping with a clear-cut division between 2 forms of the type II phenotype. The L436F polymorphism was thought to modify the effect of the R201C mutation in the direction of greater severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" 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>.0023 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</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> rs72555392 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555392;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/rs72555392?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=rs72555392" 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=rs72555392" 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=RCV000000994 OR RCV000000995 OR RCV000059350 OR RCV000078708 OR RCV000175600 OR RCV000778693 OR RCV000811276 OR RCV000850557 OR RCV000984179 OR RCV004018531 OR RCV004545719" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000994, RCV000000995, RCV000059350, RCV000078708, RCV000175600, RCV000778693, RCV000811276, RCV000850557, RCV000984179, RCV004018531, RCV004545719" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000994...</a>
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<p>In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#22" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E. <strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong> Hum. Mutat. 15: 354-366, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737981">Morrone et al. (2000)</a> identified a homozygous 176G-A transition in exon 2 of the GLB1 gene, resulting in an arg59-to-his (R59H) substitution within the region common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patients showed dilated cardiomyopathy and hypertrophic cardiomyopathy, respectively . <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737981" 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="#37" class="mim-tip-reference" title="Santamaria, R., Blanco, M., Chabas, A., Grinberg, D., Vilageliu, L. <strong>Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.</strong> Clin. Genet. 71: 273-279, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00767.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17309651">Santamaria et al. (2007)</a> identified the R59H mutation in 6 (15.8%) of 38 mutant GLB1 alleles in patients with GM1-gangliosidosis from South America, mainly Argentina. All had the type I phenotype (GM1G1; <a href="/entry/230500">230500</a>). Two unrelated patients of Gypsy origin were homozygous for this mutation. Some, but apparently not all, had cardiac involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309651" 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>.0024 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</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> rs587776526 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776526;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/rs587776526?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=rs587776526" 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=rs587776526" 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=RCV000000996 OR RCV000790562 OR RCV001049270 OR RCV001251276 OR RCV002243610 OR RCV002470702 OR RCV002496221" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000996, RCV000790562, RCV001049270, RCV001251276, RCV002243610, RCV002470702, RCV002496221" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000996...</a>
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<p>In an infant with type I GM1-gangliosidosis with cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#22" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E. <strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong> Hum. Mutat. 15: 354-366, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737981">Morrone et al. (2000)</a> identified a homozygous A-to-G transition in intron 14 of the GLB1 gene, resulting in a frameshift and premature termination. The splice site occurs in a region that is common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patient showed dilated cardiomyopathy and a hypertrophied left ventricle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737981" 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>.0025 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</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> rs72555373 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555373;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/rs72555373?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=rs72555373" 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=rs72555373" 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=RCV000000997" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000997" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000997</a>
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<p>In an infant with type I GM1-gangliosidosis with cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#22" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E. <strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong> Hum. Mutat. 15: 354-366, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737981">Morrone et al. (2000)</a> identified a homozygous 1771T-A transversion in exon 16 of the GLB1 gene, resulting in a tyr591-to-asn (Y591N) substitution, in a region common to the lysosomal enzyme and the EPB. The child had dilated cardiomyopathy and aortic stenosis. An affected fetus had the same mutation. The family was from Campania in southern Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737981" 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>.0026 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</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> rs72555371 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72555371;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/rs72555371?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=rs72555371" 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=rs72555371" 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=RCV000000998 OR RCV000673090 OR RCV003764505" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000998, RCV000673090, RCV003764505" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000998...</a>
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<p>In 2 male twins with type I GM1-gangliosidosis with cardiac involvement (see <a href="/entry/230500">230500</a>), <a href="#22" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E. <strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong> Hum. Mutat. 15: 354-366, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737981">Morrone et al. (2000)</a> identified a homozygous 1772A-G transition in exon 16 of the GLB1 gene, resulting in a tyr591-to-cys (Y591C) substitution in a region common to the lysosomal enzyme and the EPB. Both had right intraventricular conduction delay. The family was from Apulia in southern Italy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737981" 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>.0027 MUCOPOLYSACCHARIDOSIS, TYPE IVB</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">rs2125591484 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2125591484;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=rs2125591484" 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=rs2125591484" 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=RCV001391310" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001391310" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001391310</a>
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<p>In a patient (patient 1) with mucopolysaccharidosis type IVB (MPS4B; <a href="/entry/253010">253010</a>), <a href="#6" class="mim-tip-reference" title="Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. <strong>Morquio B disease: from pathophysiology towards diagnosis.</strong> Molec. Genet. Metab. 132: 180-188, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33558080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33558080</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33558080">Caciotti et al. (2021)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene: a splicing mutation (c.75+2T-G) predicted to interrupt a canonical splice donor site, and a c.2030T-G transversion predicted to result in a val677-to-gly (V677G; <a href="#0028">611458.0028</a>) substitution in the C-terminal region. The mutations were identified by Sanger sequencing of the GLB1 gene. The V677G mutation was reported in 2 of 249,468 alleles in only heterozygous state in the gnomAD database. Western blot analysis in patient lymphocytes showed increased expression of both GLB1 and EBP proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33558080" 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> rs767685019 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs767685019;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/rs767685019?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=rs767685019" 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=rs767685019" 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=RCV001244248 OR RCV001391311" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001244248, RCV001391311" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001244248...</a>
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<p>For discussion of the c.2030T-G transversion in the GLB1 gene, predicted to result in a val677-to-gly (V677G) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB (MPS4B; <a href="/entry/253010">253010</a>) by <a href="#6" class="mim-tip-reference" title="Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. <strong>Morquio B disease: from pathophysiology towards diagnosis.</strong> Molec. Genet. Metab. 132: 180-188, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33558080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33558080</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33558080">Caciotti et al. (2021)</a>, see <a href="#0027">611458.0027</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33558080" 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> rs375582374 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375582374;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/rs375582374?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=rs375582374" 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=rs375582374" 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=RCV001730468 OR RCV004798916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001730468, RCV004798916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001730468...</a>
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<p>In a 5-year-old Emirati boy, born to consanguineous parents, with the infantile form of GM1-gangliosidosis (GM1G1; <a href="/entry/230500">230500</a>), <a href="#20" class="mim-tip-reference" title="Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R. <strong>The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.</strong> Hum. Genet. 139: 657-673, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32219518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32219518</a>] [<a href="https://doi.org/10.1007/s00439-020-02153-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32219518">Mohamed et al. (2020)</a> identified homozygosity for a c.451G-T transversion in exon 4 of the GLB1 gene, resulting in an asp151-to-tyr (D151Y) substitution at a conserved residue. The mutation was identified by Sanger sequencing of the GLB1 gene. Protein modeling predicted that the mutation affected overall protein secondary structure. Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the ER. Further studies in patient fibroblasts demonstrated that ER trapping of the mutant protein did not trigger an unfolded protein response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32219518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Alroy1985" class="mim-tip-reference" title="Alroy, J., Orgad, U., Ucci, A. A., Schelling, S. H., Schunk, K. L., Warren, C. D., Raghavan, S. S., Kolodny, E. H. <strong>Neurovisceral and skeletal G(M1)-gangliosidosis in dogs with beta-galactosidase deficiency.</strong> Science 229: 470-472, 1985.">Alroy et al. (1985)</a>; <a href="#Baker1971" class="mim-tip-reference" title="Baker, H. J., Jr., Lindsey, J. R., McKhann, G. M., Farrell, D. F. <strong>Neuronal Gm(1) gangliosidosis in a Siamese cat with beta-galactosidase deficiency.</strong> Science 174: 838-839, 1971.">Baker et al. (1971)</a>; <a href="#Rittmann1980" class="mim-tip-reference" title="Rittmann, L. S., Tennant, L. L., O'Brien, J. S. <strong>Dog Gm(1) gangliosidosis: characterization of the residual liver acid beta-galactosidase.</strong> Am. J. Hum. Genet. 32: 880-889, 1980.">Rittmann et al. (1980)</a>; <a href="#Shows1978" class="mim-tip-reference" title="Shows, T. B., Scrafford-Wolff, L. R., Brown, J. A., Meisler, M. H. <strong>GM1-gangliosidosis: assignment of the beta-galactosidase-A gene to chromosome 3. (Abstract)</strong> Am. J. Hum. Genet. 30: 134A, 1978.">Shows et al. (1978)</a>; <a href="#Wenger1980" class="mim-tip-reference" title="Wenger, D. A., Sattler, M., Mueller, O. T., Myers, G. G., Schneiman, R. S., Nixon, G. W. <strong>Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.</strong> Clin. Genet. 17: 323-334, 1980.">Wenger et al. (1980)</a>
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<strong>Neurovisceral and skeletal G(M1)-gangliosidosis in dogs with beta-galactosidase deficiency.</strong>
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Science 229: 470-472, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3925555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3925555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3925555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Neuronal Gm(1) gangliosidosis in a Siamese cat with beta-galactosidase deficiency.</strong>
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Science 174: 838-839, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5120520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5120520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5120520" 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/10.1126/science.174.4011.838" target="_blank">Full Text</a>]
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Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others.
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<strong>Recurrent and novel GLB1 mutations in India.</strong>
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Gene 567: 173-181, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25936995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25936995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25936995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2511208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2511208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2511208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong>
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L" target="_blank">Full Text</a>]
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<strong>Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.</strong>
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[<a href="https://doi.org/10.1002/humu.1380030205" target="_blank">Full Text</a>]
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Mosna, G., Fattore, S., Tubiello, G., Brocca, S., Trubia, M., Gianazza, E., Gatti, R., Danesino, C., Minelli, A., Piantanida, M.
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<strong>A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.</strong>
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[<a href="https://doi.org/10.1007/BF00220071" target="_blank">Full Text</a>]
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Naylor, S. L., Elliott, R. W., Brown, J. A., Shows, T. B.
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<strong>Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes.</strong>
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<strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03581.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(88)80038-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03672.x" target="_blank">Full Text</a>]
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<strong>Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.</strong>
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[<a href="https://doi.org/10.1007/s004390100570" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.273.11.6319" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00484498" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.molcel.2009.10.021" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00767.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000130940" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
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<a id="Shows1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shows, T. B., Scrafford-Wolff, L. R., Brown, J. A., Meisler, M. H.
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<strong>GM1-gangliosidosis: assignment of the beta-galactosidase-A gene to chromosome 3. (Abstract)</strong>
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Am. J. Hum. Genet. 30: 134A, 1978.
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<div class="">
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<p class="mim-text-font">
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Shows, T. B., Scrafford-Wolff, L. R., Brown, J. A., Meisler, M. H.
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<strong>Gm(1)-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GAL-A).</strong>
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Somat. Cell Genet. 5: 147-158, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/113895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">113895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=113895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01539157" target="_blank">Full Text</a>]
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<a id="Sips1985" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sips, H. J., de Wit-Verbeek, H. A., de Wit, J., Westerveld, A., Galjaard, H.
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<strong>The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.</strong>
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Hum. Genet. 69: 340-344, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3921454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3921454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3921454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00291653" target="_blank">Full Text</a>]
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<a id="Skelly1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Skelly, B. J., Jeffrey, M., Franklin, R. J. M., Winchester, B. G.
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<strong>A new form of ovine GM1-gangliosidosis.</strong>
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Acta Neuropath. 89: 374-379, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7610770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00309632" target="_blank">Full Text</a>]
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<a id="Suzuki1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suzuki, Y., Oshima, A.
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<strong>A beta-galactosidase gene mutation identified in both Morquio B disease and infantile G(M1) gangliosidosis. (Letter)</strong>
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Hum. Genet. 91: 407, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8500799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8500799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8500799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00217370" target="_blank">Full Text</a>]
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<a id="Takano1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takano, T., Yamanouchi, Y.
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<strong>Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.</strong>
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Hum. Genet. 92: 403-404, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01247344" target="_blank">Full Text</a>]
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<a id="Tohyama2000" class="mim-anchor"></a>
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<div class="">
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Tohyama, J., Vanier, M. T., Suzuki, K., Ezoe, T., Matsuda, J., Suzuki, K.
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<strong>Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).</strong>
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Hum. Molec. Genet. 9: 1699-1707, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.11.1699" target="_blank">Full Text</a>]
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<a id="46" class="mim-anchor"></a>
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<a id="Urban2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Urban, Z., Boyd, C. D.
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<strong>Elastic-fiber pathologies: primary defects in assembly--and secondary disorders in transport and delivery. (Editorial)</strong>
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Am. J. Hum. Genet. 67: 4-7, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841812</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10841812" 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/10.1086/302987" target="_blank">Full Text</a>]
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<a id="47" class="mim-anchor"></a>
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<a id="Wang2000" class="mim-anchor"></a>
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<div class="">
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Wang, Z. H., Zeng, B., Shibuya, H., Johnson, G. S., Alroy, J., Pastores, G. M., Raghavan, S., Kolodny, E. H.
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<strong>Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.</strong>
|
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J. Inherit. Metab. Dis. 23: 593-606, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032334" 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/10.1023/a:1005630013448" target="_blank">Full Text</a>]
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<a id="48" class="mim-anchor"></a>
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<a id="Wenger1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wenger, D. A., Sattler, M., Mueller, O. T., Myers, G. G., Schneiman, R. S., Nixon, G. W.
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<strong>Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.</strong>
|
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Clin. Genet. 17: 323-334, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6777095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00158.x" target="_blank">Full Text</a>]
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<a id="49" class="mim-anchor"></a>
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<a id="Yoshida1992" class="mim-anchor"></a>
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<div class="">
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Yoshida, K., Oshima, A., Sakuraba, H., Nakano, T., Yanagisawa, N., Inui, K., Okada, S., Uyama, E., Namba, R., Kondo, K., Iwasaki, S., Takamiya, K., Suzuki, Y.
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<strong>GM1 Gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.</strong>
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Ann. Neurol. 31: 328-332, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410310316" target="_blank">Full Text</a>]
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<a id="50" class="mim-anchor"></a>
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<a id="Yoshida1991" class="mim-anchor"></a>
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<div class="">
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Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y.
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<strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong>
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Am. J. Hum. Genet. 49: 435-442, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/14/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 05/21/2021<br>Hilary J. Vernon - updated : 05/11/2021<br>Cassandra L. Kniffin - updated : 9/21/2010<br>Cassandra L. Kniffin - updated : 10/25/2007
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Creation Date:
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<span class="mim-text-font">
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Cassandra L. Kniffin : 9/21/2007
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carol : 11/09/2021
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carol : 10/14/2021<br>carol : 05/21/2021<br>carol : 05/12/2021<br>carol : 05/11/2021<br>carol : 05/05/2021<br>carol : 05/04/2021<br>alopez : 05/14/2019<br>carol : 02/12/2014<br>mcolton : 2/12/2014<br>carol : 2/12/2014<br>carol : 9/12/2013<br>carol : 5/17/2011<br>carol : 2/3/2011<br>wwang : 1/10/2011<br>wwang : 9/29/2010<br>ckniffin : 9/21/2010<br>carol : 11/4/2009<br>wwang : 10/26/2007<br>ckniffin : 10/25/2007<br>carol : 10/2/2007<br>carol : 10/1/2007<br>ckniffin : 9/27/2007
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<strong>*</strong> 611458
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<span class="mim-font">
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GALACTOSIDASE, BETA-1; GLB1
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<em>Alternative titles; symbols</em>
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BETA-GALACTOSIDASE-1
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Other entities represented in this entry:
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<span class="h3 mim-font">
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ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED
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S-GAL, INCLUDED<br />
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ELASTIN RECEPTOR 1, INCLUDED
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GLB1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 18756002, 238026007, 238027003, 238044004;
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<strong>ICD10CM:</strong> E76.211;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3p22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:32,961,108-33,097,146 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="4">
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<span class="mim-font">
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3p22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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GM1-gangliosidosis, type I
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</span>
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</td>
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<td>
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<span class="mim-font">
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230500
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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GM1-gangliosidosis, type II
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</span>
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</td>
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<td>
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<span class="mim-font">
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230600
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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GM1-gangliosidosis, type III
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</span>
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</td>
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<td>
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<span class="mim-font">
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230650
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Mucopolysaccharidosis type IVB (Morquio)
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</span>
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</td>
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<td>
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<span class="mim-font">
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253010
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The GLB1 gene encodes beta-galactosidase-1 (EC 3.2.1.23), a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates (Yoshida et al., 1991). Beta-galactosidase also occurs in a complex with neuraminidase (NEU1; 608272) and protective protein/cathepsin A (CTSA; 613111), which is a component of certain cell surface receptors (Hinek, 1996). </p><p>See also galactosylceramidase (GALC; 606890) (EC 3.2.1.46), a genetically distinct beta-galactosidase that is involved in the catabolism of other lipid compounds.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Oshima et al. (1988) isolated a cDNA corresponding to the GLB1 gene from a human placenta cDNA library. The deduced 677-residue protein has a calculated molecular mass of 75 kD and contains a putative 23-residue signal sequence and 7 potential asparagine-linked glycosylation sites. </p><p>Morreau et al. (1989) showed that the GLB1 gene gives rise to 2 alternatively spliced mRNAs: a major 2.5-kb transcript that encodes the classic lysosomal form of the enzyme of 677 amino acids, and a minor 2.0-kb transcript that encodes a beta-galactosidase-related protein (S-Gal) of 546 amino acids with no enzymatic activity and a different subcellular localization. Exons 3, 4, and 6 are deleted in the 2.0-kb mRNA because of alternative splicing of the pre-mRNA. The only difference between the 2 proteins resides in a stretch of 32 amino acids that is encoded by a different reading frame of exon 5. </p><p>Hinek (1996) and Privitera et al. (1998) found that the short beta-galactosidase-related protein of 67 kD (S-Gal) was identical to the elastin-binding protein (EBP), a major component of the nonintegrin cell surface receptor complex expressed in fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. EBP, which is localized in the endosomal compartment, binds tropoelastin (see 130160) intracellularly and functions as a molecular chaperone facilitating the secretions of tropoelastin and its assembly into elastic fibers. EBP is not a transmembrane protein, but immobilizes on the cell surface by an association with neuraminidase and PPCA. EBP binds to matrix ligands only in the absence of galactosugars, because binding of carbohydrate moieties results in a conformational change that releases the protein from the cell surface. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The GLB1 gene spans 62.5 kb and contains 16 exons (Oshima et al., 1988; Santamaria et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybridization, Shows et al. (1978) and Shows et al. (1979) localized the beta-galactosidase gene to chromosome 3. The authors used a species-specific antiserum to human liver beta-galactosidase with an acid pH optimum to determine the chromosome assignment in man-mouse somatic cell hybrids. </p><p>Sips et al. (1985) concluded that the structural gene for beta-galactosidase maps to chromosome 3. Takano and Yamanouchi (1993) used fluorescence in situ hybridization to assign the gene to 3p21.33. </p><p>By studying recombinant inbred strains of mice, Naylor et al. (1982) found that aminoacylase-1 (ACY1; 104620) and GLB1 are 10.7 map units apart on mouse chromosome 9. Since transferrin (TF; 190000) is closely linked to these 2 loci in the mouse, they suggested that the human transferrin gene is also on chromosome 3, which is known to carry ACY1 and GLB1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>GM1-Gangliosidosis</em></strong></p><p>
|
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Yoshida et al. (1991) and Nishimoto et al. (1991) independently identified mutations in the GLB1 gene in Japanese patients with various forms of GM1-gangliosidosis. Those with the infantile form (GM1G1; 230500) had specific mutations (611458.0001; 611458.0002; 611458.0005-611458.0007). Residual enzyme activity in these patients ranged from 0.65 to 1.58% of control values (Yoshida et al., 1991). Those with the late infantile/juvenile form (GM1G2; 230600) had a different mutation (R201C; 611458.0003) with residual enzyme activity ranging from 2.65 to 3.05% of control values. Those with the adult/chronic form (GM1G3; 230650) again had different mutations (611458.0004; 611458.0008) with residual enzyme activity ranging from 4.24 to 7.28% of control values. The findings indicated an inverse correlation between disease severity and residual enzyme activity. </p><p>In a patient with late-infantile GM1-gangliosidosis, Caciotti et al. (2003) identified compound heterozygosity for 2 mutations in the GLB1 gene (611458.0003; 611458.0022). </p><p>In several Italian patients with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified homozygous mutations in the GLB1 gene (611458.0023-611458.0026). All of these mutations were located in the GLB1 region common to the lysosomal protein and the EBP and were shown to impair elastogenesis (Hinek et al., 2000). </p><p>Santamaria et al. (2007) identified 22 different GLB1 mutations, including 14 novel mutations, in 19 unrelated patients with GM1-gangliosidosis from south America, mainly Argentina. The vast majority had the type I phenotype. R59H (611458.0023) was the most common mutation, accounting for 15.8% (6 of 38) mutant alleles. Two unrelated patients of Gypsy origin were homozygous for this mutation. </p><p>Bidchol et al. (2015) reported molecular findings in 46 Indian patients with GM1-gangliosidosis and 2 pairs of Asian Indian parents who had carrier testing for GM1. Thirty-three different mutations in the GLB1 gene were identified; 20 of the mutations were novel, including 12 missense, 4 splicing, 3 indels, and 1 nonsense. The most common mutations were c.75+2insT (14% of alleles) and L337P (10% of alleles). None of the novel mutations were observed in the dbSNP or 1000 Genomes Project databases. Forty-one of the patients had homozygous mutations, 25 of whom were born to consanguineous parents. Thirty-two of the patients had GM1-gangliosidosis type I, 13 had GM1-gangliosidosis type II, and 1 had GM1-gangliosidosis type III. No genotype-phenotype correlation was observed. </p><p>In a 5-year-old Emirati boy, born to consanguineous parents, with GM1-gangliosidosis type I, Mohamed et al. (2020) identified a homozygous mutation in the GLB1 gene (D151Y; 611458.0029). Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the endoplasmic reticulum (ER). Enzyme function in the fibroblasts was partially rescued by the presence of glycerol, which acts as a chemical chaperone to rescue misfolded proteins retained in the ER, or reduced temperature, which assists with conformational rescue of misfolded proteins. </p><p><strong><em>Pseudodeficiency Alleles</em></strong></p><p>
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|
'Pseudodeficient enzyme activity' refers to situations in which individuals show greatly reduced enzyme activity without pathologic or clinical features. Proper identification of these variants is important for accurate genetic counseling. Gort et al. (2007) found that a clinically unaffected father of a patient with GM1-gangliosidosis had decreased GLB1 enzyme activity. Genetic analysis showed that he was compound heterozygous for a truncating mutation, found in his affected child, and an arg595-to-trp (R595W) substitution, which was not found in his affected child. Functional expression analysis showed that the R595W-mutant protein had 33 to 59% residual activity. The family originated from the Basque country of Spain. The R595W polymorphism was detected in 3.2% of Basque controls and 0.8% of non-Basque controls. </p><p><strong><em>Mucopolysaccharidosis Type IVB (Morquio Syndrome B)</em></strong></p><p>
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In 3 affected individuals from 2 unrelated families with mucopolysaccharidosis type IVB (MPS4B; 253010), Oshima et al. (1991) identified compound heterozygosity for 2 mutations in the GLB1 gene (611458.0009-611458.0011). </p><p>Paschke et al. (2001) performed mutation analyses of the GLB1 gene in 17 juvenile and adult patients from various European regions with acid beta-galactosidase deficiency and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and had remained neurologically healthy, whereas the other 2 exhibited psychomotor retardation of juvenile onset. The W273L mutation (611458.0009) was present in 14 of the 15 Morquio B patients. The Morquio phenotype was also expressed in compound heterozygotes for W273L and alleles typically found in GM1-gangliosidosis. One French patient with Morquio B syndrome was compound heterozygous for 2 mutations (Q408P; 611458.0021 and T500A; 611458.0020). </p><p>Caciotti et al. (2021) reported the GLB1 mutations in 9 patients, including 2 sib pairs, with MPS IVB. The mutations were identified by Sanger sequencing of the gene. Heterozygosity for the W273L (611458.0009) mutation was identified in 7 patients. Three novel mutations were identified, including a splicing mutation (611458.0027) and 2 missense mutations, V677G (611458.0028) and Y192C. In 1 patient (patient 7), only a single mutation (W273L) was identified; however, a potential splicing defect excluding exons 2-7 was identified in this patient, leading Caciotti et al. (2021) to hypothesize that a deep intronic mutation was also present. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hinek et al. (2000) performed functional expression studies on several GLB1 mutations resulting in Morquio B disease (see, e.g., G438E, 611458.0018, T500A, W273L, and R482H, 611458.0010). All mutations were located in the coding region common to the lysosomal enzyme and the S-Gal/EBP protein, and none of the mutant proteins expressed EBP. In addition, studies of nonsense mutations in GM1-gangliosidosis with cardiac involvement (see, e.g., R351X, 611458.0019) that resulted in impairment of both protein regions also showed no EPB expression. Functional studies indicated that the Morquio syndrome B mutant and the cardiac involvement mutants showed impaired secretion of tropoelastin and did not assemble elastic fibers, resulting in impaired elastogenesis. In these mutants, coculturing with Chinese hamster ovary cells transfected with S-Gal cDNA resulted in improved deposition of elastic fibers. In contrast, cells from patients with missense mutations resulting in lysosomal beta-galactosidase deficiency, but not in S-Gal deficiency, assembled normal elastic fibers. The study validated functional roles of S-Gal in elastogenesis and elucidated an association between impaired elastogenesis and the development of connective tissue disorders in patients with Morquio B disease and in patients with infantile GM1-gangliosidosis with cardiac involvement. Thus, these disorders could be considered a 'secondary elastinopathy' (Urban and Boyd, 2000). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>O'Brien et al. (1990) performed allogeneic bone marrow transplantation early in life in a case of canine GM1-gangliosidosis. Despite successful engraftment, no benefit was found. </p><p>Prieur et al. (1991) described GM1-gangliosidosis in sheep in which deficiency of beta-galactosidase was coupled with a deficiency of alpha-neuraminidase. Skelly et al. (1995) described a new form of ovine GM1-gangliosidosis in which there was a specific deficiency of lysosomal beta-D-galactosidase only. </p><p>Hahn et al. (1997) generated a mouse model lacking a functional beta-galactosidase gene by homologous recombination and embryonic stem cell technology. Tissues from affected mice were devoid of beta-galactosidase mRNA and totally deficient in GM1-ganglioside-hydrolyzing capacity. Storage material was already conspicuous in the brain at 3 weeks. By 5 weeks, extensive storage of periodic acid Schiff-positive material was observed in neurons throughout the brain and spinal cord. Consistent with the neuropathology, abnormal accumulations of GM1-ganglioside in the brain progressed from twice to almost 5 times the normal amount during the period from 3 weeks to 3.5 months. Despite accumulation of brain GM1-ganglioside at the level equal to or exceeding that seen in gravely ill human patients, these mice showed no overt clinical phenotype up to 4 to 5 months. However, tremor, ataxia, and abnormal gait became apparent in older mice. </p><p>Tohyama et al. (2000) crossbred 'twitcher' mice (galactosylceramidase deficiency; 245200) with Glb1 knockout mice and found that the acid beta-galactosidase gene dosage exerted an unexpected and paradoxical influence on the twitcher phenotype. Twitcher mice with an additional complete deficiency of Glb1 (Galc-/-, Glb1-/-) had the mildest phenotype among twitcher mice of all genotypes, with the longest life span and nearly rescued central nervous system pathology. In contrast, twitcher mice with a single functional acid beta-galactosidase gene (Galc-/-, Glb1+/-) had the most severe disease, with the shortest life span and brain levels of psychosine even higher than those of twitcher mice. The double knockout mice showed a massive accumulation of lactosylceramide in all tissues as expected, but only a half-normal amount of galactosylceramide in brain. The authors hypothesized that the acid beta-galactosidase gene may function as a modifier gene for the phenotypic expression of galactosylceramidase deficiency. </p><p>Portuguese water dogs have a naturally occurring GM1-gangliosidosis that resembles the human disease genetically, clinically, biochemically, and pathologically. It is similar to human infantile and juvenile forms of the disorder. Wang et al. (2000) isolated and sequenced the beta-galactosidase cDNA in Portuguese water dogs. The gene encodes a deduced protein of 668 amino acids. Its coding sequence is 86.5% identical at the nucleotide level and 81% identical at the amino acid level to human acid beta-galactosidase. A homozygous recessive mutation, 200G-A (R60H), was found to cause canine GM1-gangliosidosis. The mutation created a new restriction enzyme site for Pml1. </p><p>Fan et al. (1999) proposed a molecular therapeutic strategy for Fabry disease (301500) in which competitive inhibitors are administered as 'chemical chaperones' at subinhibitory intracellular concentrations. Using a similar approach, Matsuda et al. (2003) synthesized a galactose derivative, N-octyl-4-epi-valienamine (NOEV), for a molecular therapy of beta-galactosidosis. They showed that NOEV is a potent inhibitor of lysosomal beta-galactosidase in vitro. Addition of the inhibitor in the culture medium restored mutant enzyme activity in cultured human or murine fibroblasts at low intracellular concentrations, resulting in a marked decrease of intracellular substrate storage. Short-term oral administration of NOEV to a mouse model of juvenile GM1-gangliosidosis, expressing the human R201C (611458.0003) mutant enzyme protein, resulted in significant enhancement of the enzyme activity in the brain and other tissues. Immunohistochemical stain revealed a decrease in the amount of GM1 and GA1 in neuronal cells in the frontotemporal cerebral cortex and brainstem. Matsuda et al. (2003) concluded that chemical chaperone therapy may be useful for certain patients with beta-galactosidosis and potentially other lysosomal storage diseases with central nervous system involvement. </p><p>In the mouse brain, Sano et al. (2009) demonstrated that Glb1 is a normal constituent of mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), which define the sites of ER/mitochondrial juxtaposition that control calcium influx between these organelles. Brains of Glb1-null mice showed GM1 accumulation in glycosphingolipid fractions of these membranes, and was associated with increased levels of phosphorylated Ip3r1 (ITPR1; 147265), a calcium channel. These findings were also associated with altered mitochondrial calcium homeostasis: increased calcium levels in mitochondria resulted in mitochondrial membrane permeabilization, opening of the permeability transition pore, and activation of the mitochondrial apoptotic pathway. These effects could be reversed with a calcium blocker. Sano et al. (2009) concluded that pathologic GM1 accumulation alters the normal crosstalk between ER and mitochondria, promoting the formation of a calcium-channel megapore that results in an ER stress response and a disruption in mitochondrial homeostasis, ultimately causing neuronal cell death. The findings also pointed to a role for GM1 in the regulation of calcium influx between the ER and mitochondria. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>De Wit et al. (1977) and de Wit et al. (1979) concluded that a beta-galactosidase locus was on chromosome 22 (22q13-qter). This locus was designated beta-galactosidase-2 (GLB2), but subsequent studies showed that 'the second beta-galactosidase locus' codes for a lysosomal protective protein (CTSA; 613111) for both beta-galactosidase and neuraminidase and is situated on chromosome 20, not 22. </p><p>By study of mouse-man somatic hybrid cells, Rushton and Dawson (1977) concluded that all the glycosphingolipid beta-galactosidases are on chromosome 12, but the authors could not answer the question of the number of separate beta-galactosidases. However, de Wit et al. (1979) found no evidence of a GLB1 locus on chromosome 12. </p><p>In a case of de novo interstitial deletion of 3p14.2-p11, Hertz et al. (1988) found normal levels of beta-galactosidase-1, thus excluding this region as the site of the gene. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<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>29 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 GM1-GANGLIOSIDOSIS, TYPE I</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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GLB1, ARG49CYS
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<br />
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SNP: rs72555358,
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gnomAD: rs72555358,
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ClinVar: RCV000000971, RCV000175599, RCV000672371, RCV000707313, RCV001778644
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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 Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Nishimoto et al. (1991) identified a 145C-T transition in the GLB1 gene, resulting in an arg49-to-cys (R49C) substitution. A putative second mutant allele was not identified. GLB1 mRNA was decreased, but detectable. </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 GM1-GANGLIOSIDOSIS, TYPE I</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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GLB1, ARG457TER
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<br />
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SNP: rs72555359,
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gnomAD: rs72555359,
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ClinVar: RCV000000972, RCV000667074, RCV001058421, RCV001174734, RCV001781153, RCV005208117
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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 Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Nishimoto et al. (1991) identified a homozygous 1369C-T transition in the GLB1 gene, resulting in an arg457-to-ter (R457X) substitution. GLB1 mRNA was undetectable. </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 GM1-GANGLIOSIDOSIS, TYPE 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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GLB1, ARG201CYS
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<br />
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SNP: rs72555360,
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gnomAD: rs72555360,
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ClinVar: RCV000000973, RCV000256168, RCV000269582, RCV000410436, RCV000411359, RCV000411949, RCV001208622, RCV004737133, RCV005024979
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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 4 Japanese patients with the juvenile form of GM1-gangliosidosis (GM1G2; 230600), Nishimoto et al. (1991) identified a 601C-T transition in exon 6 of the GLB1 gene, resulting in an arg201-to-cys (R201C) substitution. One patient was homozygous for the mutation; the second mutant allele could not be identified in the 3 remaining patients. All had detectable GLB1 mRNA. </p><p>Yoshida et al. (1991) identified a heterozygous R201C mutation in a Japanese patient with the late infantile form of GM1-gangliosidosis (see 230600). Yoshida et al. (1991) stated that the nucleotide change was 635C-T. A second mutant GLB1 allele was not identified. Beta-galactosidase activity was 3% of normal controls. </p><p>Caciotti et al. (2003) found that the R201C mutant enzyme had 12.9% residual activity, but that activity was decreased to 3.8% when combined with an in cis L436F polymorphism, indicating that the polymorphism could modulate enzyme 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>.0004 GM1-GANGLIOSIDOSIS, TYPE III</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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|
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GLB1, ILE51THR
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<br />
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|
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SNP: rs72555390,
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ClinVar: RCV000000974, RCV000671053, RCV001582457, RCV001851520, RCV004799723
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|
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</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis (GM1G3; 230650), Nishimoto et al. (1991) identified a 152T-C transition in the GLB1 gene, resulting in an ile51-to-thr (I51T) substitution. </p><p>Yoshida et al. (1991, 1992) found the I51T mutation in Japanese patients with adult GM1-gangliosidosis. The authors stated that the nucleotide change was 186T-C. All patients except 1 were homozygotes. One patient was a compound heterozygote with an R457Q mutation (611458.0008). Clinically, the compound heterozygous patient showed more severe neurologic manifestations and a more rapid clinical course than did the homozygotes. The I51T allele showed 5.28 to 7.28% residual enzyme activity, whereas the compound heterozygous patient had 4.24% residual activity. The mutations causing residual enzyme activity appeared to be related to severity of clinical manifestations, but other genetic or environmental factors likely also contributed to the phenotype since there was considerable variation in age of onset and clinical course among I51T homozygotes. </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>.0005 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, 165-BP DUP
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|
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|
|
<br />
|
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|
|
|
|
ClinVar: RCV000000975
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Japanese patients with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Yoshida et al. (1991) found a 165-bp duplication (positions 1103-1267), producing an abnormally large mRNA. One patient was probably homozygous and the other heterozygous. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, GLY123ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28934274,
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|
|
|
|
|
gnomAD: rs28934274,
|
|
|
|
|
|
ClinVar: RCV000000976, RCV000196532, RCV000428850, RCV001217770, RCV004799724
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Yoshida et al. (1991) found a 401G-A transition in the GLB1 gene, resulting in a gly123-to-arg (G123R) substitution. The patient had 0.65% residual enzyme activity. A second mutant allele was not identified. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, TYR316CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555361,
|
|
|
|
|
|
gnomAD: rs72555361,
|
|
|
|
|
|
ClinVar: RCV000000977, RCV000673295
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Yoshida et al. (1991) identified a 981A-G transition in the GLB1 gene, resulting in a tyr316-to-cys (Y316C) substitution. The patient had 0.69% residual enzyme activity. A second mutant allele was not identified. In the same patient, Oshima et al. (1992) identified the second mutant GLB1 allele, a 23-bp duplication in exon 3 (611458.0012). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GM1-GANGLIOSIDOSIS, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG457GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28934886,
|
|
|
|
|
|
gnomAD: rs28934886,
|
|
|
|
|
|
ClinVar: RCV000000978, RCV001378633, RCV001810396, RCV002281684
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with the adult/chronic form of GM1-gangliosidosis (GM1G3; 230650), Yoshida et al. (1991) identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1404G-A transition resulting in an arg457-to-gln (R457Q) substitution, and I51T (611458.0004). Beta-galactosidase activity was 4.24% of normal controls in patient lymphoblasts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, TRP273LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555362,
|
|
|
|
|
|
gnomAD: rs72555362,
|
|
|
|
|
|
ClinVar: RCV000000979, RCV004566665
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected individuals from 2 unrelated families with Morquio syndrome B (MPS4B; 253010), also known as mucopolysaccharidosis type IVB, Oshima et al. (1991) identified compound heterozygosity for 2 mutations in the GLB1 gene. All patients shared a heterozygous 851-852TG-CT change, resulting in a trp273-to-leu (W273L) substitution, and another pathogenic change (R482H, 611458.0010 and W509C, 611458.0011, respectively). The W273L mutant showed 8% residual enzyme activity. The R482H mutant and W509C mutants had no residual enzyme activity. </p><p>Paschke et al. (2001) identified the W273L mutation in 14 of 15 Morquio syndrome B patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG482HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555391,
|
|
|
|
|
|
gnomAD: rs72555391,
|
|
|
|
|
|
ClinVar: RCV000000981, RCV000119099, RCV000174679, RCV000586055, RCV001034863, RCV002476905
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1479G-A transition in the GLB1 gene, resulting in an arg482-to-his (R482H) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis syndrome IVB (MPS4B; 253010) by Oshima et al. (1991), see 611458.0009. transition in the GLB1 gene. </p><p>Studying several Italian patients with infantile GM1-gangliosidosis (GM1G1; 230500), Mosna et al. (1992) found 1 patient who was homozygous for the R482H substitution. The R482H mutation was found in the heterozygous state in 6 other unrelated patients with the severe form of GM1-gangliosidosis, but not in 100 normal chromosomes. Thus, depending on the allele with which it is paired, the R482H substitution can result in either severe or relatively mild disease. </p><p>Suzuki and Oshima (1993) likewise emphasized the occurrence of wide variation in the clinical phenotype observed with the R482H mutation depending on the nature of the second allele with which it is paired. It may lead to juvenile (230600) or chronic/adult (230650) GM1-gangliosidosis or intermediate types between infantile GM1-gangliosidosis and Morquio syndrome type B. They suggested the designation 'beta-galactosidosis' for this group of diseases with mutations of the GLB1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, TRP509CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555363,
|
|
|
|
|
|
|
|
ClinVar: RCV000000982, RCV003764504
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1561G-T transversion in the GLB1 gene, resulting in a trp509-to-cys (W509C) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB by Oshima et al. (1991), see 611458.0009. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
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</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, 23-BP DUP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776524,
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|
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|
|
|
|
ClinVar: RCV000000983
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old boy with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Oshima et al. (1992) found compound heterozygosity for 2 mutations in the GLB1 gene: a 23-bp duplication in exon 3 and Y316C (611458.0007). The duplication resulted in a premature stop codon after translation of 36 amino acids. Homologous sequences in the area of duplication suggested that the mutation resulted from an unequal crossover. The boy had hepatomegaly and liver dysfunction at 6 months of age. Cherry-red spots were found bilaterally at the age of 1 year and the diagnosis of GM1-gangliosidosis was made. He deteriorated to a state of decerebrate rigidity by the age of 5 years. The patient had previously been reported by Yoshida et al. (1991). </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>.0013 GM1-GANGLIOSIDOSIS, TYPE III</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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GLB1, THR82MET
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<br />
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SNP: rs72555393,
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|
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gnomAD: rs72555393,
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ClinVar: RCV000000984, RCV000624609, RCV000669063, RCV001068811, RCV001559063, RCV004546408
|
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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 affected members of 2 presumably unrelated families of Scandinavian origin with adult GM1-gangliosidosis (GM1G3; 230650), Chakraborty et al. (1994) identified a heterozygous 245C-T transition in the GLB1 gene, resulting in a thr82-to-met (T82M) substitution. Nucleotide 245 is part of a split codon that straddles the intron between exons 2 and 3. Functional expression studies showed that the mutant protein had 3 to 4% residual enzyme activity. The 245C-T transition was inherited from the father in both families. In 1 family, the other allele showed a splice site mutation (611458.0014) with no residual activity. Thus, the T82M substitution resulted in enough functional enzyme to produce a mild adult form of the disease, even in the presence of a second mutation that probably produced a nonfunctional enzyme. Chakraborty et al. (1994) speculated that homozygosity for the T82M mutation might present in late life with symptoms resembling those of basal ganglia disease, such as Parkinson disease, since Goldman et al. (1981) showed that in the adult form of GM1-gangliosidosis, storage is focal and confined mainly to basal ganglia. </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>.0014 GM1-GANGLIOSIDOSIS, TYPE I</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">
|
|
GM1-GANGLIOSIDOSIS, TYPE III, INCLUDED
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|
</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
GLB1, IVS1DS, 1-BP INS, +3
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|
<br />
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|
|
SNP: rs587776525,
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|
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|
|
ClinVar: RCV000000985, RCV000412989, RCV000781443, RCV000796145, RCV001376158, RCV003338377, RCV004975256
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|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 sibs affected by the severe infantile form of GM1-gangliosidosis (GM1G1; 230500), Morrone et al. (1994) identified homozygosity for a 1-bp insertion (insT) in the +3 position of intron 1 of the GLB1 gene immediately downstream of the conserved GT splice donor dinucleotide. The insertion resulted in 2 aberrant transcripts, 1 containing a 20-nucleotide insertion derived from the 5-prime end of intron 1 and a second in which sequences encoded by exon 2 were deleted during the splicing process. </p><p>Chakraborty et al. (1994) identified heterozygosity for the intron 1 insT mutation in 2 sibs with GM1-gangliosidosis. They were compound heterozygous for another GLB1 mutation that had residual enzyme activity, T82M (611458.0013), yielding a phenotype consistent with the adult form of the disorder (GM1G3; 230650). </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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GLB1, TYR83HIS
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|
<br />
|
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|
|
SNP: rs72555364,
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|
|
|
gnomAD: rs72555364,
|
|
|
|
|
|
ClinVar: RCV000000986
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurologic manifestations (MPS4B; 253010), Ishii et al. (1995) found compound heterozygosity for 2 mutations in the GLB1 gene: a tyr83-to-his (Y83H) substitution and R482C (611458.0016). The R482C mutant was found to express no detectable enzyme activity, whereas the Y83H expressed a low enzyme activity (2 to 5% of normal). </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>.0016 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG482CYS
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|
<br />
|
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|
|
SNP: rs72555365,
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|
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|
|
|
gnomAD: rs72555365,
|
|
|
|
|
|
ClinVar: RCV000119100, RCV000665872, RCV001376852
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg482-to-cys (R482C) mutation in the GLB1 gene that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB (MPS4B; 253010) by Ishii et al. (1995), see 611458.0015. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG208CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555366,
|
|
|
|
|
|
gnomAD: rs72555366,
|
|
|
|
|
|
ClinVar: RCV000000988, RCV000179306, RCV000586182, RCV000633470, RCV000984269, RCV000984270, RCV000984271, RCV002512629, RCV005024980
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Boustany et al. (1993) reported that 2 of 6 patients of Puerto Rican origin with infantile GM1-gangliosidosis (GM1G1; 230500) were homozygous for a 622C-T transition in the GLB1 gene, resulting in an arg208-to-cys (R208C) substitution. </p><p>In a subsequent analysis, Chiu et al. (1996) found that 3 of 4 additional patients with infantile GM1-gangliosidosis were of Puerto Rican ancestry. Of these, 2 were homozygotes for the R208C mutation, and another patient, also Puerto Rican, was a heterozygote. The authors hypothesized that this mutation arose in Puerto Rico and subsequently moved to South and North America. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, GLY438GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555367,
|
|
|
|
|
|
|
|
ClinVar: RCV000000989, RCV000850556, RCV001091796, RCV001382999, RCV001843450
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hinek et al. (2000) reported a patient with Morquio syndrome B (MPS4B; 253010) who had a homozygous gly438-to-glu (G438E) substitution in the GLB1 gene. The substitution is located in the coding region common to the lysosomal enzyme and the S-Gal/EBP protein, resulting in disruption of this splice variant. Fibroblasts derived from this patient showed impaired tropoelastin secretion and lack of assembly into extracellular insoluble elastin. The results suggested that cellular deficiency of S-Gal underlies the connective tissue and skeletal deformations characteristic of Morquio syndrome B. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG351TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555372,
|
|
|
|
|
|
gnomAD: rs72555372,
|
|
|
|
|
|
ClinVar: RCV000000990, RCV000665526, RCV000780302, RCV001223149, RCV001331201, RCV001642195, RCV002225254
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with infantile GM1-gangliosidosis and cardiac involvement (see 230500), Hinek et al. (2000) identified a mutation in the GLB1 gene, resulting in an arg351-to-ter (R351X) substitution. The mutant protein was associated with impaired elastogenesis due to destabilization of both beta-galactosidase and S-Gal mRNAs. Beta-galactosidase activity was less than 2% of control values. In addition to classic features of type I disease, the patient had cardiomegaly, congestive heart failure, left ventricular hypertrophy, and decreased contractility. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, THR500ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555368,
|
|
|
|
|
|
gnomAD: rs72555368,
|
|
|
|
|
|
ClinVar: RCV000000991, RCV000673423, RCV001040694, RCV001818116, RCV002281685, RCV003137481
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with the Morquio syndrome B phenotype (MPS4B; 253010), Paschke et al. (2001) identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1532A-C transversion resulting in a thr500-to-ala (T500A) substitution, and Q408P (611458.0021). The T500A mutation had been studied by Hinek et al. (2000). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 MUCOPOLYSACCHARIDOSIS, TYPE IVB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, GLN408PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555369,
|
|
|
|
|
|
|
|
ClinVar: RCV000000992, RCV000667601
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Morquio syndrome type B (MPS4B; 253010), Paschke et al. (2001) identified compound heterozygosity for 2 mutations in the GLB1 gene: a 1257A-G transition resulting in a gln408-to-pro (Q408P) substitution, and T500A (611458.0020). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 GM1-GANGLIOSIDOSIS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG68TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555370,
|
|
|
|
|
|
gnomAD: rs72555370,
|
|
|
|
|
|
ClinVar: RCV000000993, RCV000760159, RCV001235447, RCV004589492, RCV005031376
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with the late-infantile form of GM1-gangliosidosis (GM1G2; 230600) with onset at age 17 months, Caciotti et al. (2003) found compound heterozygosity for 2 mutations in the GLB1 gene. One allele was a complex allele consisting of the R201C substitution (611458.0003) and a leu436-to-phe (L436F) polymorphism in cis inherited from the mother, and the other allele had a 202C-T transition resulting in an arg68-to-trp (R68W) substitution inherited from the father. Biochemical studies showed 1.4% residual enzyme activity in the patient's leukocytes. Further studies showed that the R68W change rendered GLB1 enzymatically inactive and the R201C mutant gave 12.9% residual activity. However, the R201C and L436F allele had only 3.8% residual activity, indicating that the polymorphism could modulate enzyme activity. The child developed blindness and spasticity at age 3 years and died of renal failure at age 6.5 years. The clinical and molecular characterization of the disorder in this patient as late-infantile GM1-gangliosidosis was in keeping with a clear-cut division between 2 forms of the type II phenotype. The L436F polymorphism was thought to modify the effect of the R201C mutation in the direction of greater severity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, ARG59HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs72555392,
|
|
|
|
|
|
gnomAD: rs72555392,
|
|
|
|
|
|
ClinVar: RCV000000994, RCV000000995, RCV000059350, RCV000078708, RCV000175600, RCV000778693, RCV000811276, RCV000850557, RCV000984179, RCV004018531, RCV004545719
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs from northeast Italy with infantile GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 176G-A transition in exon 2 of the GLB1 gene, resulting in an arg59-to-his (R59H) substitution within the region common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patients showed dilated cardiomyopathy and hypertrophic cardiomyopathy, respectively . </p><p>Santamaria et al. (2007) identified the R59H mutation in 6 (15.8%) of 38 mutant GLB1 alleles in patients with GM1-gangliosidosis from South America, mainly Argentina. All had the type I phenotype (GM1G1; 230500). Two unrelated patients of Gypsy origin were homozygous for this mutation. Some, but apparently not all, had cardiac involvement. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLB1, IVS14AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776526,
|
|
|
|
|
|
gnomAD: rs587776526,
|
|
|
|
|
|
ClinVar: RCV000000996, RCV000790562, RCV001049270, RCV001251276, RCV002243610, RCV002470702, RCV002496221
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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 an infant with type I GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous A-to-G transition in intron 14 of the GLB1 gene, resulting in a frameshift and premature termination. The splice site occurs in a region that is common to the lysosomal enzyme and the EPB. In addition to classic type I symptoms, the patient showed dilated cardiomyopathy and a hypertrophied left ventricle. </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>.0025 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</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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|
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GLB1, TYR591ASN
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<br />
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|
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SNP: rs72555373,
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|
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gnomAD: rs72555373,
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ClinVar: RCV000000997
|
|
|
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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 an infant with type I GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 1771T-A transversion in exon 16 of the GLB1 gene, resulting in a tyr591-to-asn (Y591N) substitution, in a region common to the lysosomal enzyme and the EPB. The child had dilated cardiomyopathy and aortic stenosis. An affected fetus had the same mutation. The family was from Campania in southern Italy. </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>.0026 GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT</strong>
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|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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GLB1, TYR591CYS
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<br />
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SNP: rs72555371,
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gnomAD: rs72555371,
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|
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ClinVar: RCV000000998, RCV000673090, RCV003764505
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 male twins with type I GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 1772A-G transition in exon 16 of the GLB1 gene, resulting in a tyr591-to-cys (Y591C) substitution in a region common to the lysosomal enzyme and the EPB. Both had right intraventricular conduction delay. The family was from Apulia in southern Italy. </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>.0027 MUCOPOLYSACCHARIDOSIS, TYPE IVB</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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GLB1, c.75+2T-G
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<br />
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SNP: rs2125591484,
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ClinVar: RCV001391310
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient (patient 1) with mucopolysaccharidosis type IVB (MPS4B; 253010), Caciotti et al. (2021) identified compound heterozygosity for 2 mutations in the GLB1 gene: a splicing mutation (c.75+2T-G) predicted to interrupt a canonical splice donor site, and a c.2030T-G transversion predicted to result in a val677-to-gly (V677G; 611458.0028) substitution in the C-terminal region. The mutations were identified by Sanger sequencing of the GLB1 gene. The V677G mutation was reported in 2 of 249,468 alleles in only heterozygous state in the gnomAD database. Western blot analysis in patient lymphocytes showed increased expression of both GLB1 and EBP proteins. </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>.0028 MUCOPOLYSACCHARIDOSIS, TYPE IVB</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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GLB1, VAL677GLY
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<br />
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SNP: rs767685019,
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gnomAD: rs767685019,
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|
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ClinVar: RCV001244248, RCV001391311
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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>For discussion of the c.2030T-G transversion in the GLB1 gene, predicted to result in a val677-to-gly (V677G) substitution, that was found in compound heterozygous state in a patient with mucopolysaccharidosis type IVB (MPS4B; 253010) by Caciotti et al. (2021), see 611458.0027. </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>.0029 GM1-GANGLIOSIDOSIS, TYPE I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
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<span class="mim-text-font">
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GLB1, ASP151TYR
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<br />
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SNP: rs375582374,
|
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|
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gnomAD: rs375582374,
|
|
|
|
|
|
ClinVar: RCV001730468, RCV004798916
|
|
|
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|
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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 5-year-old Emirati boy, born to consanguineous parents, with the infantile form of GM1-gangliosidosis (GM1G1; 230500), Mohamed et al. (2020) identified homozygosity for a c.451G-T transversion in exon 4 of the GLB1 gene, resulting in an asp151-to-tyr (D151Y) substitution at a conserved residue. The mutation was identified by Sanger sequencing of the GLB1 gene. Protein modeling predicted that the mutation affected overall protein secondary structure. Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the ER. Further studies in patient fibroblasts demonstrated that ER trapping of the mutant protein did not trigger an unfolded protein response. </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>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Alroy et al. (1985); Baker et al. (1971); Rittmann et al. (1980);
|
|
Shows et al. (1978); Wenger et al. (1980)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Alroy, J., Orgad, U., Ucci, A. A., Schelling, S. H., Schunk, K. L., Warren, C. D., Raghavan, S. S., Kolodny, E. H.
|
|
<strong>Neurovisceral and skeletal G(M1)-gangliosidosis in dogs with beta-galactosidase deficiency.</strong>
|
|
Science 229: 470-472, 1985.
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|
|
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|
|
[PubMed: 3925555]
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|
|
[Full Text: https://doi.org/10.1126/science.3925555]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Baker, H. J., Jr., Lindsey, J. R., McKhann, G. M., Farrell, D. F.
|
|
<strong>Neuronal Gm(1) gangliosidosis in a Siamese cat with beta-galactosidase deficiency.</strong>
|
|
Science 174: 838-839, 1971.
|
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|
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|
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[PubMed: 5120520]
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[Full Text: https://doi.org/10.1126/science.174.4011.838]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others.
|
|
<strong>Recurrent and novel GLB1 mutations in India.</strong>
|
|
Gene 567: 173-181, 2015.
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[PubMed: 25936995]
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[Full Text: https://doi.org/10.1016/j.gene.2015.04.078]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Boustany, R. M., Qian, W. H., Suzuki, K.
|
|
<strong>Mutations in acid beta-galactosidase gene cause GM1-gangliosidosis in American patients.</strong>
|
|
Am. J. Hum. Genet. 53: 881-888, 1993.
|
|
|
|
|
|
[PubMed: 8213816]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A.
|
|
<strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong>
|
|
Hum. Genet. 113: 44-50, 2003.
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[PubMed: 12644936]
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[Full Text: https://doi.org/10.1007/s00439-003-0930-8]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A.
|
|
<strong>Morquio B disease: from pathophysiology towards diagnosis.</strong>
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|
Molec. Genet. Metab. 132: 180-188, 2021.
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[PubMed: 33558080]
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.01.008]
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Chakraborty, S., Rafi, M. A., Wenger, D. A.
|
|
<strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong>
|
|
Am. J. Hum. Genet. 54: 1004-1013, 1994.
|
|
|
|
|
|
[PubMed: 8198123]
|
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiu, N.-C., Qian, W.-H., Shanske, A. L., Brooks, S. S., Boustany, R.-M.
|
|
<strong>A common mutation site in the beta-galactosidase gene originates in Puerto Rico.</strong>
|
|
Pediat. Neurol. 14: 53-56, 1996.
|
|
|
|
|
|
[PubMed: 8652017]
|
|
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|
|
[Full Text: https://doi.org/10.1016/0887-8994(95)00255-3]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
de Wit, J., Hoeksema, H. L., Bootsma, D., Westerveld, A.
|
|
<strong>Assignment of structural beta-galactosidase loci to human chromosomes 3 and 22. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 217, 1979.
|
|
|
|
</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
de Wit, J., Hoeksema, H. L., Halley, D., Hagemeijer, A., Bootsma, D., Westerveld, A.
|
|
<strong>Regional localization of a beta-galactosidase locus on human chromosome 22.</strong>
|
|
Somat. Cell Genet. 3: 351-363, 1977.
|
|
|
|
|
|
[PubMed: 414365]
|
|
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|
|
[Full Text: https://doi.org/10.1007/BF01542965]
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|
</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Fan, J.-Q., Ishii, S., Asano, N., Suzuki, Y.
|
|
<strong>Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.</strong>
|
|
Nature Med. 5: 112-115, 1999.
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|
|
|
|
|
[PubMed: 9883849]
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|
|
[Full Text: https://doi.org/10.1038/4801]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K.
|
|
<strong>Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features.</strong>
|
|
Ann. Neurol. 9: 465-475, 1981.
|
|
|
|
|
|
[PubMed: 6791574]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410090509]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gort, L., Santamaria, R., Grinberg, D., Vilageliu, L., Chabas, A.
|
|
<strong>Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.</strong>
|
|
Clin. Genet. 72: 109-111, 2007.
|
|
|
|
|
|
[PubMed: 17661814]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00843.x]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hahn, C. N., del Pilar Martin, M., Schroder, M., Vanier, M. T., Hara, Y., Suzuki, K., Suzuki, K., d'Azzo, A.
|
|
<strong>Generalized CNS disease and massive G(M1)-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.</strong>
|
|
Hum. Molec. Genet. 6: 205-211, 1997.
|
|
|
|
|
|
[PubMed: 9063740]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.2.205]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hertz, J. M., Coerdt, W., Hahnemann, N., Schwartz, M.
|
|
<strong>Interstitial deletion of the short arm of chromosome 3: fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11-p14.2).</strong>
|
|
Hum. Genet. 79: 389-391, 1988.
|
|
|
|
|
|
[PubMed: 3137147]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00282185]
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|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W.
|
|
<strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong>
|
|
Am. J. Hum. Genet. 67: 23-36, 2000.
|
|
|
|
|
|
[PubMed: 10841810]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302968]
|
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|
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hinek, A.
|
|
<strong>Biological roles of the non-integrin elastin/laminin receptor.</strong>
|
|
Biol. Chem. 377: 471-480, 1996.
|
|
|
|
|
|
[PubMed: 8922281]
|
|
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ishii, N., Oohira, T., Oshima, A., Sakuraba, H., Endo, F., Matsuda, I., Sukegawa, K., Orii, T., Suzuki, Y.
|
|
<strong>Clinical and molecular analysis of a Japanese boy with Morquio B disease.</strong>
|
|
Clin. Genet. 48: 103-108, 1995.
|
|
|
|
|
|
[PubMed: 7586649]
|
|
|
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04065.x]
|
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</p>
|
|
</li>
|
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<li>
|
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<p class="mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/14/2021<br>Hilary J. Vernon - updated : 05/21/2021<br>Hilary J. Vernon - updated : 05/11/2021<br>Cassandra L. Kniffin - updated : 9/21/2010<br>Cassandra L. Kniffin - updated : 10/25/2007
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