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Entry
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- *300644 - GALACTOSIDASE, ALPHA; GLA
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- OMIM
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<p>
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<span class="h4">*300644</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300644">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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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</ul>
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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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<h4 class="panel-title">
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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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<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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<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=ENSG00000102393;t=ENST00000218516" 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=2717" 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=300644" 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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<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=ENSG00000102393;t=ENST00000218516" 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_000169,NM_001406747,NM_001406748,NM_001406749,NR_164783,NR_176252,NR_176253,XM_047441990" 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_000169" 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=300644" 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=02357&isoform_id=02357_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/GLA" 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/31756,113499,178246,183229,553299,757912,1684916,3808178,4504009,12803707,30582567,62896813,119623267,119623268,158255626,194386166,957554387,2217391604,2240897265,2240897294,2240897337,2462628994" 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/P06280" 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=2717" 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=ENSG00000102393;t=ENST00000218516" 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=GLA" 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=GLA" 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+2717" 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/GLA" 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:2717" 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/2717" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000218516.4&hgg_start=101397803&hgg_end=101407925&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 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:4296" 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:4296" 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/gla" 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=300644[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=300644[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GLA/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000102393" 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=GLA" 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=GLA" 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=GLA" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/GLA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">GLA database at LOVD</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=GLA" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GLA&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/PA28707" 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:4296" 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/FBgn0034117.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:1347344" 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/GLA#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:1347344" 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/2717/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2717" 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=WBGene00011095;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-041010-207" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2717" 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=GLA&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> 124464003, 16652001<br />
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<strong>ICD10CM:</strong> E75.21<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300644
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GALACTOSIDASE, ALPHA; GLA
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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">
|
|
ALPHA-GALACTOSIDASE A; GALA
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GLA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLA</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/502?start=-3&limit=10&highlight=502">Xq22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:101397803-101407925&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'})">X:101,397,803-101,407,925</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/502?start=-3&limit=10&highlight=502">
|
|
Xq22.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Fabry disease
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/301500"> 301500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<a href="/entry/301500"> 301500 </a>
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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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<p>The GLA gene encodes alpha-galactosidase (GLA; <a href="https://enzyme.expasy.org/EC/3.2.1.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.22</a>), a lysosomal hydrolase.</p>
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<p><a href="#6" class="mim-tip-reference" title="Calhoun, D. H., Bishop, D. F., Bernstein, H. S., Quinn, M., Hantzopoulos, P., Desnick, R. J. <strong>Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.</strong> Proc. Nat. Acad. Sci. 82: 7364-7368, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2997789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2997789</a>] [<a href="https://doi.org/10.1073/pnas.82.21.7364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2997789">Calhoun et al. (1985)</a> isolated clones corresponding to the GLA gene from a human liver cDNA library. The 370-amino acid protein has a molecular mass of 41.4 kD. The mature active enzyme is a homodimeric protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2997789" 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="Bishop, D. F., Calhoun, D. H., Bernstein, H. S., Hantzopoulos, P., Quinn, M., Desnick, R. J. <strong>Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.</strong> Proc. Nat. Acad. Sci. 83: 4859-4863, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3014515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3014515</a>] [<a href="https://doi.org/10.1073/pnas.83.13.4859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3014515">Bishop et al. (1986)</a> isolated GLA cDNA clones and found an open reading frame of 398 residues with a molecular mass of 45.4 kD. RNA transfer hybridization analysis detected a 1.45-kb transcript. <a href="#4" class="mim-tip-reference" title="Bishop, D. F., Kornreich, R., Desnick, R. J. <strong>Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3-prime untranslated region.</strong> Proc. Nat. Acad. Sci. 85: 3903-3907, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2836863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2836863</a>] [<a href="https://doi.org/10.1073/pnas.85.11.3903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2836863">Bishop et al. (1988)</a> determined that the GLA gene lacks a 3-prime untranslated sequence, with the polyadenylation signal included in the coding region. <a href="#34" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.</strong> Trans. Assoc. Am. Phys. 102: 30-43, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2561643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2561643</a>]" pmid="2561643">Kornreich et al. (1989)</a> presented the complete nucleotide sequence of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2836863+2561643+3014515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RT-PCR amplification of genomic GLA DNA isolated from normal individuals, <a href="#48" class="mim-tip-reference" title="Novo, F. J., Kruszewski, A., MacDermot, K. D., Goldspink, G., Gorecki, D. C. <strong>Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.</strong> Nucleic Acids Res. 23: 2636-2640, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503918</a>] [<a href="https://doi.org/10.1093/nar/23.14.2636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7503918">Novo et al. (1995)</a> found that a subset of RNA molecules had a 1187U-A conversion which differed from the wildtype cDNA sequence. Multiple genes, pseudogenes, or allelic variants were excluded. <a href="#48" class="mim-tip-reference" title="Novo, F. J., Kruszewski, A., MacDermot, K. D., Goldspink, G., Gorecki, D. C. <strong>Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.</strong> Nucleic Acids Res. 23: 2636-2640, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7503918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7503918</a>] [<a href="https://doi.org/10.1093/nar/23.14.2636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7503918">Novo et al. (1995)</a> proposed RNA editing as a mechanism responsible for this base change in the GLA RNA, similar to that which has been demonstrated for the nuclear encoded RNA for intestinal apoB (<a href="/entry/107730">107730</a>) and several subunits of brain L-glutamate receptors such as GLUR2 (<a href="/entry/138247">138247</a>), GLUR5 (<a href="/entry/138245">138245</a>), and GLUR6 (<a href="/entry/138244">138244</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7503918" 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="#4" class="mim-tip-reference" title="Bishop, D. F., Kornreich, R., Desnick, R. J. <strong>Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3-prime untranslated region.</strong> Proc. Nat. Acad. Sci. 85: 3903-3907, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2836863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2836863</a>] [<a href="https://doi.org/10.1073/pnas.85.11.3903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2836863">Bishop et al. (1988)</a> determined that the GLA gene contains 7 exons and spans about 12 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2836863" 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>The GLA gene was localized to the X chromosome using cell hybridization techniques (<a href="#24" class="mim-tip-reference" title="Grzeschik, K.-H. <strong>Personal Communication.</strong> Leiden, The Netherlands 1972."None>Grzeschik, 1972</a>).</p><p>From study of radiation-induced segregants in which irradiated human cells are rescued by fusion with hamster cells, <a href="#23" class="mim-tip-reference" title="Goss, S. J., Harris, H. <strong>Gene transfer by means of cell fusion. I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation.</strong> J. Cell Sci. 25: 17-37, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/561093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">561093</a>] [<a href="https://doi.org/10.1242/jcs.25.1.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="561093">Goss and Harris (1977)</a> showed that the order of the following 4 loci on Xq is PGK--alpha-GAL--HPRT--G6PD and that the 3 intervals between these 4 loci are, in relative terms, 0.33, 0.30, and 0.23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=561093" 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="#40" class="mim-tip-reference" title="Lusis, A. J., West, J. D. <strong>X-linked inheritance of a structural gene for alpha-galactosidase in Mus musculus.</strong> Biochem. Genet. 14: 849-855, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1008807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1008807</a>] [<a href="https://doi.org/10.1007/BF00485346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1008807">Lusis and West (1976)</a> reported X-linked inheritance of the Gla gene in the mouse. Alpha-GAL, HPRT, PGK and G6PD are X-linked in the rabbit, according to mouse-rabbit hybrid cell studies (<a href="#11" class="mim-tip-reference" title="Cianfriglia, M., Miggiano, V. C., Meo, T., Muller, H. J., Muller, E., Battistuzzi, G. <strong>Evidence for synteny between the rabbit gene loci coding for HPRT, PGK and G6PD in mouse-rabbit somatic cell hybrids. (Abstract)</strong> Cytogenet. Cell Genet. 25: 142, 1979."None>Cianfriglia et al., 1979</a>; <a href="#16" class="mim-tip-reference" title="Echard, G., Gillois, M. <strong>Rabbit gene mapping: G6PD--alpha-GAL-PGK--HPRT synteny. (Abstract)</strong> Cytogenet. Cell Genet. 25: 148, 1979."None>Echard and Gillois, 1979</a>). By comparable methods, <a href="#27" class="mim-tip-reference" title="Hors-Cayla, M. C., Heuertz, S., Van Cong, N., Benne, F. <strong>Cattle gene mapping by somatic cell hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 25: 165-166, 1979."None>Hors-Cayla et al. (1979)</a> found them to be X-linked also in cattle. <a href="#19" class="mim-tip-reference" title="Francke, U., Taggart, R. T. <strong>Regional mapping of SOD-1 on mouse chromosome 16, and of HPRT and alpha-GAL (Ags) on mouse X, using Chinese hamster-mouse T(X;16)16H somatic cell hybrids. (Abstract)</strong> Cytogenet. Cell Genet. 25: 155-156, 1979."None>Francke and Taggart (1979)</a> assigned HPRT and alpha-GAL to the X chromosome in the Chinese hamster by study of mouse-Chinese hamster hybrid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1008807" 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="#14" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Sequence variations in the first exon of alpha-galactosidase A.</strong> J. Med. Genet. 30: 658-663, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411052</a>] [<a href="https://doi.org/10.1136/jmg.30.8.658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8411052">Davies et al. (1993)</a> demonstrated 3 polymorphic variants in the first exon of the GLA gene, which contains 60 bp of 5-prime untranslated sequence before the methionine initiation codon. Such a high level of polymorphism had not previously been reported and was unusual in such a short stretch of DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8411052" 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 Fabry disease (<a href="/entry/301500">301500</a>), <a href="#2" class="mim-tip-reference" title="Bernstein, H. S., Bishop, D. F., Astrin, K. H., Kornreich, R., Eng, C. M., Sakuraba, H., Desnick, R. J. <strong>Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.</strong> J. Clin. Invest. 83: 1390-1399, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539398</a>] [<a href="https://doi.org/10.1172/JCI114027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2539398">Bernstein et al. (1989)</a> identified a mutation in the GLA gene (<a href="#0001">300644.0001</a>). The substitution altered the enzyme's kinetic properties and stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2539398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> identified 18 different mutations in the GLA gene (see, e.g., <a href="#0012">300644.0012</a>; <a href="#0013">300644.0013</a>; <a href="#0018">300644.0018</a>-<a href="#0022">300644.0022</a>) in patients with Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="#36" class="mim-tip-reference" title="Lai, L.-W., Whitehair, O., Wu, M.-J., O'Meara, M., Lien, Y.-H. H. <strong>Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.</strong> Clin. Genet. 63: 476-482, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786754</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12786754">Lai et al. (2003)</a> pointed out that most of the mutations in the GLA gene were identified in Fabry disease patients by genomic sequencing only, and therefore some of the splicing mutations were misclassified as missense mutations. To predict splicing events caused by specific mutations, they conducted a literature search for all published GLA mutations located near splice sites, including exonic point mutations, and performed a splice site score (SSS) analysis. They found 13 donor site mutations, 6 acceptor site mutations, and 1 new exon creation. All mutated splice sites, except for the 1 associated with new exon creation, had a lower SSS than their respective natural sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786754" 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="#58" class="mim-tip-reference" title="Yasuda, M., Shabbeer, J., Osawa, M., Desnick, R. J. <strong>Fabry disease: novel alpha-galactosidase A 3-prime-terminal mutations result in multiple transcripts due to aberrant 3-prime-end formation.</strong> Am. J. Hum. Genet. 73: 162-173, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796853</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12796853[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/10.1086/376608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796853">Yasuda et al. (2003)</a> noted that the human GLA gene is one of the rare mammalian genes that has its polyadenylation signal in the coding sequence and lacks a 3-prime untranslated region. In 2 unrelated men with classic Fabry disease, they identified 2 novel frameshift mutations, 1277delAA (<a href="#0060">300644.0060</a>) and 1284delACTT (<a href="#0061">300644.0061</a>), which occurred in the 3-prime terminus of the coding region and obliterated the termination codon; the 2-bp deletion also altered the polyadenylation signal. Both mutations generated multiple transcripts of various lengths of 3-prime terminal sequences, some elongated by approximately 1 kb. Northern blot analysis suggested that mRNA degradation did not occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796853" 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>Splicing Patterns</em></strong></p><p>
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In the context of examining splice site mutations in the GLA gene, <a href="#36" class="mim-tip-reference" title="Lai, L.-W., Whitehair, O., Wu, M.-J., O'Meara, M., Lien, Y.-H. H. <strong>Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.</strong> Clin. Genet. 63: 476-482, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786754</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12786754">Lai et al. (2003)</a> discussed the 5 major aberrant splicing patterns caused by mutations in general: exon skipping, cryptic site activation, new site creation, intron retention, and disruption of exonic splicing enhancers (<a href="#44" class="mim-tip-reference" title="Nakai, K., Sakamoto, H. <strong>Construction of a novel database containing aberrant splicing mutations of mammalian genes.</strong> Gene 141: 171-177, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8163185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8163185</a>] [<a href="https://doi.org/10.1016/0378-1119(94)90567-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8163185">Nakai and Sakamoto, 1994</a>; <a href="#12" class="mim-tip-reference" title="Cooper, T. A., Mattox, W. <strong>The regulation of splice-site selection, and its role in human disease.</strong> Am. J. Hum. Genet. 61: 259-266, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9311728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9311728</a>] [<a href="https://doi.org/10.1086/514856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9311728">Cooper and Mattox, 1997</a>). The selection of splicing patterns is based on many factors. When no strong cryptic site or newly created site is available, destruction of either the donor or acceptor splice site causes skipping of the neighboring exon. Cryptic splice sites are normally silent consensus sites that are activated when the authentic site is destroyed by mutation. In general, the distance between the authentic site and the cryptic site is about 100 nucleotides long. Mutations also can result in the creation of a new splice site, which may or may not be associated with destruction of the authentic site. If the authentic site is not altered, the new splice site is always in the upstream region of the authentic site. Intron retention occurs infrequently and sometimes simultaneously with other splicing patterns. Cis element exonic splicing enhancers (ESE) also have a role in the regulation of splicing. See the report of <a href="#39" class="mim-tip-reference" title="Liu, H.-X., Cartegni, L., Zhang, M. Q., Krainer, A. R. <strong>A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.</strong> Nature Genet. 27: 55-58, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11137998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11137998</a>] [<a href="https://doi.org/10.1038/83762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11137998">Liu et al. (2001)</a> showing that disruption of an exonic splicing enhancer resulted in missplicing of exon 18 in the BRCA1 gene (<a href="/entry/113705">113705</a>). Similar mechanisms may explain why many exonic missense or nonsense mutations that are not located at splice sites are associated with exon skipping. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8163185+12786754+9311728+11137998" 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>Using the x-ray crystal structure of human alpha-galactosidase reported by <a href="#21" class="mim-tip-reference" title="Garman, S. C., Garboczi, D. N. <strong>The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.</strong> J. Molec. Biol. 337: 319-335, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15003450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15003450</a>] [<a href="https://doi.org/10.1016/j.jmb.2004.01.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15003450">Garman and Garboczi (2004)</a>, <a href="#42" class="mim-tip-reference" title="Matsuzawa, F., Aikawa, S., Doi, H., Okumiya, T., Sakuraba, H. <strong>Fabry disease: correlation between structural changes in a-galactosidase, and clinical and biochemical phenotypes.</strong> Hum. Genet. 117: 317-328, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15924232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15924232</a>] [<a href="https://doi.org/10.1007/s00439-005-1300-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15924232">Matsuzawa et al. (2005)</a> performed computerized 3-dimensional structural analysis of the mutant enzyme resulting from 161 missense mutations in the GLA gene causing Fabry disease. Mutations resulting in the severe classic phenotype showed a wide distribution in the number of atoms affected by the mutation, but the majority (82%) had 3 or more affected atoms in the main chain of the protein. Nineteen classic mutations affected the active site or the substrate-binding site of the enzyme. By contrast, 85% of mutations resulting in the milder variant phenotype had less than 3 atoms influenced in the main chain, and none of the variant mutations affected the active site. These results suggested that variant Fabry mutations cause small changes that do not affect the whole protein structure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15003450+15924232" 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="#42" class="mim-tip-reference" title="Matsuzawa, F., Aikawa, S., Doi, H., Okumiya, T., Sakuraba, H. <strong>Fabry disease: correlation between structural changes in a-galactosidase, and clinical and biochemical phenotypes.</strong> Hum. Genet. 117: 317-328, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15924232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15924232</a>] [<a href="https://doi.org/10.1007/s00439-005-1300-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15924232">Matsuzawa et al. (2005)</a> performed further analysis of 11 specific mutations in the GLA gene, which the authors subdivided into 4 groups according to the clinical and biochemical phenotypes of Fabry disease: classic with a completely dysfunctional and ineffective protein; classic with an unstable and ineffective protein; classic with an unstable but moderately effective protein; and variant with an unstable but effective protein. In particular, the G328R (<a href="#0010">300644.0010</a>) mutation, which results in an unstable, ineffective protein, had 77 and 53 affected atoms in the main and side chains, respectively. The variant mutations Q279E (<a href="#0008">300644.0008</a>) and M296I (<a href="#0051">300644.0051</a>) were located apart from the active site and affected less than 3 atoms each in the main chain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15924232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese patient with the cardiac variant of Fabry disease, <a href="#30" class="mim-tip-reference" title="Ishii, S., Sakuraba, H., Suzuki, Y. <strong>Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.</strong> Hum. Genet. 89: 29-32, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315715</a>] [<a href="https://doi.org/10.1007/BF00207037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315715">Ishii et al. (1992)</a> identified a mutation in the GLA gene (<a href="#0008">300644.0008</a>) associated with residual GLA enzyme activity. The patient developed dyspnea and bradycardia for the first time at age 60 years and died of heart failure at age 64. He was found to have complete left bundle branch block associated with hypertrophy of the left ventricular wall and interventricular septum. He had no other signs or symptoms characteristic of Fabry disease except proteinuria, which was found after cardiac failure had developed. Myocardial biopsy had shown inclusion bodies on electron microscopic examination. A 39-year-old nephew was asymptomatic but showed a thick interventricular septum and left ventricular wall by echocardiography and magnetic resonance imaging. The mutation in this case, as in 2 other cases of the cardiac form (<a href="#0003">300644.0003</a>, <a href="#0005">300644.0005</a>), was located in exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1315715" 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="Oliveira, J. P., Nowak, A., Barbey, F., Torres, M., Nunes, J. P., Teixeira-e-Costa, F., Carvalho, F., Sampaio, S., Tavares, I., Pereira, O., Soares, A. L., Carmona, C, Cardoso, M.-T., Jurca-Simina, I. E., Spada, M., Ferreira, S., Germain, D. P. <strong>Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: natural history in males.</strong> Europ. J. Med. Genet. 63: 103703, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31200018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31200018</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31200018">Oliveira et al. (2020)</a> reported 11 symptomatic Portuguese males from 10 families with Fabry disease who had a hemizygous F113L (<a href="#0063">300644.0063</a>) mutation in the GLA gene. All of the patients had a late-onset form of the disorder, manifesting with a cardiac phenotype invariably including cardiomyopathy/hypertrophic cardiomyopathy, and often including other features such as conduction defects, arrhythmias, and myocardial ischemia. Some patients also had cerebrovascular or kidney involvement, although the association with the GLA mutation was confounded by the presence of other risk factors (e.g., hypertension, diabetes, obesity). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31200018" 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 population of 150 adults with hypertrophic cardiomyopathy in Guimaraes, Portugal, <a href="#1" class="mim-tip-reference" title="Azevedo, O., Gal, A., Faria, R., Gaspar, P., Miltenberger-Miltenyi, G., Gago, M. F., Dias, F., Martins, A., Rodrigues, J., Reimao, P., Pereira, O., Simoes, S., Lopes, E., Guimaraes, M. J., Sousa, N., Cunha, D. <strong>Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype.</strong> Molec. Genet. Metab. 129: 150-160, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31519519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31519519</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31519519">Azevedo et al. (2020)</a> identified 25 patients with Fabry disease, 21 of whom were hemizygous or heterozygous for the F113L mutation in the GLA gene. Genealogy studies demonstrated a common ancestor in 17 of the 21 patients. Through pedigree analysis in these patients, <a href="#1" class="mim-tip-reference" title="Azevedo, O., Gal, A., Faria, R., Gaspar, P., Miltenberger-Miltenyi, G., Gago, M. F., Dias, F., Martins, A., Rodrigues, J., Reimao, P., Pereira, O., Simoes, S., Lopes, E., Guimaraes, M. J., Sousa, N., Cunha, D. <strong>Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype.</strong> Molec. Genet. Metab. 129: 150-160, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31519519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31519519</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31519519">Azevedo et al. (2020)</a> identified 120 patients, including 47 males and 73 females, with Fabry disease due to the F113L mutation. The mean age at diagnosis was 46 years, which was similar in both genders. Left ventricular hypertrophy (LVH) was identified in 49 patients, with a male predominance, and most patients were diagnosed with LVH at or after 40 years of age. Albuminuria was identified in 36.1% of patients; however, renal insufficiency was rare and no patient progressed to dialysis. Acroparesthesias were more common in females (34.2% of females and 6.4% of males). Sensorineural hearing loss was more common in males (30.8% of females and 64.4% of males). Strokes and angiokeratomas were rare. <a href="#1" class="mim-tip-reference" title="Azevedo, O., Gal, A., Faria, R., Gaspar, P., Miltenberger-Miltenyi, G., Gago, M. F., Dias, F., Martins, A., Rodrigues, J., Reimao, P., Pereira, O., Simoes, S., Lopes, E., Guimaraes, M. J., Sousa, N., Cunha, D. <strong>Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype.</strong> Molec. Genet. Metab. 129: 150-160, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31519519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31519519</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31519519">Azevedo et al. (2020)</a> concluded that the F113L mutation in the Guimaraes region of Portugal was associated with a cardiac-predominant, late-onset form of Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31519519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300644[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894827;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=rs104894827" 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=rs104894827" 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=RCV000011459 OR RCV001781217 OR RCV003398483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011459, RCV001781217, RCV003398483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011459...</a>
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<p>In a patient with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#2" class="mim-tip-reference" title="Bernstein, H. S., Bishop, D. F., Astrin, K. H., Kornreich, R., Eng, C. M., Sakuraba, H., Desnick, R. J. <strong>Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.</strong> J. Clin. Invest. 83: 1390-1399, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539398</a>] [<a href="https://doi.org/10.1172/JCI114027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2539398">Bernstein et al. (1989)</a> identified a 1066C-T transition in the GLA gene, resulting in an arg356-to-trp (R356W) substitution. The substitution altered the enzyme's kinetic properties and stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2539398" 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">rs2147477260 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147477260;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=rs2147477260" 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=rs2147477260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147478154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147478154;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=rs2147478154" 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=rs2147478154" 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=RCV000011460" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011460" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011460</a>
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<p><a href="#20" class="mim-tip-reference" title="Fukuhara, Y., Sakuraba, H., Oshima, A., Shimmoto, M., Nagao, Y., Nadaoka, Y., Suzuki, T., Suzuki, Y. <strong>Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.</strong> Biochem. Biophys. Res. Commun. 170: 296-300, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164807</a>] [<a href="https://doi.org/10.1016/0006-291x(90)91273-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2164807">Fukuhara et al. (1990)</a> reported partial deletion of the GLA gene in a case of Fabry disease (<a href="/entry/301500">301500</a>). The deletion involved exon 3 and was associated with an A-to-C transversion. The 402-bp deletion was flanked by 6-bp direct repeat sequences. These structures may have promoted 'slipped mispairing' as the origin of the mutation in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2164807" 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 FABRY DISEASE, CARDIAC VARIANT</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">rs104894828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894828;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=rs104894828" 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=rs104894828" 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=RCV000011461 OR RCV000011462 OR RCV000244581 OR RCV000723405 OR RCV000845380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011461, RCV000011462, RCV000244581, RCV000723405, RCV000845380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011461...</a>
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<p>In a Japanese patient with Fabry disease following an atypical clinical course characterized by late-onset cardiac involvement and significant residual GLA (see <a href="/entry/301500">301500</a>), <a href="#52" class="mim-tip-reference" title="Sakuraba, H., Oshima, A., Fukuhara, Y., Shimmoto, M., Nagao, Y., Bishop, D. F., Desnick, R. J., Suzuki, Y. <strong>Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.</strong> Am. J. Hum. Genet. 47: 784-789, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2171331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2171331</a>]" pmid="2171331">Sakuraba et al. (1990)</a> identified a G-to-A transition in exon 6 of the GLA gene, resulting in an arg301-to-gln (R301Q) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2171331" 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="#53" class="mim-tip-reference" title="Sawada, K., Mizoguchi, K., Hishida, A., Kaneko, E., Koide, Y., Nishimura, K., Kimura, M. <strong>Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.</strong> Clin. Nephrol. 45: 289-294, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8738659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8738659</a>]" pmid="8738659">Sawada et al. (1996)</a> identified the R301Q substitution in a 45-year-old man who developed moderate proteinuria and was found to have the renal histologic findings of Fabry disease, together with a decrease in activity of alpha-galactosidase A in his plasma, urine, leukocytes, and skin fibroblasts. The mutation was inherited from his mother. The patient was unique in that he demonstrated only renal manifestations, whereas all other patients with atypical Fabry disease, including a case with the identical point mutation (<a href="#52" class="mim-tip-reference" title="Sakuraba, H., Oshima, A., Fukuhara, Y., Shimmoto, M., Nagao, Y., Bishop, D. F., Desnick, R. J., Suzuki, Y. <strong>Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.</strong> Am. J. Hum. Genet. 47: 784-789, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2171331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2171331</a>]" pmid="2171331">Sakuraba et al., 1990</a>), presented with cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8738659+2171331" 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="Kase, R., Bierfreund, U., Klein, A., Kolter, T., Utsumi, K., Itoh, K., Sandhoff, K., Sakuraba, H. <strong>Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.</strong> Biochim. Biophys. Acta 1501: 227-235, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10838196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10838196</a>] [<a href="https://doi.org/10.1016/s0925-4439(00)00024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10838196">Kase et al. (2000)</a> characterized this mutant and another, Q279E (<a href="#0008">300644.0008</a>), in a patient with the cardiac variant of Fabry disease. In contrast to patients with classic Fabry disease, who have no detectable alpha-galactosidase activity, patients with these variants have residual enzyme activity. Compared to normal control cells, fibroblasts from a patient with the Q279E mutation secreted only small amounts of alpha-galactosidase. The authors concluded that these 2 substitutions do not significantly affect enzymatic activity, but the mutant protein levels are decreased presumably in the endoplasmic reticulum of cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10838196" 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">rs104894829 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894829;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=rs104894829" 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=rs104894829" 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=RCV000011463" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011463" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011463</a>
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<p>In a Japanese patient with classic Fabry disease (<a href="/entry/301500">301500</a>) and no detectable alpha-galactosidase A activity, <a href="#52" class="mim-tip-reference" title="Sakuraba, H., Oshima, A., Fukuhara, Y., Shimmoto, M., Nagao, Y., Bishop, D. F., Desnick, R. J., Suzuki, Y. <strong>Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.</strong> Am. J. Hum. Genet. 47: 784-789, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2171331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2171331</a>]" pmid="2171331">Sakuraba et al. (1990)</a> found a G-to-A transition in exon 1 of the GLA gene, resulting in a trp44-to-ter (W44X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2171331" 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 FABRY DISEASE, CARDIAC VARIANT</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">rs104894830 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894830;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=rs104894830" 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=rs104894830" 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=RCV000011464 OR RCV000179267 OR RCV001185735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011464, RCV000179267, RCV001185735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011464...</a>
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<p>In a 54-year-old man with the cardiac variant of Fabry disease (see <a href="/entry/301500">301500</a>), <a href="#55" class="mim-tip-reference" title="von Scheidt, W., Eng, C. M., Fitzmaurice, T. F., Erdmann, E., Hubner, G., Olsen, E. G. J., Christomanou, H., Kandolf, R., Bishop, D. F., Desnick, R. J. <strong>An atypical variant of Fabry's disease with manifestations confined to the myocardium.</strong> New Eng. J. Med. 324: 395-399, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1846223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1846223</a>] [<a href="https://doi.org/10.1056/NEJM199102073240607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1846223">von Scheidt et al. (1991)</a> identified an 886A-G transition in exon 6 of the GLA gene, resulting in a met296-to-val (M296V) substitution. The patient had 'crescendo angina,' relieved by nitroglycerin, as well as electrocardiographic changes, but normal cardiac chamber size and normal systolic and diastolic function by echocardiogram. Cardiac catheterization showed no stenoses of the extramural coronary arteries. Diagnosis of Fabry disease was made by endomyocardial biopsy. Light-microscopic examination showed that approximately half the myocytes contained a centrally stored foamy material that stained metachromatically. By electron microscopy, typical myelin-figure-like concentric lamellar inclusions in lysosomes were observed. Most remarkably, the endothelial cells of the myocardial capillaries were not involved and no changes were observed in specimens of skeletal muscle, liver, rectum, and skin, including small blood vessels and nerves. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1846223" 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">rs869312287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312287;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=rs869312287" 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=rs869312287" 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=RCV000011465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011465</a>
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<p>In an 11-year-old boy with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#59" class="mim-tip-reference" title="Yokoi, T., Shinoda, K., Ohno, I., Kato, K., Miyawaki, T., Taniguchi, N. <strong>A 3-prime splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.</strong> Jpn. J. Hum. Genet. 36: 245-250, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1753437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1753437</a>] [<a href="https://doi.org/10.1007/BF01910542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1753437">Yokoi et al. (1991)</a> identified a G-to-A transition at the 3-prime consensus sequence (splicing acceptor) of intron 3 of the GLA gene. The mutation resulted in deletion of exon 4 and a frameshift with appearance of a terminating codon in exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1753437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 FABRY DISEASE</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">rs1603038103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603038103;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=rs1603038103" 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=rs1603038103" 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=RCV000011467" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011467" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011467</a>
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<p>In 3 affected brothers from a Japanese family with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#51" class="mim-tip-reference" title="Sakuraba, H., Eng, C. M., Desnick, R. J., Bishop, D. F. <strong>Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: a g(+1) to t substitution in a 5-prime-splice site causing Fabry disease.</strong> Genomics 12: 643-650, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315304</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90288-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315304">Sakuraba et al. (1992)</a> identified deletion of exon 6 due to a G-to-T transversion at the first nucleotide of the 5-prime splice site of intron 6 of the GLA gene. <a href="#51" class="mim-tip-reference" title="Sakuraba, H., Eng, C. M., Desnick, R. J., Bishop, D. F. <strong>Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: a g(+1) to t substitution in a 5-prime-splice site causing Fabry disease.</strong> Genomics 12: 643-650, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315304</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90288-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315304">Sakuraba et al. (1992)</a> stated that this was the first G-to-T transversion of a mammalian 5-prime splice site that consistently eliminated the preceding exon. <a href="#51" class="mim-tip-reference" title="Sakuraba, H., Eng, C. M., Desnick, R. J., Bishop, D. F. <strong>Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: a g(+1) to t substitution in a 5-prime-splice site causing Fabry disease.</strong> Genomics 12: 643-650, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315304</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90288-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315304">Sakuraba et al. (1992)</a> gave a tabulation of various mammalian 5-prime consensus splice site mutations that lead to exon skipping and in most cases use of cryptic splice sites. They pointed out that glycophorin B (GYPB; <a href="/entry/617923">617923</a>) of the Ss blood group (<a href="/entry/111740">111740</a>) differs from glycophorin A (GYPA; <a href="/entry/617922">617922</a>) of the MN blood group (<a href="/entry/111300">111300</a>) by 2 changes at the 5-prime splice site of intron 3 which presumably took place after duplication of the progenitor gene. As indicated in their Table 1, the gene for growth hormone-like (GH2; <a href="/entry/139240">139240</a>) differs from that for growth hormone (GH1; <a href="/entry/139250">139250</a>) by a G-to-A transition at position +1 of intron 2 in the duplicated gene (<a href="#9" class="mim-tip-reference" title="Chen, E. Y., Liao, Y.-C., Smith, D. H., Barrera-Saldana, H. A., Gelinas, R. E., Seeburg, P. H. <strong>The human growth hormone locus: nucleotide sequence, biology, and evolution.</strong> Genomics 4: 479-497, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2744760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2744760</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90271-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2744760">Chen et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2744760+1315304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 FABRY DISEASE, CARDIAC VARIANT</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">rs28935485 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935485;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=rs28935485" 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=rs28935485" 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=RCV000011468 OR RCV001781218" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011468, RCV001781218" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011468...</a>
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<p><a href="#30" class="mim-tip-reference" title="Ishii, S., Sakuraba, H., Suzuki, Y. <strong>Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.</strong> Hum. Genet. 89: 29-32, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315715</a>] [<a href="https://doi.org/10.1007/BF00207037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315715">Ishii et al. (1992)</a> identified an 835C-G transversion in the GLA gene, resulting in a gln279-to-glu (Q279E) substitution, in a Japanese patient with the cardiac variant of Fabry disease (see <a href="/entry/301500">301500</a>). The patient developed dyspnea and bradycardia for the first time at age 60 years and died of heart failure at age 64. He was found to have complete left bundle branch block associated with hypertrophy of the left ventricular wall and interventricular septum. He had no other signs or symptoms characteristic of Fabry disease except proteinuria, which was found after cardiac failure had developed. Myocardial biopsy had shown inclusion bodies on electron microscopic examination. A 39-year-old nephew was asymptomatic but showed a thick interventricular septum and left ventricular wall by echocardiography and magnetic resonance imaging. Both men had some residual alpha-galactosidase A activity. The mutation in this case, as in 2 other cases of the cardiac form (<a href="#0003">300644.0003</a>, <a href="#0005">300644.0005</a>), was located in exon 6. On the other hand, the gly328-to-arg mutation, located at the 3-prime end of exon 6 was associated with classic features of Fabry disease (see <a href="#0010">300644.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1315715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 FABRY DISEASE</strong>
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GLA, PRO40SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894831 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894831;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=rs104894831" 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=rs104894831" 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=RCV000011466 OR RCV000729403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011466, RCV000729403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011466...</a>
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<p><a href="#32" class="mim-tip-reference" title="Koide, T., Ishiura, M., Iwai, K., Inoue, M., Kaneda, Y., Okada, Y., Uchida, T. <strong>A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of pro40 by ser.</strong> FEBS Lett. 259: 353-356, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2152885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2152885</a>] [<a href="https://doi.org/10.1016/0014-5793(90)80046-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2152885">Koide et al. (1990)</a> described a pro40-to-ser (P40S) mutation in exon 1 of the GLA gene in a patient with Fabry disease (<a href="/entry/301500">301500</a>) and no detectable alpha-galactosidase A activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2152885" 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 FABRY DISEASE</strong>
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GLA, GLY328ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894832 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894832;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=rs104894832" 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=rs104894832" 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=RCV000011469 OR RCV000723846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011469, RCV000723846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011469...</a>
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<p>In a 34-year-old man with typical Fabry disease (<a href="/entry/301500">301500</a>), <a href="#30" class="mim-tip-reference" title="Ishii, S., Sakuraba, H., Suzuki, Y. <strong>Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.</strong> Hum. Genet. 89: 29-32, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315715</a>] [<a href="https://doi.org/10.1007/BF00207037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315715">Ishii et al. (1992)</a> identified a 982G-A transition in exon 6 of the GLA gene, resulting in a gly328-to-arg (G328R) substitution. This mutation was located at the 3-prime end of exon 6; mutations located at the central or 5-prime end of the exon were associated with the predominantly cardiac form of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1315715" 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>.0011 FABRY DISEASE</strong>
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GLA, GLU66GLN AND ARG112CYS
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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> rs104894833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894833;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/rs104894833?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=rs104894833" 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=rs104894833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894834;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=rs104894834" 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=rs104894834" 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=RCV000011470 OR RCV000150750 OR RCV000482440 OR RCV000728539 OR RCV000780291 OR RCV000822343 OR RCV002321570 OR RCV003162613 OR RCV004752756" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011470, RCV000150750, RCV000482440, RCV000728539, RCV000780291, RCV000822343, RCV002321570, RCV003162613, RCV004752756" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011470...</a>
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<p>In a 14-year-old boy with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#30" class="mim-tip-reference" title="Ishii, S., Sakuraba, H., Suzuki, Y. <strong>Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.</strong> Hum. Genet. 89: 29-32, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1315715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1315715</a>] [<a href="https://doi.org/10.1007/BF00207037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1315715">Ishii et al. (1992)</a> found 2 point mutations in exon 2 of the GLA gene: a GAG-to-CAG change causing a glu66-to-gln (E66Q) substitution, and a CGC-to-TGC change causing an arg112-to-cys (R112C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1315715" 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="Lee, B. H., Heo, S. H., Kim, G.-H., Park, J.-Y., Kim, W.-S., Kang, D.-H., Choe, K. H., Kim, W.-H., Yang, S. H., Yoo, H.-W. <strong>Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.</strong> J. Hum. Genet. 55: 512-517, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20505683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20505683</a>] [<a href="https://doi.org/10.1038/jhg.2010.58" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20505683">Lee et al. (2010)</a> presented evidence that the E66Q variant is a functional polymorphism and not disease causing. Substantial residual GLA activity was shown both in the leukocytes of individuals carrying E66Q (19.0 to 30.3% of normal activity) and in transiently overexpressed COS-7 cells (43.8% of normal activity). Although the E66Q-variant GLA was unstable at neutral pH, the enzyme was efficiently expressed in the lysosomes of COS-7 cells. The allele frequency of E66Q determined in 833 unrelated Korean individuals was considered to be high at 1.046%. The variant was found in 5 individuals from 4 Korean families during a screen of patients with Fabry disease. Of the 5 patients carrying E66Q, only 1 patient had proteinuria, and 2 had hypertrophic cardiomyopathy without other signs of the disorder. <a href="#37" class="mim-tip-reference" title="Lee, B. H., Heo, S. H., Kim, G.-H., Park, J.-Y., Kim, W.-S., Kang, D.-H., Choe, K. H., Kim, W.-H., Yang, S. H., Yoo, H.-W. <strong>Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.</strong> J. Hum. Genet. 55: 512-517, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20505683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20505683</a>] [<a href="https://doi.org/10.1038/jhg.2010.58" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20505683">Lee et al. (2010)</a> suggested that either these patients had a different etiology for their features or that they had a very mild atypical variant of the disease with other genetic or environmental factors contributing to the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20505683" 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 FABRY DISEASE</strong>
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GLA, ASN34SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894835 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894835;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=rs104894835" 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=rs104894835" 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=RCV000011471 OR RCV000723530" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011471, RCV000723530" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011471...</a>
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<p>In a patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found an A-to-G transition in exon 1 of the GLA gene, resulting in an asn34-to-ser (N34S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="0013" class="mim-anchor"></a>
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<strong>.0013 FABRY DISEASE</strong>
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GLA, CYS56GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894836 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894836;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=rs104894836" 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=rs104894836" 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=RCV000011472" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011472" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011472</a>
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<p>In an English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a T-to-G transversion in exon 1 of the GLA gene, resulting in a cys56-to-gly (C56G) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<strong>.0014 FABRY DISEASE</strong>
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GLA, PRO146SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894837 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894837;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=rs104894837" 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=rs104894837" 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=RCV000011473" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011473" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011473</a>
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<p>In a Dutch patient with mild Fabry disease (<a href="/entry/301500">301500</a>), <a href="#15" class="mim-tip-reference" title="deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. <strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong> Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>deJong et al. (1993)</a> found a C-to-T transition in exon 3 of the GLA gene, resulting in a pro146-to-ser (P146S) substitution.</p>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 FABRY DISEASE</strong>
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</span>
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</h4>
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GLA, ALA156THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935195 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935195;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=rs28935195" 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=rs28935195" 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=RCV000011474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011474</a>
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</span>
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<span class="mim-text-font">
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<p>In a Danish patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#41" class="mim-tip-reference" title="Madsen, K. M., Hasholt, L., Fermer, M. L., Dahl, N. <strong>Identification of mutations in Danish families with Fabry's disease. Proc. 2nd Int. Duodecim Symposium.</strong> Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>Madsen et al. (1993)</a> found a G-to-A transition in exon 3 of the GLA gene, resulting in an ala156-to-thr (A156T) substitution.</p>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 FABRY DISEASE</strong>
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GLA, TRP162ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935196 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935196;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=rs28935196" 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=rs28935196" 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=RCV000011475 OR RCV003137512" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011475, RCV003137512" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011475...</a>
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<p>In an Italian patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a T-to-C transition in exon 3 of the GLA gene, resulting in a trp162-to-arg (W162R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="0017" class="mim-anchor"></a>
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<strong>.0017 FABRY DISEASE</strong>
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GLA, CYS202TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894838 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894838;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=rs104894838" 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=rs104894838" 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=RCV000011476" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011476" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011476</a>
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<p>In a Dutch patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#15" class="mim-tip-reference" title="deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. <strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong> Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>deJong et al. (1993)</a> found a T-to-G transversion in exon 4 of the GLA gene, resulting in a cys202-to-trp (C202W) substitution.</p>
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<strong>.0018 FABRY DISEASE</strong>
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GLA, ASN215SER
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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> rs28935197 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935197;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/rs28935197?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=rs28935197" 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=rs28935197" 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=RCV000011477 OR RCV000157896 OR RCV000618059 OR RCV000844705 OR RCV001798000" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011477, RCV000157896, RCV000618059, RCV000844705, RCV001798000" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011477...</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> and <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> described an A-to-G transition in exon 5 of the GLA gene, resulting in an asn215-to-ser (N215S) substitution. The patients had mild forms of Fabry disease (<a href="/entry/301500">301500</a>) and residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7504405+8395937" 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="0019" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0019 FABRY DISEASE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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GLA, ARG227GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894840;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=rs104894840" 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=rs104894840" 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=RCV000011478 OR RCV000157898" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011478, RCV000157898" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011478...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> described an G-to-A transition in exon 5 of the GLA gene, resulting in an arg227-to-gln (R227Q) substitution. This mutation conforms to the CG-to-TG mutation 'hotspot' rule. In the complementary, antisense strand, 5-prime--xxxCGAxxx--3-prime is read as 3-prime--xxxGCTxxx--5-prime. Methylation of the cytosine in the CpG of the antisense codon with subsequent deamidation converts the antisense codon to GTT, which corresponds to the sense codon CAA. Read 5-prime to 3-prime, the CG in the sense strand has been changed to TG in the antisense strand; hence, the designation CG-to-TG 'hotspot' rule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<a id="0020" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0020 FABRY DISEASE</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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<div style="float: left;">
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GLA, ARG227TER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894841 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894841;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=rs104894841" 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=rs104894841" 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=RCV000011479 OR RCV000157897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011479, RCV000157897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011479...</a>
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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 patients with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> and <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> identified a C-to-T transition in exon 5 of the GLA gene, resulting in an arg227-to-ter (R227X) substitution. The mutation conforms to the CG-to-TG rule and has been found in more than 1 unrelated patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7504405+8395937" 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="0021" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0021 FABRY DISEASE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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GLA, ASP264VAL
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935486;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=rs28935486" 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=rs28935486" 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=RCV000011480 OR RCV000724649" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011480, RCV000724649" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011480...</a>
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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 Scottish/English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found an A-to-T transversion in exon 5 of the GLA gene, resulting in an asp264-to-val (D264V) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<a id="0022" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0022 FABRY DISEASE</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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<div style="float: left;">
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GLA, ASP266VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935487;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=rs28935487" 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=rs28935487" 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=RCV000011481 OR RCV000733417" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011481, RCV000733417" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011481...</a>
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<p>In an African American patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found an A-to-T transversion in exon 5 of the GLA gene, resulting in an asp266-to-val (D266V) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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 FABRY DISEASE</strong>
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GLA, VAL269ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935488 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935488;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=rs28935488" 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=rs28935488" 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=RCV000011482" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011482" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011482</a>
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<p>In an English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a GTG-to-GCG mutation in exon 6 of the GLA gene, resulting in a val269-to-ala (V269A) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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 FABRY DISEASE</strong>
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GLA, TRP287TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894839 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894839;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=rs104894839" 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=rs104894839" 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=RCV000011483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011483</a>
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<p>In an English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a TGG-to-TGA mutation in exon 6 of the GLA gene, resulting in a trp287-to-ter (W287X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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="0025" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0025 FABRY DISEASE</strong>
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GLA, SER297PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935489 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935489;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=rs28935489" 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=rs28935489" 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=RCV000011484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011484</a>
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<p>In an Italian patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a TCT-to-TTT mutation in exon 6 of the GLA gene, resulting in a ser297-to-phe (S297F) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="0026" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0026 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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GLA, ASP313TYR
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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> rs28935490 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935490;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/rs28935490?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=rs28935490" 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=rs28935490" 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=RCV000011486 OR RCV000035314 OR RCV000172895 OR RCV000250525 OR RCV000346926 OR RCV000487818 OR RCV000769536" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011486, RCV000035314, RCV000172895, RCV000250525, RCV000346926, RCV000487818, RCV000769536" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011486...</a>
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<p>This variant, formerly titled FABRY DISEASE, has been reclassified based on the findings of <a href="#57" class="mim-tip-reference" title="Yasuda, M., Shabbeer, J., Benson, S. D., Maire, I., Burnett, R. M., Desknick, R. J. <strong>Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.</strong> Hum. Mutat. 22: 486-492, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14635108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14635108</a>] [<a href="https://doi.org/10.1002/humu.10275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14635108">Yasuda et al. (2003)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14635108" 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 German patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a GAT-to-TAT mutation in exon 6 of the GLA gene, resulting in an asp313-to-tyr (D313Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="#57" class="mim-tip-reference" title="Yasuda, M., Shabbeer, J., Benson, S. D., Maire, I., Burnett, R. M., Desknick, R. J. <strong>Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.</strong> Hum. Mutat. 22: 486-492, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14635108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14635108</a>] [<a href="https://doi.org/10.1002/humu.10275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14635108">Yasuda et al. (2003)</a> found that expression of the D313Y variant in COS-7 cells resulted in 60% residual enzyme activity and that the enzyme was localized to lysosomes. In addition, the D313Y variant was found in 0.45% of 883 normal X chromosomes. Molecular homology modeling showed that the D313Y variant did not markedly disrupt enzyme structure. The variant enzyme was stable at lysosomal pH (4.5), but had decreased activity at neutral pH (7.4). Overall, the findings suggested that the D313Y variant is a functional polymorphism rather than a disease-causing variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14635108" 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="#38" class="mim-tip-reference" title="Lenders, M., Duning, T., Schelleckes, M., Schmitz, B., Stander, S., Rolfs, A., Brand, S.-M., Brand, E. <strong>Multifocal white matter lesions associated with the D313Y mutation of the alpha-galactosidase A gene.</strong> PLoS One 8: e55565, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23393592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23393592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23393592[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/10.1371/journal.pone.0055565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23393592">Lenders et al. (2013)</a> noted that the possible pathogenicity of the D313Y variant is controversial. They reported a large family in which 9 females and 1 male carried a heterozygous D313Y mutation; one of the females with the variant was deceased. Seven of the 8 who underwent brain imaging had multifocal white matter lesions, including several young individuals without cardiovascular risk factors. The white matter lesions were primarily subcortical and punctate, but some also were confluent with a periventricular localization. Brain MRI in 2 family members who did not carry the D313Y variant showed no white matter lesions. GLA enzyme activities were normal in carrier leukocytes, but were decreased in plasma. Lyso-Gb3 levels in plasma, which are increased in patients with Fabry disease, were normal. The proband, who carried the D313Y variant, had a peripheral small-fiber neuropathy with decreased intraepithelial nerve fiber density on nerve biopsy. None of the variant carriers had other evidence of Fabry disease, but <a href="#38" class="mim-tip-reference" title="Lenders, M., Duning, T., Schelleckes, M., Schmitz, B., Stander, S., Rolfs, A., Brand, S.-M., Brand, E. <strong>Multifocal white matter lesions associated with the D313Y mutation of the alpha-galactosidase A gene.</strong> PLoS One 8: e55565, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23393592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23393592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23393592[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/10.1371/journal.pone.0055565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23393592">Lenders et al. (2013)</a> postulated that the D313Y variant may act as a predisposing factor for neurologic manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23393592" 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="#47" class="mim-tip-reference" title="Niemann, M., Rolfs, A., Giese, A., Mascher, H., Breunig, F., Ertl, G., Wanner, C., Weidemann, F. <strong>Lyso-Gb3 indicates that the alpha-galactosidase A mutation D313Y is not clinically relevant for Fabry disease.</strong> JIMD Rep. 7: 99-102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430502</a>] [<a href="https://doi.org/10.1007/8904_2012_154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430502">Niemann et al. (2013)</a> reported a father and daughter with the D313Y variant. The daughter presented with diffuse skin lesions and nonspecific arm pain. Plasma GLA enzyme activity was mildly decreased. Skin biopsy showed keratosis pilaris rubra atrophicans, but no Fabry angioma. Her 53-year-old father had no clinical manifestations of Fabry disease, although his plasma GLA enzyme activity was also decreased. Lyso-Gb3 was below normal in the daughter and undetectable in the father. <a href="#47" class="mim-tip-reference" title="Niemann, M., Rolfs, A., Giese, A., Mascher, H., Breunig, F., Ertl, G., Wanner, C., Weidemann, F. <strong>Lyso-Gb3 indicates that the alpha-galactosidase A mutation D313Y is not clinically relevant for Fabry disease.</strong> JIMD Rep. 7: 99-102, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23430502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23430502</a>] [<a href="https://doi.org/10.1007/8904_2012_154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23430502">Niemann et al. (2013)</a> concluded that the D313Y variant is not clinically relevant for Fabry disease. The authors also suggested that pure assessment of GLA activity and even genetic testing is not sufficient for diagnosing Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23430502" 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 FABRY DISEASE</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">rs28935491 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935491;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=rs28935491" 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=rs28935491" 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=RCV000011487" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011487" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011487</a>
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<p>In an English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a CAA-to-AAA mutation in exon 6 of the GLA gene, resulting in a gln327-to-lys (Q327K) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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>.0028 FABRY DISEASE</strong>
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GLA, GLY328ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935492 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935492;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=rs28935492" 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=rs28935492" 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=RCV000011488 OR RCV000723545" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011488, RCV000723545" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011488...</a>
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<p>In a Scottish/Irish patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a GGG-to-GCG mutation in exon 6 of the GLA gene, resulting in a gly328-to-ala (G328A) substitution. A different mutation has also been described in the same codon (see <a href="#0010">300644.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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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GLA, TRP340TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894842 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894842;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=rs104894842" 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=rs104894842" 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=RCV000011489 OR RCV000727594" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011489, RCV000727594" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011489...</a>
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<p>In an African American patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a nonsense TGG-to-TGA mutation in exon 7 of the GLA gene, resulting in a trp340-to-ter (W340X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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>.0030 FABRY DISEASE</strong>
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GLA, ARG342GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935493 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935493;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=rs28935493" 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=rs28935493" 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=RCV000011490 OR RCV000723455" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011490, RCV000723455" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011490...</a>
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<p>In a Dutch patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#15" class="mim-tip-reference" title="deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. <strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong> Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>deJong et al. (1993)</a> found a CGA-to-CAA mutation in exon 7 of the GLA gene, resulting in an arg342-to-gln (R342Q) substitution. This mutation conforms to the CG-to-TG 'hotspot' rule.</p><p><a href="#22" class="mim-tip-reference" title="Germain, D. P. <strong>Co-occurrence and contribution of Fabry disease and Klippel-Trenaunay-Weber syndrome to a patient with atypical skin lesions.</strong> Clin. Genet. 60: 63-67, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11531972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11531972</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600110.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11531972">Germain (2001)</a> described a patient with Fabry disease due to the R342Q mutation who also had Klippel-Trenaunay-Weber syndrome (<a href="/entry/149000">149000</a>). The 30-year-old man had a complex vascular and cutaneous malformation. Skin examination showed numerous angiokeratomas, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk. The R342Q mutation was demonstrated in DNA extracted from fibroblast cultures established from both affected and unaffected skin areas, thus excluding the hypothesis of somatic mosaicism or revertant mosaicism. The patient had hypertrophy of the right leg, with dilated and varicose superficial veins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11531972" 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>.0031 FABRY DISEASE</strong>
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GLA, ARG342TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894843 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894843;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=rs104894843" 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=rs104894843" 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=RCV000011491 OR RCV000723730 OR RCV003398484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011491, RCV000723730, RCV003398484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011491...</a>
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<span class="mim-text-font">
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<p>In a Greek/English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a CGA-to-TGA mutation in exon 7 of the GLA gene, resulting in an arg342-to-ter (R342X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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="0032" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0032 FABRY DISEASE</strong>
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GLA, GLY361ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935494 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935494;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=rs28935494" 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=rs28935494" 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=RCV000011492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011492</a>
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<span class="mim-text-font">
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<p>In an English patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a GGA-to-CGA mutation in exon 7 of the GLA gene, resulting in a gly361-to-arg (G361R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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="0033" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0033 FABRY DISEASE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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GLA, GLU398TER
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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> rs104894844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894844;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/rs104894844?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=rs104894844" 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=rs104894844" 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=RCV000011493" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011493" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011493</a>
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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 Hispanic patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a nonsense GAA-to-TAA mutation in exon 7 of the GLA gene, resulting in a glu398-to-ter (E398X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<a id="0034" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0034 FABRY DISEASE</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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<div style="float: left;">
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GLA, IVSDS, GT-GG, +2
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906483 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906483;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=rs387906483" 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=rs387906483" 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=RCV000011485" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011485" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011485</a>
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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 Sephardic Jewish patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a T-to-G mutation at nucleotide +2 of the donor splice site of intron 2 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0035" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0035 FABRY DISEASE</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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<div style="float: left;">
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GLA, IVS5AS, DEL -2,-3
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044498 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044498;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=rs797044498" 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=rs797044498" 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=RCV000153317 OR RCV001386713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000153317, RCV001386713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000153317...</a>
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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 Irish patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a deletion of 2 nucleotides (-2 and -3) of the acceptor splice site of intron 5 of the GLA gene. The mutation is therefore tcag/exon 6 to tg/exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0036" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0036 FABRY DISEASE</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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<div style="float: left;">
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GLA, ALA143THR
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</div>
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</span>
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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> rs104894845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894845;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/rs104894845?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=rs104894845" 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=rs104894845" 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=RCV000011495 OR RCV000157242 OR RCV000211872 OR RCV000224064 OR RCV000618614 OR RCV000845429 OR RCV004752697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011495, RCV000157242, RCV000211872, RCV000224064, RCV000618614, RCV000845429, RCV004752697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011495...</a>
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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 34-year-old man with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#46" class="mim-tip-reference" title="Nance, C. S., Klein, C. J., Banikazemi, M., Dikman, S. H., Phelps, R. G., McArthur, J. C., Rodriguez, M., Desnick, R. J. <strong>Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.</strong> Arch. Neurol. 63: 453-457, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16533976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16533976</a>] [<a href="https://doi.org/10.1001/archneur.63.3.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16533976">Nance et al. (2006)</a> identified a G-to-A transition in the GLA gene, resulting in an ala143-to-thr (A143T) substitution. The patient had a 5-year history of progressive activity-induced leg and foot cramps and fasciculations with pain. No other stigmata of Fabry disease was present. His mother, who also carried the mutation, had a similar phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16533976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0037" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0037 FABRY DISEASE</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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<div style="float: left;">
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GLA, 13-BP DEL, NT125
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603047806 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603047806;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=rs1603047806" 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=rs1603047806" 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=RCV000011496" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011496" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011496</a>
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</span>
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<span class="mim-text-font">
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<p>In a Japanese patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#29" class="mim-tip-reference" title="Ishii, S., Sakuraba, H., Shimmoto, M., Minamikawa-Tachino, R., Suzuki, T., Suzuki, Y. <strong>Fabry disease: detection of a 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes..</strong> Ann. Neurol. 29: 560-564, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1650161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1650161</a>] [<a href="https://doi.org/10.1002/ana.410290517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1650161">Ishii et al. (1991)</a> identified a 13-bp deletion in exon 1 of the GLA gene. The deletion is flanked by a TGGG direct repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1650161" 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="0038" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0038 FABRY DISEASE</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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GLA, 1-BP DEL, NT716
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011497" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011497" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011497</a>
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</span>
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<p>In an English patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#13" class="mim-tip-reference" title="Davies, J. P., Winchester, B. G., Malcolm, S. <strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong> Hum. Molec. Genet. 2: 1051-1053, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8395937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8395937</a>] [<a href="https://doi.org/10.1093/hmg/2.7.1051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8395937">Davies et al. (1993)</a> found a 1-bp deletion at nucleotide 716 in exon 5 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8395937" 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>
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<div>
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<a id="0039" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0039 FABRY DISEASE</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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<div style="float: left;">
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GLA, 2-BP DEL, NT773
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869312398 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312398;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=rs869312398" 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=rs869312398" 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=RCV000011498" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011498" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011498</a>
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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 Portuguese patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a 2-bp deletion at nucleotide 773 in exon 5 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0040" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0040 FABRY DISEASE</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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<div style="float: left;">
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GLA, 5-BP INS, NT954
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603038220 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603038220;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=rs1603038220" 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=rs1603038220" 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=RCV000011499" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011499" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011499</a>
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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 German patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a 5-bp insertion starting at nucleotide 954 of exon 6 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<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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<a id="0041" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0041 FABRY DISEASE</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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<div style="float: left;">
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GLA, 11-BP DEL, NT1016
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603037764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603037764;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=rs1603037764" 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=rs1603037764" 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=RCV000011500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011500</a>
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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 German patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found an 11-bp deletion starting at nucleotide 1016 of exon 7 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0042" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0042 FABRY DISEASE</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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<div style="float: left;">
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GLA, 1-BP INS, NT1040
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1928137855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1928137855;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=rs1928137855" 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=rs1928137855" 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=RCV000011501" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011501" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011501</a>
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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 Dutch patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#15" class="mim-tip-reference" title="deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. <strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong> Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>deJong et al. (1993)</a> found a 1-bp insertion at nucleotide 1040 of exon 7 of the GLA gene.</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0043" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0043 FABRY DISEASE</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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<div style="float: left;">
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GLA, 53-BP DEL, NT1123
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603037323 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603037323;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=rs1603037323" 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=rs1603037323" 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=RCV000011502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011502</a>
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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 Dutch patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a 53-bp deletion starting at nucleotide 1123 of exon 7 of the GLA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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="0044" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0044 FABRY DISEASE</strong>
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GLA, 2-BP DEL, NT1176
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011503" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011503" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011503</a>
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<p>In a Dutch patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#15" class="mim-tip-reference" title="deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K. <strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong> Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993."None>deJong et al. (1993)</a> found a 2-bp deletion at nucleotide 1176 of exon 7 of the GLA gene. The deletion had a 6-bp inverted repeat at the breakpoint junction.</p>
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<a id="0045" class="mim-anchor"></a>
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<strong>.0045 FABRY DISEASE</strong>
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GLA, 3-BP DEL, 1208AAG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869312241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312241;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=rs869312241" 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=rs869312241" 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=RCV000011504 OR RCV001781219" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011504, RCV001781219" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011504...</a>
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</span>
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<span class="mim-text-font">
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<p>In an English patient with moderate Fabry disease (<a href="/entry/301500">301500</a>), <a href="#18" class="mim-tip-reference" title="Eng, C. M., Resnick-Silverman, L. A., Niehaus, D. J., Astrin, K. H., Desnick, R. J. <strong>Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.</strong> Am. J. Hum. Genet. 53: 1186-1197, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7504405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7504405</a>]" pmid="7504405">Eng et al. (1993)</a> found a 3-bp deletion (1208delAAG) in exon 7 of the GLA gene, resulting in the deletion of arg405. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7504405" 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>
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<a id="0046" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0046 FABRY DISEASE</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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GLA, EX1-2DEL
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011505" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011505" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011505</a>
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</span>
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<span class="mim-text-font">
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<p>In a Slavic patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#35" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>Alpha-galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene.</strong> J. Biol. Chem. 265: 9319-9326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2160973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2160973</a>]" pmid="2160973">Kornreich et al. (1990)</a> found a 4.6-kb deletion that included exons 1 and 2 of the GLA gene. The deletion breakpoints had a CCA direct repeat suggesting a possible functional role of this short sequence in illegitimate recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2160973" 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>
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<div>
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<a id="0047" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0047 FABRY DISEASE</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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GLA, EX3-4DEL
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011506" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011506" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011506</a>
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</span>
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<span class="mim-text-font">
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<p>In affected members of a Hispanic family with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#35" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>Alpha-galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene.</strong> J. Biol. Chem. 265: 9319-9326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2160973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2160973</a>]" pmid="2160973">Kornreich et al. (1990)</a> found a 3.2-kb deletion in the GLA gene that included exons 3 and 4. The 2 breakpoints occurred in Alu repetitive elements and Alu-Alu recombination is the probable mechanism of this deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2160973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0048" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0048 FABRY DISEASE</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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GLA, EX3-7DEL
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011507" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011507" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011507</a>
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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 English patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#35" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>Alpha-galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene.</strong> J. Biol. Chem. 265: 9319-9326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2160973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2160973</a>]" pmid="2160973">Kornreich et al. (1990)</a> found a 4.5-kb deletion in the GLA gene that included exons 3 to 6 and a portion of exon 7. The deletion breakpoints had an AAG direct repeat suggesting a possible functional role of this short sequence in illegitimate recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2160973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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</div>
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</div>
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<div>
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<a id="0049" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0049 FABRY DISEASE</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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<div style="float: left;">
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GLA, EX6-7DEL
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011508" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011508" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011508</a>
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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 Irish/German patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#35" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>Alpha-galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene.</strong> J. Biol. Chem. 265: 9319-9326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2160973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2160973</a>]" pmid="2160973">Kornreich et al. (1990)</a> found a deletion of 1.7 kb in the GLA gene that included exons 6 and 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2160973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0050" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0050 FABRY DISEASE</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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<div style="float: left;">
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GLA, EX2-6DUP
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</div>
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</span>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011509" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011509" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011509</a>
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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 English patient with severe Fabry disease (<a href="/entry/301500">301500</a>), <a href="#35" class="mim-tip-reference" title="Kornreich, R., Bishop, D. F., Desnick, R. J. <strong>Alpha-galactosidase A gene rearrangements causing Fabry disease: identification of short direct repeats at breakpoints in an Alu-rich gene.</strong> J. Biol. Chem. 265: 9319-9326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2160973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2160973</a>]" pmid="2160973">Kornreich et al. (1990)</a> found a duplication of 8.1 kb that included exons 2 to 5 and part of exon 6 of the GLA gene. The duplicated area was flanked by a TAGACA direct repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2160973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0051" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0051 FABRY DISEASE, CARDIAC VARIANT</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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GLA, MET296ILE
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894846 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894846;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=rs104894846" 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=rs104894846" 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=RCV000011510" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011510" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011510</a>
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<p>In a study of left ventricular hypertrophy in Japan, <a href="#45" class="mim-tip-reference" title="Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M., Yoshida, A., Kuriyama, M., Hayashibe, H., Sakuraba, H., Tanaka, H. <strong>An atypical variant of Fabry's disease in men with left ventricular hypertrophy.</strong> New Eng. J. Med. 333: 288-293, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7596372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7596372</a>] [<a href="https://doi.org/10.1056/NEJM199508033330504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7596372">Nakao et al. (1995)</a> found 7 of 230 males (3%) with low plasma alpha-galactosidase activity but none of the typical manifestations of Fabry disease (see <a href="/entry/301500">301500</a>), namely, angiokeratoma, acroparesthesias, hypohidrosis, or corneal opacities. One of the patients had a met296-to-ile (M296I) mutation in exon 6 of the GLA gene, whereas a second had an ala20-to-pro (A20P) mutation in exon 1 (<a href="#0052">300644.0052</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7596372" 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>.0052 FABRY DISEASE, CARDIAC VARIANT</strong>
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GLA, ALA20PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894847;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=rs104894847" 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=rs104894847" 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=RCV000011511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011511</a>
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<p>See <a href="#0051">300644.0051</a> and <a href="#45" class="mim-tip-reference" title="Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M., Yoshida, A., Kuriyama, M., Hayashibe, H., Sakuraba, H., Tanaka, H. <strong>An atypical variant of Fabry's disease in men with left ventricular hypertrophy.</strong> New Eng. J. Med. 333: 288-293, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7596372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7596372</a>] [<a href="https://doi.org/10.1056/NEJM199508033330504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7596372">Nakao et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7596372" 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>.0053 FABRY DISEASE</strong>
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GLA, 3-BP DEL, PHE383DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1057519609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519609;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=rs1057519609" 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=rs1057519609" 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=RCV000011512" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011512" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011512</a>
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<p><a href="#7" class="mim-tip-reference" title="Cariolou, M. A., Christodoulides, M., Manoli, P., Kokkofitou, A., Tsambaos, D. <strong>Novel trinucleotide deletion in Fabry's disease.</strong> Hum. Genet. 97: 468-470, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834244</a>] [<a href="https://doi.org/10.1007/BF02267068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834244">Cariolou et al. (1996)</a> described a novel trinucleotide deletion in the GLA gene in a Greek patient with Fabry disease (<a href="/entry/301500">301500</a>). This deletion led to loss of phenylalanine-383. The phenotype in this patient was unusual in that diffuse facial telangiectasia was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8834244" 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="0054" class="mim-anchor"></a>
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<strong>.0054 FABRY DISEASE</strong>
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GLA, SER65THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894848;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=rs104894848" 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=rs104894848" 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=RCV000011513" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011513" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011513</a>
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<p>In 2 unrelated Chinese patients with Fabry disease (<a href="/entry/301500">301500</a>), living in Taiwan, <a href="#8" class="mim-tip-reference" title="Chen, C.-H., Shyu, P.-W., Wu, S.-J., Sheu, S.-S., Desnick, R. J., Hsiao, K.-J. <strong>Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.</strong> Hum. Mutat. 11: 328-330, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554750</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9554750">Chen et al. (1998)</a> identified a G-to-C transversion in the last nucleotide of exon 1 of the GLA gene, which not only resulted in a ser65-to-thr (S65T) substitution but probably also caused a splicing defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9554750" 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="#36" class="mim-tip-reference" title="Lai, L.-W., Whitehair, O., Wu, M.-J., O'Meara, M., Lien, Y.-H. H. <strong>Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.</strong> Clin. Genet. 63: 476-482, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786754</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00077.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12786754">Lai et al. (2003)</a> demonstrated that the S65T mutation does not affect enzyme function. Instead it results in activation of a weak cryptic site 14 nucleotides downstream and results in an insertion of 14 bp and a frameshift stop at codon 106. This splicing abnormality was thought to be more consistent with the clinical presentation of the patient with classic Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786754" 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="0055" class="mim-anchor"></a>
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<strong>.0055 FABRY DISEASE</strong>
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GLA, TYR365TER
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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> rs104894849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894849;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/rs104894849?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=rs104894849" 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=rs104894849" 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=RCV000011514 OR RCV001781220" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011514, RCV001781220" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011514...</a>
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<p>In affected members of a family with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#43" class="mim-tip-reference" title="Miyamura, N., Araki, E., Matsuda, K., Yoshimura, R., Furukawa, N., Tsuruzoe, K., Shirotani, T., Kishikawa, H., Yamaguchi, K., Shichiri, M. <strong>A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain: increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.</strong> J. Clin. Invest. 98: 1809-1817, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8878432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8878432</a>] [<a href="https://doi.org/10.1172/JCI118981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8878432">Miyamura et al. (1996)</a> identified a mutation in the GLA gene, resulting in a tyr365-to-ter (Y365X) substitution and truncation of the C terminus by 65 amino acid residues. In a heterozygote of this family, although the mutant and normal alleles were equally transcribed in cultured fibroblasts, lymphocyte alpha-galactosidase A activity was approximately 30% of the normal control, and severe clinical symptoms were apparent. COS-1 cells transfected with this mutant cDNA showed a complete loss of its enzymatic activity. Furthermore, cells cotransfected with mutant and wildtype cDNAs showed approximately 30% of the enzyme activity of those with wildtype alone, which suggested a dominant-negative effect of this mutation and implied the importance of the C terminus for its activity. Generating mutant cDNAs with various deletions of the C terminus, <a href="#43" class="mim-tip-reference" title="Miyamura, N., Araki, E., Matsuda, K., Yoshimura, R., Furukawa, N., Tsuruzoe, K., Shirotani, T., Kishikawa, H., Yamaguchi, K., Shichiri, M. <strong>A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain: increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.</strong> J. Clin. Invest. 98: 1809-1817, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8878432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8878432</a>] [<a href="https://doi.org/10.1172/JCI118981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8878432">Miyamura et al. (1996)</a> found that enzyme activity was enhanced up to 6-fold compared with wildtype when 2 to 10 amino acid residues were deleted. In contrast, deletion of 12 or more amino acid residues resulted in a complete loss of enzyme activity. These data suggested that the C-terminal region of the GLA protein plays an important role in the regulation its enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8878432" 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="0056" class="mim-anchor"></a>
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<strong>.0056 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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GLA, IVS4AS, G-A, -4
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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> rs199473684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199473684;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/rs199473684?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=rs199473684" 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=rs199473684" 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=RCV000011515 OR RCV000154318 OR RCV000728949 OR RCV000769537 OR RCV000844706 OR RCV002362578 OR RCV004752698" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011515, RCV000154318, RCV000728949, RCV000769537, RCV000844706, RCV002362578, RCV004752698" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011515...</a>
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<p>This variant, previously titled FABRY DISEASE, CARDIAC VARIANT, has been reclassified based on the findings of <a href="#10" class="mim-tip-reference" title="Chiang, H.-L., Wang, N. H.-H., Song, I.-W., Chang, C.-P., Wen, M.-S., Chien, Y.-H., Hwu, W.-L., Tsai, F.-J., Chen, Y.-T., Wu, J.-Y. <strong>Genetic epidemiological study doesn't support GLA IVS4+919G-A variant is (sic) a significant mutation in Fabry disease.</strong> Molec. Genet. Metab. 121: 22-27, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28377241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28377241</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28377241">Chiang et al. (2017)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28377241" 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>During the course of mutation analysis of a patient with the cardiac form of Fabry disease (see <a href="/entry/301500">301500</a>) who had residual enzyme activity 9.1% of normal, <a href="#28" class="mim-tip-reference" title="Ishii, S., Nakao, S., Minamikawa-Tachino, R., Desnick, R. J., Fan, J.-Q. <strong>Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.</strong> Am. J. Hum. Genet. 70: 994-1002, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11828341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11828341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11828341[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/10.1086/339431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11828341">Ishii et al. (2002)</a> were unable to identify any mutation in the exonic or flanking intronic regions of the GLA gene. By RT-PCR of the RNA and direct sequencing of the RT-PCR product, they found an insertion between exons 4 and 5. To characterize further the abnormal splicing, they sequenced intron 4 (nucleotides 8413-10130) of the GLA gene and identified a G-to-A transition at nucleotide 9331 (IVS4+919G-A). This change was not found in 100 unaffected Japanese males. The mutation in the middle of the intron increased the recognition of a normally weak splice site, resulting in the insertion of an additional sequence into the GLA transcript and leading to the cardiac phenotype of Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11828341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Chiang, H.-L., Wang, N. H.-H., Song, I.-W., Chang, C.-P., Wen, M.-S., Chien, Y.-H., Hwu, W.-L., Tsai, F.-J., Chen, Y.-T., Wu, J.-Y. <strong>Genetic epidemiological study doesn't support GLA IVS4+919G-A variant is (sic) a significant mutation in Fabry disease.</strong> Molec. Genet. Metab. 121: 22-27, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28377241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28377241</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28377241">Chiang et al. (2017)</a> screened for the IVS4+919G-A variant in the Taiwanese population, including 3,268 controls, 3,949 patients from a type 2 diabetes cohort, and 649 patients from heart disease cohorts (heart failure, atrial fibrillation, ventricular tachycardia, and coronary artery disease). In the control sample, 4 males and 2 females carried the variant and only 1 male, who reportedly had a history of heavy smoking and drinking, had heart disease; none of 80 controls who reportedly had cardiomyopathy carried the variant. In the diabetes cohort, 1 of 11 patients who carried the variant had overt heart disease. Among the heart disease cohorts, only 1 patient carried the variant. The authors found that the incidence of the variant in their population was 1/409. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28377241" 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>.0057 FABRY DISEASE</strong>
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GLA, ALA143PRO
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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> rs104894845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894845;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/rs104894845?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=rs104894845" 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=rs104894845" 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=RCV000011516 OR RCV000157890" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011516, RCV000157890" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011516...</a>
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<p>In 4 unrelated patients of Nova Scotian ancestry with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#5" class="mim-tip-reference" title="Branton, M. H., Schiffmann, R., Sabnis, S. G., Murray, G. J., Quirk, J. M., Altarescu, G., Goldfarb, L., Brady, R. O., Balow, J. E., Austin, H. A., III, Kopp, J. B. <strong>Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.</strong> Medicine 81: 122-138, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889412</a>] [<a href="https://doi.org/10.1097/00005792-200203000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889412">Branton et al. (2002)</a> found an ala143-to-pro (A143P) missense mutation in exon 3 of the GLA gene. Three of the patients were French Acadian; the fourth had a Greek surname but may also have been of French Acadian ancestry (<a href="#33" class="mim-tip-reference" title="Kopp, J. B. <strong>Personal Communication.</strong> Bethesda, Md. 2/20/2002."None>Kopp, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889412" 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>.0058 FABRY DISEASE</strong>
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GLA, TYR222TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894851 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894851;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=rs104894851" 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=rs104894851" 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=RCV000011517 OR RCV000730382" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011517, RCV000730382" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011517...</a>
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<p>In affected members of a Chinese family with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#56" class="mim-tip-reference" title="Yang, C.-C., Lai, L.-W., Whitehair, O., Hwu, W.-L., Chiang, S.-C., Lien, Y.-H. H. <strong>Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.</strong> Clin. Genet. 63: 205-209, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694230</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00050.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694230">Yang et al. (2003)</a> identified a nonsense mutation in the GLA gene, a C-to-A transversion resulting in a tyr222-to-ter (Y222X) substitution. The genotype was associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12694230" 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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GLA, THR410ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894852;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=rs104894852" 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=rs104894852" 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=RCV000011518" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011518" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011518</a>
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<p>In affected members of a Chinese family with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#56" class="mim-tip-reference" title="Yang, C.-C., Lai, L.-W., Whitehair, O., Hwu, W.-L., Chiang, S.-C., Lien, Y.-H. H. <strong>Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.</strong> Clin. Genet. 63: 205-209, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694230</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00050.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694230">Yang et al. (2003)</a> identified an A-to-G transition in the GLA gene, resulting in a thr410-to-ala (T410A) substitution. The T410A mutation was associated with a milder form of Fabry disease, with ventricular hypertrophy and neuropathic pain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12694230" 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>.0060 FABRY DISEASE</strong>
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GLA, 2-BP DEL, 1277AA
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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> rs869312249 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312249;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/rs869312249?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=rs869312249" 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=rs869312249" 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=RCV000011519 OR RCV001781221" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011519, RCV001781221" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011519...</a>
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<p>In a patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#58" class="mim-tip-reference" title="Yasuda, M., Shabbeer, J., Osawa, M., Desnick, R. J. <strong>Fabry disease: novel alpha-galactosidase A 3-prime-terminal mutations result in multiple transcripts due to aberrant 3-prime-end formation.</strong> Am. J. Hum. Genet. 73: 162-173, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796853</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12796853[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/10.1086/376608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796853">Yasuda et al. (2003)</a> identified a 2-bp deletion, 1277delAA, causing a frameshift, in the GLA gene. The patient was a 51-year-old Swedish man who had onset of acroparesthesias at 10 years of age and subsequently had gastrointestinal manifestations, including abdominal pain and chronic diarrhea. He developed hypertrophic cardiomyopathy and, because of atrial ventricular block, required a pacemaker. His renal function was normal, with only a trace of urinary protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796853" 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>.0061 FABRY DISEASE</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">rs869312250 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312250;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=rs869312250" 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=rs869312250" 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=RCV000011520" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011520" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011520</a>
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<p>In a patient with classic Fabry disease (<a href="/entry/301500">301500</a>), <a href="#58" class="mim-tip-reference" title="Yasuda, M., Shabbeer, J., Osawa, M., Desnick, R. J. <strong>Fabry disease: novel alpha-galactosidase A 3-prime-terminal mutations result in multiple transcripts due to aberrant 3-prime-end formation.</strong> Am. J. Hum. Genet. 73: 162-173, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796853</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12796853[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/10.1086/376608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796853">Yasuda et al. (2003)</a> identified a 4-bp deletion, 1284delACTT, in the GLA gene. The patient was a 51-year-old Brazilian man who had childhood onset of acroparesthesias, angiokeratoma, hypohidrosis, and corneal opacities. He had microalbuminuria, which may have been secondary to his diabetes mellitus, but retained normal renal function. He had no evidence of cardiac or cerebral involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12796853" 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>.0062 FABRY DISEASE</strong>
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GLA, ASN272SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28935495 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935495;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=rs28935495" 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=rs28935495" 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=RCV000011521" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011521" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011521</a>
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<p>In affected members of a Slovenian family with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#54" class="mim-tip-reference" title="Verovnik, F., Benko, D., Vujkovac, B., Linthorst, G. E. <strong>Remarkable variability in renal disease in a large Slovenian family with Fabry disease.</strong> Europ. J. Hum. Genet. 12: 678-681, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15162124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15162124</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15162124">Verovnik et al. (2004)</a> identified a 10523A-G transition in exon 6 of the GLA gene, resulting in an asn272-to-ser (N272S) substitution. The 7 affected males, including a set of twins, showed decreased to absent alpha-galactosidase activity and had symptoms of classic Fabry disease, but there was considerable variability in their organ involvement, particularly renal: 3 were on dialysis, but 4 had only mild to moderate proteinuria. The 10 affected females had much milder symptoms, with no renal failure, severe cardiac disease, or stroke. <a href="#54" class="mim-tip-reference" title="Verovnik, F., Benko, D., Vujkovac, B., Linthorst, G. E. <strong>Remarkable variability in renal disease in a large Slovenian family with Fabry disease.</strong> Europ. J. Hum. Genet. 12: 678-681, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15162124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15162124</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15162124">Verovnik et al. (2004)</a> stated that this was the first reported Slovenian family with Fabry disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15162124" 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>.0063 FABRY DISEASE, CARDIAC VARIANT</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">rs869312142 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312142;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=rs869312142" 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=rs869312142" 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=RCV000991314 OR RCV001636724 OR RCV001781617 OR RCV002453751" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000991314, RCV001636724, RCV001781617, RCV002453751" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000991314...</a>
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<p>In 11 symptomatic Portuguese males from 10 families and in 2 Italian males identified by newborn screening with Fabry disease (<a href="/entry/301500">301500</a>), <a href="#50" class="mim-tip-reference" title="Oliveira, J. P., Nowak, A., Barbey, F., Torres, M., Nunes, J. P., Teixeira-e-Costa, F., Carvalho, F., Sampaio, S., Tavares, I., Pereira, O., Soares, A. L., Carmona, C, Cardoso, M.-T., Jurca-Simina, I. E., Spada, M., Ferreira, S., Germain, D. P. <strong>Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: natural history in males.</strong> Europ. J. Med. Genet. 63: 103703, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31200018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31200018</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.103703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31200018">Oliveira et al. (2020)</a> identified hemizygosity for a c.337T-C transition (c.337T-C, NM_000169.2) in the GLA gene, resulting in a phe113-to-leu (F113L) substitution. The mutation was identified by Sanger sequencing of the GLA gene or by next-generation sequencing of a multigene panel testing for hypertrophic cardiomyopathy. The symptomatic men had a late-onset cardiac phenotype. Microsatellite analysis showed that all of the alleles were on the same GLA haplotype, suggesting inheritance from a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31200018" 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="#Eng1994" class="mim-tip-reference" title="Eng, C. M., Desnick, R. J. <strong>Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.</strong> Hum. Mutat. 3: 103-111, 1994.">Eng and Desnick (1994)</a>; <a href="#Hasholt1990" class="mim-tip-reference" title="Hasholt, L., Sorensen, S. A., Wandall, A., Andersen, E. B., Arlien-Soborg, P. <strong>A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.</strong> J. Med. Genet. 27: 303-306, 1990.">Hasholt et al. (1990)</a>; <a href="#Hasholt1986" class="mim-tip-reference" title="Hasholt, L., Sorensen, S. A. <strong>Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins.</strong> Hum. Genet. 72: 72-76, 1986.">Hasholt and Sorensen
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(1986)</a>; <a href="#O'Brien1980" class="mim-tip-reference" title="O'Brien, S. J. <strong>The extent and character of biochemical genetic variation in the domestic cat.</strong> J. Hered. 71: 2-8, 1980.">O'Brien (1980)</a>
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Azevedo, O., Gal, A., Faria, R., Gaspar, P., Miltenberger-Miltenyi, G., Gago, M. F., Dias, F., Martins, A., Rodrigues, J., Reimao, P., Pereira, O., Simoes, S., Lopes, E., Guimaraes, M. J., Sousa, N., Cunha, D.
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<strong>Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype.</strong>
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Molec. Genet. Metab. 129: 150-160, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31519519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31519519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31519519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2019.07.012" target="_blank">Full Text</a>]
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Bernstein, H. S., Bishop, D. F., Astrin, K. H., Kornreich, R., Eng, C. M., Sakuraba, H., Desnick, R. J.
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<strong>Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.</strong>
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J. Clin. Invest. 83: 1390-1399, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2539398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114027" target="_blank">Full Text</a>]
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Bishop, D. F., Calhoun, D. H., Bernstein, H. S., Hantzopoulos, P., Quinn, M., Desnick, R. J.
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<strong>Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.</strong>
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Proc. Nat. Acad. Sci. 83: 4859-4863, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3014515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3014515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3014515" 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/10.1073/pnas.83.13.4859" target="_blank">Full Text</a>]
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Bishop, D. F., Kornreich, R., Desnick, R. J.
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<strong>Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3-prime untranslated region.</strong>
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Proc. Nat. Acad. Sci. 85: 3903-3907, 1988.
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[<a href="https://doi.org/10.1016/j.ymgme.2017.03.005" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1753437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1753437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1753437" 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/BF01910542" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 10/20/2022
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Hilary J. Vernon - updated : 09/09/2021<br>Ada Hamosh - updated : 06/15/2017<br>Cassandra L. Kniffin - updated : 12/5/2013<br>Cassandra L. Kniffin - updated : 11/1/2010
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Creation Date:
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Cassandra L. Kniffin : 3/21/2007
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alopez : 10/23/2024
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carol : 10/24/2022<br>carol : 10/20/2022<br>carol : 09/22/2022<br>carol : 04/22/2022<br>carol : 09/09/2021<br>mgross : 03/29/2018<br>carol : 06/16/2017<br>carol : 06/15/2017<br>carol : 10/17/2016<br>carol : 12/18/2013<br>ckniffin : 12/5/2013<br>wwang : 12/8/2010<br>ckniffin : 11/1/2010<br>wwang : 9/2/2009<br>terry : 12/17/2007<br>terry : 8/6/2007<br>wwang : 4/3/2007<br>ckniffin : 3/29/2007<br>carol : 3/28/2007<br>carol : 3/28/2007<br>ckniffin : 3/23/2007<br>ckniffin : 3/23/2007
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<strong>*</strong> 300644
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GALACTOSIDASE, ALPHA; GLA
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<em>Alternative titles; symbols</em>
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ALPHA-GALACTOSIDASE A; GALA
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<strong><em>HGNC Approved Gene Symbol: GLA</em></strong>
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<strong>SNOMEDCT:</strong> 124464003, 16652001;
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<strong>ICD10CM:</strong> E75.21;
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Cytogenetic location: Xq22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:101,397,803-101,407,925 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq22.1
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Fabry disease
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301500
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X-linked
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3
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Fabry disease, cardiac variant
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<span class="mim-font">
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301500
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X-linked
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The GLA gene encodes alpha-galactosidase (GLA; EC 3.2.1.22), a lysosomal hydrolase.</p>
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<strong>Cloning and Expression</strong>
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<p>Calhoun et al. (1985) isolated clones corresponding to the GLA gene from a human liver cDNA library. The 370-amino acid protein has a molecular mass of 41.4 kD. The mature active enzyme is a homodimeric protein. </p><p>Bishop et al. (1986) isolated GLA cDNA clones and found an open reading frame of 398 residues with a molecular mass of 45.4 kD. RNA transfer hybridization analysis detected a 1.45-kb transcript. Bishop et al. (1988) determined that the GLA gene lacks a 3-prime untranslated sequence, with the polyadenylation signal included in the coding region. Kornreich et al. (1989) presented the complete nucleotide sequence of the GLA gene. </p><p>Using RT-PCR amplification of genomic GLA DNA isolated from normal individuals, Novo et al. (1995) found that a subset of RNA molecules had a 1187U-A conversion which differed from the wildtype cDNA sequence. Multiple genes, pseudogenes, or allelic variants were excluded. Novo et al. (1995) proposed RNA editing as a mechanism responsible for this base change in the GLA RNA, similar to that which has been demonstrated for the nuclear encoded RNA for intestinal apoB (107730) and several subunits of brain L-glutamate receptors such as GLUR2 (138247), GLUR5 (138245), and GLUR6 (138244). </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Bishop et al. (1988) determined that the GLA gene contains 7 exons and spans about 12 kb. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>The GLA gene was localized to the X chromosome using cell hybridization techniques (Grzeschik, 1972).</p><p>From study of radiation-induced segregants in which irradiated human cells are rescued by fusion with hamster cells, Goss and Harris (1977) showed that the order of the following 4 loci on Xq is PGK--alpha-GAL--HPRT--G6PD and that the 3 intervals between these 4 loci are, in relative terms, 0.33, 0.30, and 0.23. </p><p>Lusis and West (1976) reported X-linked inheritance of the Gla gene in the mouse. Alpha-GAL, HPRT, PGK and G6PD are X-linked in the rabbit, according to mouse-rabbit hybrid cell studies (Cianfriglia et al., 1979; Echard and Gillois, 1979). By comparable methods, Hors-Cayla et al. (1979) found them to be X-linked also in cattle. Francke and Taggart (1979) assigned HPRT and alpha-GAL to the X chromosome in the Chinese hamster by study of mouse-Chinese hamster hybrid cells. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Davies et al. (1993) demonstrated 3 polymorphic variants in the first exon of the GLA gene, which contains 60 bp of 5-prime untranslated sequence before the methionine initiation codon. Such a high level of polymorphism had not previously been reported and was unusual in such a short stretch of DNA. </p><p>In a patient with Fabry disease (301500), Bernstein et al. (1989) identified a mutation in the GLA gene (300644.0001). The substitution altered the enzyme's kinetic properties and stability. </p><p>Eng et al. (1993) identified 18 different mutations in the GLA gene (see, e.g., 300644.0012; 300644.0013; 300644.0018-300644.0022) in patients with Fabry disease. </p><p>Lai et al. (2003) pointed out that most of the mutations in the GLA gene were identified in Fabry disease patients by genomic sequencing only, and therefore some of the splicing mutations were misclassified as missense mutations. To predict splicing events caused by specific mutations, they conducted a literature search for all published GLA mutations located near splice sites, including exonic point mutations, and performed a splice site score (SSS) analysis. They found 13 donor site mutations, 6 acceptor site mutations, and 1 new exon creation. All mutated splice sites, except for the 1 associated with new exon creation, had a lower SSS than their respective natural sites. </p><p>Yasuda et al. (2003) noted that the human GLA gene is one of the rare mammalian genes that has its polyadenylation signal in the coding sequence and lacks a 3-prime untranslated region. In 2 unrelated men with classic Fabry disease, they identified 2 novel frameshift mutations, 1277delAA (300644.0060) and 1284delACTT (300644.0061), which occurred in the 3-prime terminus of the coding region and obliterated the termination codon; the 2-bp deletion also altered the polyadenylation signal. Both mutations generated multiple transcripts of various lengths of 3-prime terminal sequences, some elongated by approximately 1 kb. Northern blot analysis suggested that mRNA degradation did not occur. </p><p><strong><em>Splicing Patterns</em></strong></p><p>
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In the context of examining splice site mutations in the GLA gene, Lai et al. (2003) discussed the 5 major aberrant splicing patterns caused by mutations in general: exon skipping, cryptic site activation, new site creation, intron retention, and disruption of exonic splicing enhancers (Nakai and Sakamoto, 1994; Cooper and Mattox, 1997). The selection of splicing patterns is based on many factors. When no strong cryptic site or newly created site is available, destruction of either the donor or acceptor splice site causes skipping of the neighboring exon. Cryptic splice sites are normally silent consensus sites that are activated when the authentic site is destroyed by mutation. In general, the distance between the authentic site and the cryptic site is about 100 nucleotides long. Mutations also can result in the creation of a new splice site, which may or may not be associated with destruction of the authentic site. If the authentic site is not altered, the new splice site is always in the upstream region of the authentic site. Intron retention occurs infrequently and sometimes simultaneously with other splicing patterns. Cis element exonic splicing enhancers (ESE) also have a role in the regulation of splicing. See the report of Liu et al. (2001) showing that disruption of an exonic splicing enhancer resulted in missplicing of exon 18 in the BRCA1 gene (113705). Similar mechanisms may explain why many exonic missense or nonsense mutations that are not located at splice sites are associated with exon skipping. </p>
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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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<p>Using the x-ray crystal structure of human alpha-galactosidase reported by Garman and Garboczi (2004), Matsuzawa et al. (2005) performed computerized 3-dimensional structural analysis of the mutant enzyme resulting from 161 missense mutations in the GLA gene causing Fabry disease. Mutations resulting in the severe classic phenotype showed a wide distribution in the number of atoms affected by the mutation, but the majority (82%) had 3 or more affected atoms in the main chain of the protein. Nineteen classic mutations affected the active site or the substrate-binding site of the enzyme. By contrast, 85% of mutations resulting in the milder variant phenotype had less than 3 atoms influenced in the main chain, and none of the variant mutations affected the active site. These results suggested that variant Fabry mutations cause small changes that do not affect the whole protein structure. </p><p>Matsuzawa et al. (2005) performed further analysis of 11 specific mutations in the GLA gene, which the authors subdivided into 4 groups according to the clinical and biochemical phenotypes of Fabry disease: classic with a completely dysfunctional and ineffective protein; classic with an unstable and ineffective protein; classic with an unstable but moderately effective protein; and variant with an unstable but effective protein. In particular, the G328R (300644.0010) mutation, which results in an unstable, ineffective protein, had 77 and 53 affected atoms in the main and side chains, respectively. The variant mutations Q279E (300644.0008) and M296I (300644.0051) were located apart from the active site and affected less than 3 atoms each in the main chain. </p><p>In a Japanese patient with the cardiac variant of Fabry disease, Ishii et al. (1992) identified a mutation in the GLA gene (300644.0008) associated with residual GLA enzyme activity. The patient developed dyspnea and bradycardia for the first time at age 60 years and died of heart failure at age 64. He was found to have complete left bundle branch block associated with hypertrophy of the left ventricular wall and interventricular septum. He had no other signs or symptoms characteristic of Fabry disease except proteinuria, which was found after cardiac failure had developed. Myocardial biopsy had shown inclusion bodies on electron microscopic examination. A 39-year-old nephew was asymptomatic but showed a thick interventricular septum and left ventricular wall by echocardiography and magnetic resonance imaging. The mutation in this case, as in 2 other cases of the cardiac form (300644.0003, 300644.0005), was located in exon 6. </p><p>Oliveira et al. (2020) reported 11 symptomatic Portuguese males from 10 families with Fabry disease who had a hemizygous F113L (300644.0063) mutation in the GLA gene. All of the patients had a late-onset form of the disorder, manifesting with a cardiac phenotype invariably including cardiomyopathy/hypertrophic cardiomyopathy, and often including other features such as conduction defects, arrhythmias, and myocardial ischemia. Some patients also had cerebrovascular or kidney involvement, although the association with the GLA mutation was confounded by the presence of other risk factors (e.g., hypertension, diabetes, obesity). </p><p>In a population of 150 adults with hypertrophic cardiomyopathy in Guimaraes, Portugal, Azevedo et al. (2020) identified 25 patients with Fabry disease, 21 of whom were hemizygous or heterozygous for the F113L mutation in the GLA gene. Genealogy studies demonstrated a common ancestor in 17 of the 21 patients. Through pedigree analysis in these patients, Azevedo et al. (2020) identified 120 patients, including 47 males and 73 females, with Fabry disease due to the F113L mutation. The mean age at diagnosis was 46 years, which was similar in both genders. Left ventricular hypertrophy (LVH) was identified in 49 patients, with a male predominance, and most patients were diagnosed with LVH at or after 40 years of age. Albuminuria was identified in 36.1% of patients; however, renal insufficiency was rare and no patient progressed to dialysis. Acroparesthesias were more common in females (34.2% of females and 6.4% of males). Sensorineural hearing loss was more common in males (30.8% of females and 64.4% of males). Strokes and angiokeratomas were rare. Azevedo et al. (2020) concluded that the F113L mutation in the Guimaraes region of Portugal was associated with a cardiac-predominant, late-onset form of Fabry disease. </p>
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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>63 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 FABRY DISEASE</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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GLA, ARG356TRP
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<br />
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SNP: rs104894827,
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ClinVar: RCV000011459, RCV001781217, RCV003398483
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Fabry disease (301500), Bernstein et al. (1989) identified a 1066C-T transition in the GLA gene, resulting in an arg356-to-trp (R356W) substitution. The substitution altered the enzyme's kinetic properties and stability. </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 FABRY DISEASE</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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GLA, EX3DEL
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<br />
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SNP: rs2147477260, rs2147478154,
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ClinVar: RCV000011460
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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>Fukuhara et al. (1990) reported partial deletion of the GLA gene in a case of Fabry disease (301500). The deletion involved exon 3 and was associated with an A-to-C transversion. The 402-bp deletion was flanked by 6-bp direct repeat sequences. These structures may have promoted 'slipped mispairing' as the origin of the mutation in this family. </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 FABRY DISEASE, CARDIAC VARIANT</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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FABRY DISEASE, INCLUDED
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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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GLA, ARG301GLN
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<br />
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SNP: rs104894828,
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ClinVar: RCV000011461, RCV000011462, RCV000244581, RCV000723405, RCV000845380
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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 Fabry disease following an atypical clinical course characterized by late-onset cardiac involvement and significant residual GLA (see 301500), Sakuraba et al. (1990) identified a G-to-A transition in exon 6 of the GLA gene, resulting in an arg301-to-gln (R301Q) substitution. </p><p>Sawada et al. (1996) identified the R301Q substitution in a 45-year-old man who developed moderate proteinuria and was found to have the renal histologic findings of Fabry disease, together with a decrease in activity of alpha-galactosidase A in his plasma, urine, leukocytes, and skin fibroblasts. The mutation was inherited from his mother. The patient was unique in that he demonstrated only renal manifestations, whereas all other patients with atypical Fabry disease, including a case with the identical point mutation (Sakuraba et al., 1990), presented with cardiomyopathy. </p><p>Kase et al. (2000) characterized this mutant and another, Q279E (300644.0008), in a patient with the cardiac variant of Fabry disease. In contrast to patients with classic Fabry disease, who have no detectable alpha-galactosidase activity, patients with these variants have residual enzyme activity. Compared to normal control cells, fibroblasts from a patient with the Q279E mutation secreted only small amounts of alpha-galactosidase. The authors concluded that these 2 substitutions do not significantly affect enzymatic activity, but the mutant protein levels are decreased presumably in the endoplasmic reticulum of cells. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 FABRY DISEASE</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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GLA, TRP44TER
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<br />
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SNP: rs104894829,
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ClinVar: RCV000011463
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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 classic Fabry disease (301500) and no detectable alpha-galactosidase A activity, Sakuraba et al. (1990) found a G-to-A transition in exon 1 of the GLA gene, resulting in a trp44-to-ter (W44X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 FABRY DISEASE, CARDIAC VARIANT</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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GLA, MET296VAL
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<br />
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SNP: rs104894830,
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ClinVar: RCV000011464, RCV000179267, RCV001185735
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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 54-year-old man with the cardiac variant of Fabry disease (see 301500), von Scheidt et al. (1991) identified an 886A-G transition in exon 6 of the GLA gene, resulting in a met296-to-val (M296V) substitution. The patient had 'crescendo angina,' relieved by nitroglycerin, as well as electrocardiographic changes, but normal cardiac chamber size and normal systolic and diastolic function by echocardiogram. Cardiac catheterization showed no stenoses of the extramural coronary arteries. Diagnosis of Fabry disease was made by endomyocardial biopsy. Light-microscopic examination showed that approximately half the myocytes contained a centrally stored foamy material that stained metachromatically. By electron microscopy, typical myelin-figure-like concentric lamellar inclusions in lysosomes were observed. Most remarkably, the endothelial cells of the myocardial capillaries were not involved and no changes were observed in specimens of skeletal muscle, liver, rectum, and skin, including small blood vessels and nerves. </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>.0006 FABRY DISEASE</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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GLA, EX4DEL
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<br />
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SNP: rs869312287,
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ClinVar: RCV000011465
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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 11-year-old boy with Fabry disease (301500), Yokoi et al. (1991) identified a G-to-A transition at the 3-prime consensus sequence (splicing acceptor) of intron 3 of the GLA gene. The mutation resulted in deletion of exon 4 and a frameshift with appearance of a terminating codon in exon 5. </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>.0007 FABRY DISEASE</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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GLA, IVS6DS, G-T, +1
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<br />
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SNP: rs1603038103,
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ClinVar: RCV000011467
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 3 affected brothers from a Japanese family with Fabry disease (301500), Sakuraba et al. (1992) identified deletion of exon 6 due to a G-to-T transversion at the first nucleotide of the 5-prime splice site of intron 6 of the GLA gene. Sakuraba et al. (1992) stated that this was the first G-to-T transversion of a mammalian 5-prime splice site that consistently eliminated the preceding exon. Sakuraba et al. (1992) gave a tabulation of various mammalian 5-prime consensus splice site mutations that lead to exon skipping and in most cases use of cryptic splice sites. They pointed out that glycophorin B (GYPB; 617923) of the Ss blood group (111740) differs from glycophorin A (GYPA; 617922) of the MN blood group (111300) by 2 changes at the 5-prime splice site of intron 3 which presumably took place after duplication of the progenitor gene. As indicated in their Table 1, the gene for growth hormone-like (GH2; 139240) differs from that for growth hormone (GH1; 139250) by a G-to-A transition at position +1 of intron 2 in the duplicated gene (Chen et al., 1989). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0008 FABRY DISEASE, CARDIAC VARIANT</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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GLA, GLN279GLU
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<br />
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SNP: rs28935485,
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ClinVar: RCV000011468, RCV001781218
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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>Ishii et al. (1992) identified an 835C-G transversion in the GLA gene, resulting in a gln279-to-glu (Q279E) substitution, in a Japanese patient with the cardiac variant of Fabry disease (see 301500). The patient developed dyspnea and bradycardia for the first time at age 60 years and died of heart failure at age 64. He was found to have complete left bundle branch block associated with hypertrophy of the left ventricular wall and interventricular septum. He had no other signs or symptoms characteristic of Fabry disease except proteinuria, which was found after cardiac failure had developed. Myocardial biopsy had shown inclusion bodies on electron microscopic examination. A 39-year-old nephew was asymptomatic but showed a thick interventricular septum and left ventricular wall by echocardiography and magnetic resonance imaging. Both men had some residual alpha-galactosidase A activity. The mutation in this case, as in 2 other cases of the cardiac form (300644.0003, 300644.0005), was located in exon 6. On the other hand, the gly328-to-arg mutation, located at the 3-prime end of exon 6 was associated with classic features of Fabry disease (see 300644.0010). </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>.0009 FABRY DISEASE</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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GLA, PRO40SER
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<br />
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SNP: rs104894831,
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ClinVar: RCV000011466, RCV000729403
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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>Koide et al. (1990) described a pro40-to-ser (P40S) mutation in exon 1 of the GLA gene in a patient with Fabry disease (301500) and no detectable alpha-galactosidase A 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>
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<span class="mim-font">
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<strong>.0010 FABRY DISEASE</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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GLA, GLY328ARG
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<br />
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SNP: rs104894832,
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ClinVar: RCV000011469, RCV000723846
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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 34-year-old man with typical Fabry disease (301500), Ishii et al. (1992) identified a 982G-A transition in exon 6 of the GLA gene, resulting in a gly328-to-arg (G328R) substitution. This mutation was located at the 3-prime end of exon 6; mutations located at the central or 5-prime end of the exon were associated with the predominantly cardiac form of the disease. </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>.0011 FABRY DISEASE</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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GLA, GLU66GLN AND ARG112CYS
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<br />
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SNP: rs104894833, rs104894834,
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gnomAD: rs104894833,
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ClinVar: RCV000011470, RCV000150750, RCV000482440, RCV000728539, RCV000780291, RCV000822343, RCV002321570, RCV003162613, RCV004752756
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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 14-year-old boy with classic Fabry disease (301500), Ishii et al. (1992) found 2 point mutations in exon 2 of the GLA gene: a GAG-to-CAG change causing a glu66-to-gln (E66Q) substitution, and a CGC-to-TGC change causing an arg112-to-cys (R112C) substitution. </p><p>Lee et al. (2010) presented evidence that the E66Q variant is a functional polymorphism and not disease causing. Substantial residual GLA activity was shown both in the leukocytes of individuals carrying E66Q (19.0 to 30.3% of normal activity) and in transiently overexpressed COS-7 cells (43.8% of normal activity). Although the E66Q-variant GLA was unstable at neutral pH, the enzyme was efficiently expressed in the lysosomes of COS-7 cells. The allele frequency of E66Q determined in 833 unrelated Korean individuals was considered to be high at 1.046%. The variant was found in 5 individuals from 4 Korean families during a screen of patients with Fabry disease. Of the 5 patients carrying E66Q, only 1 patient had proteinuria, and 2 had hypertrophic cardiomyopathy without other signs of the disorder. Lee et al. (2010) suggested that either these patients had a different etiology for their features or that they had a very mild atypical variant of the disease with other genetic or environmental factors contributing to the phenotype. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 FABRY DISEASE</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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GLA, ASN34SER
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<br />
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SNP: rs104894835,
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ClinVar: RCV000011471, RCV000723530
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with classic Fabry disease (301500), Eng et al. (1993) found an A-to-G transition in exon 1 of the GLA gene, resulting in an asn34-to-ser (N34S) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0013 FABRY DISEASE</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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GLA, CYS56GLY
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<br />
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SNP: rs104894836,
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ClinVar: RCV000011472
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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 English patient with classic Fabry disease (301500), Eng et al. (1993) found a T-to-G transversion in exon 1 of the GLA gene, resulting in a cys56-to-gly (C56G) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, PRO146SER
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|
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|
<br />
|
|
|
|
SNP: rs104894837,
|
|
|
|
|
|
|
|
ClinVar: RCV000011473
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with mild Fabry disease (301500), deJong et al. (1993) found a C-to-T transition in exon 3 of the GLA gene, resulting in a pro146-to-ser (P146S) substitution.</p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ALA156THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935195,
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|
|
|
|
|
|
|
ClinVar: RCV000011474
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Danish patient with classic Fabry disease (301500), Madsen et al. (1993) found a G-to-A transition in exon 3 of the GLA gene, resulting in an ala156-to-thr (A156T) substitution.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, TRP162ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935196,
|
|
|
|
|
|
|
|
ClinVar: RCV000011475, RCV003137512
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with classic Fabry disease (301500), Eng et al. (1993) found a T-to-C transition in exon 3 of the GLA gene, resulting in a trp162-to-arg (W162R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, CYS202TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894838,
|
|
|
|
|
|
|
|
ClinVar: RCV000011476
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with classic Fabry disease (301500), deJong et al. (1993) found a T-to-G transversion in exon 4 of the GLA gene, resulting in a cys202-to-trp (C202W) substitution.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ASN215SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935197,
|
|
|
|
|
|
gnomAD: rs28935197,
|
|
|
|
|
|
ClinVar: RCV000011477, RCV000157896, RCV000618059, RCV000844705, RCV001798000
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Eng et al. (1993) and Davies et al. (1993) described an A-to-G transition in exon 5 of the GLA gene, resulting in an asn215-to-ser (N215S) substitution. The patients had mild forms of Fabry disease (301500) and residual enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ARG227GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894840,
|
|
|
|
|
|
|
|
ClinVar: RCV000011478, RCV000157898
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic Fabry disease (301500), Eng et al. (1993) described an G-to-A transition in exon 5 of the GLA gene, resulting in an arg227-to-gln (R227Q) substitution. This mutation conforms to the CG-to-TG mutation 'hotspot' rule. In the complementary, antisense strand, 5-prime--xxxCGAxxx--3-prime is read as 3-prime--xxxGCTxxx--5-prime. Methylation of the cytosine in the CpG of the antisense codon with subsequent deamidation converts the antisense codon to GTT, which corresponds to the sense codon CAA. Read 5-prime to 3-prime, the CG in the sense strand has been changed to TG in the antisense strand; hence, the designation CG-to-TG 'hotspot' rule. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ARG227TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894841,
|
|
|
|
|
|
|
|
ClinVar: RCV000011479, RCV000157897
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with Fabry disease (301500), Eng et al. (1993) and Davies et al. (1993) identified a C-to-T transition in exon 5 of the GLA gene, resulting in an arg227-to-ter (R227X) substitution. The mutation conforms to the CG-to-TG rule and has been found in more than 1 unrelated patient. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ASP264VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935486,
|
|
|
|
|
|
|
|
ClinVar: RCV000011480, RCV000724649
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Scottish/English patient with classic Fabry disease (301500), Eng et al. (1993) found an A-to-T transversion in exon 5 of the GLA gene, resulting in an asp264-to-val (D264V) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ASP266VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935487,
|
|
|
|
|
|
|
|
ClinVar: RCV000011481, RCV000733417
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an African American patient with classic Fabry disease (301500), Eng et al. (1993) found an A-to-T transversion in exon 5 of the GLA gene, resulting in an asp266-to-val (D266V) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, VAL269ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935488,
|
|
|
|
|
|
|
|
ClinVar: RCV000011482
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with classic Fabry disease (301500), Davies et al. (1993) found a GTG-to-GCG mutation in exon 6 of the GLA gene, resulting in a val269-to-ala (V269A) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, TRP287TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894839,
|
|
|
|
|
|
|
|
ClinVar: RCV000011483
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with classic Fabry disease (301500), Davies et al. (1993) found a TGG-to-TGA mutation in exon 6 of the GLA gene, resulting in a trp287-to-ter (W287X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, SER297PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935489,
|
|
|
|
|
|
|
|
ClinVar: RCV000011484
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with classic Fabry disease (301500), Eng et al. (1993) found a TCT-to-TTT mutation in exon 6 of the GLA gene, resulting in a ser297-to-phe (S297F) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ASP313TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935490,
|
|
|
|
|
|
gnomAD: rs28935490,
|
|
|
|
|
|
ClinVar: RCV000011486, RCV000035314, RCV000172895, RCV000250525, RCV000346926, RCV000487818, RCV000769536
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, formerly titled FABRY DISEASE, has been reclassified based on the findings of Yasuda et al. (2003). </p><p>In a German patient with classic Fabry disease (301500), Eng et al. (1993) found a GAT-to-TAT mutation in exon 6 of the GLA gene, resulting in an asp313-to-tyr (D313Y) substitution. </p><p>Yasuda et al. (2003) found that expression of the D313Y variant in COS-7 cells resulted in 60% residual enzyme activity and that the enzyme was localized to lysosomes. In addition, the D313Y variant was found in 0.45% of 883 normal X chromosomes. Molecular homology modeling showed that the D313Y variant did not markedly disrupt enzyme structure. The variant enzyme was stable at lysosomal pH (4.5), but had decreased activity at neutral pH (7.4). Overall, the findings suggested that the D313Y variant is a functional polymorphism rather than a disease-causing variant. </p><p>Lenders et al. (2013) noted that the possible pathogenicity of the D313Y variant is controversial. They reported a large family in which 9 females and 1 male carried a heterozygous D313Y mutation; one of the females with the variant was deceased. Seven of the 8 who underwent brain imaging had multifocal white matter lesions, including several young individuals without cardiovascular risk factors. The white matter lesions were primarily subcortical and punctate, but some also were confluent with a periventricular localization. Brain MRI in 2 family members who did not carry the D313Y variant showed no white matter lesions. GLA enzyme activities were normal in carrier leukocytes, but were decreased in plasma. Lyso-Gb3 levels in plasma, which are increased in patients with Fabry disease, were normal. The proband, who carried the D313Y variant, had a peripheral small-fiber neuropathy with decreased intraepithelial nerve fiber density on nerve biopsy. None of the variant carriers had other evidence of Fabry disease, but Lenders et al. (2013) postulated that the D313Y variant may act as a predisposing factor for neurologic manifestations. </p><p>Niemann et al. (2013) reported a father and daughter with the D313Y variant. The daughter presented with diffuse skin lesions and nonspecific arm pain. Plasma GLA enzyme activity was mildly decreased. Skin biopsy showed keratosis pilaris rubra atrophicans, but no Fabry angioma. Her 53-year-old father had no clinical manifestations of Fabry disease, although his plasma GLA enzyme activity was also decreased. Lyso-Gb3 was below normal in the daughter and undetectable in the father. Niemann et al. (2013) concluded that the D313Y variant is not clinically relevant for Fabry disease. The authors also suggested that pure assessment of GLA activity and even genetic testing is not sufficient for diagnosing Fabry disease. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, GLN327LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935491,
|
|
|
|
|
|
|
|
ClinVar: RCV000011487
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with classic Fabry disease (301500), Davies et al. (1993) found a CAA-to-AAA mutation in exon 6 of the GLA gene, resulting in a gln327-to-lys (Q327K) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
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|
<br />
|
|
</div>
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|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, GLY328ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935492,
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|
|
|
|
|
|
|
ClinVar: RCV000011488, RCV000723545
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Scottish/Irish patient with classic Fabry disease (301500), Eng et al. (1993) found a GGG-to-GCG mutation in exon 6 of the GLA gene, resulting in a gly328-to-ala (G328A) substitution. A different mutation has also been described in the same codon (see 300644.0010). </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
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|
GLA, TRP340TER
|
|
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|
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|
<br />
|
|
|
|
SNP: rs104894842,
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|
|
|
|
|
|
|
ClinVar: RCV000011489, RCV000727594
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an African American patient with classic Fabry disease (301500), Eng et al. (1993) found a nonsense TGG-to-TGA mutation in exon 7 of the GLA gene, resulting in a trp340-to-ter (W340X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ARG342GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935493,
|
|
|
|
|
|
|
|
ClinVar: RCV000011490, RCV000723455
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with classic Fabry disease (301500), deJong et al. (1993) found a CGA-to-CAA mutation in exon 7 of the GLA gene, resulting in an arg342-to-gln (R342Q) substitution. This mutation conforms to the CG-to-TG 'hotspot' rule.</p><p>Germain (2001) described a patient with Fabry disease due to the R342Q mutation who also had Klippel-Trenaunay-Weber syndrome (149000). The 30-year-old man had a complex vascular and cutaneous malformation. Skin examination showed numerous angiokeratomas, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk. The R342Q mutation was demonstrated in DNA extracted from fibroblast cultures established from both affected and unaffected skin areas, thus excluding the hypothesis of somatic mosaicism or revertant mosaicism. The patient had hypertrophy of the right leg, with dilated and varicose superficial veins. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ARG342TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894843,
|
|
|
|
|
|
|
|
ClinVar: RCV000011491, RCV000723730, RCV003398484
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Greek/English patient with classic Fabry disease (301500), Davies et al. (1993) found a CGA-to-TGA mutation in exon 7 of the GLA gene, resulting in an arg342-to-ter (R342X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, GLY361ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28935494,
|
|
|
|
|
|
|
|
ClinVar: RCV000011492
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with classic Fabry disease (301500), Davies et al. (1993) found a GGA-to-CGA mutation in exon 7 of the GLA gene, resulting in a gly361-to-arg (G361R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, GLU398TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894844,
|
|
|
|
|
|
gnomAD: rs104894844,
|
|
|
|
|
|
ClinVar: RCV000011493
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Hispanic patient with classic Fabry disease (301500), Eng et al. (1993) found a nonsense GAA-to-TAA mutation in exon 7 of the GLA gene, resulting in a glu398-to-ter (E398X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, IVSDS, GT-GG, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906483,
|
|
|
|
|
|
|
|
ClinVar: RCV000011485
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Sephardic Jewish patient with classic Fabry disease (301500), Eng et al. (1993) found a T-to-G mutation at nucleotide +2 of the donor splice site of intron 2 of the GLA gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, IVS5AS, DEL -2,-3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797044498,
|
|
|
|
|
|
|
|
ClinVar: RCV000153317, RCV001386713
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Irish patient with classic Fabry disease (301500), Eng et al. (1993) found a deletion of 2 nucleotides (-2 and -3) of the acceptor splice site of intron 5 of the GLA gene. The mutation is therefore tcag/exon 6 to tg/exon 6. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ALA143THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894845,
|
|
|
|
|
|
gnomAD: rs104894845,
|
|
|
|
|
|
ClinVar: RCV000011495, RCV000157242, RCV000211872, RCV000224064, RCV000618614, RCV000845429, RCV004752697
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old man with Fabry disease (301500), Nance et al. (2006) identified a G-to-A transition in the GLA gene, resulting in an ala143-to-thr (A143T) substitution. The patient had a 5-year history of progressive activity-induced leg and foot cramps and fasciculations with pain. No other stigmata of Fabry disease was present. His mother, who also carried the mutation, had a similar phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 13-BP DEL, NT125
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603047806,
|
|
|
|
|
|
|
|
ClinVar: RCV000011496
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with severe Fabry disease (301500), Ishii et al. (1991) identified a 13-bp deletion in exon 1 of the GLA gene. The deletion is flanked by a TGGG direct repeat. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 1-BP DEL, NT716
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011497
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with severe Fabry disease (301500), Davies et al. (1993) found a 1-bp deletion at nucleotide 716 in exon 5 of the GLA gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 2-BP DEL, NT773
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869312398,
|
|
|
|
|
|
|
|
ClinVar: RCV000011498
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Portuguese patient with severe Fabry disease (301500), Eng et al. (1993) found a 2-bp deletion at nucleotide 773 in exon 5 of the GLA gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 5-BP INS, NT954
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603038220,
|
|
|
|
|
|
|
|
ClinVar: RCV000011499
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German patient with severe Fabry disease (301500), Eng et al. (1993) found a 5-bp insertion starting at nucleotide 954 of exon 6 of the GLA gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 11-BP DEL, NT1016
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603037764,
|
|
|
|
|
|
|
|
ClinVar: RCV000011500
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German patient with severe Fabry disease (301500), Eng et al. (1993) found an 11-bp deletion starting at nucleotide 1016 of exon 7 of the GLA gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 1-BP INS, NT1040
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1928137855,
|
|
|
|
|
|
|
|
ClinVar: RCV000011501
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with severe Fabry disease (301500), deJong et al. (1993) found a 1-bp insertion at nucleotide 1040 of exon 7 of the GLA gene.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 FABRY DISEASE</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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|
GLA, 53-BP DEL, NT1123
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|
<br />
|
|
|
|
SNP: rs1603037323,
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|
|
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|
|
|
|
ClinVar: RCV000011502
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with severe Fabry disease (301500), Eng et al. (1993) found a 53-bp deletion starting at nucleotide 1123 of exon 7 of the GLA gene. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</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>.0044 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
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|
GLA, 2-BP DEL, NT1176
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<br />
|
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|
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ClinVar: RCV000011503
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch patient with severe Fabry disease (301500), deJong et al. (1993) found a 2-bp deletion at nucleotide 1176 of exon 7 of the GLA gene. The deletion had a 6-bp inverted repeat at the breakpoint junction.</p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
|
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</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 3-BP DEL, 1208AAG
|
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|
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|
<br />
|
|
|
|
SNP: rs869312241,
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|
|
|
|
|
|
|
ClinVar: RCV000011504, RCV001781219
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with moderate Fabry disease (301500), Eng et al. (1993) found a 3-bp deletion (1208delAAG) in exon 7 of the GLA gene, resulting in the deletion of arg405. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, EX1-2DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011505
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Slavic patient with severe Fabry disease (301500), Kornreich et al. (1990) found a 4.6-kb deletion that included exons 1 and 2 of the GLA gene. The deletion breakpoints had a CCA direct repeat suggesting a possible functional role of this short sequence in illegitimate recombination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, EX3-4DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011506
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Hispanic family with severe Fabry disease (301500), Kornreich et al. (1990) found a 3.2-kb deletion in the GLA gene that included exons 3 and 4. The 2 breakpoints occurred in Alu repetitive elements and Alu-Alu recombination is the probable mechanism of this deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, EX3-7DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with severe Fabry disease (301500), Kornreich et al. (1990) found a 4.5-kb deletion in the GLA gene that included exons 3 to 6 and a portion of exon 7. The deletion breakpoints had an AAG direct repeat suggesting a possible functional role of this short sequence in illegitimate recombination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, EX6-7DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011508
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Irish/German patient with severe Fabry disease (301500), Kornreich et al. (1990) found a deletion of 1.7 kb in the GLA gene that included exons 6 and 7. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0050 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, EX2-6DUP
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011509
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with severe Fabry disease (301500), Kornreich et al. (1990) found a duplication of 8.1 kb that included exons 2 to 5 and part of exon 6 of the GLA gene. The duplicated area was flanked by a TAGACA direct repeat. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0051 FABRY DISEASE, CARDIAC VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, MET296ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894846,
|
|
|
|
|
|
|
|
ClinVar: RCV000011510
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a study of left ventricular hypertrophy in Japan, Nakao et al. (1995) found 7 of 230 males (3%) with low plasma alpha-galactosidase activity but none of the typical manifestations of Fabry disease (see 301500), namely, angiokeratoma, acroparesthesias, hypohidrosis, or corneal opacities. One of the patients had a met296-to-ile (M296I) mutation in exon 6 of the GLA gene, whereas a second had an ala20-to-pro (A20P) mutation in exon 1 (300644.0052). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0052 FABRY DISEASE, CARDIAC VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ALA20PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894847,
|
|
|
|
|
|
|
|
ClinVar: RCV000011511
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 300644.0051 and Nakao et al. (1995). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0053 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, 3-BP DEL, PHE383DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1057519609,
|
|
|
|
|
|
|
|
ClinVar: RCV000011512
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Cariolou et al. (1996) described a novel trinucleotide deletion in the GLA gene in a Greek patient with Fabry disease (301500). This deletion led to loss of phenylalanine-383. The phenotype in this patient was unusual in that diffuse facial telangiectasia was present. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0054 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, SER65THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894848,
|
|
|
|
|
|
|
|
ClinVar: RCV000011513
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated Chinese patients with Fabry disease (301500), living in Taiwan, Chen et al. (1998) identified a G-to-C transversion in the last nucleotide of exon 1 of the GLA gene, which not only resulted in a ser65-to-thr (S65T) substitution but probably also caused a splicing defect. </p><p>Lai et al. (2003) demonstrated that the S65T mutation does not affect enzyme function. Instead it results in activation of a weak cryptic site 14 nucleotides downstream and results in an insertion of 14 bp and a frameshift stop at codon 106. This splicing abnormality was thought to be more consistent with the clinical presentation of the patient with classic Fabry disease. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0055 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, TYR365TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894849,
|
|
|
|
|
|
gnomAD: rs104894849,
|
|
|
|
|
|
ClinVar: RCV000011514, RCV001781220
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with Fabry disease (301500), Miyamura et al. (1996) identified a mutation in the GLA gene, resulting in a tyr365-to-ter (Y365X) substitution and truncation of the C terminus by 65 amino acid residues. In a heterozygote of this family, although the mutant and normal alleles were equally transcribed in cultured fibroblasts, lymphocyte alpha-galactosidase A activity was approximately 30% of the normal control, and severe clinical symptoms were apparent. COS-1 cells transfected with this mutant cDNA showed a complete loss of its enzymatic activity. Furthermore, cells cotransfected with mutant and wildtype cDNAs showed approximately 30% of the enzyme activity of those with wildtype alone, which suggested a dominant-negative effect of this mutation and implied the importance of the C terminus for its activity. Generating mutant cDNAs with various deletions of the C terminus, Miyamura et al. (1996) found that enzyme activity was enhanced up to 6-fold compared with wildtype when 2 to 10 amino acid residues were deleted. In contrast, deletion of 12 or more amino acid residues resulted in a complete loss of enzyme activity. These data suggested that the C-terminal region of the GLA protein plays an important role in the regulation its enzyme activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0056 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, IVS4AS, G-A, -4
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199473684,
|
|
|
|
|
|
gnomAD: rs199473684,
|
|
|
|
|
|
ClinVar: RCV000011515, RCV000154318, RCV000728949, RCV000769537, RCV000844706, RCV002362578, RCV004752698
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, previously titled FABRY DISEASE, CARDIAC VARIANT, has been reclassified based on the findings of Chiang et al. (2017). </p><p>During the course of mutation analysis of a patient with the cardiac form of Fabry disease (see 301500) who had residual enzyme activity 9.1% of normal, Ishii et al. (2002) were unable to identify any mutation in the exonic or flanking intronic regions of the GLA gene. By RT-PCR of the RNA and direct sequencing of the RT-PCR product, they found an insertion between exons 4 and 5. To characterize further the abnormal splicing, they sequenced intron 4 (nucleotides 8413-10130) of the GLA gene and identified a G-to-A transition at nucleotide 9331 (IVS4+919G-A). This change was not found in 100 unaffected Japanese males. The mutation in the middle of the intron increased the recognition of a normally weak splice site, resulting in the insertion of an additional sequence into the GLA transcript and leading to the cardiac phenotype of Fabry disease. </p><p>Chiang et al. (2017) screened for the IVS4+919G-A variant in the Taiwanese population, including 3,268 controls, 3,949 patients from a type 2 diabetes cohort, and 649 patients from heart disease cohorts (heart failure, atrial fibrillation, ventricular tachycardia, and coronary artery disease). In the control sample, 4 males and 2 females carried the variant and only 1 male, who reportedly had a history of heavy smoking and drinking, had heart disease; none of 80 controls who reportedly had cardiomyopathy carried the variant. In the diabetes cohort, 1 of 11 patients who carried the variant had overt heart disease. Among the heart disease cohorts, only 1 patient carried the variant. The authors found that the incidence of the variant in their population was 1/409. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0057 FABRY DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLA, ALA143PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894845,
|
|
|
|
|
|
gnomAD: rs104894845,
|
|
|
|
|
|
ClinVar: RCV000011516, RCV000157890
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
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<span class="mim-text-font">
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<p>In 4 unrelated patients of Nova Scotian ancestry with Fabry disease (301500), Branton et al. (2002) found an ala143-to-pro (A143P) missense mutation in exon 3 of the GLA gene. Three of the patients were French Acadian; the fourth had a Greek surname but may also have been of French Acadian ancestry (Kopp, 2002). </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>.0058 FABRY DISEASE</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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GLA, TYR222TER
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<br />
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SNP: rs104894851,
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ClinVar: RCV000011517, RCV000730382
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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 affected members of a Chinese family with Fabry disease (301500), Yang et al. (2003) identified a nonsense mutation in the GLA gene, a C-to-A transversion resulting in a tyr222-to-ter (Y222X) substitution. The genotype was associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity. </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>.0059 FABRY DISEASE</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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GLA, THR410ALA
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<br />
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SNP: rs104894852,
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ClinVar: RCV000011518
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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 affected members of a Chinese family with Fabry disease (301500), Yang et al. (2003) identified an A-to-G transition in the GLA gene, resulting in a thr410-to-ala (T410A) substitution. The T410A mutation was associated with a milder form of Fabry disease, with ventricular hypertrophy and neuropathic pain. </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>.0060 FABRY DISEASE</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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GLA, 2-BP DEL, 1277AA
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<br />
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SNP: rs869312249,
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gnomAD: rs869312249,
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ClinVar: RCV000011519, RCV001781221
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with classic Fabry disease (301500), Yasuda et al. (2003) identified a 2-bp deletion, 1277delAA, causing a frameshift, in the GLA gene. The patient was a 51-year-old Swedish man who had onset of acroparesthesias at 10 years of age and subsequently had gastrointestinal manifestations, including abdominal pain and chronic diarrhea. He developed hypertrophic cardiomyopathy and, because of atrial ventricular block, required a pacemaker. His renal function was normal, with only a trace of urinary protein. </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>.0061 FABRY DISEASE</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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GLA, 4-BP DEL, 1284ACTT
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<br />
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SNP: rs869312250,
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ClinVar: RCV000011520
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with classic Fabry disease (301500), Yasuda et al. (2003) identified a 4-bp deletion, 1284delACTT, in the GLA gene. The patient was a 51-year-old Brazilian man who had childhood onset of acroparesthesias, angiokeratoma, hypohidrosis, and corneal opacities. He had microalbuminuria, which may have been secondary to his diabetes mellitus, but retained normal renal function. He had no evidence of cardiac or cerebral involvement. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0062 FABRY DISEASE</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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GLA, ASN272SER
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<br />
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SNP: rs28935495,
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ClinVar: RCV000011521
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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 affected members of a Slovenian family with Fabry disease (301500), Verovnik et al. (2004) identified a 10523A-G transition in exon 6 of the GLA gene, resulting in an asn272-to-ser (N272S) substitution. The 7 affected males, including a set of twins, showed decreased to absent alpha-galactosidase activity and had symptoms of classic Fabry disease, but there was considerable variability in their organ involvement, particularly renal: 3 were on dialysis, but 4 had only mild to moderate proteinuria. The 10 affected females had much milder symptoms, with no renal failure, severe cardiac disease, or stroke. Verovnik et al. (2004) stated that this was the first reported Slovenian family with Fabry disease. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0063 FABRY DISEASE, CARDIAC VARIANT</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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GLA, PHE113LEU
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<br />
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SNP: rs869312142,
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|
|
ClinVar: RCV000991314, RCV001636724, RCV001781617, RCV002453751
|
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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 11 symptomatic Portuguese males from 10 families and in 2 Italian males identified by newborn screening with Fabry disease (301500), Oliveira et al. (2020) identified hemizygosity for a c.337T-C transition (c.337T-C, NM_000169.2) in the GLA gene, resulting in a phe113-to-leu (F113L) substitution. The mutation was identified by Sanger sequencing of the GLA gene or by next-generation sequencing of a multigene panel testing for hypertrophic cardiomyopathy. The symptomatic men had a late-onset cardiac phenotype. Microsatellite analysis showed that all of the alleles were on the same GLA haplotype, suggesting inheritance from a common ancestor. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Eng and Desnick (1994); Hasholt et al. (1990); Hasholt and Sorensen
|
|
(1986); O'Brien (1980)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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<p class="mim-text-font">
|
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Azevedo, O., Gal, A., Faria, R., Gaspar, P., Miltenberger-Miltenyi, G., Gago, M. F., Dias, F., Martins, A., Rodrigues, J., Reimao, P., Pereira, O., Simoes, S., Lopes, E., Guimaraes, M. J., Sousa, N., Cunha, D.
|
|
<strong>Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype.</strong>
|
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Molec. Genet. Metab. 129: 150-160, 2020.
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[PubMed: 31519519]
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[Full Text: https://doi.org/10.1016/j.ymgme.2019.07.012]
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|
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Bernstein, H. S., Bishop, D. F., Astrin, K. H., Kornreich, R., Eng, C. M., Sakuraba, H., Desnick, R. J.
|
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<strong>Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.</strong>
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J. Clin. Invest. 83: 1390-1399, 1989.
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[PubMed: 2539398]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Bishop, D. F., Calhoun, D. H., Bernstein, H. S., Hantzopoulos, P., Quinn, M., Desnick, R. J.
|
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<strong>Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.</strong>
|
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Proc. Nat. Acad. Sci. 83: 4859-4863, 1986.
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[PubMed: 3014515]
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<p class="mim-text-font">
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Bishop, D. F., Kornreich, R., Desnick, R. J.
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<strong>Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3-prime untranslated region.</strong>
|
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Proc. Nat. Acad. Sci. 85: 3903-3907, 1988.
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[PubMed: 2836863]
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[Full Text: https://doi.org/10.1073/pnas.85.11.3903]
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Branton, M. H., Schiffmann, R., Sabnis, S. G., Murray, G. J., Quirk, J. M., Altarescu, G., Goldfarb, L., Brady, R. O., Balow, J. E., Austin, H. A., III, Kopp, J. B.
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<strong>Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.</strong>
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Medicine 81: 122-138, 2002.
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[PubMed: 11889412]
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[Full Text: https://doi.org/10.1097/00005792-200203000-00003]
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<p class="mim-text-font">
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Calhoun, D. H., Bishop, D. F., Bernstein, H. S., Quinn, M., Hantzopoulos, P., Desnick, R. J.
|
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<strong>Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.</strong>
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Proc. Nat. Acad. Sci. 82: 7364-7368, 1985.
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[PubMed: 2997789]
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[Full Text: https://doi.org/10.1073/pnas.82.21.7364]
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</p>
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</li>
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<p class="mim-text-font">
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Cariolou, M. A., Christodoulides, M., Manoli, P., Kokkofitou, A., Tsambaos, D.
|
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<strong>Novel trinucleotide deletion in Fabry's disease.</strong>
|
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Hum. Genet. 97: 468-470, 1996.
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[PubMed: 8834244]
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[Full Text: https://doi.org/10.1007/BF02267068]
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</p>
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<p class="mim-text-font">
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Chen, C.-H., Shyu, P.-W., Wu, S.-J., Sheu, S.-S., Desnick, R. J., Hsiao, K.-J.
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<strong>Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.</strong>
|
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Hum. Mutat. 11: 328-330, 1998.
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[PubMed: 9554750]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Chen, E. Y., Liao, Y.-C., Smith, D. H., Barrera-Saldana, H. A., Gelinas, R. E., Seeburg, P. H.
|
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<strong>The human growth hormone locus: nucleotide sequence, biology, and evolution.</strong>
|
|
Genomics 4: 479-497, 1989.
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[PubMed: 2744760]
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[Full Text: https://doi.org/10.1016/0888-7543(89)90271-1]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chiang, H.-L., Wang, N. H.-H., Song, I.-W., Chang, C.-P., Wen, M.-S., Chien, Y.-H., Hwu, W.-L., Tsai, F.-J., Chen, Y.-T., Wu, J.-Y.
|
|
<strong>Genetic epidemiological study doesn't support GLA IVS4+919G-A variant is (sic) a significant mutation in Fabry disease.</strong>
|
|
Molec. Genet. Metab. 121: 22-27, 2017.
|
|
|
|
|
|
[PubMed: 28377241]
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[Full Text: https://doi.org/10.1016/j.ymgme.2017.03.005]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Cianfriglia, M., Miggiano, V. C., Meo, T., Muller, H. J., Muller, E., Battistuzzi, G.
|
|
<strong>Evidence for synteny between the rabbit gene loci coding for HPRT, PGK and G6PD in mouse-rabbit somatic cell hybrids. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 142, 1979.
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|
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Cooper, T. A., Mattox, W.
|
|
<strong>The regulation of splice-site selection, and its role in human disease.</strong>
|
|
Am. J. Hum. Genet. 61: 259-266, 1997.
|
|
|
|
|
|
[PubMed: 9311728]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/514856]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davies, J. P., Winchester, B. G., Malcolm, S.
|
|
<strong>Mutation analysis in patients with the typical form of Anderson-Fabry disease.</strong>
|
|
Hum. Molec. Genet. 2: 1051-1053, 1993.
|
|
|
|
|
|
[PubMed: 8395937]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.7.1051]
|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Davies, J. P., Winchester, B. G., Malcolm, S.
|
|
<strong>Sequence variations in the first exon of alpha-galactosidase A.</strong>
|
|
J. Med. Genet. 30: 658-663, 1993.
|
|
|
|
|
|
[PubMed: 8411052]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.8.658]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
deJong, J. G. N., Jansen, P. P. M., van den Berg, C. J. M. G., Hamel, B. C. J., Wevers, R. A., Ploos van Amstel, J. K.
|
|
<strong>Genetic heterogeneity in Fabry's disease: mutations in the alpha-galactosidase A gene.</strong>
|
|
Proceedings of the 2nd International Duodecim Symposium. Molecular Biology of Lysosomal Disease, Majik, Finland 1993.
|
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|
|
</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Echard, G., Gillois, M.
|
|
<strong>Rabbit gene mapping: G6PD--alpha-GAL-PGK--HPRT synteny. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 148, 1979.
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eng, C. M., Desnick, R. J.
|
|
<strong>Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.</strong>
|
|
Hum. Mutat. 3: 103-111, 1994.
|
|
|
|
|
|
[PubMed: 7911050]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380030204]
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</p>
|
|
</li>
|
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<li>
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von Scheidt, W., Eng, C. M., Fitzmaurice, T. F., Erdmann, E., Hubner, G., Olsen, E. G. J., Christomanou, H., Kandolf, R., Bishop, D. F., Desnick, R. J.
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Yang, C.-C., Lai, L.-W., Whitehair, O., Hwu, W.-L., Chiang, S.-C., Lien, Y.-H. H.
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<strong>Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.</strong>
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Yasuda, M., Shabbeer, J., Benson, S. D., Maire, I., Burnett, R. M., Desknick, R. J.
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<strong>Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.</strong>
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Yasuda, M., Shabbeer, J., Osawa, M., Desnick, R. J.
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<strong>Fabry disease: novel alpha-galactosidase A 3-prime-terminal mutations result in multiple transcripts due to aberrant 3-prime-end formation.</strong>
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Yokoi, T., Shinoda, K., Ohno, I., Kato, K., Miyawaki, T., Taniguchi, N.
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<strong>A 3-prime splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.</strong>
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Hilary J. Vernon - updated : 10/20/2022<br>Hilary J. Vernon - updated : 09/09/2021<br>Ada Hamosh - updated : 06/15/2017<br>Cassandra L. Kniffin - updated : 12/5/2013<br>Cassandra L. Kniffin - updated : 11/1/2010
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