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Entry
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- *308000 - HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*308000</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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<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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<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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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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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="#evolution">Evolution</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/308000">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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165704;t=ENST00000298556" 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=3251" 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=308000" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165704;t=ENST00000298556" 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_000194" 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_000194" 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=308000" 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=02388&isoform_id=02388_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/HPRT1" 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/123497,184352,184370,244378,306885,459815,459817,4504483,9791174,12653603,47115227,54288829,54695570,119632165,119632166,189066679,332367618,846925152,2017770044" 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/P00492" 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=3251" 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=ENSG00000165704;t=ENST00000298556" 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=HPRT1" 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=HPRT1" 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+3251" 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/HPRT1" 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:3251" 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/3251" 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=ENST00000298556.8&hgg_start=134460165&hgg_end=134500668&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5157" 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:5157" 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/hprt1" 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=308000[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=308000[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/HPRT1/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/ENSG00000165704" 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=HPRT1" 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=HPRT1" 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=HPRT1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.ibiblio.org/dnam/mainpage.html" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HPRT1&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/PA29427" 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:5157" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96217" 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/HPRT1#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:96217" 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/3251/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002855/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3251" 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=WBGene00013690;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-040426-1918" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:308000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3251" 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=HPRT1&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> 10406007, 238007004<br />
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<strong>ICD10CM:</strong> E79.1<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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308000
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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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HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HPRT<br />
|
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HGPRT
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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=HPRT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HPRT1</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/697?start=-3&limit=10&highlight=697">Xq26.2-q26.3</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:134460165-134500668&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:134,460,165-134,500,668</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</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">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=300323,300322" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
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Inheritance
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Phenotype <br /> mapping key
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Xq26.2-q26.3
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Hyperuricemia, HRPT-related
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<span class="mim-font">
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<a href="/entry/300323"> 300323 </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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<a href="/entry/300322"> 300322 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/308000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/308000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 encodes hypoxanthine phosphoribosyltransferase (<a href="https://enzyme.expasy.org/EC/2.4.2.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.2.8</a>), which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (summary by <a href="#68" class="mim-tip-reference" title="Keebaugh, A. C., Sullivan, R. T., NISC Comparative Sequencing Program, Thomas, J. W. <strong>Gene duplication and inactivation in the HPRT gene family.</strong> Genomics 89: 134-142, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16928426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16928426</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16928426">Keebaugh et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16928426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Cloning and Expression</strong>
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<p><a href="#66" class="mim-tip-reference" title="Jolly, D. J., Esty, A. C., Bernard, H. U., Friedmann, T. <strong>Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.</strong> Proc. Nat. Acad. Sci. 79: 5038-5041, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6956912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6956912</a>] [<a href="https://doi.org/10.1073/pnas.79.16.5038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6956912">Jolly et al. (1982)</a> isolated a genomic clone partially encoding human HPRT. <a href="#67" class="mim-tip-reference" title="Jolly, D. J., Okayama, H., Berg, P., Esty, A. C., Filpula, D., Bohlen, P., Johnson, G. G., Shively, J. E., Hunkapiller, T., Friedmann, T. <strong>Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyltransferase.</strong> Proc. Nat. Acad. Sci. 80: 477-481, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300847</a>] [<a href="https://doi.org/10.1073/pnas.80.2.477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6300847">Jolly et al. (1983)</a> cloned a full-length 1.6 kb cDNA of a human mRNA coding for HPRT into an SV40-based expression vector and determined its full nucleotide sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6956912+6300847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Structure</strong>
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<p><a href="#104" class="mim-tip-reference" title="Patel, P. I., Framson, P. E., Caskey, C. T., Chinault, A. C. <strong>Fine structure of the human hypoxanthine phosphoribosyltransferase gene.</strong> Molec. Cell. Biol. 6: 393-403, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3023844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3023844</a>] [<a href="https://doi.org/10.1128/mcb.6.2.393-403.1986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3023844">Patel et al. (1986)</a> reported that the HPRT gene is about 44 kb long and contains 9 exons; see also <a href="#71" class="mim-tip-reference" title="Kim, S. H., Moores, J. C., David, D., Respess, J. G., Jolly, D. J., Friedmann, T. <strong>The organization of the human HPRT gene.</strong> Nucleic Acids Res. 14: 3103-3118, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3008106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3008106</a>] [<a href="https://doi.org/10.1093/nar/14.7.3103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3008106">Kim et al. (1986)</a> and <a href="#85" class="mim-tip-reference" title="Melton, D. W., Konecki, D. S., Brennand, J., Caskey, C. T. <strong>Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.</strong> Proc. Nat. Acad. Sci. 81: 2147-2151, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6326107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6326107</a>] [<a href="https://doi.org/10.1073/pnas.81.7.2147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6326107">Melton et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3023844+3008106+6326107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>Mapping</strong>
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<p>X-linkage was first suggested by <a href="#62" class="mim-tip-reference" title="Hoefnagel, D., Andrew, E. D., Mireault, N. G., Berndt, W. O. <strong>Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males.</strong> New Eng. J. Med. 273: 130-135, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14303658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14303658</a>] [<a href="https://doi.org/10.1056/NEJM196507152730303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14303658">Hoefnagel et al. (1965)</a> and was supported by a rapidly accumulated series of families with deficiency of HPRT. Studies using human-mouse somatic cell hybrids indicated, by reasoning similar to that used for locating the thymidine kinase locus to chromosome 17 (<a href="/entry/188300">188300</a>), that the HPRT locus is on the X chromosome (<a href="#95" class="mim-tip-reference" title="Nabholz, M., Miggiano, V., Bodmer, W. <strong>Genetic analysis with human-mouse somatic cell hybrids.</strong> Nature 223: 358-363, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4309885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4309885</a>] [<a href="https://doi.org/10.1038/223358a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4309885">Nabholz et al., 1969</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4309885+14303658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Studying X-autosome translocations in somatic cell hybrids, <a href="#102" class="mim-tip-reference" title="Pai, G. S., Sprenkle, J. A., Do, T. T., Mareni, C. E., Migeon, B. R. <strong>Localization of loci for hypoxanthine phosphate dehydrogenase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.</strong> Proc. Nat. Acad. Sci. 77: 2810-2813, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6930669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6930669</a>] [<a href="https://doi.org/10.1073/pnas.77.5.2810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6930669">Pai et al. (1980)</a> showed that a breakpoint at the junction of Xq27-q28 separates HPRT from G6PD (<a href="/entry/305900">305900</a>). G6PD is distally situated at Xq28. They localized HPRT to the segment between Xq26 and Xq27. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6930669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 9/26/2017."None>Gross (2017)</a> mapped the HPRT1 gene to chromosome Xq26.2 based on an alignment of the HPRT1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY780550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY780550</a>) with the genomic sequence (GRCh38).</p><p>Three HPRT pseudogenes, located on chromosomes 3, 5 and 11, have been identified (<a href="#131" class="mim-tip-reference" title="Stout, J. T., Caskey, C. T. <strong>Personal Communication.</strong> Houston, Tex. 5/5/1984."None>Stout and Caskey, 1984</a>). <a href="#24" class="mim-tip-reference" title="Dobrovic, A., Gareau, P., Seifert, A.-M., Messing, K., Bradley, W. E. C. <strong>A HindIII RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1).</strong> Nucleic Acids Res. 15: 1346, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2881273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2881273</a>] [<a href="https://doi.org/10.1093/nar/15.3.1346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2881273">Dobrovic et al. (1987)</a> identified a RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2881273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>For more detailed information on HPRT1 mapping studies, see HISTORY.</p>
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<p>To define genomic elements required for HPRT1 expression in HAP1 human myelogenous leukemia cells, <a href="#46" class="mim-tip-reference" title="Gasperini, M., Findlay, G. M., McKenna, A., Milbank, J. H., Lee, C., Zhang, M. D., Cusanovich, D. A., Shendure, J. <strong>CRISPR/Cas9-mediated scanning for regulatory elements required for HPRT1 expression via thousands of large, programmed genomic deletions.</strong> Am. J. Hum. Genet. 101: 192-205, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28712454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28712454</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28712454[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.06.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28712454">Gasperini et al. (2017)</a> induced large CRISPR/Cas9-based deletions in a 206-kb region surrounding the HPRT1 gene. All 9 exons were required for HPRT1 expression and function, as measured by sensitivity to the purine analog 6-thioguanine. No distal 5-prime regulatory element was detected, and only a narrow window of noncoding sequence immediately upstream of the transcriptional start site and 5-prime UTR was required for HPRT1 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28712454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#48" class="mim-tip-reference" title="Gibbs, R. A., Caskey, C. T. <strong>Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.</strong> Science 236: 303-305, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3563511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3563511</a>] [<a href="https://doi.org/10.1126/science.3563511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3563511">Gibbs and Caskey (1987)</a> used the ribonuclease A cleavage procedure, with a polyuridylic acid-paper affinity chromatography step, to identify the mutation lesions in the HPRT mRNA of patients with Lesch-Nyhan syndrome (LNS; <a href="/entry/300322">300322</a>). Of 14 patients chosen because no HPRT Southern or Northern blotting pattern changes had been found, 5 were shown to have a distinctive ribonuclease A cleavage pattern in messenger RNA. This method makes it possible to assay for point mutation. The method had been used to characterize beta-globin mutations in genomic DNA (<a href="#94" class="mim-tip-reference" title="Myers, R. M., Larin, A., Maniatis, T. <strong>Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.</strong> Science 230: 1242-1246, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4071043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4071043</a>] [<a href="https://doi.org/10.1126/science.4071043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4071043">Myers et al., 1985</a>) and KRAS variants in RNA from tumor cell lines. The ribonuclease A cleavage assays are based on the fact that some single-base mismatch sites in RNA hybrids with RNA or DNA will be cleaved by RNase A. Cleavage occurs because of the single-stranded status of a region within the hybrid. Since Southern and Northern blots show rearrangements in about 15% of cases, combination of these methods with the ribonuclease A cleavage method permits identification of abnormality in about 50% of cases. <a href="#124" class="mim-tip-reference" title="Simpson, D., Crosby, R. M., Skopek, T. R. <strong>A method for specific cloning and sequencing of human HPRT cDNA for mutation analysis.</strong> Biochem. Biophys. Res. Commun. 151: 487-492, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348790</a>] [<a href="https://doi.org/10.1016/0006-291x(88)90619-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3348790">Simpson et al. (1988)</a> described a method of PCR (polymerase chain reaction) for cloning and sequencing specific human HPRT cDNAs for mutation analysis. <a href="#151" class="mim-tip-reference" title="Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T. <strong>Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients.</strong> Nature 310: 412-414, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087154</a>] [<a href="https://doi.org/10.1038/310412a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6087154">Yang et al. (1984)</a> found that the mutations in 7 Lesch-Nyhan patients were different. They demonstrated how it is possible to trace the origin of new mutations by molecular genetic methods. <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> used automated direct DNA sequence analysis of amplified HPRT cDNA to detect and characterize nucleotide alterations in 15 independent mutations causing HPRT deficiency. <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> used the PCR method to identify the mutations in HPRT mRNA from B-lymphoblasts derived from 10 deficient individuals. Six contained single point mutations, 3 contained deletions, and 1 contained a single nucleotide insertion. Several of these mutations mapped near previously identified HPRT variants and are located in evolutionarily conserved regions of the molecule. <a href="#28" class="mim-tip-reference" title="Edwards, A., Voss, H., Rice, P., Civitello, A., Stegemann, J., Schwager, C., Zimmermann, J., Erfle, H., Caskey, C. T., Ansorge, W. <strong>Automated DNA sequencing of the human HPRT locus.</strong> Genomics 6: 593-608, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2341149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2341149</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90493-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2341149">Edwards et al. (1990)</a> reported the complete sequence of 57 kb of DNA at the HPRT locus. <a href="#101" class="mim-tip-reference" title="Ogasawara, N., Stout, J. T., Goto, H., Sonta, S., Matsumoto, A., Caskey, C. T. <strong>Molecular analysis of a female Lesch-Nyhan patient.</strong> J. Clin. Invest. 84: 1024-1027, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760209</a>] [<a href="https://doi.org/10.1172/JCI114224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2760209">Ogasawara et al. (1989)</a> studied a 9-year-old girl with typical biochemical and behavioral characteristics of the Lesch-Nyhan syndrome. Cytogenetic and carrier studies showed structurally normal chromosomes in the patient and her parents and demonstrated that the mutation arose through a de novo gametic event. DNA studies showed a microdeletion that occurred in a maternal gamete and involved the entire HPRT gene. However, in addition to this, by study of somatic cell hybrids generated to separate maternal and paternal X chromosomes, <a href="#101" class="mim-tip-reference" title="Ogasawara, N., Stout, J. T., Goto, H., Sonta, S., Matsumoto, A., Caskey, C. T. <strong>Molecular analysis of a female Lesch-Nyhan patient.</strong> J. Clin. Invest. 84: 1024-1027, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760209</a>] [<a href="https://doi.org/10.1172/JCI114224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2760209">Ogasawara et al. (1989)</a> showed that there was a nonrandom inactivation of the cytogenetically normal paternal X chromosome. Specifically, 2 other X-linked enzymes, phosphoglycerate kinase and G6PD, were expressed only in somatic cell hybrid cells that contained the maternal X chromosome. Furthermore, comparison of methylation patterns within a region of the HPRT gene known to be important in gene regulation showed differences between the DNA of the father and that of the patient, in keeping with an active HPRT locus in the father and an inactive HPRT locus in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3563511+4071043+2760209+2928313+6087154+2341149+3348790+2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Southern blot patterns, <a href="#125" class="mim-tip-reference" title="Sinnett, D., Lavergne, L., Melancon, S. B., Dallaire, L., Potier, M., Labuda, D. <strong>Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.</strong> Hum. Genet. 81: 4-8, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904404</a>] [<a href="https://doi.org/10.1007/BF00283719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904404">Sinnett et al. (1988)</a> found no evidence of major structural alterations in the HPRT gene in 3 French Canadian families with LNS. Northern analysis using HPRT cDNA as a probe showed no hybridizing RNA in an affected member of 1 family, whereas normal-sized mRNA was expressed at a very low level in the second family and at a level comparable to the normal in the third. These data and other information presented here indicate the heterogeneity of LNS resulting from point mutations or small DNA deletions or rearrangements, which may affect transcription, stability, or integrity of the HPRT message. <a href="#119" class="mim-tip-reference" title="Seegmiller, J. E. <strong>Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.</strong> J. Inherit. Metab. Dis. 12: 184-196, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502677</a>] [<a href="https://doi.org/10.1007/BF01800725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2502677">Seegmiller (1989)</a> gave a useful overview of the substantial contributions of the Lesch-Nyhan syndrome to the understanding of purine metabolism, thus illustrating the garrodian principle of the usefulness of rare genetic diseases to the understanding of biology and medicine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2502677+2904404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 reporting lesions in the HPRT gene, the initiation methionine codon has been counted as position 1 in some reports (e.g., <a href="#142" class="mim-tip-reference" title="Wilson, J. M., Frossard, P., Nussbaum, R. L., Caskey, C. T., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis.</strong> J. Clin. Invest. 72: 767-772, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6309910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6309910</a>] [<a href="https://doi.org/10.1172/JCI111047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6309910">Wilson et al., 1983</a>; <a href="#41" class="mim-tip-reference" title="Fujimori, S., Hidaka, Y., Davidson, B. L., Palella, T. D., Kelley, W. N. <strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong> Hum. Genet. 79: 39-43, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896620</a>] [<a href="https://doi.org/10.1007/BF00291707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896620">Fujimori et al., 1988</a>), whereas the codon for the first amino acid of the mature protein has been used in others (e.g., <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al., 1989</a>). In the listing that follows, the initiation methionine codon is counted as number 1 throughout. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6309910+2928313+2896620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See <a href="#111" class="mim-tip-reference" title="Rossiter, B. J. F., Edwards, A., Caskey, C. T. <strong>HPRT mutation and the Lesch-Nyhan syndrome. In: Brosius, J.; Freneau, R. (eds.): Molecular Genetic Approaches to Neuropsychiatric Disease.</strong> New York: Academic Press (pub.) 1991."None>Rossiter et al. (1991)</a> for a tabulation of HPRT mutations causing Lesch-Nyhan syndrome. A notable feature of the list is the great variety of mutations that can cause the Lesch-Nyhan syndrome and the rarity of 'repeat' mutations: HPRT London (<a href="#0010">308000.0010</a>), a cause of precocious gout, occurred in 2 unrelated persons; only the his203-to-asp mutation (<a href="#0019">308000.0019</a>) had been found in 2 unrelated LNS patients.</p><p><a href="#117" class="mim-tip-reference" title="Sculley, D. G., Dawson, P. A., Emmerson, B. T., Gordon, R. B. <strong>A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.</strong> Hum. Genet. 90: 195-207, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1487231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1487231</a>] [<a href="https://doi.org/10.1007/BF00220062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1487231">Sculley et al. (1992)</a> reviewed the mutations involving the coding region of HPRT. These included 32 that predictably cause changes in the size of the translated protein and 38 that represent mutations causing a single amino acid substitution. They commented that in the absence of precise information on the 3-dimensional structure of the HPRT protein, it remains difficult to determine any consistent correlation between structure and function of the enzyme. <a href="#5" class="mim-tip-reference" title="Boyd, M., Lanyon, W. G., Connor, J. M. <strong>Screening for molecular pathologies in Lesch-Nyhan syndrome.</strong> Hum. Mutat. 2: 127-130, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318989</a>] [<a href="https://doi.org/10.1002/humu.1380020212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8318989">Boyd et al. (1993)</a> used heteroduplex detection by hydrolink gel electrophoresis in screening for mutations in families with Lesch-Nyhan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8318989+1487231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 their Figure 3, <a href="#106" class="mim-tip-reference" title="Renwick, P. J., Birley, A. J., McKeown, C. M. E., Hulten, M. <strong>Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.</strong> Clin. Genet. 48: 80-84, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586656</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04060.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7586656">Renwick et al. (1995)</a> provided a summary map of the HPRT mutations identified as causing disease in humans. Insertions and deletions, as well as point mutations, were indicated. They stated that 17 microdeletions, most of them less than 20 bp, had been identified. Gross alterations involving the HPRT gene found by Southern analysis using cDNA probes included 3 total gene deletions, 3 partial gene deletions involving the 3-prime portion, 2 duplications, and a possible insertion. These gross DNA alterations accounted for only 12% of reported Lesch-Nyhan cases. They reported another case, that of a 5-kb deletion that had its end points in the first and third introns and was responsible for Lesch-Nyhan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Colgin, L. M., Hackmann, A. F. M., Emond, M. J., Monnat, R. J., Jr. <strong>The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.</strong> Proc. Nat. Acad. Sci. 99: 1437-1442, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11818556[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.032655699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818556">Colgin et al. (2002)</a> studied the HPRT gene to investigate the spectrum and frequency of somatic mutations in kidney tubular epithelial cells. Studies were done in primary tubular epithelial cell clones grown directly from human kidney tissue. The authors found that mutant tubular epithelial cells, recovered by growth in the purine analog 6-thioguanine (TG), were surprisingly frequent. Mutant frequency increased approximately 1% per year of donor age and was 10-fold or more higher in kidney than in peripheral blood T lymphocytes of normal, age-matched donors. Most TG-resistant kidney tubular epithelial cells from single donors contained different HPRT mutations. A high proportion of the mutations represented unreported HPRT base substitutions, 1-bp deletions, and multiple mutations. This spectrum of somatic mutations differed from HPRT mutations found in human peripheral blood T lymphocytes and from germline HPRT mutations identified in Lesch-Nyhan syndrome or hyperuricemia patients. The results indicated that DNA damage and mutagenesis may have unusual features in kidney tubular epithelium and that somatic mutation may play a more important role in human kidney disease than previously appreciated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11818556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Ceballos-Picot, I., Mockel, L., Potier, M.-C., Dauphinot, L., Shirley, T. L., Torero-Ibad, R., Fuchs, J., Jinnah, H. A. <strong>Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.</strong> Hum. Molec. Genet. 18: 2317-2327, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19342420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19342420</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19342420[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19342420">Ceballos-Picot et al. (2009)</a> demonstrated that HPRT deficiency influences early developmental processes controlling the dopaminergic phenotype. Microarray methods and quantitative PCR were applied to 10 different HPRT-deficient sublines derived from the hybrid MN9D cell line, derived from somatic fusion of embryonic mouse primary midbrain dopaminergic neurons and a mouse neuroblastoma cell line. There were consistent increases in mRNAs for engrailed-1 (EN1; <a href="/entry/131290">131290</a>) and -2 (EN2; <a href="/entry/131310">131310</a>), transcription factors known to play a role in the specification and survival of dopamine neurons. The increases in mRNAs were accompanied by increases in engrailed proteins, and restoration of HPRT reverted engrailed expression towards normal levels. The functional relevance of the abnormal developmental molecular signature of the HPRT-deficient MN9D cells was evident in impoverished neurite outgrowth when the cells were forced to differentiate chemically. These abnormalities were also seen in HPRT-deficient sublines from the SK-N-BE(2)-M17 human neuroblastoma line, and overexpression of engrailed was documented in primary fibroblasts from patients with Lesch-Nyhan disease. <a href="#9" class="mim-tip-reference" title="Ceballos-Picot, I., Mockel, L., Potier, M.-C., Dauphinot, L., Shirley, T. L., Torero-Ibad, R., Fuchs, J., Jinnah, H. A. <strong>Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.</strong> Hum. Molec. Genet. 18: 2317-2327, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19342420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19342420</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19342420[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19342420">Ceballos-Picot et al. (2009)</a> concluded that HPRT deficiency may affect dopaminergic neurons by influencing early developmental mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19342420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a molecular analysis of 85 French and Italian patients with HPRT mutations, including 54 with LNS, 19 with the LNS neurologic variant, and 12 with HRH, <a href="#79" class="mim-tip-reference" title="Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P., Ceballos-Picot, I. <strong>Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.</strong> Molec. Genet. Metab. 127: 147-157, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31182398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31182398</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31182398">Madeo et al. (2019)</a> found that complex rearrangements, nonsense mutations, wide deletions, and splicing mutations were almost always associated with neurologic and behavioral manifestations, corresponding to an LNS or, less frequently, LNS with neurologic phenotype, while missense mutations were found in all 3 subgroups, but more frequently in the attenuated variants. However, intrafamilial phenotypic variability was also found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31182398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 comparative mapping and sequencing, in conjunction with database analysis, <a href="#68" class="mim-tip-reference" title="Keebaugh, A. C., Sullivan, R. T., NISC Comparative Sequencing Program, Thomas, J. W. <strong>Gene duplication and inactivation in the HPRT gene family.</strong> Genomics 89: 134-142, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16928426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16928426</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16928426">Keebaugh et al. (2007)</a> showed that the HPRT gene family expanded as a result of ancient vertebrate-specific duplications and is composed of 3 groups: HPRT1, PRTFDC1 (<a href="/entry/610751">610751</a>) and Hprt1l, which is found only in fish. These 3 gene groups have distinct rates of evolution and potentially divergent function. <a href="#68" class="mim-tip-reference" title="Keebaugh, A. C., Sullivan, R. T., NISC Comparative Sequencing Program, Thomas, J. W. <strong>Gene duplication and inactivation in the HPRT gene family.</strong> Genomics 89: 134-142, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16928426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16928426</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16928426">Keebaugh et al. (2007)</a> noted that HPRT1 is an X-linked gene in placental mammals and marsupials, whereas in other vertebrates it is located on an autosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16928426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#64" class="mim-tip-reference" title="Hooper, M., Hardy, K., Handyside, A., Hunter, S., Monk, M. <strong>HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.</strong> Nature 326: 292-295, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3821905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3821905</a>] [<a href="https://doi.org/10.1038/326292a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3821905">Hooper et al. (1987)</a> and <a href="#74" class="mim-tip-reference" title="Kuehn, M. R., Bradley, A., Robertson, E. J., Evans, M. J. <strong>A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.</strong> Nature 326: 295-298, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3029599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3029599</a>] [<a href="https://doi.org/10.1038/326295a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3029599">Kuehn et al. (1987)</a> independently reported success in generating HPRT-deficient male mice by injecting into normal embryos pluripotential stem cells which had first been selected as HPRT-negative in tissue culture. They found that the germline was colonized by these cultured cells with resulting germline chimerism and production of female offspring heterozygous for HPRT deficiency. In this way it was possible to derive strains of mutant mice having the same biochemical defect as Lesch-Nyhan patients. The availability of such mice should permit study of the molecular basis of the phenotype in this disorder. HPRT is an ideal gene for these studies because it is expressed by all cells and only 1 copy needs to be eliminated in XY cell lines to produce enzyme deficiency; because the gene presents a reasonable target size (34 kb) and cloned probes enable the sites of mutation to be mapped; and particularly because a powerful technique is available for selecting HPRT-negative cells. Since these cells, unlike HPRT-positive cells, are unable to salvage free purine bases, they are not killed when toxic purine analogs such as 6-thioguanine and 8-azoguanine are added to the culture medium. The method used by these workers depended on embryonic stem (ES) cells that can still enter the germline after genetic manipulation in culture. <a href="#25" class="mim-tip-reference" title="Doetschman, T., Gregg, R. G., Maeda, N., Hooper, M. L., Melton, D. W., Thompson, S., Smithies, O. <strong>Targetted (sic) correction of a mutant HPRT gene in mouse embryonic stem cells.</strong> Nature 330: 576-578, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3683574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3683574</a>] [<a href="https://doi.org/10.1038/330576a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3683574">Doetschman et al. (1987)</a> used homologous recombination between the HPRT gene and exogenous DNA for targeted correction of the HPRT locus in the ES cell line that had previously been isolated and used to produce an HPRT-deficient mouse. <a href="#73" class="mim-tip-reference" title="Koller, B. H., Hagemann, L. J., Doetschman, T., Hagaman, J. R., Huang, S., Williams, P. J., First, N. L., Maeda, N., Smithies, O. <strong>Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells.</strong> Proc. Nat. Acad. Sci. 86: 8927-8931, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2573070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2573070</a>] [<a href="https://doi.org/10.1073/pnas.86.22.8927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2573070">Koller et al. (1989)</a> injected the 'corrected' embryonic stem cells into blastocysts which were introduced into pseudopregnant female mice to complete their development. Nine chimeric pups (6 males, 3 females) were obtained. Two of the males transmitted the embryonic stem cell genome containing the alteration in the HPRT gene to their offspring at high frequencies. Using a mouse model of HPRT deficiency, Monk et al. (<a href="#90" class="mim-tip-reference" title="Monk, M., Handyside, A., Hardy, K., Whittingham, D. <strong>Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.</strong> Lancet 330: 423-425, 1987. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2887727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2887727</a>] [<a href="https://doi.org/10.1016/s0140-6736(87)90959-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2887727">1987</a>, <a href="#91" class="mim-tip-reference" title="Monk, M., Handyside, A., Muggleton-Harris, A., Whittingham, D. <strong>Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay.</strong> Am. J. Med. Genet. 35: 201-205, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309758</a>] [<a href="https://doi.org/10.1002/ajmg.1320350212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2309758">1990</a>) showed that sexing and diagnosis of the deficiency could be performed in preimplantation embryos by biochemical microassay. The diagnoses were sufficiently rapid that freezing of the embryos before transfer was not necessary. Sexing was possible because both X chromosomes are active in female morulae and the blastomeres sampled from female preimplantation embryos have twice as much X-encoded HPRT activity as do blastomeres from male embryos. <a href="#150" class="mim-tip-reference" title="Wu, C.-L., Melton, D. W. <strong>Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.</strong> Nature Genet. 3: 235-239, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8485579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8485579</a>] [<a href="https://doi.org/10.1038/ng0393-235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8485579">Wu and Melton (1993)</a> examined the question of why HPRT-deficient mice generated using the embryonic stem cell system show no spontaneous behavioral abnormalities characteristic of Lesch-Nyhan syndrome. They suspected that mice are more tolerant of HPRT deficiency because they are more reliant on adenine phosphoribosyltransferase (APRT; <a href="/entry/102600">102600</a>) than HPRT for their purine salvage. Pursuing this idea, they administered an APRT inhibitor to HPRT-deficient mice and induced persistent self-injurious behavior. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2309758+2573070+3683574+3029599+3821905+8485579+2887727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="Engle, S. J., Womer, D. E., Davies, P. M., Boivin, G., Sahota, A., Simmonds, H. A., Stambrook, P. J., Tischfield, J. A. <strong>HPRT-APRT-deficient mice are not a model for Lesch-Nyhan syndrome.</strong> Hum. Molec. Genet. 5: 1607-1610, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8894695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8894695</a>] [<a href="https://doi.org/10.1093/hmg/5.10.1607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8894695">Engle et al. (1996)</a> bred HPRT/APRT doubly deficient mice in an attempt to induce behavioral manifestations characteristic of Lesch-Nyhan syndrome in humans. They noted that HPRT-deficient mice showed no behavioral abnormalities. The APRT/HPRT-deficient mice who were void of any purine salvage pathways showed no novel behavioral phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8894695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#108" class="mim-tip-reference" title="Rosenbloom, F. M., Kelley, W. N., Henderson, J. F., Seegmiller, J. E. <strong>Lyon hypothesis and X-linked disease. (Letter)</strong> Lancet 290: 305-306, 1967. Note: Originally Volume II."None>Rosenbloom et al. (1967)</a> and <a href="#86" class="mim-tip-reference" title="Migeon, B. R., Der Kaloustian, V. M., Nyhan, W. L., Young, W. J., Childs, B. <strong>X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.</strong> Science 160: 425-427, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4868511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4868511</a>] [<a href="https://doi.org/10.1126/science.160.3826.425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4868511">Migeon et al. (1968)</a> demonstrated 2 populations of fibroblasts, as regards the relevant enzyme activity, in heterozygous females, thus providing support both for X-linkage and for the Lyon hypothesis. <a href="#123" class="mim-tip-reference" title="Silvers, D. N., Cox, R. P., Balis, M. E., Dancis, J. <strong>Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.</strong> New Eng. J. Med. 286: 390-395, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4333083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4333083</a>] [<a href="https://doi.org/10.1056/NEJM197202242860802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4333083">Silvers et al. (1972)</a> demonstrated mosaicism by study of hair roots in women heterozygous for Lesch-Nyhan syndrome (LNS; <a href="/entry/300322">300322</a>), which is due to complete deficiency of HPRT. <a href="#36" class="mim-tip-reference" title="Francke, U., Felsenstein, J., Gartler, S. M., Migeon, B. R., Dancis, J., Seegmiller, J. E., Bakay, B., Nyhan, W. L. <strong>The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.</strong> Am. J. Hum. Genet. 28: 123-137, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1266847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1266847</a>]" pmid="1266847">Francke et al. (1976)</a> studied the frequency of new mutations among affected males. Lesch-Nyhan syndrome is particularly favorable for this purpose because no affected males reproduce, the diagnosis is unequivocal, cases come readily to attention, and heterozygosity can be demonstrated in females by the existence of 2 populations of cultured fibroblasts. There were few new mutations, contrary to the expected one-third. On the other hand, about one-half of heterozygous females were new mutations, as is predicted by theory. The finding may indicate a higher frequency of mutation in males than in females. Another possibility is the role of somatic and half-chromatid mutations (<a href="#45" class="mim-tip-reference" title="Gartler, S. M., Francke, U. <strong>Half-chromatid mutation: transmission in humans?</strong> Am. J. Hum. Genet. 27: 218-223, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1124765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1124765</a>]" pmid="1124765">Gartler and Francke, 1975</a>). New mutation cases of heterozygous females had elevated parental age. <a href="#138" class="mim-tip-reference" title="Vogel, F. <strong>A probable sex difference in some mutation rates. (Editorial)</strong> Am. J. Hum. Genet. 29: 312-319, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/868880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">868880</a>]" pmid="868880">Vogel (1977)</a> reviewed the evidence concerning hemophilia and Lesch-Nyhan syndrome leading to the conclusion that the mutation rate is higher in males than in females. Evidence that the mutation rate for Lesch-Nyhan disease may be higher in males than in females was reviewed by <a href="#36" class="mim-tip-reference" title="Francke, U., Felsenstein, J., Gartler, S. M., Migeon, B. R., Dancis, J., Seegmiller, J. E., Bakay, B., Nyhan, W. L. <strong>The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.</strong> Am. J. Hum. Genet. 28: 123-137, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1266847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1266847</a>]" pmid="1266847">Francke et al. (1976)</a> and criticized by <a href="#93" class="mim-tip-reference" title="Morton, N. E., Lalouel, J. M. <strong>Genetic epidemiology of Lesch-Nyhan disease. (Letter)</strong> Am. J. Hum. Genet. 29: 304-307, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/868879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">868879</a>]" pmid="868879">Morton and Lalouel (1977)</a>. <a href="#37" class="mim-tip-reference" title="Francke, U., Felsenstein, J., Gartler, S. M., Nyhan, W. L., Seegmiller, J. E. <strong>Answer to criticism of Morton and Lalouel. (Letter)</strong> Am. J. Hum. Genet. 29: 307-310, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948539</a>]" pmid="17948539">Francke et al. (1977)</a> answered the criticism. <a href="#133" class="mim-tip-reference" title="Strauss, G. H., Allen, E. F., Albertini, R. J. <strong>An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan mutation.</strong> Biochem. Genet. 18: 529-547, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437011</a>] [<a href="https://doi.org/10.1007/BF00484400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7437011">Strauss et al. (1980)</a> showed that females heterozygous for the Lesch-Nyhan mutation have 2 populations of peripheral blood lymphocytes with regard to sensitivity to 6-thioguanine inhibition of tritiated thymidine incorporation following phytohemagglutinin stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=868879+4333083+17948539+1266847+4868511+1124765+7437011+868880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#61" class="mim-tip-reference" title="Henderson, J. F., Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E. <strong>Inheritance of purine phosphoribosyltransferases in man.</strong> Am. J. Hum. Genet. 21: 61-70, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5763607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5763607</a>]" pmid="5763607">Henderson et al. (1969)</a> concluded that the locus for HPRT is closely linked to the Xg (<a href="/entry/314700">314700</a>) locus; <a href="#56" class="mim-tip-reference" title="Greene, M. L., Nyhan, W. L., Seegmiller, J. E. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.</strong> Am. J. Hum. Genet. 22: 50-54, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5411648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5411648</a>]" pmid="5411648">Greene et al. (1970)</a> concluded, however, that the HPRT and Xg loci 'are sufficient distance from each other on the human X chromosome that linkage cannot be detected.' <a href="#98" class="mim-tip-reference" title="Nyhan, W. L., Bakay, B., Connor, J. D., Marks, J. F., Keele, D. K. <strong>Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.</strong> Proc. Nat. Acad. Sci. 65: 214-218, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5263751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5263751</a>] [<a href="https://doi.org/10.1073/pnas.65.1.214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5263751">Nyhan et al. (1970)</a> observed a sibship in which both HPRT deficiency and G6PD deficiency (<a href="/entry/300908">300908</a>) were segregating and found 2 recombinants out of 4. <a href="#98" class="mim-tip-reference" title="Nyhan, W. L., Bakay, B., Connor, J. D., Marks, J. F., Keele, D. K. <strong>Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.</strong> Proc. Nat. Acad. Sci. 65: 214-218, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5263751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5263751</a>] [<a href="https://doi.org/10.1073/pnas.65.1.214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5263751">Nyhan et al. (1970)</a> also found that heterozygotes had normal levels of HPRT in red cells. They interpreted this as indicating a selective advantage of G6PD-normal over G6PD-deficient cells. (In adrenoleukodystrophy (<a href="/entry/300100">300100</a>), it is the mutant cell that enjoys the selective advantage.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5763607+5263751+5411648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 mouse-man hybrid cells, when the mouse parent cell is of the type called RAG which is resistant to 8-azaguanine because of a deficiency of HPRT, the human form of HPRT is required in order for the hybrid cells to survive in HAT selective medium. In over 100 clones of human-RAG hybrid cells maintained in HAT, <a href="#112" class="mim-tip-reference" title="Ruddle, F. H. <strong>Linkage studies employing mouse-man somatic cell hybrids.</strong> Fed. Proc. 30: 921-925, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4324979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4324979</a>]" pmid="4324979">Ruddle (1971)</a> saw without exception persistence of human G6PD activity. This strongly indicated either close linkage of the HPRT and G6PD loci or a very low incidence of X-chromosome breakage and rearrangement. <a href="#30" class="mim-tip-reference" title="Emmerson, B. T., Thompson, L., Wallace, D. C., Spence, M. A. <strong>Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan color blindness.</strong> Am. J. Hum. Genet. 26: 78-82, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4544175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4544175</a>]" pmid="4544175">Emmerson et al. (1974)</a> excluded close linkage of the HPRT and the deutan colorblindness (<a href="/entry/303800">303800</a>) loci. That the HPRT locus is X-linked in the mouse also was indicated by <a href="#32" class="mim-tip-reference" title="Epstein, C. J. <strong>Expression of the mammalian X chromosome before and after fertilization.</strong> Science 175: 1467-1468, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5013677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5013677</a>] [<a href="https://doi.org/10.1126/science.175.4029.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5013677">Epstein (1972)</a> finding that the activity of the enzyme at the 2-cell stage in the XO product is half that in the XX. No difference is observed in late morula and blastocyst stage. G6PD and HPRT are linked in the Chinese hamster (<a href="#110" class="mim-tip-reference" title="Rosenstraus, M., Chasin, L. A. <strong>Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase.</strong> Proc. Nat. Acad. Sci. 72: 493-497, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1054832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1054832</a>] [<a href="https://doi.org/10.1073/pnas.72.2.493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1054832">Rosenstraus and Chasin, 1975</a>) and presumably are on the X chromosome as in man. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5013677+4544175+4324979+1054832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By study of cell hybrids, <a href="#121" class="mim-tip-reference" title="Shows, T. B., Brown, J. A., Chapman, V. M. <strong>Comparative gene mapping of HPRT, G6PD and PGK in man, mouse, and muntjac deer.</strong> Birth Defects Orig. Art. Ser. XII(7): 436-439, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1024651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1024651</a>]" pmid="1024651">Shows et al. (1976)</a> found that HPRT and G6PD are closely linked in the muntjac deer. From study of radiation-induced segregants (irradiated human cells 'rescued' by fusion with hamster cells), <a href="#54" 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 4 loci 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. Alpha-GAL, HPRT, PGK (<a href="/entry/172270">172270</a>), and G6PD were found to be X-linked in 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 only, 1979."None>Cianfriglia et al., 1979</a>; <a href="#26" class="mim-tip-reference" title="Echard, G., Gillois, M. <strong>G6PD-PGK-GAL-HPRT synteny in the rabbit, Oryctolagus cunniculus. (Abstract)</strong> Cytogenet. Cell Genet. 25: 148-149, 1979."None>Echard and Gillois, 1979</a>). By comparable methods, <a href="#65" 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. According to cell hybridization studies, HPRT, G6PD and PGK, are also X-linked in the pig (<a href="#47" class="mim-tip-reference" title="Gellin, J., Benne, F., Renard, C., Vaiman, M., Hors-Cayla, M. C., Gillois, M. <strong>Pig gene mapping: synteny, attempt to assign the histocompatibility complex (SLA). (Abstract)</strong> Cytogenet. Cell Genet. 25: 159 only, 1979."None>Gellin et al., 1979</a>) and in sheep (<a href="#113" class="mim-tip-reference" title="Saidi, N., Hors-Cayla, M. C., Van Cong, N., Benne, F. <strong>Sheep gene mapping by somatic cell hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 25: 200 only, 1979."None>Saidi et al., 1979</a>). <a href="#39" 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 the 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. It is remarkable that although the HPRT and G6PD loci appear from physical mapping to be closely situated, family studies indicate considerable recombination (<a href="#35" class="mim-tip-reference" title="Francke, U., Bakay, B., Connor, J. D., Coldwell, J. G., Nyhan, W. L. <strong>Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase.</strong> Am. J. Hum. Genet. 26: 512-522, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4842775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4842775</a>]" pmid="4842775">Francke et al., 1974</a>). <a href="#33" class="mim-tip-reference" title="Fenwick, R. G., Jr. <strong>Reversion of a mutation affecting the molecular weight of HGPRT: intragenic suppression and localization of X-linked genes.</strong> Somat. Cell Genet. 6: 477-494, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7192435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7192435</a>] [<a href="https://doi.org/10.1007/BF01539151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7192435">Fenwick (1980)</a> assigned the HPRT, G6PD, and PGK loci to the short arm of the Chinese hamster X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7192435+4842775+561093+1024651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=308000[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">rs137852477 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852477;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=rs137852477" 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=rs137852477" 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=RCV000010712 OR RCV000010713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010712, RCV000010713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010712...</a>
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<p><a href="#41" class="mim-tip-reference" title="Fujimori, S., Hidaka, Y., Davidson, B. L., Palella, T. D., Kelley, W. N. <strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong> Hum. Genet. 79: 39-43, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896620</a>] [<a href="https://doi.org/10.1007/BF00291707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896620">Fujimori et al. (1988)</a> showed that the change in HPRT(Ann Arbor) is a single nucleotide change (T-to-G) at nucleotide position 396. This transversion predicts an amino acid substitution from isoleucine (ATT) to methionine (ATG) in codon 132, which is located within the putative PRPP-binding site of HPRT. HPRT(Ann Arbor) was identified in 2 brothers with hyperuricemia and nephrolithiasis (HRH; <a href="/entry/300323">300323</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852478 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852478;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=rs137852478" 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=rs137852478" 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=RCV000010714 OR RCV000010715 OR RCV001851783" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010714, RCV000010715, RCV001851783" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010714...</a>
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<p>In a male with gout and partial HPRT deficiency (HRH; <a href="/entry/300323">300323</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> found an A-to-T change at nucleotide 239, changing aspartic acid-80 to valine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852479;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=rs137852479" 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=rs137852479" 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=RCV000010716 OR RCV000010717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010716, RCV000010717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010716...</a>
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<p><a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> identified an A-to-G transition at nucleotide 602, leading to a substitution of glycine for aspartic acid as amino acid 201 in a variant referred to as HPRT(Ashville). The man with this mutant had severe precocious gout and uric acid nephrolithiasis, due to overproduction of uric acid, and partial HPRT deficiency (HRH; <a href="/entry/300323">300323</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LESCH-NYHAN SYNDROME</strong>
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HPRT CHICAGO
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HPRT, 1-BP INS, 56T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2077615673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2077615673;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=rs2077615673" 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=rs2077615673" 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=RCV000010718 OR RCV001255648" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010718, RCV001255648" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010718...</a>
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<p>In a patient with Lesch-Nyhan syndrome (LNS; <a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> demonstrated insertion of 1 nucleotide, a T, as either no. 56, 57, or 58. This led to a change of CCTTGA to CCTTTGA and termination of translation at asp20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 LESCH-NYHAN SYNDROME</strong>
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</span>
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<span class="mim-text-font">
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HPRT CONNERSVILLE
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</span>
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HPRT, EX8DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010720 OR RCV001255649" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010720, RCV001255649" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010720...</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> found deletion of nucleotides 532-609 (all of exon 8) causing loss of phe178 to asn203. A change in reading frames results in a stop codon 15 nucleotides downstream from the junction between exons 7 and 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 LESCH-NYHAN SYNDROME</strong>
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</h4>
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HPRT DETROIT
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HPRT, LEU41PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852480 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852480;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=rs137852480" 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=rs137852480" 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=RCV000010722 OR RCV000010723" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010722, RCV000010723" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010722...</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 LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> found that a change of nucleotide 122 from T to C caused substitution of proline for leu41. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 LESCH-NYHAN SYNDROME</strong>
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</span>
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</h4>
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HPRT EVANSVILLE
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HPRT, 24AA+
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906428 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906428;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=rs387906428" 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=rs387906428" 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=RCV000010724 OR RCV000010725" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010724, RCV000010725" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010724...</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 patient with LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> found an HPRT protein abnormally long by 24 amino acids, resulting from change in nucleotides 643 to 663 which code for the last 4 amino acids and the stop codon. This mutation was also reported by <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> in cell line RJK894. (RJK = Robert J. Kleberg, a major benefactor of the Institute of Medical Genetics at Baylor College of Medicine.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2347587+2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<br />
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<div>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 LESCH-NYHAN SYNDROME</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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HPRT FLINT
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HPRT, PHE74LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852481 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852481;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=rs137852481" 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=rs137852481" 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=RCV000010726 OR RCV000010727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010726, RCV000010727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010726...</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 LNS (<a href="/entry/300322">300322</a>), <a href="#15" class="mim-tip-reference" title="Davidson, B. L., Chin, S.-J., Wilson, J. M., Kelley, W. N., Palella, T. D. <strong>Hypoxanthine-guanine phosphoribosyltransferase: genetic evidence for identical mutations in two partially deficient subjects.</strong> J. Clin. Invest. 82: 2164-2167, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198771</a>] [<a href="https://doi.org/10.1172/JCI113839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198771">Davidson et al. (1988)</a> found a C-to-A change that converted phenylalanine-74 to leucine. (The cell line is also known as RJK896 (<a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al., 1990</a>).) This mutation is the same as that in HPRT Perth, which was identified as an independent mutation by <a href="#116" class="mim-tip-reference" title="Sculley, D. G., Dawson, P. A., Beacham, I. R., Emmerson, B. T., Gordon, R. B. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.</strong> Hum. Genet. 87: 688-692, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937471</a>] [<a href="https://doi.org/10.1007/BF00201727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937471">Sculley et al. (1991)</a> in a patient with Lesch-Nyhan syndrome in Australia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1937471+3198771+2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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HPRT KINSTON
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606863;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=rs267606863" 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=rs267606863" 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=RCV000010728" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010728" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010728</a>
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<p>HPRT(Kinston) has a G-to-A change resulting in substitution of asparagine for aspartic acid as amino acid 194 (<a href="#143" class="mim-tip-reference" title="Wilson, J. M., Kelley, W. N. <strong>Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.</strong> J. Clin. Invest. 71: 1331-1335, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6853716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6853716</a>] [<a href="https://doi.org/10.1172/jci110884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6853716">Wilson and Kelley, 1983</a>). <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> described an asp193-to-asn substitution in cell line RJK2188 from a patient with LNS (<a href="/entry/300322">300322</a>). This is the same as HPRT Kinston; <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> used the numbering system not counting the initial methionine, whereas <a href="#143" class="mim-tip-reference" title="Wilson, J. M., Kelley, W. N. <strong>Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.</strong> J. Clin. Invest. 71: 1331-1335, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6853716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6853716</a>] [<a href="https://doi.org/10.1172/jci110884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6853716">Wilson and Kelley (1983)</a> did use it. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2347587+6853716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 HYPERURICEMIA, HPRT-RELATED</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">rs137852482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852482;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=rs137852482" 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=rs137852482" 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=RCV000010730 OR RCV000010731 OR RCV003764546" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010730, RCV000010731, RCV003764546" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010730...</a>
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<p><a href="#142" class="mim-tip-reference" title="Wilson, J. M., Frossard, P., Nussbaum, R. L., Caskey, C. T., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis.</strong> J. Clin. Invest. 72: 767-772, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6309910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6309910</a>] [<a href="https://doi.org/10.1172/JCI111047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6309910">Wilson et al. (1983)</a> found substitution of leucine for serine at amino acid 109 in HPRT(London). <a href="#15" class="mim-tip-reference" title="Davidson, B. L., Chin, S.-J., Wilson, J. M., Kelley, W. N., Palella, T. D. <strong>Hypoxanthine-guanine phosphoribosyltransferase: genetic evidence for identical mutations in two partially deficient subjects.</strong> J. Clin. Invest. 82: 2164-2167, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198771</a>] [<a href="https://doi.org/10.1172/JCI113839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198771">Davidson et al. (1988)</a> showed that HPRT(London), observed in 2 apparently unrelated individuals and resulting in partial HPRT deficiency and gout (HRH; <a href="/entry/300323">300323</a>), is the result of a mutation that causes substitution of leucine for serine at amino acid 110. The DNA change is a C-to-T transition at bp 329. This transition creates an HpaI site in exon 4 of the HPRT gene. This is explicable by change from UCA to UUA in codon 109. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6309910+3198771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 LESCH-NYHAN SYNDROME</strong>
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HPRT MICHIGAN
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HPRT, 3-BP DEL, VAL179DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010732 OR RCV001255646" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010732, RCV001255646" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010732...</a>
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<p>In a case of LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> showed that the mutation is a deletion of nucleotides 535-537 resulting in loss of valine 179. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 LESCH-NYHAN SYNDROME</strong>
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HPRT, VAL130ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852483 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852483;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=rs137852483" 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=rs137852483" 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=RCV000010734 OR RCV000010735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010734, RCV000010735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010734...</a>
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<p>In a patient with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), <a href="#15" class="mim-tip-reference" title="Davidson, B. L., Chin, S.-J., Wilson, J. M., Kelley, W. N., Palella, T. D. <strong>Hypoxanthine-guanine phosphoribosyltransferase: genetic evidence for identical mutations in two partially deficient subjects.</strong> J. Clin. Invest. 82: 2164-2167, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198771</a>] [<a href="https://doi.org/10.1172/JCI113839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198771">Davidson et al. (1988)</a> and <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> found a T-to-A change resulting in substitution of aspartic acid for valine-130. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2928313+3198771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT MILWAUKEE
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HPRT, ALA161SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852484 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852484;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=rs137852484" 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=rs137852484" 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=RCV000010736 OR RCV000010737 OR RCV003764547" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010736, RCV000010737, RCV003764547" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010736...</a>
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<p>In a patient with partial HPRT deficiency and gout (HRH; <a href="/entry/300323">300323</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> found a change of nucleotide 481 from G to T resulting in substitution of alanine-161 by serine. (The cell line is RJK949 of <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2928313+2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT MUNICH
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HPRT, SER104ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852485 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852485;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=rs137852485" 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=rs137852485" 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=RCV000010738 OR RCV000010739" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010738, RCV000010739" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010738...</a>
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<p>By a combination of denaturing gradient gel electrophoresis and in vitro DNA amplification, <a href="#7" class="mim-tip-reference" title="Cariello, N. F., Scott, J. K., Kat, A. G., Thilly, W. G., Keohavong, P. <strong>Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT(Munich).</strong> Am. J. Hum. Genet. 42: 726-734, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358423</a>]" pmid="3358423">Cariello et al. (1988)</a> localized a DNA mutation to a given 100-bp region of the human genome and rapidly sequenced the DNA without cloning. The mutation studied by <a href="#7" class="mim-tip-reference" title="Cariello, N. F., Scott, J. K., Kat, A. G., Thilly, W. G., Keohavong, P. <strong>Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT(Munich).</strong> Am. J. Hum. Genet. 42: 726-734, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358423</a>]" pmid="3358423">Cariello et al. (1988)</a>, HPRT(Munich), came from a patient with gout (HRH; <a href="/entry/300323">300323</a>); it was found to represent a single basepair substitution, a C-to-A transversion at basepair 312. (This was reported as 397 by <a href="#7" class="mim-tip-reference" title="Cariello, N. F., Scott, J. K., Kat, A. G., Thilly, W. G., Keohavong, P. <strong>Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT(Munich).</strong> Am. J. Hum. Genet. 42: 726-734, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358423</a>]" pmid="3358423">Cariello et al. (1988)</a> because of a different system of numbering nucleotides.) <a href="#144" class="mim-tip-reference" title="Wilson, J. M., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: structural alteration in a dysfunctional enzyme variant (HPRT-Munich) isolated from a patient with gout.</strong> J. Biol. Chem. 259: 27-30, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6706936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6706936</a>]" pmid="6706936">Wilson and Kelley (1984)</a> defined it as a ser104-to-arg bp substitution by studies of protein sequence, and <a href="#103" class="mim-tip-reference" title="Palella, T. D. <strong>Personal Communication.</strong> Ann Arbor, Mich. 1/15/1990."None>Palella (1990)</a> later determined the nucleotide change as C-to-T. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6706936+3358423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0015" class="mim-anchor"></a>
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<h4>
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<strong>.0015 LESCH-NYHAN SYNDROME</strong>
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</h4>
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HPRT NEW BRITON
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HPRT, PHE199VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852486;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=rs137852486" 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=rs137852486" 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=RCV000010740 OR RCV000010741" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010740, RCV000010741" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010740...</a>
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<p>In a case of LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> showed that a T-to-G change in nucleotide 595 produced a substitution of phe199 by valine. (This is the same as cell line RJK950, studied by <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2928313+2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 LESCH-NYHAN SYNDROME</strong>
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</h4>
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HPRT NEW HAVEN
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HPRT, GLY70GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852487;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=rs137852487" 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=rs137852487" 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=RCV000010742 OR RCV000010743 OR RCV001851784" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010742, RCV000010743, RCV001851784" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010742...</a>
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<p>In a case of LNS (<a href="/entry/300322">300322</a>), <a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> showed that a G-to-A change in nucleotide 209 resulted in substitution of gly70 by glutamic acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<h4>
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<span class="mim-font">
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<strong>.0017 LESCH-NYHAN SYNDROME</strong>
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HPRT YALE
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HPRT, GLY71ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852488 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852488;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=rs137852488" 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=rs137852488" 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=RCV000010744 OR RCV000010745 OR RCV000790697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010744, RCV000010745, RCV000790697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010744...</a>
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<p>In the mutant HPRT(Yale), discovered in a subject with LNS (<a href="/entry/300322">300322</a>), <a href="#146" class="mim-tip-reference" title="Wilson, J. M., Stout, J. T., Palella, T. D., Davidson, B. L., Kelley, W. N., Caskey, C. T. <strong>A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.</strong> J. Clin. Invest. 77: 188-195, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944251</a>] [<a href="https://doi.org/10.1172/JCI112275" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944251">Wilson et al. (1986)</a> found normal mRNA in protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE. By cloning and sequencing HPRT(Yale) cDNA, <a href="#40" class="mim-tip-reference" title="Fujimori, S., Davidson, B. L., Kelley, W. N., Palella, T. D. <strong>Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT-Yale) responsible for Lesch-Nyhan syndrome.</strong> J. Clin. Invest. 83: 11-13, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2910902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2910902</a>] [<a href="https://doi.org/10.1172/JCI113846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2910902">Fujimori et al. (1989)</a> found a single nucleotide substitution: G-to-C at nucleotide position 211. This transversion predicted substitution of arginine for glycine at amino acid position 71, explaining the cathodal migration of HPRT(Yale). Inclusion of the bulky arginine side chain in place of glycine probably disrupts protein folding. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2910902+3944251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<br />
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<a id="0018" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0018 LESCH-NYHAN SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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HPRT, GLN108TER
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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> rs137852489 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852489;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/rs137852489?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=rs137852489" 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=rs137852489" 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=RCV000010746 OR RCV000631414 OR RCV004700213" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010746, RCV000631414, RCV004700213" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010746...</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><a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> described this mutation in cell line RJK1930 from a patient with LNS (<a href="/entry/300322">300322</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0019" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0019 LESCH-NYHAN SYNDROME</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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HPRT, HIS203ASP
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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">rs137852490 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852490;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=rs137852490" 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=rs137852490" 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=RCV000010747 OR RCV001250108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010747, RCV001250108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010747...</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><a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> described this mutation in cell line RJK1874 from a patient with LNS (<a href="/entry/300322">300322</a>). <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found the same mutation in an unrelated patient with LNS (RJK2019). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2928313+2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0020" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0020 LESCH-NYHAN SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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<div style="float: left;">
|
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HPRT, ARG44LYS
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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> rs137852491 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852491;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/rs137852491?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=rs137852491" 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=rs137852491" 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">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010748" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010748" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010748</a>
|
|
</span>
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|
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|
</div>
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<div>
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<span class="mim-text-font">
|
|
<p><a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> described this mutation in cell line RJK2163 from a patient with LNS (<a href="/entry/300322">300322</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0021" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0021 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
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HPRT, ASP176TYR
|
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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">rs137852492 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852492;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=rs137852492" 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=rs137852492" 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">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010749</a>
|
|
</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><a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> described this mutation in cell line RJK2185 from a patient with LNS (<a href="/entry/300322">300322</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0022" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0022 MOVED TO <a href="/entry/308000#0009">308000.0009</a></strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0023" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0023 MOVED TO <a href="/entry/308000#0007">308000.0007</a></strong>
|
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0024" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>.0024 LESCH-NYHAN SYNDROME</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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HPRT, 2-BP DEL, GT
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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=RCV000010750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010750</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 cell line RJK1747 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of 2 nucleotides (GT) causing a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0025" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0025 REMOVED FROM DATABASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0026" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0026 LESCH-NYHAN SYNDROME</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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HPRT, 1-BP DEL, TTA-TA
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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=RCV000010751" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010751" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010751</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 cell line RJK1939 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of 1 nucleotide (TTA-to-TA) resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 LESCH-NYHAN SYNDROME</strong>
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HPRT, 1-BP DEL, TTG-TG
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010752</a>
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<p>In cell line RJK2019 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of 1 nucleotide (TTG-to-TG) resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 LESCH-NYHAN SYNDROME</strong>
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HPRT, 40-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010753</a>
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<p>In cell line RJK2108 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of 40 nucleotides resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0029" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0029 LESCH-NYHAN SYNDROME</strong>
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HPRT, IVS8DS, G-A, +5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569360139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569360139;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=rs1569360139" 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=rs1569360139" 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=RCV000010754 OR RCV001571220 OR RCV004545723" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010754, RCV001571220, RCV004545723" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010754...</a>
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<p>In cell line RJK888 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found a G-to-A change of the fifth nucleotide in intron 8 causing a defect in splicing because of the change in the donor site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0030" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0030 LESCH-NYHAN SYNDROME</strong>
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</h4>
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HPRT, IVS8AS, ATAG-TTTG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs672601245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs672601245;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=rs672601245" 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=rs672601245" 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=RCV000010755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010755</a>
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</span>
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<p>In cell line RJK906 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found an ATAG-to-TTTG change in the last 4 nucleotides of intron 8. Interference with processing resulted from mutation in the acceptor splice site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0031" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0031 LESCH-NYHAN SYNDROME</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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<div style="float: left;">
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HPRT, IVS7DS, G-A, +5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569360089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569360089;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=rs1569360089" 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=rs1569360089" 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=RCV000010756" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010756" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010756</a>
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</span>
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<span class="mim-text-font">
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<p>In cell line RJK1934 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found a GTAAGT-to-GTAAAT change at the beginning of intron 7. Interference with processing resulted from mutation in the donor splice site. See <a href="#0029">308000.0029</a> for the corresponding mutation in intron 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<h4>
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<span class="mim-font">
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<strong>.0032 LESCH-NYHAN SYNDROME</strong>
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</span>
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</h4>
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</div>
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HPRT, IVS1AS, A-T, -2
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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">rs1569354918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569354918;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=rs1569354918" 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=rs1569354918" 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=RCV000010757 OR RCV004549355" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010757, RCV004549355" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010757...</a>
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</span>
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<p>In cell line RJK1760 from a patient (CB) with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found an AG-to-TG change in the last 2 nucleotides of intron 1. Interference with processing resulted from mutation in the acceptor splice site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0033 LESCH-NYHAN SYNDROME</strong>
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HPRT, PRO176LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852493 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852493;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=rs137852493" 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=rs137852493" 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=RCV000010758" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010758" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010758</a>
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<p><a href="#17" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> referred to their observations concerning this mutation. The substitution predicts loss in beta-turn structure and change in hydrophilicity which may be essential to normal enzymatic function since this and the Evansville and Milwaukee mutations have greatly diminished or undetectable enzyme activity. (<a href="#20" class="mim-tip-reference" title="Davidson, B. L. <strong>Personal Communication.</strong> Ann Arbor, Mich. 1990."None>Davidson (1990)</a> identified the mutation as pro176leu rather than pro174leu as published.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0034 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT TORONTO
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HPRT, ARG51GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852494 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852494;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=rs137852494" 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=rs137852494" 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=RCV000010759 OR RCV000010760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010759, RCV000010760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010759...</a>
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<p>In a patient with gout (HRH; <a href="/entry/300323">300323</a>), <a href="#142" class="mim-tip-reference" title="Wilson, J. M., Frossard, P., Nussbaum, R. L., Caskey, C. T., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis.</strong> J. Clin. Invest. 72: 767-772, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6309910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6309910</a>] [<a href="https://doi.org/10.1172/JCI111047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6309910">Wilson et al. (1983)</a> found substitution of glycine (GGA) for arginine-51 (CGA) in the HPRT gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6309910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0035" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0035 LESCH-NYHAN SYNDROME</strong>
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HPRT FUJIMI
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HPRT, ARG51TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852494 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852494;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=rs137852494" 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=rs137852494" 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=RCV000010761 OR RCV000010762 OR RCV000153366 OR RCV001224361 OR RCV001252944" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010761, RCV000010762, RCV000153366, RCV001224361, RCV001252944" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010761...</a>
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<p>In a Japanese patient with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), <a href="#42" class="mim-tip-reference" title="Fujimori, S., Kamatani, N., Nishida, Y., Ogasawara, N., Akaoka, I. <strong>Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.</strong> Hum. Genet. 84: 483-486, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2323782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2323782</a>] [<a href="https://doi.org/10.1007/BF00195826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2323782">Fujimori et al. (1990)</a> identified a change of codon 51 from CGA(arg) to TGA(stop). The same codon, although a different nucleotide, is involved in HPRT(Toronto). HPRT(Toronto) is associated with incomplete deficiency leading to gout and not the Lesch-Nyhan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2323782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0036" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0036 LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT</strong>
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</h4>
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<span class="mim-text-font">
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HPRT MONTREAL
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HPRT, MET56THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852495 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852495;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=rs137852495" 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=rs137852495" 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=RCV000010763 OR RCV000010764 OR RCV004545724" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010763, RCV000010764, RCV004545724" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010763...</a>
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<p><a href="#126" class="mim-tip-reference" title="Skopek, T. R., Recio, L., Simpson, D., Dallaire, L., Melancon, S. B., Ogier, H., O'Neill, J. P., Falta, M. T., Nicklas, J. A., Albertini, R. J. <strong>Molecular analyses of a Lesch-Nyhan syndrome mutation (HPRT-Montreal) by use of T-lymphocyte cultures.</strong> Hum. Genet. 85: 111-116, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358296</a>] [<a href="https://doi.org/10.1007/BF00276334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2358296">Skopek et al. (1990)</a> used DNA from peripheral blood T-lymphocytes to demonstrate a single base substitution (T-to-C transition) at position 170 (exon 3). The predicted amino acid change was a substitution of threonine for methionine-56. The probands were 2 male children in a French Canadian family. Both had developmental delay, mainly motor in nature, and were confined to a wheelchair by age 5. Neither had aggressive behavior or self-mutilation (see <a href="/entry/300322">300322</a>). HPRT activities were 18% and 10% of parental values for the older and younger boy, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0037" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0037 LESCH-NYHAN SYNDROME</strong>
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</span>
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</h4>
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HPRT, MET143LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852496 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852496;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=rs137852496" 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=rs137852496" 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=RCV000010765" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010765" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010765</a>
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<div>
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<span class="mim-text-font">
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<p>In patient GB (RJK1210) with LNS (<a href="/entry/300322">300322</a>), <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> found a TGC-to-AGC change at nucleotide 428 in exon 6, causing a met143-to-lys substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2928313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<strong>.0038 LESCH-NYHAN SYNDROME</strong>
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HPRT, ARG170TER
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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> rs137852497 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852497;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/rs137852497?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=rs137852497" 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=rs137852497" 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=RCV000010766 OR RCV003764548" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010766, RCV003764548" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010766...</a>
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<p>In patient JC (RJK 974) with LNS (<a href="/entry/300322">300322</a>), <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> found a CGA-to-TGA change in codon 170. In a family containing at least 3 males with Lesch-Nyhan syndrome, <a href="#81" class="mim-tip-reference" title="Marcus, S., Steen, A.-M., Andersson, B., Lambert, B., Kristoffersson, U., Francke, U. <strong>Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.</strong> Hum. Genet. 89: 395-400, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618489</a>] [<a href="https://doi.org/10.1007/BF00194310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1618489">Marcus et al. (1992)</a> identified a nonsense mutation at the CpG site in the codon for arginine-169, by genomic PCR and DNA sequencing in cultured fibroblasts. The recurrence of mutation at this site in several unrelated Lesch-Nyhan families suggested deamination of 5-methylcytosine as a mechanism for mutagenesis. The level of HPRT mRNA in the fibroblasts of the patients was similar to that in healthy controls, whereas HPRT enzyme activity was not detectable. A noncarrier phenotype was found in hair follicle analyses and fibroblast selection studies in 8-azaguanine and 6-thioguanine medium in 3 of the obligatory female heterozygotes, whereas X-inactivation mosaicism was demonstrated in 1 heterozygote. <a href="#81" class="mim-tip-reference" title="Marcus, S., Steen, A.-M., Andersson, B., Lambert, B., Kristoffersson, U., Francke, U. <strong>Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.</strong> Hum. Genet. 89: 395-400, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618489</a>] [<a href="https://doi.org/10.1007/BF00194310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1618489">Marcus et al. (1992)</a> raised the possibility that the HPRT mutation was associated with an undefined X-linked lethal mutation leading to the nonrandom X-inactivation. The observation is of practical relevance for carrier detection in other Lesch-Nyhan families. The mutation called ARG169TER by <a href="#81" class="mim-tip-reference" title="Marcus, S., Steen, A.-M., Andersson, B., Lambert, B., Kristoffersson, U., Francke, U. <strong>Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.</strong> Hum. Genet. 89: 395-400, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618489</a>] [<a href="https://doi.org/10.1007/BF00194310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1618489">Marcus et al. (1992)</a> is the same as that numbered arg170-to-ter by <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a>. <a href="#135" class="mim-tip-reference" title="Tarle, S. A., Davidson, B. L., Wu, V. C., Zidar, F. J., Seegmiller, J. E., Kelley, W. N., Palella, T. D. <strong>Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.</strong> Genomics 10: 499-501, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071157</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90341-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2071157">Tarle et al. (1991)</a> found the same mutation. <a href="#81" class="mim-tip-reference" title="Marcus, S., Steen, A.-M., Andersson, B., Lambert, B., Kristoffersson, U., Francke, U. <strong>Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.</strong> Hum. Genet. 89: 395-400, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1618489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1618489</a>] [<a href="https://doi.org/10.1007/BF00194310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1618489">Marcus et al. (1992)</a> quoted Gibbs as having found 3 additional unrelated patients with the same mutation which may account for about 15% of the base substitution mutations identified so far. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2928313+1618489+2071157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="De Gregorio, L., Nyhan, W. L., Serafin, E., Chamoles, N. A. <strong>An unexpected affected female patient in a classical Lesch-Nyhan family.</strong> Molec. Genet. Metab. 69: 263-268, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767182</a>] [<a href="https://doi.org/10.1006/mgme.2000.2967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767182">De Gregorio et al. (2000)</a> reported an Argentinian family in which a 22-year-old male and his 8-year-old sister had clinically identical classic features of LNS. The mother and an older daughter were carriers and had normal phenotypes. The affected sister was karyotypically normal and heterozygous for the R169X mutation. She inherited the HPRT mutation from her mother, but she had nonrandom inactivation of the paternal X chromosome carrying the normal HPRT gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10767182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0039 HYPERURICEMIA, HPRT-RELATED</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">rs2124280474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124280474;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=rs2124280474" 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=rs2124280474" 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=RCV001377126 OR RCV002280824" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001377126, RCV002280824" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001377126...</a>
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<p>In patient RT (RJK 951) with gout (HRH; <a href="/entry/300323">300323</a>), <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> found deletion of 13 nucleotides of which the first was 12 nucleotides 5-prime to the initiation codon in the HPRT gene. With the loss of the first nucleotide of the initiation codon, initiation in-frame may have occurred downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2928313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0040 LESCH-NYHAN SYNDROME</strong>
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HPRT, EX2DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010768" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010768" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010768</a>
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<p>In patient MG (RJK1780) with LNS (<a href="/entry/300322">300322</a>), <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0041 LESCH-NYHAN SYNDROME</strong>
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HPRT, EX4-9DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010769" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010769" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010769</a>
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<p>In patient EB (RJK849) with LNS (<a href="/entry/300322">300322</a>), <a href="#151" class="mim-tip-reference" title="Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T. <strong>Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients.</strong> Nature 310: 412-414, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087154</a>] [<a href="https://doi.org/10.1038/310412a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6087154">Yang et al. (1984)</a> found deletion of exons 4 to 9, inclusive. No mRNA was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6087154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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HPRT, EX6-9DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010770" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010770" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010770</a>
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<p>In patient EB (RJK984) with LNS (<a href="/entry/300322">300322</a>), <a href="#132" class="mim-tip-reference" title="Stout, J. T., Caskey, C. T. <strong>HPRT: gene structure, expression, and mutation.</strong> Annu. Rev. Genet. 19: 127-148, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3909940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3909940</a>] [<a href="https://doi.org/10.1146/annurev.ge.19.120185.001015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3909940">Stout and Caskey (1985)</a> and <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> demonstrated deletion of exons 6 to 9, inclusive. No mRNA was demonstrable. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2347587+3909940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0043 LESCH-NYHAN SYNDROME</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010771" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010771" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010771</a>
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<p>Using restriction fragment and Southern blot analysis, <a href="#151" class="mim-tip-reference" title="Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T. <strong>Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients.</strong> Nature 310: 412-414, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087154</a>] [<a href="https://doi.org/10.1038/310412a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6087154">Yang et al. (1984)</a> predicted a partial HPRT gene deletion including exons 7, 8, and 9 in cell line GM3467 from a patient with LNS (<a href="/entry/300322">300322</a>). By multiplex amplification of the HPRT locus, <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> demonstrated deletion of exon 9 and the presence of exons 7 and 8 in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6087154+2347587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<strong>.0044 LESCH-NYHAN SYNDROME</strong>
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HPRT, DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010772" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010772" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010772</a>
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<p>In patient BM (RJK853) with LNS (<a href="/entry/300322">300322</a>), <a href="#151" class="mim-tip-reference" title="Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T. <strong>Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients.</strong> Nature 310: 412-414, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087154</a>] [<a href="https://doi.org/10.1038/310412a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6087154">Yang et al. (1984)</a> and <a href="#50" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., Edwards, A., Civitello, A. B., Caskey, C. T. <strong>Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.</strong> Genomics 7: 235-244, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347587</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347587">Gibbs et al. (1990)</a> found deletion of the entire HPRT gene. Deletion of the entire gene was found also in a female patient with LNS (<a href="#101" class="mim-tip-reference" title="Ogasawara, N., Stout, J. T., Goto, H., Sonta, S., Matsumoto, A., Caskey, C. T. <strong>Molecular analysis of a female Lesch-Nyhan patient.</strong> J. Clin. Invest. 84: 1024-1027, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2760209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2760209</a>] [<a href="https://doi.org/10.1172/JCI114224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2760209">Ogasawara et al., 1989</a>). No mRNA was present in either case. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6087154+2347587+2760209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0045" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0045 LESCH-NYHAN SYNDROME</strong>
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HPRT,1-BP INS, 207G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200980 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200980;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=rs786200980" 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=rs786200980" 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=RCV000153367 OR RCV001198061 OR RCV001229151" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000153367, RCV001198061, RCV001229151" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000153367...</a>
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<p>In patient CW (RJK866) with LNS (<a href="/entry/300322">300322</a>), <a href="#51" class="mim-tip-reference" title="Gibbs, R. A., Nguyen, P.-N., McBride, L. J., Koepf, S. M., Caskey, C. T. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.</strong> Proc. Nat. Acad. Sci. 86: 1919-1923, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2928313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2928313</a>] [<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2928313">Gibbs et al. (1989)</a> found insertion of a single guanine nucleotide at about nucleotide 207 of the cDNA. The resulting frameshift produced a protein with 84 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2928313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0046 LESCH-NYHAN SYNDROME</strong>
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HPRT, INV/DEL, EX6-9
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010774" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010774" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010774</a>
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<p>In GM2227 from a patient with LNS (<a href="/entry/300322">300322</a>), <a href="#27" class="mim-tip-reference" title="Edwards, A., Caskey, C. T. <strong>Personal Communication.</strong> Houston, Tex. 8/1990."None>Edwards and Caskey (1990)</a> found a complex rearrangement involving inversion and deletion of exons 6 to 9. No mRNA was found.</p>
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<span class="mim-font">
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<strong>.0047 LESCH-NYHAN SYNDROME</strong>
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HPRT, EX2-3DUP, IVS1DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010775" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010775" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010775</a>
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<p>In GM1662 and GM6804 from patients with LNS (<a href="/entry/300322">300322</a>), Yang et al.(1984, 1988) found a complex rearrangement involving duplication of exons 2 and 3 and deletion of intron 1. Increased size of mRNA was observed. <a href="#92" class="mim-tip-reference" title="Monnat, R. J., Jr., Chiaverotti, T. A., Hackmann, A. F. M., Maresh, G. A. <strong>Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications.</strong> Genomics 13: 788-796, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639405</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90154-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639405">Monnat et al. (1992)</a> demonstrated that the duplication in GM6804 was generated by the nonhomologous insertion of duplicated HPRT DNA into HPRT intron 1. They found that the duplication was genetically unstable and had a reversion rate approximately 100-fold higher than the rate of duplication formation. Exons 2 and 3, together with 13.7 kb of surrounding HPRT sequence, were duplicated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0048" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0048 HYPERURICEMIA, HPRT-RELATED</strong>
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<span class="mim-text-font">
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HPRT BRISBANE
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HPRT, THR168ILE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852498 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852498;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=rs137852498" 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=rs137852498" 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=RCV000010776" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010776" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010776</a>
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<p>In a patient with urate overproduction and gout (HRH; <a href="/entry/300323">300323</a>), <a href="#53" class="mim-tip-reference" title="Gordon, R. B., Sculley, D. G., Dawson, P. A., Beacham, I. R., Emmerson, B. T. <strong>Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRT-Brisbane).</strong> J. Inherit. Metab. Dis. 13: 692-700, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246854</a>] [<a href="https://doi.org/10.1007/BF01799570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2246854">Gordon et al. (1990)</a> found a C-to-T transition which predicted an amino acid substitution of isoleucine for threonine at amino acid 168 of the HPRT protein. The nucleotide substitution created a BamHI site, confirming a RFLP previously observed in this patient. In red cell lysates, the patient had approximately 10% of normal HPRT activity and 26% of immunoidentical HPRT protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2246854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0049" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0049 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT URANGAN
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HPRT, GLY16SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852499 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852499;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=rs137852499" 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=rs137852499" 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=RCV000010777 OR RCV000010778" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010777, RCV000010778" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010777...</a>
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<p>In a patient with partial HPRT deficiency (enzyme activity less than 0.1%; <a href="/entry/300323">300323</a>), <a href="#116" class="mim-tip-reference" title="Sculley, D. G., Dawson, P. A., Beacham, I. R., Emmerson, B. T., Gordon, R. B. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.</strong> Hum. Genet. 87: 688-692, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937471</a>] [<a href="https://doi.org/10.1007/BF00201727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937471">Sculley et al. (1991)</a> identified a G-to-A mutation at nucleotide 145 resulting in a substitution of serine for glycine-16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0050" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0050 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT TOOWONG
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HPRT, GLY58ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852500;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=rs137852500" 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=rs137852500" 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=RCV000010779 OR RCV000010780" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010779, RCV000010780" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010779...</a>
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<p>In a patient with partial HPRT deficiency (enzyme activity = 10%; <a href="/entry/300323">300323</a>), <a href="#116" class="mim-tip-reference" title="Sculley, D. G., Dawson, P. A., Beacham, I. R., Emmerson, B. T., Gordon, R. B. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.</strong> Hum. Genet. 87: 688-692, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937471</a>] [<a href="https://doi.org/10.1007/BF00201727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937471">Sculley et al. (1991)</a> identified a G-to-A mutation at nucleotide 271 resulting in a substitution of arginine for glycine-58. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0051" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0051 HYPERURICEMIA, HPRT-RELATED</strong>
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</h4>
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<span class="mim-text-font">
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HPRT SWAN
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<div style="float: left;">
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HPRT, LEU78VAL
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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">rs137852501 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852501;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=rs137852501" 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=rs137852501" 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=RCV000010781 OR RCV000010782" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010781, RCV000010782" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010781...</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 patient with partial HPRT deficiency (enzyme activity = 10%; <a href="/entry/300323">300323</a>), <a href="#116" class="mim-tip-reference" title="Sculley, D. G., Dawson, P. A., Beacham, I. R., Emmerson, B. T., Gordon, R. B. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.</strong> Hum. Genet. 87: 688-692, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937471</a>] [<a href="https://doi.org/10.1007/BF00201727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937471">Sculley et al. (1991)</a> found a C-to-G mutation at nucleotide 331 resulting in substitution of valine for leucine-78. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0052" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0052 LESCH-NYHAN SYNDROME</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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HPRT CHERMSIDE
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</span>
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<span class="mim-text-font">
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<div style="float: left;">
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HPRT, EX6DEL
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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">rs2077673385 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2077673385;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=rs2077673385" 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=rs2077673385" 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=RCV000010783 OR RCV001255650 OR RCV003764549" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010783, RCV001255650, RCV003764549" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010783...</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 patient with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), <a href="#52" class="mim-tip-reference" title="Gordon, R. B., Dawson, P. A., Sculley, D. G., Emmerson, B. T., Caskey, C. T., Gibbs, R. A. <strong>The molecular characterisation of HPRT(Chermside) and HPRT(Coorparoo): two Lesch-Nyhan patients with reduced amounts of mRNA.</strong> Gene 108: 299-304, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840549</a>] [<a href="https://doi.org/10.1016/0378-1119(91)90450-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1840549">Gordon et al. (1991)</a> demonstrated a G-to-A transition in the first nucleotide of intron 6 resulting in deletion of the 83 bp comprising exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0053" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0053 LESCH-NYHAN SYNDROME</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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HPRT COORPAROO
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</span>
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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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HPRT, 1-BP INS, 14823T
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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">rs2077615719 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2077615719;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=rs2077615719" 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=rs2077615719" 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=RCV000010785 OR RCV001255651" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010785, RCV001255651" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010785...</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 patient with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), <a href="#52" class="mim-tip-reference" title="Gordon, R. B., Dawson, P. A., Sculley, D. G., Emmerson, B. T., Caskey, C. T., Gibbs, R. A. <strong>The molecular characterisation of HPRT(Chermside) and HPRT(Coorparoo): two Lesch-Nyhan patients with reduced amounts of mRNA.</strong> Gene 108: 299-304, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840549</a>] [<a href="https://doi.org/10.1016/0378-1119(91)90450-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1840549">Gordon et al. (1991)</a> identified an insertion of a T nucleotide at either nucleotide 14823 or 14824. This placed a stop codon in frame, resulting in premature termination of translation of the HPRT mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0054" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0054 HYPERURICEMIA, HPRT-RELATED</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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HPRT EDINBURGH
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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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<div style="float: left;">
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HPRT, ASP52GLY
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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">rs137852502 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852502;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=rs137852502" 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=rs137852502" 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=RCV000010787 OR RCV000010788 OR RCV002512965" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010787, RCV000010788, RCV002512965" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010787...</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><a href="#128" class="mim-tip-reference" title="Snyder, F. F., Joyce, J. E., Carter-Edwards, T., Joshi, R., Rylance, H. L., Wallace, R. C., Nuki, G. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRT(Edinburgh), having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.</strong> J. Inherit. Metab. Dis. 12: 390-402, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2516172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2516172</a>] [<a href="https://doi.org/10.1007/BF01802034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2516172">Snyder et al. (1989)</a> described 3 brothers who developed acute gouty arthritis (HRH; <a href="/entry/300323">300323</a>) between ages 16 and 26 years. One brother had an episode of renal failure at the age of 5 and one suffered an attack of renal colic at age 12. None had evidence of neurologic disturbance but the youngest had epileptic episodes. Lymphoblasts established from these patients had detectable, but less than 2%, HPRT activity. <a href="#76" class="mim-tip-reference" title="Lightfoot, T., Joshi, R., Nuki, G., Snyder, F. F. <strong>The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRT-Edinburgh) and detection by allele-specific polymerase chain reaction.</strong> Hum. Genet. 88: 695-696, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1551676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1551676</a>] [<a href="https://doi.org/10.1007/BF02265300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1551676">Lightfoot et al. (1992)</a> demonstrated an A-to-G transition at base 155 in exon 3 predicting a change in aspartic acid 52 to glycine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1551676+2516172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<br />
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</div>
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<strong>.0055 LESCH-NYHAN SYNDROME</strong>
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HPRT TOKYO
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HPRT, GLY140ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852503;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=rs137852503" 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=rs137852503" 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=RCV000010789 OR RCV000010790 OR RCV001857327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010789, RCV000010790, RCV001857327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010789...</a>
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<p>In a Japanese patient with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), Fujimori et al. (1991, 1992) found a G-to-A transition at nucleotide 419 which predicted a single amino acid substitution of an aspartic acid for a glycine at position 140. The amino acid substitution was located within the putative 5-phosphoribosyl-1-pyrophosphate (PRPP) binding region.</p>
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<a id="0056" class="mim-anchor"></a>
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<strong>.0056 HYPERURICEMIA, HPRT-RELATED</strong>
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HPRT MOOSE JAW
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HPRT, ASP194GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852504 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852504;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=rs137852504" 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=rs137852504" 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=RCV000010791 OR RCV000010792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010791, RCV000010792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010791...</a>
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<p><a href="#127" class="mim-tip-reference" title="Snyder, F. F., Chudley, A. E., MacLeod, P. M., Carter, R. J., Fung, E., Lowe, J. K. <strong>Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.</strong> Hum. Genet. 67: 18-22, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6204922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6204922</a>] [<a href="https://doi.org/10.1007/BF00270552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6204922">Snyder et al. (1984)</a> described a family in which 4 males had gout with partial HPRT deficiency (HRH; <a href="/entry/300323">300323</a>) and reduced affinity of the enzyme for PPRP. The proband was a slow learner and stutterer, but none of the 4 had major neurologic abnormalities. One had died of renal failure, presumably due to gouty kidney at age 32. Called HPRT-Moose Jaw, the mutation in this Canadian family was due to a C-to-G transversion at nucleotide 582 (relative to initiation of translation) resulting in substitution of aspartate-194 by glutamate. <a href="#77" class="mim-tip-reference" title="Lightfoot, T., Lewkonia, R. M., Snyder, F. F. <strong>Sequence, expression and characterization of HPRT-Moose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.</strong> Hum. Molec. Genet. 3: 1377-1381, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987318</a>] [<a href="https://doi.org/10.1093/hmg/3.8.1377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7987318">Lightfoot et al. (1994)</a> demonstrated that the K(m) of the mutant protein for hypoxanthine was increased 12-fold and the apparent K(m) for PPRP was increased 44-fold. Although the turnover number or k(cat) of the mutant protein was equivalent to that of the wildtype, the catalytic efficiency of the purified mutant protein was only 6% and 3% of that of the wildtype with hypoxanthine and PPRP, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7987318+6204922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0057" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0057 LESCH-NYHAN SYNDROME</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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HPRT PARIS
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<div style="float: left;">
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HPRT, TYR153TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852505 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852505;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=rs137852505" 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=rs137852505" 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=RCV000010793 OR RCV000010794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010793, RCV000010794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010793...</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#137" class="mim-tip-reference" title="van Bogaert, P., Ceballos, I., Desguerre, I., Telvi, L., Kamoun, P., Ponsot, G. <strong>Lesch Nyhan syndrome in a girl.</strong> J. Inherit. Metab. Dis. 15: 790-791, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1434518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1434518</a>] [<a href="https://doi.org/10.1007/BF01800022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1434518">Van Bogaert et al. (1992)</a> described a typical case of Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>) in a female patient. <a href="#1" class="mim-tip-reference" title="Aral, B., de Saint Basile, G., Al-Garawi, S., Kamoun, P., Ceballos-Picot, I. <strong>Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.</strong> Hum. Mutat. 7: 52-58, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664901</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664901">Aral et al. (1996)</a> demonstrated that the molecular basis of HPRT deficiency in this patient was a previously undescribed nucleotide substitution in exon 6. The gene, designated HPRT Paris, showed a single nucleotide substitution from T to G at base position 558, changing tyrosine-153 (TAT) to a stop codon (TAG). The mother showed a normal HPRT sequence, indicating that the mutation arose through a de novo gametic event. Allele-specific amplification of exon 6 confirmed the single-base substitution and showed that the patient was heterozygous. Investigation of X-chromosomal inactivation by comparison of the methylation patterns of the patient's DNA indicated a nonrandom pattern of X-chromosomal inactivation with preferential inactivation of the maternal allele. Thus, the authors concluded that the lack of HPRT activity in this female patient was the result of a de novo point mutation in the paternal gene combined with selective inactivation of the maternal gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1434518+8664901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0058" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0058 LESCH-NYHAN SYNDROME</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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<div style="float: left;">
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HPRT, 2969-BP DEL, NT970
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010795</a>
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<p>In 2 Japanese patients with Lesch-Nyhan syndrome (<a href="/entry/300322">300322</a>), <a href="#89" class="mim-tip-reference" title="Mizunuma, M., Fujimori, S., Ogino, H., Ueno, T., Inoue, H., Kamatani, N. <strong>A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.</strong> Hum. Mutat. 18: 435-443, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668636</a>] [<a href="https://doi.org/10.1002/humu.1214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668636">Mizunuma et al. (2001)</a> detected the identical large genomic deletion, which spanned from an Alu sequence in a promoter region to another Alu sequence in intron 1, a length of 2,969 basepairs including exon 1. They concluded that this identical deletion in the HPRT1 gene in 2 patients was derived from recurrent events of genomic recombination, since mitochondrial DNA showed differences in the 2 cases. Mitochondrial DNA was considered a valid gauge, since HPRT1 mutations and mitochondrial DNA cotransmitted from carrier mother to offspring. The same Alu-mediated deletion of HPRT1 had not been reported among somatic mutations at this locus, suggesting that the region of the HPRT1 gene flanked by Alu sequences is a mutation hotspot in the germline but not in somatic cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0059" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0059 HYPERURICEMIA, HPRT-RELATED</strong>
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</span>
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</h4>
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HPRT, LEU65PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852506;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=rs137852506" 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=rs137852506" 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=RCV000010796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010796</a>
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<p>In a 12-year-old boy with partial HPRT deficiency (HRH; <a href="/entry/300323">300323</a>) who presented with recurrent acute renal failure from hyperuricemia and had no phenotypic features of Lesch-Nyhan syndrome, <a href="#130" class="mim-tip-reference" title="Srivastava, T., O'Neill, J. P., Dasouki, M., Simckes, A. M. <strong>Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.</strong> Am. J. Med. Genet. 108: 219-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891689</a>] [<a href="https://doi.org/10.1002/ajmg.10217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891689">Srivastava et al. (2002)</a> identified a C-to-T transition at nucleotide 193 in exon 3 of the HPRT gene, resulting in a leu65-to-phe substitution. Red blood cell lysates had less than 10% of normal HPRT activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0060" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0060 LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT</strong>
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<span class="mim-text-font">
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HYPERURICEMIA, HPRT-RELATED, INCLUDED
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HPRT, ARG48HIS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022877 OR RCV000690811 OR RCV001092162 OR RCV001255647 OR RCV003398561" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022877, RCV000690811, RCV001092162, RCV001255647, RCV003398561" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022877...</a>
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<p>In 9 patients from 7 unrelated families with the neurologic variant of Lesch-Nyhan syndrome (see <a href="/entry/300322">300322</a>), <a href="#114" class="mim-tip-reference" title="Sampat, R., Fu, R., Larovere, L. E., Torres, R. J., Ceballos-Picot, I., Fischbach, M., de Kremer, R., Schretlen, D. J., Puig, J. G., Jinnah, H. A. <strong>Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.</strong> Hum. Genet. 129: 71-78, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20981450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20981450</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20981450[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/10.1007/s00439-010-0901-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20981450">Sampat et al. (2011)</a> identified a 143G-A transition in the HPRT gene, resulting in an arg48-to-his (R48H) substitution in an alpha-2 helix at the interface between dimerization of the protein. An additional patient with hyperuricemia and impulsive/oppositional behavior, whom the authors classified as having HPRT-related hyperuricemia (HRH; <a href="/entry/300323">300323</a>), also carried the mutation. The mutation likely arose independently multiple times, because it occurred at a CpG motif. There was almost no detectable HPRT enzyme activity in patient erythrocytes, but there was some residual activity in patient fibroblasts. Kinetic studies in E. coli showed that the mutant enzyme had normal affinity for hypoxanthine and guanine, but V(max) was decreased by 33% and 37% for those substrates, respectively, compared to wildtype. However, additional studies showed that the mutant protein had poor thermal stability, with only 16% residual activity at 37 degrees C and undetectable activity at 55 degrees C, which may have explained the variable phenotypic consequences in mutation carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20981450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#Benke1973" class="mim-tip-reference" title="Benke, P. J., Herrick, N., Hebert, A. <strong>Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.</strong> J. Clin. Invest. 52: 2234-2240, 1973.">Benke et al. (1973)</a>; <a href="#Benke1973" class="mim-tip-reference" title="Benke, P. J., Herrick, N., Hebert, A. <strong>Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.</strong> J. Clin. Invest. 52: 2234-2240, 1973.">Benke et al. (1973)</a>; <a href="#Bland1968" class="mim-tip-reference" title="Bland, J. H. <strong>Proceedings of seminars on the Lesch-Nyhan syndrome.</strong> Fed. Proc. 27: 1017-1112, 1968.">Bland (1968)</a>; <a href="#Brennand1982" class="mim-tip-reference" title="Brennand, J., Chinault, A. C., Konecki, D. S., Melton, D. W., Caskey, C. T. <strong>Cloned cDNA sequences of the hypoxanthine-guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.</strong> Proc. Nat. Acad. Sci. 79: 1950-1954, 1982.">Brennand et
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al. (1982)</a>; <a href="#Caskey1979" class="mim-tip-reference" title="Caskey, C. T., Kruh, G. D. <strong>The HPRT locus: review.</strong> Cell 16: 1-9, 1979.">Caskey and Kruh (1979)</a>; <a href="#Chinault1984" class="mim-tip-reference" title="Chinault, A. C., Caskey, C. T. <strong>The hypoxanthine phosphoribosyltransferase gene: a model for the study of mutation in mammalian cells.</strong> Prog. Nucleic Acid Res. Molec. Biol. 31: 295-313, 1984.">Chinault and Caskey (1984)</a>; <a href="#Cox1970" class="mim-tip-reference" title="Cox, R. P., Krauss, M. R., Balis, M. E., Dancis, J. <strong>Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nyhan disease and normal cells.</strong> Proc. Nat. Acad. Sci. 67: 1573-1579, 1970.">Cox
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et al. (1970)</a>; <a href="#Dancis1973" class="mim-tip-reference" title="Dancis, J., Yip, L. C., Cox, R. P., Piomelli, S., Balis, M. E. <strong>Disparate enzyme activity in erythrocytes and leukocytes: a variant of hypoxanthine phosphoribosyltransferase deficiency with an unstable enzyme.</strong> J. Clin. Invest. 52: 2068-2074, 1973.">Dancis et al. (1973)</a>; <a href="#Davidson1988" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Genetic basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRT-Flint).</strong> Gene 63: 331-336, 1988.">Davidson et al. (1988)</a>; <a href="#Davidson1989" class="mim-tip-reference" title="Davidson, B. L., Tarle, S. A., Palella, T. D., Kelley, W. N. <strong>Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in 10 subjects determined by direct sequencing of amplified transcripts.</strong> J. Clin. Invest. 84: 342-346, 1989.">Davidson
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et al. (1989)</a>; <a href="#Davidson1991" class="mim-tip-reference" title="Davidson, B. L., Tarle, S. A., Van Antwerp, M., Gibbs, D. A., Watts, R. W. E., Kelley, W. N., Palella, T. D. <strong>Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.</strong> Am. J. Hum. Genet. 48: 951-958, 1991.">Davidson et al. (1991)</a>; <a href="#Demars1969" class="mim-tip-reference" title="Demars, R. I., Sarto, G. E., Felix, J. S., Benke, P. <strong>Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells.</strong> Science 164: 1303-1305, 1969.">Demars et al. (1969)</a>; <a href="#Dempsey1983" class="mim-tip-reference" title="Dempsey, J. L., Morley, A. A., Seshadri, R. S., Emmerson, B. T., Gordon, R., Bhagat, C. I. <strong>Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.</strong> Hum. Genet. 64: 288-290, 1983.">Dempsey
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et al. (1983)</a>; <a href="#Emmerson1972" class="mim-tip-reference" title="Emmerson, B. T., Thompson, C. J., Wallace, D. C. <strong>Partial deficiency hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.</strong> Ann. Intern. Med. 76: 285-288, 1972.">Emmerson et al. (1972)</a>; <a href="#Fox1975" class="mim-tip-reference" title="Fox, I. H., Dwosh, I. L., Marchant, P. J., Lacroix, S., Moore, M. R., Omura, S., Wyhofsky, V. <strong>Hypoxanthine-guanine phosphoribosyltransferase: characterization of a mutant in a patient with gout.</strong> J. Clin. Invest. 56: 1239-1249, 1975.">Fox et al. (1975)</a>; <a href="#Francke1979" 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 the mouse X, using Chinese hamster-mouse T(X;16)16H somatic cell hybrids. (Abstract)</strong> Cytogenet. Cell Genet. 25: 155-156, 1979.">Francke and
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Taggart (1979)</a>; <a href="#Fujimori1992" class="mim-tip-reference" title="Fujimori, S., Tagaya, T., Kamatani, N., Akaoka, I. <strong>A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.</strong> Hum. Genet. 90: 385-388, 1992.">Fujimori et al. (1992)</a>; <a href="#Fujimori1991" class="mim-tip-reference" title="Fujimori, S., Tagaya, T., Yamaoka, N., Kamatani, N., Akaoka, I. <strong>Identification of mutations leading to the Lesch-Nyhan syndrome in two unrelated Japanese patients. (Abstract)</strong> Jpn. J. Hum. Genet. 36: 58 only, 1991.">Fujimori et al. (1991)</a>; <a href="#Gibbs1984" class="mim-tip-reference" title="Gibbs, R. A., McFadyen, I. R., Crawfurd, M. d'A., de Muinck Keizer, E. E., Headhouse-Benson, C. M., Wilson, T. M., Farrant, P. H. <strong>First-trimester diagnosis of Lesch-Nyhan syndrome.</strong> Lancet 324: 1180-1183, 1984. Note: Originally Volume II.">Gibbs
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et al. (1984)</a>; <a href="#Graham1996" class="mim-tip-reference" title="Graham, G. W., Aitken, D. A., Connor, J. M. <strong>Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.</strong> Prenatal Diag. 16: 647-651, 1996.">Graham et al. (1996)</a>; <a href="#Greene1972" class="mim-tip-reference" title="Greene, M. L. <strong>Clinical features of patients with the 'partial' deficiency of the X-linked uricaciduria enzyme.</strong> Arch. Intern. Med. 130: 193-198, 1972.">Greene (1972)</a>; <a href="#Gutensohn1979" class="mim-tip-reference" title="Gutensohn, W., Jahn, H. <strong>Partial deficiency of hypoxanthine-phosphoribosyltransferase: evidence for a structural mutation in a patient with gout.</strong> Europ. J. Clin. Invest. 9: 43-47, 1979.">Gutensohn and
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Jahn (1979)</a>; <a href="#Hashimi1976" class="mim-tip-reference" title="Hashimi, S., Miller, O. J. <strong>Further evidence of X-linkage of hypoxanthine phosphoribosyl-transferase in the mouse.</strong> Cytogenet. Cell Genet. 17: 35-41, 1976.">Hashimi and Miller (1976)</a>; <a href="#Holland1983" class="mim-tip-reference" title="Holland, P. C., Dillon, M. J., Pincott, J., Simmonds, H. A., Barratt, T. M. <strong>Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.</strong> Arch. Dis. Child. 58: 831-833, 1983.">Holland et al. (1983)</a>; <a href="#Kelley1969" class="mim-tip-reference" title="Kelley, W. N., Greene, M. L., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.</strong> Ann. Intern. Med. 70: 155-206, 1969.">Kelley
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et al. (1969)</a>; <a href="#Kelley1967" class="mim-tip-reference" title="Kelley, W. N., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>A specific enzyme defect in gout associated with overproduction of uric acid.</strong> Proc. Nat. Acad. Sci. 57: 1735-1739, 1967.">Kelley et al. (1967)</a>; <a href="#Kogut1970" class="mim-tip-reference" title="Kogut, M. D., Donnell, G. N., Nyhan, W. L., Sweetman, L. <strong>Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.</strong> Am. J. Med. 48: 148-161, 1970.">Kogut et al. (1970)</a>; <a href="#Lesch1964" class="mim-tip-reference" title="Lesch, M., Nyhan, W. L. <strong>A familial disorder of uric acid metabolism and central nervous system function.</strong> Am. J. Med. 36: 561-570, 1964.">Lesch and
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Nyhan (1964)</a>; <a href="#Lloyd1981" class="mim-tip-reference" title="Lloyd, K. G., Hornykiewicz, O., Davidson, L., Shannak, K., Farley, I., Goldstein, M., Shibuya, M., Kelley, W. N., Fox, I. H. <strong>Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.</strong> New Eng. J. Med. 305: 1106-1111, 1981.">Lloyd et al. (1981)</a>; <a href="#Malleson1996" class="mim-tip-reference" title="Malleson, P. N., Fung, M. Y., Rosenberg, A. M. <strong>The incidence of pediatric rheumatic diseases: results from the Canadian Pediatric Rheumatology Association Disease Registry.</strong> J. Rheum. 23: 1981-1987, 1996.">Malleson et al. (1996)</a>; <a href="#McDonald1971" class="mim-tip-reference" title="McDonald, J. A., Kelley, W. N. <strong>Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.</strong> Science 171: 689-691, 1971.">McDonald
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and Kelley (1971)</a>; <a href="#McDonald1972" class="mim-tip-reference" title="McDonald, J. A., Kelley, W. N. <strong>Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.</strong> Biochem. Genet. 6: 21-26, 1972.">McDonald and Kelley (1972)</a>; <a href="#McKeran1975" class="mim-tip-reference" title="McKeran, R. O., Andrews, T. M., Howell, A., Gibbs, D. A., Chinn, S., Watts, R. W. E. <strong>The diagnosis of the carrier state for the Lesch-Nyhan syndrome.</strong> Quart. J. Med. 44: 189-206, 1975.">McKeran et al. (1975)</a>; <a href="#Migeon1970" class="mim-tip-reference" title="Migeon, B. R. <strong>X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.</strong> Biochem. Genet. 4: 377-383, 1970.">Migeon (1970)</a>; <a href="#Miller1983" class="mim-tip-reference" title="Miller, A. D., Jolly, D. J., Friedmann, T., Verma, I. M. <strong>A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT): gene transfer into cells obtained from humans deficient in HPRT.</strong> Proc. Nat. Acad. Sci. 80: 4709-4713, 1983.">Miller et al. (1983)</a>; <a href="#Newcombe1966" class="mim-tip-reference" title="Newcombe, D. S., Shapiro, S. L., Sheppard, G. L., Jr., Dreifuss, F. E. <strong>Treatment of X-linked primary hyperuricemia with allopurinol.</strong> JAMA 198: 315-317, 1966.">Newcombe et al. (1966)</a>; <a href="#Nussbaum1983" class="mim-tip-reference" title="Nussbaum, R. L., Crowder, W. E., Nyhan, W. L., Caskey, C. T. <strong>A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.</strong> Proc. Nat. Acad. Sci. 80: 4035-4039, 1983.">Nussbaum
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et al. (1983)</a>; <a href="#Nyhan1965" class="mim-tip-reference" title="Nyhan, W. L., Oliver, W. J., Lesch, M. <strong>A familial disorder of uric acid metabolism and central nervous system function. II.</strong> J. Pediat. 67: 257-263, 1965.">Nyhan et al. (1965)</a>; <a href="#Nyhan1967" class="mim-tip-reference" title="Nyhan, W. L., Pesek, J., Sweetman, L., Carpenter, D. G., Carter, C. H. <strong>Genetics of an X-linked disorder of uric acid metabolism and cerebral function.</strong> Pediat. Res. 1: 5-13, 1967.">Nyhan et al. (1967)</a>; <a href="#Race1968" class="mim-tip-reference" title="Race, R. R., Sanger, R. <strong>Blood Groups in Man. (5th ed.)</strong> Philadelphia: F. A. Davis Co. (pub.) 1968. P. 545.">Race and
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Sanger (1968)</a>; <a href="#Rijksen1981" class="mim-tip-reference" title="Rijksen, G., Staal, G. E. J., van der Vlist, M. J. M., Beemer, F. A., Troost, J., Gutensohn, W., van Laarhoven, J. P. R. M., de Bruyn, C. H. M. M. <strong>Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.</strong> Hum. Genet. 57: 39-47, 1981.">Rijksen et al. (1981)</a>; <a href="#Rosenbloom1967" class="mim-tip-reference" title="Rosenbloom, F. M., Kelley, W. N., Miller, J., Henderson, J. F., Seegmiller, J. E. <strong>Inherited disorder of purine metabolism: correlation between central nervous system dysfunction and biochemical defects.</strong> JAMA 202: 175-177, 1967.">Rosenbloom et al. (1967)</a>; <a href="#Sass1965" class="mim-tip-reference" title="Sass, J. K., Itabashi, H. H., Dexter, R. A. <strong>Juvenile gout with brain involvement.</strong> Arch. Neurol. 13: 639-655, 1965.">Sass
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et al. (1965)</a>; <a href="#Seegmiller1967" class="mim-tip-reference" title="Seegmiller, J. E., Rosenbloom, F. M., Kelley, W. N. <strong>Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.</strong> Science 155: 1682-1684, 1967.">Seegmiller et al. (1967)</a>; <a href="#Shapiro1966" class="mim-tip-reference" title="Shapiro, S. L., Sheppard, G. L., Jr., Dreifuss, F. E., Newcombe, D. S. <strong>X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.</strong> Proc. Soc. Exp. Biol. Med. 122: 609-611, 1966.">Shapiro et al. (1966)</a>; <a href="#Shows1975" class="mim-tip-reference" title="Shows, T. B., Brown, J. A. <strong>Human X-linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.</strong> Proc. Nat. Acad. Sci. 72: 2125-2129, 1975.">Shows
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and Brown (1975)</a>; <a href="#Sperling1970" class="mim-tip-reference" title="Sperling, O., Frank, M., Ophir, R., Liberman, U. A., Adam, A., de Vries, A. <strong>Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.</strong> Rev. Europ. Etud. Clin. Biol. 15: 942-947, 1970.">Sperling et al. (1970)</a>; <a href="#Strauss1981" class="mim-tip-reference" title="Strauss, M., Lubbe, L., Geissler, E. <strong>HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.</strong> Hum. Genet. 57: 185-188, 1981.">Strauss et al. (1981)</a>; <a href="#Toyo-Oka1975" class="mim-tip-reference" title="Toyo-Oka, T., Hanaoka, F., Akaoka, I., Yamada, M.-A. <strong>X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders: a report of a family.</strong> Clin. Genet. 7: 181-185, 1975.">Toyo-Oka et al. (1975)</a>; <a href="#Willers1977" class="mim-tip-reference" title="Willers, I., Held, K. R., Singh, S., Goedde, H. W. <strong>Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.</strong> Clin. Genet. 11: 193-200, 1977.">Willers et al. (1977)</a>; <a href="#Wilson1981" class="mim-tip-reference" title="Wilson, J. M., Baugher, B. W., Landa, L., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: purification and characterization of mutant forms of the enzyme.</strong> J. Biol. Chem. 256: 10306-10312, 1981.">Wilson et al. (1981)</a>; <a href="#Wilson1982" class="mim-tip-reference" title="Wilson, J. M., Baugher, B. W., Mattes, P. M., Daddona, P. E., Kelley, W. N. <strong>Human hypoxanthine-guanine phosphoribosyltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.</strong> J. Clin. Invest. 69: 706-715, 1982.">Wilson et al. (1982)</a>; <a href="#Wilson1983" class="mim-tip-reference" title="Wilson, J. M., Young, A. B., Kelley, W. N. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular basis of the clinical syndromes.</strong> New Eng. J. Med. 309: 900-910, 1983.">Wilson et al. (1983)</a>; <a href="#Wilson1983" class="mim-tip-reference" title="Wilson, J. M., Young, A. B., Kelley, W. N. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular basis of the clinical syndromes.</strong> New Eng. J. Med. 309: 900-910, 1983.">Wilson et al. (1983)</a>; <a href="#Wilson1983" class="mim-tip-reference" title="Wilson, J. M., Young, A. B., Kelley, W. N. <strong>Hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular basis of the clinical syndromes.</strong> New Eng. J. Med. 309: 900-910, 1983.">Wilson et al. (1983)</a>; <a href="#Winter1980" class="mim-tip-reference" title="Winter, R. M. <strong>Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.</strong> Am. J. Hum. Genet. 32: 582-588, 1980.">Winter (1980)</a>; <a href="#Yang1988" class="mim-tip-reference" title="Yang, T. P., Stout, J. T., Konecki, D. S., Patel, P. I., Alford, R. L., Caskey, C. T. <strong>Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.</strong> Somat. Cell Molec. Genet. 14: 293-303, 1988.">Yang et al. (1988)</a>; <a href="#Yu1972" class="mim-tip-reference" title="Yu, T.-F., Balis, M. E., Krenitsky, T. A., Dancis, J., Silvers, D. N., Elion, G. B., Gutman, A. B. <strong>Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.</strong> Ann. Intern. Med. 76: 255-264, 1972.">Yu et al.
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(1972)</a>; <a href="#Zannis1980" class="mim-tip-reference" title="Zannis, V. I., Gudas, L. J., Martin, D. W., Jr. <strong>Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.</strong> Biochem. Genet. 18: 1-19, 1980.">Zannis et al. (1980)</a>; <a href="#Zoref1979" class="mim-tip-reference" title="Zoref, E., Sperling, O. <strong>Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome: a sensitive marker for carrier detection.</strong> Hum. Hered. 29: 64-68, 1979.">Zoref and Sperling (1979)</a>
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197308302890903" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI107409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380020212" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.79.6.1950" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(79)90182-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp164" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0079-6603(08)60381-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.032655699" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.67.3.1573" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI107391" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113839" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0378-1119(88)90536-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114160" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.76.10.5230" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113846" target="_blank">Full Text</a>]
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<strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong>
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[<a href="https://doi.org/10.1007/BF00291707" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00195826" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00220464" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.3563511" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(84)92743-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90545-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.86.6.1919" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0378-1119(91)90450-p" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01799570" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199607)16:7<647::AID-PD932>3.0.CO;2-S" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(64)90104-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02265300" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1146/annurev.ge.19.120185.001015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00484400" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90341-b" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00316.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01800022" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01299.x" target="_blank">Full Text</a>]
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.</strong>
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[<a href="https://doi.org/10.1172/jci110499" target="_blank">Full Text</a>]
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis.</strong>
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[<a href="https://doi.org/10.1172/JCI111047" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/jci110884" target="_blank">Full Text</a>]
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase: structural alteration in a dysfunctional enzyme variant (HPRT-Munich) isolated from a patient with gout.</strong>
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase: molecular abnormality in a mutant form of the enzyme (HPRT-Toronto).</strong>
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[<a href="https://doi.org/10.1172/JCI112275" target="_blank">Full Text</a>]
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<strong>Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.</strong>
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[<a href="https://doi.org/10.1073/pnas.80.3.870" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198310133091507" target="_blank">Full Text</a>]
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<strong>Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.</strong>
|
|
Nature Genet. 3: 235-239, 1993.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8485579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8485579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8485579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0393-235" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="151" class="mim-anchor"></a>
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<a id="Yang1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T.
|
|
<strong>Molecular evidence for new mutation at the HPRT locus in Lesch-Nyhan patients.</strong>
|
|
Nature 310: 412-414, 1984.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6087154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6087154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6087154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/310412a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="152" class="mim-anchor"></a>
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<a id="Yang1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, T. P., Stout, J. T., Konecki, D. S., Patel, P. I., Alford, R. L., Caskey, C. T.
|
|
<strong>Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.</strong>
|
|
Somat. Cell Molec. Genet. 14: 293-303, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835825" 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/BF01534590" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="153" class="mim-anchor"></a>
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<a id="Yu1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, T.-F., Balis, M. E., Krenitsky, T. A., Dancis, J., Silvers, D. N., Elion, G. B., Gutman, A. B.
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<strong>Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.</strong>
|
|
Ann. Intern. Med. 76: 255-264, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5009592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5009592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5009592" 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/10.7326/0003-4819-76-2-255" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="154" class="mim-anchor"></a>
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<a id="Zannis1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zannis, V. I., Gudas, L. J., Martin, D. W., Jr.
|
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<strong>Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.</strong>
|
|
Biochem. Genet. 18: 1-19, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7387617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7387617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7387617" 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/BF00504356" target="_blank">Full Text</a>]
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<li>
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<a id="155" class="mim-anchor"></a>
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<a id="Zoref1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zoref, E., Sperling, O.
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<strong>Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome: a sensitive marker for carrier detection.</strong>
|
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Hum. Hered. 29: 64-68, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/761926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">761926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=761926" 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/10.1159/000153018" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/10/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 09/26/2017<br>Matthew B. Gross - updated : 09/26/2017<br>Cassandra L. Kniffin - updated : 4/26/2011<br>George E. Tiller - updated : 3/30/2010<br>Patricia A. Hartz - updated : 2/9/2007<br>Deborah L. Stone - updated : 4/11/2002<br>Victor A. McKusick - updated : 3/5/2002<br>Victor A. McKusick - updated : 11/29/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 2/13/2001<br>Victor A. McKusick - updated : 2/18/1999<br>Victor A. McKusick - updated : 8/13/1997<br>Victor A. McKusick - updated : 6/18/1997<br>Moyra Smith - updated : 1/7/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/13/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/30/2023<br>carol : 08/30/2023<br>carol : 11/02/2022<br>alopez : 11/01/2022<br>carol : 09/10/2020<br>carol : 09/09/2020<br>carol : 09/27/2017<br>mgross : 09/26/2017<br>mgross : 09/26/2017<br>carol : 07/15/2016<br>carol : 7/14/2016<br>carol : 7/8/2016<br>carol : 7/7/2016<br>carol : 3/10/2016<br>carol : 6/18/2014<br>carol : 10/24/2013<br>wwang : 5/12/2011<br>ckniffin : 4/26/2011<br>carol : 8/12/2010<br>carol : 5/18/2010<br>terry : 5/12/2010<br>wwang : 3/31/2010<br>wwang : 3/31/2010<br>terry : 3/30/2010<br>alopez : 3/19/2010<br>terry : 6/3/2009<br>terry : 3/31/2009<br>wwang : 11/13/2008<br>carol : 8/10/2007<br>mgross : 2/9/2007<br>mgross : 2/9/2007<br>carol : 5/27/2005<br>cwells : 11/5/2003<br>carol : 4/11/2002<br>carol : 4/11/2002<br>mgross : 3/8/2002<br>terry : 3/5/2002<br>carol : 1/15/2002<br>mcapotos : 12/12/2001<br>terry : 11/29/2001<br>mcapotos : 4/6/2001<br>carol : 4/5/2001<br>carol : 4/4/2001<br>cwells : 2/21/2001<br>terry : 2/15/2001<br>terry : 2/15/2001<br>cwells : 2/15/2001<br>cwells : 2/14/2001<br>terry : 2/13/2001<br>carol : 1/18/2000<br>carol : 9/10/1999<br>mgross : 2/26/1999<br>mgross : 2/24/1999<br>terry : 2/18/1999<br>dkim : 12/15/1998<br>dkim : 12/10/1998<br>terry : 6/18/1998<br>terry : 6/5/1998<br>terry : 6/4/1998<br>terry : 8/13/1997<br>alopez : 7/29/1997<br>alopez : 7/8/1997<br>carol : 6/23/1997<br>jenny : 6/23/1997<br>mark : 6/18/1997<br>mark : 1/11/1997<br>jamie : 1/7/1997<br>mark : 1/7/1997<br>jamie : 12/19/1996<br>terry : 12/13/1996<br>terry : 8/15/1996<br>terry : 7/29/1996<br>terry : 6/28/1996<br>terry : 6/28/1996<br>mark : 6/24/1996<br>terry : 6/12/1996<br>terry : 3/26/1996<br>mark : 2/1/1996<br>mark : 1/31/1996<br>terry : 1/31/1996<br>terry : 1/25/1996<br>mark : 9/20/1995<br>carol : 10/18/1994<br>davew : 7/26/1994<br>pfoster : 5/12/1994<br>terry : 4/27/1994<br>warfield : 4/20/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 308000
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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|
|
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
HPRT<br />
|
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HGPRT
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HPRT1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 10406007, 238007004;
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<strong>ICD10CM:</strong> E79.1;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: Xq26.2-q26.3
|
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : X:134,460,165-134,500,668 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
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">
|
|
Xq26.2-q26.3
|
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</span>
|
|
</td>
|
|
|
|
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<td>
|
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<span class="mim-font">
|
|
Hyperuricemia, HRPT-related
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300323
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
|
|
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|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lesch-Nyhan syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300322
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
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|
|
</tbody>
|
|
</table>
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|
</div>
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|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p>HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 encodes hypoxanthine phosphoribosyltransferase (EC 2.4.2.8), which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (summary by Keebaugh et al., 2007). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Jolly et al. (1982) isolated a genomic clone partially encoding human HPRT. Jolly et al. (1983) cloned a full-length 1.6 kb cDNA of a human mRNA coding for HPRT into an SV40-based expression vector and determined its full nucleotide sequence. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<p>Patel et al. (1986) reported that the HPRT gene is about 44 kb long and contains 9 exons; see also Kim et al. (1986) and Melton et al. (1984). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>X-linkage was first suggested by Hoefnagel et al. (1965) and was supported by a rapidly accumulated series of families with deficiency of HPRT. Studies using human-mouse somatic cell hybrids indicated, by reasoning similar to that used for locating the thymidine kinase locus to chromosome 17 (188300), that the HPRT locus is on the X chromosome (Nabholz et al., 1969). </p><p>Studying X-autosome translocations in somatic cell hybrids, Pai et al. (1980) showed that a breakpoint at the junction of Xq27-q28 separates HPRT from G6PD (305900). G6PD is distally situated at Xq28. They localized HPRT to the segment between Xq26 and Xq27. </p><p>Gross (2017) mapped the HPRT1 gene to chromosome Xq26.2 based on an alignment of the HPRT1 sequence (GenBank AY780550) with the genomic sequence (GRCh38).</p><p>Three HPRT pseudogenes, located on chromosomes 3, 5 and 11, have been identified (Stout and Caskey, 1984). Dobrovic et al. (1987) identified a RFLP for the HPRT pseudogene on chromosome 3 (HPRTP1). </p><p>For more detailed information on HPRT1 mapping studies, see HISTORY.</p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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<p>To define genomic elements required for HPRT1 expression in HAP1 human myelogenous leukemia cells, Gasperini et al. (2017) induced large CRISPR/Cas9-based deletions in a 206-kb region surrounding the HPRT1 gene. All 9 exons were required for HPRT1 expression and function, as measured by sensitivity to the purine analog 6-thioguanine. No distal 5-prime regulatory element was detected, and only a narrow window of noncoding sequence immediately upstream of the transcriptional start site and 5-prime UTR was required for HPRT1 expression. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<p>Gibbs and Caskey (1987) used the ribonuclease A cleavage procedure, with a polyuridylic acid-paper affinity chromatography step, to identify the mutation lesions in the HPRT mRNA of patients with Lesch-Nyhan syndrome (LNS; 300322). Of 14 patients chosen because no HPRT Southern or Northern blotting pattern changes had been found, 5 were shown to have a distinctive ribonuclease A cleavage pattern in messenger RNA. This method makes it possible to assay for point mutation. The method had been used to characterize beta-globin mutations in genomic DNA (Myers et al., 1985) and KRAS variants in RNA from tumor cell lines. The ribonuclease A cleavage assays are based on the fact that some single-base mismatch sites in RNA hybrids with RNA or DNA will be cleaved by RNase A. Cleavage occurs because of the single-stranded status of a region within the hybrid. Since Southern and Northern blots show rearrangements in about 15% of cases, combination of these methods with the ribonuclease A cleavage method permits identification of abnormality in about 50% of cases. Simpson et al. (1988) described a method of PCR (polymerase chain reaction) for cloning and sequencing specific human HPRT cDNAs for mutation analysis. Yang et al. (1984) found that the mutations in 7 Lesch-Nyhan patients were different. They demonstrated how it is possible to trace the origin of new mutations by molecular genetic methods. Gibbs et al. (1989) used automated direct DNA sequence analysis of amplified HPRT cDNA to detect and characterize nucleotide alterations in 15 independent mutations causing HPRT deficiency. Davidson et al. (1989) used the PCR method to identify the mutations in HPRT mRNA from B-lymphoblasts derived from 10 deficient individuals. Six contained single point mutations, 3 contained deletions, and 1 contained a single nucleotide insertion. Several of these mutations mapped near previously identified HPRT variants and are located in evolutionarily conserved regions of the molecule. Edwards et al. (1990) reported the complete sequence of 57 kb of DNA at the HPRT locus. Ogasawara et al. (1989) studied a 9-year-old girl with typical biochemical and behavioral characteristics of the Lesch-Nyhan syndrome. Cytogenetic and carrier studies showed structurally normal chromosomes in the patient and her parents and demonstrated that the mutation arose through a de novo gametic event. DNA studies showed a microdeletion that occurred in a maternal gamete and involved the entire HPRT gene. However, in addition to this, by study of somatic cell hybrids generated to separate maternal and paternal X chromosomes, Ogasawara et al. (1989) showed that there was a nonrandom inactivation of the cytogenetically normal paternal X chromosome. Specifically, 2 other X-linked enzymes, phosphoglycerate kinase and G6PD, were expressed only in somatic cell hybrid cells that contained the maternal X chromosome. Furthermore, comparison of methylation patterns within a region of the HPRT gene known to be important in gene regulation showed differences between the DNA of the father and that of the patient, in keeping with an active HPRT locus in the father and an inactive HPRT locus in the patient. </p><p>In Southern blot patterns, Sinnett et al. (1988) found no evidence of major structural alterations in the HPRT gene in 3 French Canadian families with LNS. Northern analysis using HPRT cDNA as a probe showed no hybridizing RNA in an affected member of 1 family, whereas normal-sized mRNA was expressed at a very low level in the second family and at a level comparable to the normal in the third. These data and other information presented here indicate the heterogeneity of LNS resulting from point mutations or small DNA deletions or rearrangements, which may affect transcription, stability, or integrity of the HPRT message. Seegmiller (1989) gave a useful overview of the substantial contributions of the Lesch-Nyhan syndrome to the understanding of purine metabolism, thus illustrating the garrodian principle of the usefulness of rare genetic diseases to the understanding of biology and medicine. </p><p>In reporting lesions in the HPRT gene, the initiation methionine codon has been counted as position 1 in some reports (e.g., Wilson et al., 1983; Fujimori et al., 1988), whereas the codon for the first amino acid of the mature protein has been used in others (e.g., Gibbs et al., 1989). In the listing that follows, the initiation methionine codon is counted as number 1 throughout. </p><p>See Rossiter et al. (1991) for a tabulation of HPRT mutations causing Lesch-Nyhan syndrome. A notable feature of the list is the great variety of mutations that can cause the Lesch-Nyhan syndrome and the rarity of 'repeat' mutations: HPRT London (308000.0010), a cause of precocious gout, occurred in 2 unrelated persons; only the his203-to-asp mutation (308000.0019) had been found in 2 unrelated LNS patients.</p><p>Sculley et al. (1992) reviewed the mutations involving the coding region of HPRT. These included 32 that predictably cause changes in the size of the translated protein and 38 that represent mutations causing a single amino acid substitution. They commented that in the absence of precise information on the 3-dimensional structure of the HPRT protein, it remains difficult to determine any consistent correlation between structure and function of the enzyme. Boyd et al. (1993) used heteroduplex detection by hydrolink gel electrophoresis in screening for mutations in families with Lesch-Nyhan syndrome. </p><p>In their Figure 3, Renwick et al. (1995) provided a summary map of the HPRT mutations identified as causing disease in humans. Insertions and deletions, as well as point mutations, were indicated. They stated that 17 microdeletions, most of them less than 20 bp, had been identified. Gross alterations involving the HPRT gene found by Southern analysis using cDNA probes included 3 total gene deletions, 3 partial gene deletions involving the 3-prime portion, 2 duplications, and a possible insertion. These gross DNA alterations accounted for only 12% of reported Lesch-Nyhan cases. They reported another case, that of a 5-kb deletion that had its end points in the first and third introns and was responsible for Lesch-Nyhan syndrome. </p><p>Colgin et al. (2002) studied the HPRT gene to investigate the spectrum and frequency of somatic mutations in kidney tubular epithelial cells. Studies were done in primary tubular epithelial cell clones grown directly from human kidney tissue. The authors found that mutant tubular epithelial cells, recovered by growth in the purine analog 6-thioguanine (TG), were surprisingly frequent. Mutant frequency increased approximately 1% per year of donor age and was 10-fold or more higher in kidney than in peripheral blood T lymphocytes of normal, age-matched donors. Most TG-resistant kidney tubular epithelial cells from single donors contained different HPRT mutations. A high proportion of the mutations represented unreported HPRT base substitutions, 1-bp deletions, and multiple mutations. This spectrum of somatic mutations differed from HPRT mutations found in human peripheral blood T lymphocytes and from germline HPRT mutations identified in Lesch-Nyhan syndrome or hyperuricemia patients. The results indicated that DNA damage and mutagenesis may have unusual features in kidney tubular epithelium and that somatic mutation may play a more important role in human kidney disease than previously appreciated. </p><p>Ceballos-Picot et al. (2009) demonstrated that HPRT deficiency influences early developmental processes controlling the dopaminergic phenotype. Microarray methods and quantitative PCR were applied to 10 different HPRT-deficient sublines derived from the hybrid MN9D cell line, derived from somatic fusion of embryonic mouse primary midbrain dopaminergic neurons and a mouse neuroblastoma cell line. There were consistent increases in mRNAs for engrailed-1 (EN1; 131290) and -2 (EN2; 131310), transcription factors known to play a role in the specification and survival of dopamine neurons. The increases in mRNAs were accompanied by increases in engrailed proteins, and restoration of HPRT reverted engrailed expression towards normal levels. The functional relevance of the abnormal developmental molecular signature of the HPRT-deficient MN9D cells was evident in impoverished neurite outgrowth when the cells were forced to differentiate chemically. These abnormalities were also seen in HPRT-deficient sublines from the SK-N-BE(2)-M17 human neuroblastoma line, and overexpression of engrailed was documented in primary fibroblasts from patients with Lesch-Nyhan disease. Ceballos-Picot et al. (2009) concluded that HPRT deficiency may affect dopaminergic neurons by influencing early developmental mechanisms. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a molecular analysis of 85 French and Italian patients with HPRT mutations, including 54 with LNS, 19 with the LNS neurologic variant, and 12 with HRH, Madeo et al. (2019) found that complex rearrangements, nonsense mutations, wide deletions, and splicing mutations were almost always associated with neurologic and behavioral manifestations, corresponding to an LNS or, less frequently, LNS with neurologic phenotype, while missense mutations were found in all 3 subgroups, but more frequently in the attenuated variants. However, intrafamilial phenotypic variability was also found. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using comparative mapping and sequencing, in conjunction with database analysis, Keebaugh et al. (2007) showed that the HPRT gene family expanded as a result of ancient vertebrate-specific duplications and is composed of 3 groups: HPRT1, PRTFDC1 (610751) and Hprt1l, which is found only in fish. These 3 gene groups have distinct rates of evolution and potentially divergent function. Keebaugh et al. (2007) noted that HPRT1 is an X-linked gene in placental mammals and marsupials, whereas in other vertebrates it is located on an autosome. </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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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hooper et al. (1987) and Kuehn et al. (1987) independently reported success in generating HPRT-deficient male mice by injecting into normal embryos pluripotential stem cells which had first been selected as HPRT-negative in tissue culture. They found that the germline was colonized by these cultured cells with resulting germline chimerism and production of female offspring heterozygous for HPRT deficiency. In this way it was possible to derive strains of mutant mice having the same biochemical defect as Lesch-Nyhan patients. The availability of such mice should permit study of the molecular basis of the phenotype in this disorder. HPRT is an ideal gene for these studies because it is expressed by all cells and only 1 copy needs to be eliminated in XY cell lines to produce enzyme deficiency; because the gene presents a reasonable target size (34 kb) and cloned probes enable the sites of mutation to be mapped; and particularly because a powerful technique is available for selecting HPRT-negative cells. Since these cells, unlike HPRT-positive cells, are unable to salvage free purine bases, they are not killed when toxic purine analogs such as 6-thioguanine and 8-azoguanine are added to the culture medium. The method used by these workers depended on embryonic stem (ES) cells that can still enter the germline after genetic manipulation in culture. Doetschman et al. (1987) used homologous recombination between the HPRT gene and exogenous DNA for targeted correction of the HPRT locus in the ES cell line that had previously been isolated and used to produce an HPRT-deficient mouse. Koller et al. (1989) injected the 'corrected' embryonic stem cells into blastocysts which were introduced into pseudopregnant female mice to complete their development. Nine chimeric pups (6 males, 3 females) were obtained. Two of the males transmitted the embryonic stem cell genome containing the alteration in the HPRT gene to their offspring at high frequencies. Using a mouse model of HPRT deficiency, Monk et al. (1987, 1990) showed that sexing and diagnosis of the deficiency could be performed in preimplantation embryos by biochemical microassay. The diagnoses were sufficiently rapid that freezing of the embryos before transfer was not necessary. Sexing was possible because both X chromosomes are active in female morulae and the blastomeres sampled from female preimplantation embryos have twice as much X-encoded HPRT activity as do blastomeres from male embryos. Wu and Melton (1993) examined the question of why HPRT-deficient mice generated using the embryonic stem cell system show no spontaneous behavioral abnormalities characteristic of Lesch-Nyhan syndrome. They suspected that mice are more tolerant of HPRT deficiency because they are more reliant on adenine phosphoribosyltransferase (APRT; 102600) than HPRT for their purine salvage. Pursuing this idea, they administered an APRT inhibitor to HPRT-deficient mice and induced persistent self-injurious behavior. </p><p>Engle et al. (1996) bred HPRT/APRT doubly deficient mice in an attempt to induce behavioral manifestations characteristic of Lesch-Nyhan syndrome in humans. They noted that HPRT-deficient mice showed no behavioral abnormalities. The APRT/HPRT-deficient mice who were void of any purine salvage pathways showed no novel behavioral phenotype. </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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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rosenbloom et al. (1967) and Migeon et al. (1968) demonstrated 2 populations of fibroblasts, as regards the relevant enzyme activity, in heterozygous females, thus providing support both for X-linkage and for the Lyon hypothesis. Silvers et al. (1972) demonstrated mosaicism by study of hair roots in women heterozygous for Lesch-Nyhan syndrome (LNS; 300322), which is due to complete deficiency of HPRT. Francke et al. (1976) studied the frequency of new mutations among affected males. Lesch-Nyhan syndrome is particularly favorable for this purpose because no affected males reproduce, the diagnosis is unequivocal, cases come readily to attention, and heterozygosity can be demonstrated in females by the existence of 2 populations of cultured fibroblasts. There were few new mutations, contrary to the expected one-third. On the other hand, about one-half of heterozygous females were new mutations, as is predicted by theory. The finding may indicate a higher frequency of mutation in males than in females. Another possibility is the role of somatic and half-chromatid mutations (Gartler and Francke, 1975). New mutation cases of heterozygous females had elevated parental age. Vogel (1977) reviewed the evidence concerning hemophilia and Lesch-Nyhan syndrome leading to the conclusion that the mutation rate is higher in males than in females. Evidence that the mutation rate for Lesch-Nyhan disease may be higher in males than in females was reviewed by Francke et al. (1976) and criticized by Morton and Lalouel (1977). Francke et al. (1977) answered the criticism. Strauss et al. (1980) showed that females heterozygous for the Lesch-Nyhan mutation have 2 populations of peripheral blood lymphocytes with regard to sensitivity to 6-thioguanine inhibition of tritiated thymidine incorporation following phytohemagglutinin stimulation. </p><p>Henderson et al. (1969) concluded that the locus for HPRT is closely linked to the Xg (314700) locus; Greene et al. (1970) concluded, however, that the HPRT and Xg loci 'are sufficient distance from each other on the human X chromosome that linkage cannot be detected.' Nyhan et al. (1970) observed a sibship in which both HPRT deficiency and G6PD deficiency (300908) were segregating and found 2 recombinants out of 4. Nyhan et al. (1970) also found that heterozygotes had normal levels of HPRT in red cells. They interpreted this as indicating a selective advantage of G6PD-normal over G6PD-deficient cells. (In adrenoleukodystrophy (300100), it is the mutant cell that enjoys the selective advantage.) </p><p>In mouse-man hybrid cells, when the mouse parent cell is of the type called RAG which is resistant to 8-azaguanine because of a deficiency of HPRT, the human form of HPRT is required in order for the hybrid cells to survive in HAT selective medium. In over 100 clones of human-RAG hybrid cells maintained in HAT, Ruddle (1971) saw without exception persistence of human G6PD activity. This strongly indicated either close linkage of the HPRT and G6PD loci or a very low incidence of X-chromosome breakage and rearrangement. Emmerson et al. (1974) excluded close linkage of the HPRT and the deutan colorblindness (303800) loci. That the HPRT locus is X-linked in the mouse also was indicated by Epstein (1972) finding that the activity of the enzyme at the 2-cell stage in the XO product is half that in the XX. No difference is observed in late morula and blastocyst stage. G6PD and HPRT are linked in the Chinese hamster (Rosenstraus and Chasin, 1975) and presumably are on the X chromosome as in man. </p><p>By study of cell hybrids, Shows et al. (1976) found that HPRT and G6PD are closely linked in the muntjac deer. From study of radiation-induced segregants (irradiated human cells 'rescued' by fusion with hamster cells), Goss and Harris (1977) showed that the order of the 4 loci 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. Alpha-GAL, HPRT, PGK (172270), and G6PD were found to be X-linked in 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. According to cell hybridization studies, HPRT, G6PD and PGK, are also X-linked in the pig (Gellin et al., 1979) and in sheep (Saidi et al., 1979). 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. It is remarkable that although the HPRT and G6PD loci appear from physical mapping to be closely situated, family studies indicate considerable recombination (Francke et al., 1974). Fenwick (1980) assigned the HPRT, G6PD, and PGK loci to the short arm of the Chinese hamster X chromosome. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>60 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 HYPERURICEMIA, HPRT-RELATED</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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HPRT ANN ARBOR
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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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HPRT, ILE132MET
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<br />
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SNP: rs137852477,
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ClinVar: RCV000010712, RCV000010713
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</span>
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<div>
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<span class="mim-text-font">
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<p>Fujimori et al. (1988) showed that the change in HPRT(Ann Arbor) is a single nucleotide change (T-to-G) at nucleotide position 396. This transversion predicts an amino acid substitution from isoleucine (ATT) to methionine (ATG) in codon 132, which is located within the putative PRPP-binding site of HPRT. HPRT(Ann Arbor) was identified in 2 brothers with hyperuricemia and nephrolithiasis (HRH; 300323). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPERURICEMIA, HPRT-RELATED</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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HPRT ARLINGTON
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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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HPRT, ASP80VAL
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<br />
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SNP: rs137852478,
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ClinVar: RCV000010714, RCV000010715, RCV001851783
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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 male with gout and partial HPRT deficiency (HRH; 300323), Davidson et al. (1989) found an A-to-T change at nucleotide 239, changing aspartic acid-80 to valine. </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 HYPERURICEMIA, HPRT-RELATED</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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HPRT ASHVILLE
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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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HPRT, ASP201GLY
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<br />
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SNP: rs137852479,
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ClinVar: RCV000010716, RCV000010717
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</span>
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</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Davidson et al. (1989) identified an A-to-G transition at nucleotide 602, leading to a substitution of glycine for aspartic acid as amino acid 201 in a variant referred to as HPRT(Ashville). The man with this mutant had severe precocious gout and uric acid nephrolithiasis, due to overproduction of uric acid, and partial HPRT deficiency (HRH; 300323). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT CHICAGO
|
|
</span>
|
|
</div>
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|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 1-BP INS, 56T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2077615673,
|
|
|
|
|
|
|
|
ClinVar: RCV000010718, RCV001255648
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Lesch-Nyhan syndrome (LNS; 300322), Davidson et al. (1989) demonstrated insertion of 1 nucleotide, a T, as either no. 56, 57, or 58. This led to a change of CCTTGA to CCTTTGA and termination of translation at asp20. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT CONNERSVILLE
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX8DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010720, RCV001255649
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LNS (300322), Davidson et al. (1989) found deletion of nucleotides 532-609 (all of exon 8) causing loss of phe178 to asn203. A change in reading frames results in a stop codon 15 nucleotides downstream from the junction between exons 7 and 9. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT DETROIT
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, LEU41PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852480,
|
|
|
|
|
|
|
|
ClinVar: RCV000010722, RCV000010723
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LNS (300322), Davidson et al. (1989) found that a change of nucleotide 122 from T to C caused substitution of proline for leu41. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT EVANSVILLE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 24AA+
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906428,
|
|
|
|
|
|
|
|
ClinVar: RCV000010724, RCV000010725
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LNS (300322), Davidson et al. (1989) found an HPRT protein abnormally long by 24 amino acids, resulting from change in nucleotides 643 to 663 which code for the last 4 amino acids and the stop codon. This mutation was also reported by Gibbs et al. (1990) in cell line RJK894. (RJK = Robert J. Kleberg, a major benefactor of the Institute of Medical Genetics at Baylor College of Medicine.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT FLINT
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, PHE74LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852481,
|
|
|
|
|
|
|
|
ClinVar: RCV000010726, RCV000010727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LNS (300322), Davidson et al. (1988) found a C-to-A change that converted phenylalanine-74 to leucine. (The cell line is also known as RJK896 (Gibbs et al., 1990).) This mutation is the same as that in HPRT Perth, which was identified as an independent mutation by Sculley et al. (1991) in a patient with Lesch-Nyhan syndrome in Australia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT KINSTON
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ASP194ASN AND ASP193ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606863,
|
|
|
|
|
|
|
|
ClinVar: RCV000010728
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>HPRT(Kinston) has a G-to-A change resulting in substitution of asparagine for aspartic acid as amino acid 194 (Wilson and Kelley, 1983). Gibbs et al. (1990) described an asp193-to-asn substitution in cell line RJK2188 from a patient with LNS (300322). This is the same as HPRT Kinston; Gibbs et al. (1990) used the numbering system not counting the initial methionine, whereas Wilson and Kelley (1983) did use it. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT LONDON
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, SER110LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852482,
|
|
|
|
|
|
|
|
ClinVar: RCV000010730, RCV000010731, RCV003764546
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wilson et al. (1983) found substitution of leucine for serine at amino acid 109 in HPRT(London). Davidson et al. (1988) showed that HPRT(London), observed in 2 apparently unrelated individuals and resulting in partial HPRT deficiency and gout (HRH; 300323), is the result of a mutation that causes substitution of leucine for serine at amino acid 110. The DNA change is a C-to-T transition at bp 329. This transition creates an HpaI site in exon 4 of the HPRT gene. This is explicable by change from UCA to UUA in codon 109. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MICHIGAN
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 3-BP DEL, VAL179DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010732, RCV001255646
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a case of LNS (300322), Davidson et al. (1989) showed that the mutation is a deletion of nucleotides 535-537 resulting in loss of valine 179. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MIDLAND
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, VAL130ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852483,
|
|
|
|
|
|
|
|
ClinVar: RCV000010734, RCV000010735
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Lesch-Nyhan syndrome (300322), Davidson et al. (1988) and Gibbs et al. (1989) found a T-to-A change resulting in substitution of aspartic acid for valine-130. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MILWAUKEE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ALA161SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852484,
|
|
|
|
|
|
|
|
ClinVar: RCV000010736, RCV000010737, RCV003764547
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial HPRT deficiency and gout (HRH; 300323), Davidson et al. (1989) found a change of nucleotide 481 from G to T resulting in substitution of alanine-161 by serine. (The cell line is RJK949 of Gibbs et al. (1989).) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MUNICH
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, SER104ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852485,
|
|
|
|
|
|
|
|
ClinVar: RCV000010738, RCV000010739
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By a combination of denaturing gradient gel electrophoresis and in vitro DNA amplification, Cariello et al. (1988) localized a DNA mutation to a given 100-bp region of the human genome and rapidly sequenced the DNA without cloning. The mutation studied by Cariello et al. (1988), HPRT(Munich), came from a patient with gout (HRH; 300323); it was found to represent a single basepair substitution, a C-to-A transversion at basepair 312. (This was reported as 397 by Cariello et al. (1988) because of a different system of numbering nucleotides.) Wilson and Kelley (1984) defined it as a ser104-to-arg bp substitution by studies of protein sequence, and Palella (1990) later determined the nucleotide change as C-to-T. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT NEW BRITON
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, PHE199VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852486,
|
|
|
|
|
|
|
|
ClinVar: RCV000010740, RCV000010741
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a case of LNS (300322), Davidson et al. (1989) showed that a T-to-G change in nucleotide 595 produced a substitution of phe199 by valine. (This is the same as cell line RJK950, studied by Gibbs et al. (1989).) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT NEW HAVEN
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLY70GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852487,
|
|
|
|
|
|
|
|
ClinVar: RCV000010742, RCV000010743, RCV001851784
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a case of LNS (300322), Davidson et al. (1989) showed that a G-to-A change in nucleotide 209 resulted in substitution of gly70 by glutamic acid. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT YALE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLY71ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852488,
|
|
|
|
|
|
|
|
ClinVar: RCV000010744, RCV000010745, RCV000790697
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the mutant HPRT(Yale), discovered in a subject with LNS (300322), Wilson et al. (1986) found normal mRNA in protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE. By cloning and sequencing HPRT(Yale) cDNA, Fujimori et al. (1989) found a single nucleotide substitution: G-to-C at nucleotide position 211. This transversion predicted substitution of arginine for glycine at amino acid position 71, explaining the cathodal migration of HPRT(Yale). Inclusion of the bulky arginine side chain in place of glycine probably disrupts protein folding. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLN108TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852489,
|
|
|
|
|
|
gnomAD: rs137852489,
|
|
|
|
|
|
ClinVar: RCV000010746, RCV000631414, RCV004700213
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gibbs et al. (1990) described this mutation in cell line RJK1930 from a patient with LNS (300322). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, HIS203ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852490,
|
|
|
|
|
|
|
|
ClinVar: RCV000010747, RCV001250108
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gibbs et al. (1989) described this mutation in cell line RJK1874 from a patient with LNS (300322). Gibbs et al. (1990) found the same mutation in an unrelated patient with LNS (RJK2019). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ARG44LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852491,
|
|
|
|
|
|
gnomAD: rs137852491,
|
|
|
|
|
|
ClinVar: RCV000010748
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gibbs et al. (1990) described this mutation in cell line RJK2163 from a patient with LNS (300322). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ASP176TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852492,
|
|
|
|
|
|
|
|
ClinVar: RCV000010749
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Gibbs et al. (1990) described this mutation in cell line RJK2185 from a patient with LNS (300322). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0022 MOVED TO 308000.0009</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0023 MOVED TO 308000.0007</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 2-BP DEL, GT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010750
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK1747 from a patient with LNS (300322), Gibbs et al. (1990) found deletion of 2 nucleotides (GT) causing a frameshift. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 1-BP DEL, TTA-TA
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010751
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK1939 from a patient with LNS (300322), Gibbs et al. (1990) found deletion of 1 nucleotide (TTA-to-TA) resulting in a frameshift. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 1-BP DEL, TTG-TG
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010752
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK2019 from a patient with LNS (300322), Gibbs et al. (1990) found deletion of 1 nucleotide (TTG-to-TG) resulting in a frameshift. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 40-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010753
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK2108 from a patient with LNS (300322), Gibbs et al. (1990) found deletion of 40 nucleotides resulting in a frameshift. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, IVS8DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1569360139,
|
|
|
|
|
|
|
|
ClinVar: RCV000010754, RCV001571220, RCV004545723
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK888 from a patient with LNS (300322), Gibbs et al. (1990) found a G-to-A change of the fifth nucleotide in intron 8 causing a defect in splicing because of the change in the donor site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, IVS8AS, ATAG-TTTG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs672601245,
|
|
|
|
|
|
|
|
ClinVar: RCV000010755
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK906 from a patient with LNS (300322), Gibbs et al. (1990) found an ATAG-to-TTTG change in the last 4 nucleotides of intron 8. Interference with processing resulted from mutation in the acceptor splice site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, IVS7DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1569360089,
|
|
|
|
|
|
|
|
ClinVar: RCV000010756
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK1934 from a patient with LNS (300322), Gibbs et al. (1990) found a GTAAGT-to-GTAAAT change at the beginning of intron 7. Interference with processing resulted from mutation in the donor splice site. See 308000.0029 for the corresponding mutation in intron 8. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, IVS1AS, A-T, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1569354918,
|
|
|
|
|
|
|
|
ClinVar: RCV000010757, RCV004549355
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line RJK1760 from a patient (CB) with LNS (300322), Gibbs et al. (1990) found an AG-to-TG change in the last 2 nucleotides of intron 1. Interference with processing resulted from mutation in the acceptor splice site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, PRO176LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852493,
|
|
|
|
|
|
|
|
ClinVar: RCV000010758
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Davidson et al. (1989) referred to their observations concerning this mutation. The substitution predicts loss in beta-turn structure and change in hydrophilicity which may be essential to normal enzymatic function since this and the Evansville and Milwaukee mutations have greatly diminished or undetectable enzyme activity. (Davidson (1990) identified the mutation as pro176leu rather than pro174leu as published.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT TORONTO
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ARG51GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852494,
|
|
|
|
|
|
|
|
ClinVar: RCV000010759, RCV000010760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with gout (HRH; 300323), Wilson et al. (1983) found substitution of glycine (GGA) for arginine-51 (CGA) in the HPRT gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT FUJIMI
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ARG51TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852494,
|
|
|
|
|
|
|
|
ClinVar: RCV000010761, RCV000010762, RCV000153366, RCV001224361, RCV001252944
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with Lesch-Nyhan syndrome (300322), Fujimori et al. (1990) identified a change of codon 51 from CGA(arg) to TGA(stop). The same codon, although a different nucleotide, is involved in HPRT(Toronto). HPRT(Toronto) is associated with incomplete deficiency leading to gout and not the Lesch-Nyhan syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MONTREAL
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, MET56THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852495,
|
|
|
|
|
|
|
|
ClinVar: RCV000010763, RCV000010764, RCV004545724
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Skopek et al. (1990) used DNA from peripheral blood T-lymphocytes to demonstrate a single base substitution (T-to-C transition) at position 170 (exon 3). The predicted amino acid change was a substitution of threonine for methionine-56. The probands were 2 male children in a French Canadian family. Both had developmental delay, mainly motor in nature, and were confined to a wheelchair by age 5. Neither had aggressive behavior or self-mutilation (see 300322). HPRT activities were 18% and 10% of parental values for the older and younger boy, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, MET143LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852496,
|
|
|
|
|
|
|
|
ClinVar: RCV000010765
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient GB (RJK1210) with LNS (300322), Gibbs et al. (1989) found a TGC-to-AGC change at nucleotide 428 in exon 6, causing a met143-to-lys substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ARG170TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852497,
|
|
|
|
|
|
gnomAD: rs137852497,
|
|
|
|
|
|
ClinVar: RCV000010766, RCV003764548
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient JC (RJK 974) with LNS (300322), Gibbs et al. (1989) found a CGA-to-TGA change in codon 170. In a family containing at least 3 males with Lesch-Nyhan syndrome, Marcus et al. (1992) identified a nonsense mutation at the CpG site in the codon for arginine-169, by genomic PCR and DNA sequencing in cultured fibroblasts. The recurrence of mutation at this site in several unrelated Lesch-Nyhan families suggested deamination of 5-methylcytosine as a mechanism for mutagenesis. The level of HPRT mRNA in the fibroblasts of the patients was similar to that in healthy controls, whereas HPRT enzyme activity was not detectable. A noncarrier phenotype was found in hair follicle analyses and fibroblast selection studies in 8-azaguanine and 6-thioguanine medium in 3 of the obligatory female heterozygotes, whereas X-inactivation mosaicism was demonstrated in 1 heterozygote. Marcus et al. (1992) raised the possibility that the HPRT mutation was associated with an undefined X-linked lethal mutation leading to the nonrandom X-inactivation. The observation is of practical relevance for carrier detection in other Lesch-Nyhan families. The mutation called ARG169TER by Marcus et al. (1992) is the same as that numbered arg170-to-ter by Gibbs et al. (1989). Tarle et al. (1991) found the same mutation. Marcus et al. (1992) quoted Gibbs as having found 3 additional unrelated patients with the same mutation which may account for about 15% of the base substitution mutations identified so far. </p><p>De Gregorio et al. (2000) reported an Argentinian family in which a 22-year-old male and his 8-year-old sister had clinically identical classic features of LNS. The mother and an older daughter were carriers and had normal phenotypes. The affected sister was karyotypically normal and heterozygous for the R169X mutation. She inherited the HPRT mutation from her mother, but she had nonrandom inactivation of the paternal X chromosome carrying the normal HPRT gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 13-BP DEL, 5-PRIME UTR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2124280474,
|
|
|
|
|
|
|
|
ClinVar: RCV001377126, RCV002280824
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient RT (RJK 951) with gout (HRH; 300323), Gibbs et al. (1989) found deletion of 13 nucleotides of which the first was 12 nucleotides 5-prime to the initiation codon in the HPRT gene. With the loss of the first nucleotide of the initiation codon, initiation in-frame may have occurred downstream. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX2DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010768
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient MG (RJK1780) with LNS (300322), Gibbs et al. (1990) found deletion of exon 2. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX4-9DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010769
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient EB (RJK849) with LNS (300322), Yang et al. (1984) found deletion of exons 4 to 9, inclusive. No mRNA was found. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX6-9DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010770
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient EB (RJK984) with LNS (300322), Stout and Caskey (1985) and Gibbs et al. (1990) demonstrated deletion of exons 6 to 9, inclusive. No mRNA was demonstrable. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX9DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010771
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using restriction fragment and Southern blot analysis, Yang et al. (1984) predicted a partial HPRT gene deletion including exons 7, 8, and 9 in cell line GM3467 from a patient with LNS (300322). By multiplex amplification of the HPRT locus, Gibbs et al. (1990) demonstrated deletion of exon 9 and the presence of exons 7 and 8 in this patient. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0044 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010772
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient BM (RJK853) with LNS (300322), Yang et al. (1984) and Gibbs et al. (1990) found deletion of the entire HPRT gene. Deletion of the entire gene was found also in a female patient with LNS (Ogasawara et al., 1989). No mRNA was present in either case. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0045 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT,1-BP INS, 207G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200980,
|
|
|
|
|
|
|
|
ClinVar: RCV000153367, RCV001198061, RCV001229151
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patient CW (RJK866) with LNS (300322), Gibbs et al. (1989) found insertion of a single guanine nucleotide at about nucleotide 207 of the cDNA. The resulting frameshift produced a protein with 84 amino acids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0046 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, INV/DEL, EX6-9
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010774
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In GM2227 from a patient with LNS (300322), Edwards and Caskey (1990) found a complex rearrangement involving inversion and deletion of exons 6 to 9. No mRNA was found.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0047 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX2-3DUP, IVS1DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010775
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In GM1662 and GM6804 from patients with LNS (300322), Yang et al.(1984, 1988) found a complex rearrangement involving duplication of exons 2 and 3 and deletion of intron 1. Increased size of mRNA was observed. Monnat et al. (1992) demonstrated that the duplication in GM6804 was generated by the nonhomologous insertion of duplicated HPRT DNA into HPRT intron 1. They found that the duplication was genetically unstable and had a reversion rate approximately 100-fold higher than the rate of duplication formation. Exons 2 and 3, together with 13.7 kb of surrounding HPRT sequence, were duplicated. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0048 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT BRISBANE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, THR168ILE
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs137852498,
|
|
|
|
|
|
|
|
ClinVar: RCV000010776
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with urate overproduction and gout (HRH; 300323), Gordon et al. (1990) found a C-to-T transition which predicted an amino acid substitution of isoleucine for threonine at amino acid 168 of the HPRT protein. The nucleotide substitution created a BamHI site, confirming a RFLP previously observed in this patient. In red cell lysates, the patient had approximately 10% of normal HPRT activity and 26% of immunoidentical HPRT protein. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0049 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT URANGAN
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|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLY16SER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852499,
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|
|
|
|
|
|
|
ClinVar: RCV000010777, RCV000010778
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial HPRT deficiency (enzyme activity less than 0.1%; 300323), Sculley et al. (1991) identified a G-to-A mutation at nucleotide 145 resulting in a substitution of serine for glycine-16. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0050 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT TOOWONG
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLY58ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852500,
|
|
|
|
|
|
|
|
ClinVar: RCV000010779, RCV000010780
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial HPRT deficiency (enzyme activity = 10%; 300323), Sculley et al. (1991) identified a G-to-A mutation at nucleotide 271 resulting in a substitution of arginine for glycine-58. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0051 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT SWAN
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, LEU78VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852501,
|
|
|
|
|
|
|
|
ClinVar: RCV000010781, RCV000010782
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial HPRT deficiency (enzyme activity = 10%; 300323), Sculley et al. (1991) found a C-to-G mutation at nucleotide 331 resulting in substitution of valine for leucine-78. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0052 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT CHERMSIDE
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, EX6DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2077673385,
|
|
|
|
|
|
|
|
ClinVar: RCV000010783, RCV001255650, RCV003764549
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Lesch-Nyhan syndrome (300322), Gordon et al. (1991) demonstrated a G-to-A transition in the first nucleotide of intron 6 resulting in deletion of the 83 bp comprising exon 6. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0053 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT COORPAROO
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 1-BP INS, 14823T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2077615719,
|
|
|
|
|
|
|
|
ClinVar: RCV000010785, RCV001255651
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Lesch-Nyhan syndrome (300322), Gordon et al. (1991) identified an insertion of a T nucleotide at either nucleotide 14823 or 14824. This placed a stop codon in frame, resulting in premature termination of translation of the HPRT mRNA. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0054 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT EDINBURGH
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ASP52GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852502,
|
|
|
|
|
|
|
|
ClinVar: RCV000010787, RCV000010788, RCV002512965
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Snyder et al. (1989) described 3 brothers who developed acute gouty arthritis (HRH; 300323) between ages 16 and 26 years. One brother had an episode of renal failure at the age of 5 and one suffered an attack of renal colic at age 12. None had evidence of neurologic disturbance but the youngest had epileptic episodes. Lymphoblasts established from these patients had detectable, but less than 2%, HPRT activity. Lightfoot et al. (1992) demonstrated an A-to-G transition at base 155 in exon 3 predicting a change in aspartic acid 52 to glycine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0055 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT TOKYO
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, GLY140ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852503,
|
|
|
|
|
|
|
|
ClinVar: RCV000010789, RCV000010790, RCV001857327
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with Lesch-Nyhan syndrome (300322), Fujimori et al. (1991, 1992) found a G-to-A transition at nucleotide 419 which predicted a single amino acid substitution of an aspartic acid for a glycine at position 140. The amino acid substitution was located within the putative 5-phosphoribosyl-1-pyrophosphate (PRPP) binding region.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0056 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT MOOSE JAW
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ASP194GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852504,
|
|
|
|
|
|
|
|
ClinVar: RCV000010791, RCV000010792
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Snyder et al. (1984) described a family in which 4 males had gout with partial HPRT deficiency (HRH; 300323) and reduced affinity of the enzyme for PPRP. The proband was a slow learner and stutterer, but none of the 4 had major neurologic abnormalities. One had died of renal failure, presumably due to gouty kidney at age 32. Called HPRT-Moose Jaw, the mutation in this Canadian family was due to a C-to-G transversion at nucleotide 582 (relative to initiation of translation) resulting in substitution of aspartate-194 by glutamate. Lightfoot et al. (1994) demonstrated that the K(m) of the mutant protein for hypoxanthine was increased 12-fold and the apparent K(m) for PPRP was increased 44-fold. Although the turnover number or k(cat) of the mutant protein was equivalent to that of the wildtype, the catalytic efficiency of the purified mutant protein was only 6% and 3% of that of the wildtype with hypoxanthine and PPRP, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0057 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HPRT PARIS
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, TYR153TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852505,
|
|
|
|
|
|
|
|
ClinVar: RCV000010793, RCV000010794
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Van Bogaert et al. (1992) described a typical case of Lesch-Nyhan syndrome (300322) in a female patient. Aral et al. (1996) demonstrated that the molecular basis of HPRT deficiency in this patient was a previously undescribed nucleotide substitution in exon 6. The gene, designated HPRT Paris, showed a single nucleotide substitution from T to G at base position 558, changing tyrosine-153 (TAT) to a stop codon (TAG). The mother showed a normal HPRT sequence, indicating that the mutation arose through a de novo gametic event. Allele-specific amplification of exon 6 confirmed the single-base substitution and showed that the patient was heterozygous. Investigation of X-chromosomal inactivation by comparison of the methylation patterns of the patient's DNA indicated a nonrandom pattern of X-chromosomal inactivation with preferential inactivation of the maternal allele. Thus, the authors concluded that the lack of HPRT activity in this female patient was the result of a de novo point mutation in the paternal gene combined with selective inactivation of the maternal gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0058 LESCH-NYHAN SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, 2969-BP DEL, NT970
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010795
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Japanese patients with Lesch-Nyhan syndrome (300322), Mizunuma et al. (2001) detected the identical large genomic deletion, which spanned from an Alu sequence in a promoter region to another Alu sequence in intron 1, a length of 2,969 basepairs including exon 1. They concluded that this identical deletion in the HPRT1 gene in 2 patients was derived from recurrent events of genomic recombination, since mitochondrial DNA showed differences in the 2 cases. Mitochondrial DNA was considered a valid gauge, since HPRT1 mutations and mitochondrial DNA cotransmitted from carrier mother to offspring. The same Alu-mediated deletion of HPRT1 had not been reported among somatic mutations at this locus, suggesting that the region of the HPRT1 gene flanked by Alu sequences is a mutation hotspot in the germline but not in somatic cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0059 HYPERURICEMIA, HPRT-RELATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, LEU65PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852506,
|
|
|
|
|
|
|
|
ClinVar: RCV000010796
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old boy with partial HPRT deficiency (HRH; 300323) who presented with recurrent acute renal failure from hyperuricemia and had no phenotypic features of Lesch-Nyhan syndrome, Srivastava et al. (2002) identified a C-to-T transition at nucleotide 193 in exon 3 of the HPRT gene, resulting in a leu65-to-phe substitution. Red blood cell lysates had less than 10% of normal HPRT activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0060 LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
HYPERURICEMIA, HPRT-RELATED, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HPRT, ARG48HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906725,
|
|
|
|
|
|
|
|
ClinVar: RCV000022877, RCV000690811, RCV001092162, RCV001255647, RCV003398561
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 patients from 7 unrelated families with the neurologic variant of Lesch-Nyhan syndrome (see 300322), Sampat et al. (2011) identified a 143G-A transition in the HPRT gene, resulting in an arg48-to-his (R48H) substitution in an alpha-2 helix at the interface between dimerization of the protein. An additional patient with hyperuricemia and impulsive/oppositional behavior, whom the authors classified as having HPRT-related hyperuricemia (HRH; 300323), also carried the mutation. The mutation likely arose independently multiple times, because it occurred at a CpG motif. There was almost no detectable HPRT enzyme activity in patient erythrocytes, but there was some residual activity in patient fibroblasts. Kinetic studies in E. coli showed that the mutant enzyme had normal affinity for hypoxanthine and guanine, but V(max) was decreased by 33% and 37% for those substrates, respectively, compared to wildtype. However, additional studies showed that the mutant protein had poor thermal stability, with only 16% residual activity at 37 degrees C and undetectable activity at 55 degrees C, which may have explained the variable phenotypic consequences in mutation carriers. </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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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Benke et al. (1973); Benke et al. (1973); Bland (1968); Brennand et
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al. (1982); Caskey and Kruh (1979); Chinault and Caskey (1984); Cox
|
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et al. (1970); Dancis et al. (1973); Davidson et al. (1988); Davidson
|
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et al. (1989); Davidson et al. (1991); Demars et al. (1969); Dempsey
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et al. (1983); Emmerson et al. (1972); Fox et al. (1975); Francke and
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Taggart (1979); Fujimori et al. (1992); Fujimori et al. (1991); Gibbs
|
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et al. (1984); Graham et al. (1996); Greene (1972); Gutensohn and
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Jahn (1979); Hashimi and Miller (1976); Holland et al. (1983); Kelley
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|
et al. (1969); Kelley et al. (1967); Kogut et al. (1970); Lesch and
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Nyhan (1964); Lloyd et al. (1981); Malleson et al. (1996); McDonald
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and Kelley (1971); McDonald and Kelley (1972); McKeran et al. (1975);
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Migeon (1970); Miller et al. (1983); Newcombe et al. (1966); Nussbaum
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et al. (1983); Nyhan et al. (1965); Nyhan et al. (1967); Race and
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Sanger (1968); Rijksen et al. (1981); Rosenbloom et al. (1967); Sass
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et al. (1965); Seegmiller et al. (1967); Shapiro et al. (1966); Shows
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and Brown (1975); Sperling et al. (1970); Strauss et al. (1981);
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Toyo-Oka et al. (1975); Willers et al. (1977); Wilson et al. (1981);
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Wilson et al. (1982); Wilson et al. (1983); Wilson et al. (1983);
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Wilson et al. (1983); Winter (1980); Yang et al. (1988); Yu et al.
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(1972); Zannis et al. (1980); Zoref and Sperling (1979)
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</span>
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Winter, R. M.
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Yang, T. P., Patel, P. I., Chinault, A. C., Stout, J. T., Jackson, L. G., Hildebrand, B. M., Caskey, C. T.
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Zannis, V. I., Gudas, L. J., Martin, D. W., Jr.
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<strong>Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.</strong>
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<strong>Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome: a sensitive marker for carrier detection.</strong>
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Hilary J. Vernon - updated : 09/10/2020<br>Patricia A. Hartz - updated : 09/26/2017<br>Matthew B. Gross - updated : 09/26/2017<br>Cassandra L. Kniffin - updated : 4/26/2011<br>George E. Tiller - updated : 3/30/2010<br>Patricia A. Hartz - updated : 2/9/2007<br>Deborah L. Stone - updated : 4/11/2002<br>Victor A. McKusick - updated : 3/5/2002<br>Victor A. McKusick - updated : 11/29/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 2/13/2001<br>Victor A. McKusick - updated : 2/18/1999<br>Victor A. McKusick - updated : 8/13/1997<br>Victor A. McKusick - updated : 6/18/1997<br>Moyra Smith - updated : 1/7/1997
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