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Entry
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- *311850 - PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
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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">*311850</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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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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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/311850">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<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=ENSG00000147224;t=ENST00000372435" 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=5631" 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=311850" 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=ENSG00000147224;t=ENST00000372435" 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_001204402,NM_002764" 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_002764" 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=311850" 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=02413&isoform_id=02413_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/PRPS1" 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/35702,220020,2160401,4164582,4506127,12804407,46397477,62897899,119623114,119623115,119623116,189053418,194388620,221046322,324711015" 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/P60891" 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=5631" 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=ENSG00000147224;t=ENST00000372435" 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=PRPS1" 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=PRPS1" 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+5631" 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/PRPS1" 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:5631" 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/5631" 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=ENST00000372435.10&hgg_start=107628510&hgg_end=107651026&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:9462" 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:9462" 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/prps1" 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=311850[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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/72d63b58-1f19-47ee-b0dd-611596e5fd49/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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=311850[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/PRPS1/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/ENSG00000147224" 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.gwascentral.org/search?q=PRPS1" 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=PRPS1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/PRPS1" 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=PRPS1&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/PA33817" 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:9462" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036030.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97775" 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/PRPS1#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:97775" 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/5631/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5631" 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=WBGene00020107;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-011212-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5631" 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=PRPS1&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> 702441001, 723454008, 763460007<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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311850
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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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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PRPS1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PRPS1</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>
|
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Cytogenetic location: <a href="/geneMap/X/552?start=-3&limit=10&highlight=552">Xq22.3</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:107628510-107651026&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:107,628,510-107,651,026</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<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=301835,311070,304500,300661,300661" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552">
|
|
Xq22.3
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Arts syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/301835"> 301835 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Charcot-Marie-Tooth disease, X-linked recessive, 5
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/311070"> 311070 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
|
</span>
|
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</td>
|
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<p>Phosphoribosylpyrophosphate synthetase (PRPS; <a href="https://enzyme.expasy.org/EC/2.7.6.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.6.1</a>) catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis (<a href="#22" class="mim-tip-reference" title="Roessler, B. J., Bell, G., Heidler, S., Seino, S., Becker, M., Palella, T. D. <strong>Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.</strong> Nucleic Acids Res. 18: 193 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2155397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2155397</a>] [<a href="https://doi.org/10.1093/nar/18.1.193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2155397">Roessler et al., 1990</a>). Three PRPS genes have been identified: the widely expressed PRPS1 and PRPS2 (<a href="/entry/311860">311860</a>) genes, which map to chromosome Xq22-q24 and Xp22, respectively, and PRPS3 (PRPS1L1; <a href="/entry/611566">611566</a>), which maps to chromosome 7 and appears to be transcribed only in testis (<a href="#9" class="mim-tip-reference" title="Becker, M. A. <strong>Hyperuricemia and Gout. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2625."None>Becker, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2155397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#22" class="mim-tip-reference" title="Roessler, B. J., Bell, G., Heidler, S., Seino, S., Becker, M., Palella, T. D. <strong>Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.</strong> Nucleic Acids Res. 18: 193 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2155397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2155397</a>] [<a href="https://doi.org/10.1093/nar/18.1.193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2155397">Roessler et al. (1990)</a> isolated a partial clone corresponding to the PRPS1 gene from a human lymphoblast cDNA library. The deduced PRPS1 protein has 318 amino acids and shares 95% amino acid homology with PRPS2. <a href="#3" class="mim-tip-reference" title="Becker, M. A., Heidler, S. A., Bell, G. I., Seino, S., Le Beau, M. M., Westbrook, C. A., Neuman, W., Shapiro, L. J., Mohandas, T. K., Roessler, B. J., Palella, T. D. <strong>Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.</strong> Genomics 8: 555-561, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1962753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1962753</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90043-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1962753">Becker et al. (1990)</a> also cloned the PRPS1 gene and detected a 2.3-kb mRNA transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1962753+2155397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 Northern blot analysis using rat Prps1 as probe, <a href="#26" class="mim-tip-reference" title="Taira, M., Iizasa, T., Yamada, K., Shimada, H., Tatibana, M. <strong>Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript.</strong> Biochim. Biophys. Acta 1007: 203-208, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2537655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2537655</a>] [<a href="https://doi.org/10.1016/0167-4781(89)90040-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2537655">Taira et al. (1989)</a> detected a 2.3-kb transcript in human adipose tissue, testis, and placenta and in 2 human cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> demonstrated that the PRPS1 amino acid sequence shows an exceptionally high degree of conservation, with homologies greater than 95% across different species from zebrafish to human. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The PRPS1 gene spans over 30 kb and contains 7 exons (<a href="#9" class="mim-tip-reference" title="Becker, M. A. <strong>Hyperuricemia and Gout. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2625."None>Becker, 2001</a>).</p>
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<p>By the Goss-Harris method, <a href="#7" class="mim-tip-reference" title="Becker, M. A., Yen, R. C. K., Goss, S. J., Seegmiller, J. E., Itkin, P., Lazar, C., Adams, W. B. <strong>Localization of the structural gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome. (Abstract)</strong> Clin. Res. 26: 500A, 1978."None>Becker et al. (1978)</a> concluded that the order of loci on chromosome Xq is G6PD (<a href="/entry/305900">305900</a>)--HPRT1 (<a href="/entry/308000">308000</a>)--PRPS1--alpha-GAL (GLA; <a href="/entry/300644">300644</a>)--PGK1 (<a href="/entry/311800">311800</a>)--centromere. <a href="#8" class="mim-tip-reference" title="Becker, M. A., Yen, R. C. K., Itkin, P., Goss, S. J., Seegmiller, J. E., Bakay, B. <strong>Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome.</strong> Science 203: 1016-1019, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/218284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">218284</a>] [<a href="https://doi.org/10.1126/science.218284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="218284">Becker et al. (1979)</a> assigned the PRPS1 locus to a position between the GLA and HPRT1 loci, particularly close to the latter, and discussed the functional significance of the proximity of the genes for their biochemically related functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=218284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Becker, M. A., Heidler, S. A., Bell, G. I., Seino, S., Le Beau, M. M., Westbrook, C. A., Neuman, W., Shapiro, L. J., Mohandas, T. K., Roessler, B. J., Palella, T. D. <strong>Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.</strong> Genomics 8: 555-561, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1962753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1962753</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90043-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1962753">Becker et al. (1990)</a> mapped PRPS1 to Xq22-q24 by a combination of in situ hybridization and study of human/rodent somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1962753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogene</em></strong></p><p>
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By in situ chromosomal hybridization, <a href="#3" class="mim-tip-reference" title="Becker, M. A., Heidler, S. A., Bell, G. I., Seino, S., Le Beau, M. M., Westbrook, C. A., Neuman, W., Shapiro, L. J., Mohandas, T. K., Roessler, B. J., Palella, T. D. <strong>Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.</strong> Genomics 8: 555-561, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1962753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1962753</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90043-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1962753">Becker et al. (1990)</a> identified a PRPS1-related gene or pseudogene (PRPS1L2) on chromosome 9q33-q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1962753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#11" class="mim-tip-reference" title="de Brouwer, A. P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J., Duley, J. <strong>PRPS1 mutations: four distinct syndromes and potential treatment.</strong> Am. J. Hum. Genet. 86: 506-518, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20380929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20380929</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20380929[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.2010.02.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20380929">De Brouwer et al. (2010)</a> provided a review of the clinical and molecular features of the 4 distinct syndromes caused by mutation in the PRPS1 gene: PRPS1 superactivity (<a href="/entry/300661">300661</a>), X-linked Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), Arts syndrome (<a href="/entry/301835">301835</a>), and isolated X-linked sensorineural deafness (DFNX1; <a href="/entry/304500">304500</a>). The neurologic phenotype in all 4 PRPS1-related disorders seems to result primarily from reduced levels of GTP and possibly other purine nucleotides including ATP, suggesting that these disorders belong to the same disease spectrum. Preliminary results of S-adenosylmethionine (SAM) supplementation in 2 Australian brothers with Arts syndrome revealed some improvement of their condition, suggesting that SAM supplementation could potentially alleviate some of the symptoms of patients with PRPS1 spectrum diseases by replenishing purine nucleotides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20380929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Phosphoribosylpyrophosphate Synthetase Superactivity</em></strong></p><p>
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In patients with phosphoribosylpyrophosphate synthetase superactivity (<a href="/entry/300661">300661</a>), Roessler et al. (<a href="#24" class="mim-tip-reference" title="Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A. <strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong> Clin. Res. 39: 267A, 1991."None>1991</a>, <a href="#23" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">1993</a>) and <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified mutations in the PRPS1 gene (<a href="#0001">311850.0001</a>-<a href="#0008">311850.0008</a>). All patients except 1 had hyperuricemia, neurodevelopmental abnormalities, and sensorineural deafness; the other patient had only hyperuricemia and gout. Functional expression studies of all mutations showed that enzyme overactivity was due to alteration of allosteric feedback mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7593598+8253776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Charcot-Marie-Tooth Disease, X-linked Recessive, 5</em></strong></p><p>
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In affected males with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), <a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> identified mutations in the PRPS1 gene (<a href="#0009">311850.0009</a>; <a href="#0010">311850.0010</a>). The phenotype includes peripheral neuropathy, sensorineural deafness, and visual impairment. <a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> used a positional cloning technique and evaluation of candidate genes known to be expressed in the cochlea to identify the PRPS1 gene for study. The mutations were shown to result in decreased enzyme activity; none of the affected individuals had increased uric acid or gout. <a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> noted that both PRPS1 superactivity and CMTX5 phenotypes share neurologic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Arts Syndrome</em></strong></p><p>
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Arts syndrome (ARTS; <a href="/entry/301835">301835</a>) is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Using oligonucleotide microarray expression profiling of fibroblasts from 2 probands in a Dutch family with Arts syndrome, <a href="#12" class="mim-tip-reference" title="de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H. <strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong> Am. J. Hum. Genet. 81: 507-518, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701896</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701896[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701896">de Brouwer et al. (2007)</a> found reduced expression levels of PRPS1. Sequencing of PRPS1 led to the identification of 2 different missense mutations: L152P (<a href="#0011">311850.0011</a>) in the Dutch family and Q133P (<a href="#0012">311850.0012</a>) in the Australian family. Both mutations resulted in a loss of PRPS1 activity, as was shown in silico by molecular modeling and was shown in vitro by enzyme assays in erythrocytes and fibroblasts from patients. This was in contrast to the gain-of-function mutations in PRPS1 identified in PRPS-related gout. The loss-of-function mutations of PRPS1 probably result in impaired purine biosynthesis, which was supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. <a href="#12" class="mim-tip-reference" title="de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H. <strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong> Am. J. Hum. Genet. 81: 507-518, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701896</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701896[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701896">De Brouwer et al. (2007)</a> suggested that treatment with S-adenosylmethionine (SAM) theoretically could have therapeutic efficacy to replenish low levels of purine, and a clinical trial involving the 2 affected Australian brothers was underway. <a href="#11" class="mim-tip-reference" title="de Brouwer, A. P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J., Duley, J. <strong>PRPS1 mutations: four distinct syndromes and potential treatment.</strong> Am. J. Hum. Genet. 86: 506-518, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20380929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20380929</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20380929[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.2010.02.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20380929">De Brouwer et al. (2010)</a> reported preliminary results of the 2 Australian brothers with Arts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17701896+20380929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a German family with variable manifestations of PRPS1 deficiency, including a man with a protracted form of Arts syndrome and features of CMTX5 and his sister with X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), <a href="#25" class="mim-tip-reference" title="Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L. <strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong> Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[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/10.1186/1750-1172-9-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24528855">Synofzik et al. (2014)</a> identified a missense mutation in the PRPS1 gene (Q277P; <a href="#0019">311850.0019</a>). The mother of these sibs, who had no hearing deficit or neurologic dysfunction at age 66, also carried the mutation; the mutation was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings illustrated that PRPS1 deficiency can present as a continuous spectrum of clinical features, even within the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24528855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>X-linked Deafness 1</em></strong></p><p>
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In a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss (NSHL) mapping to the DFN2 locus (DFNX1; <a href="/entry/304500">304500</a>) on chromosome Xq22, <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> analyzed 14 candidate genes and identified a missense mutation in the PRPS1 gene (D65N; <a href="#0013">311850.0013</a>) that cosegregated with the phenotype. Analysis of the PRPS1 gene in a British American DFN2 family, previously reported by <a href="#27" class="mim-tip-reference" title="Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M. <strong>Mapping of DFN2 to Xq22.</strong> Hum. Molec. Genet. 5: 2055-2060, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968763">Tyson et al. (1996)</a>, revealed a different missense mutation (A87T; <a href="#0014">311850.0014</a>); missense mutations were also detected in DFN2 families previously reported by <a href="#18" class="mim-tip-reference" title="Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G. <strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong> Am. J. Otol. 20: 621-626, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10503584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10503584</a>]" pmid="10503584">Manolis et al. (1999)</a> and <a href="#10" class="mim-tip-reference" title="Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L. <strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong> J. Genet. 83: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15240907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15240907</a>] [<a href="https://doi.org/10.1007/BF02715827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15240907">Cui et al. (2004)</a> (<a href="#0015">311850.0015</a> and <a href="#0016">311850.0016</a>, respectively). <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> stated that none of the mutations were predicted to result in a major structural change in the PRPS1 protein, which might explain why the disease phenotype was limited to NSHL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15240907+20021999+10503584+8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#13" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human PRPS1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#28" class="mim-tip-reference" title="Wada, Y., Nishimura, Y., Tanabu, M., Yoshimura, Y., Iinuma, K., Yoshida, T., Arakawa, T. <strong>Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.</strong> Tohoku J. Exp. Med. 113: 149-157, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4373874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4373874</a>] [<a href="https://doi.org/10.1620/tjem.113.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4373874">Wada et al. (1974)</a> and <a href="#14" class="mim-tip-reference" title="Iinuma, K., Wada, Y., Onuma, A., Tanabu, M. <strong>Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.</strong> Tohoku J. Exp. Med. 116: 53-55, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/168665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">168665</a>] [<a href="https://doi.org/10.1620/tjem.116.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="168665">Iinuma et al. (1975)</a> reported a Japanese infant with mental retardation, hypouricemia, megaloblastic changes in the bone marrow, and orotic aciduria associated with erythrocyte PRPS deficiency. Hypsarrhythmia was first observed at 10 months of age and markedly improved with ACTH therapy concomitant with an increase in red cell PRPS activity. However, studies in fibroblasts from this patient did not confirm enzyme deficiency (<a href="#9" class="mim-tip-reference" title="Becker, M. A. <strong>Hyperuricemia and Gout. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2625."None>Becker, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4373874+168665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=311850[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">rs137852540 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852540;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=rs137852540" 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=rs137852540" 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=RCV000010606 OR RCV000622306 OR RCV001328985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010606, RCV000622306, RCV001328985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010606...</a>
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<p>In a boy with hyperuricemia, sensorineural deafness, ataxia, and secondary renal insufficiency associated with PRPS1 superactivity (<a href="/entry/300661">300661</a>) reported by <a href="#4" class="mim-tip-reference" title="Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A. <strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong> Biochim. Biophys. Acta 882: 168-176, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2423135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2423135</a>] [<a href="https://doi.org/10.1016/0304-4165(86)90151-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2423135">Becker et al. (1986)</a>, Roessler et al. (<a href="#24" class="mim-tip-reference" title="Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A. <strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong> Clin. Res. 39: 267A, 1991."None>1991</a>, <a href="#23" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">1993</a>) identified a 341A-G transition in the PRPS1 gene, resulting in an asn113-to-ser (N113S) substitution. Biochemical studies in fibroblasts were consistent with PRPS superactivity and purine nucleotide feedback-resistance. The nucleotide sequence of PRPS2 cDNA was normal. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7593598+2423135+8253776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 in vitro functional expression studies in E. coli, <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> demonstrated that the N113S mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852541 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852541;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=rs137852541" 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=rs137852541" 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=RCV000010607 OR RCV003147280" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010607, RCV003147280" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010607...</a>
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<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (<a href="/entry/300661">300661</a>) reported by <a href="#5" class="mim-tip-reference" title="Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L. <strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong> J. Clin. Invest. 65: 109-120, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>] [<a href="https://doi.org/10.1172/JCI109640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6243137">Becker et al. (1980)</a>, Roessler et al. (<a href="#24" class="mim-tip-reference" title="Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A. <strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong> Clin. Res. 39: 267A, 1991."None>1991</a>, <a href="#23" class="mim-tip-reference" title="Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A. <strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong> J. Biol. Chem. 268: 26476-26481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>]" pmid="8253776">1993</a>) identified a 547C-G transversion in the PRPS1 gene, resulting in an asp182-to-his (D182H) substitution. His affected mother had gout, uric acid urolithiasis, and significant hearing loss. The nucleotide sequence of PRPS2 cDNA was normal. Fibroblast studies of this patient and his mother (<a href="#5" class="mim-tip-reference" title="Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L. <strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong> J. Clin. Invest. 65: 109-120, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>] [<a href="https://doi.org/10.1172/JCI109640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6243137">Becker et al., 1980</a>) indicated that the mutant enzyme had both regulatory and catalytic defects. The enzyme showed 4- to 5-fold greater than normal resistance to feedback inhibition and, in addition, increased maximal velocity of the enzyme reaction. The son was hemizygous, and his mother heterozygous, for the defect. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6243137+7593598+8253776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 in vitro functional expression studies in E. coli, <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> demonstrated that the D182H mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852542 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852542;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=rs137852542" 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=rs137852542" 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=RCV000010608" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010608" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010608</a>
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<p>In a man with gout due to PRPS1 superactivity (<a href="/entry/300661">300661</a>) resulting from purine nucleotide feedback-resistance (<a href="#29" class="mim-tip-reference" title="Zoref, E., De Vries, A., Sperling, O. <strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong> J. Clin. Invest. 56: 1093-1099, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171280</a>] [<a href="https://doi.org/10.1172/JCI108183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="171280">Zoref et al., 1975</a>), <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified a 154G-C transversion in the PRPS1 gene, resulting in an asp51-to-his (D51H) substitution. The patient had recurrent uric acid lithiasis since age 14 years and severe gouty arthritis since age 20 years. His mother had increased uric acid excretion. In vitro functional expression studies in E. coli demonstrated that the D51H mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7593598+171280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852543 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852543;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=rs137852543" 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=rs137852543" 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=RCV000010609" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010609" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010609</a>
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<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (<a href="/entry/300661">300661</a>), <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified a 385C-A transversion in the PRPS1 gene, resulting in a leu128-to-ile (L128I) substitution. In vitro functional expression studies in E. coli demonstrated that the L128I mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852544;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=rs137852544" 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=rs137852544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (<a href="/entry/300661">300661</a>), <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified a 569C-T transition in the PRPS1 gene, resulting in an ala189-to-val (A189V) substitution. In vitro functional expression studies in E. coli demonstrated that the A189V mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs137852545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852545;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=rs137852545" 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=rs137852545" 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=RCV000010611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010611</a>
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<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (<a href="/entry/300661">300661</a>), <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> identified a 579C-G transversion in the PRPS1 gene, resulting in a his192-to-gln (H192Q) substitution. In vitro functional expression studies in E. coli demonstrated that the H192Q mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. <a href="#6" class="mim-tip-reference" title="Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L. <strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong> J. Clin. Invest. 96: 2133-2141, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>] [<a href="https://doi.org/10.1172/JCI118267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593598">Becker et al. (1995)</a> numbered the variant based on the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs80338731 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338731;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=rs80338731" 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=rs80338731" 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=RCV000010612" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010612" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010612</a>
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<p>In 2 affected brothers with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), <a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> identified a 129A-C transversion in exon 2 of the PRPS1 gene, resulting in a glu43-to-asp (E43D) substitution on the 'flag' region of the N-terminal domain. The affected residue is highly conserved from zebrafish to human, and the mutation was not observed in 50 unrelated Caucasian individuals or in 1,103 Korean control chromosomes. None of the affected individuals had increased uric acid production or gout. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</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">rs80338732 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338732;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=rs80338732" 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=rs80338732" 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=RCV000010613 OR RCV000695028" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010613, RCV000695028" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010613...</a>
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<p>In affected members of a Korean family with X-linked Charcot-Marie-Tooth disease (CMTX5; <a href="/entry/311070">311070</a>), <a href="#15" class="mim-tip-reference" title="Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W. <strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong> Am. J. Hum. Genet. 81: 552-558, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/519529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701900">Kim et al. (2007)</a> identified a 344T-C transition in exon 3 of the PRPS1 gene, resulting in a met115-to-thr (M115T) substitution in the alpha-helix of the N-terminal domain. The affected residue is highly conserved from zebrafish to human, and the mutation was not observed in 1,103 Korean control chromosomes. In vitro functional expression studies showed that the M115T mutation resulted in partial loss of enzyme function. None of the affected individuals had increased uric acid production or gout. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0011" class="mim-anchor"></a>
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<strong>.0011 ARTS SYNDROME</strong>
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PRPS1, LEU152PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338676 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338676;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=rs80338676" 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=rs80338676" 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=RCV000010614 OR RCV000178182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010614, RCV000178182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010614...</a>
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<p>In a Dutch family with Arts syndrome (ARTS; <a href="/entry/301835">301835</a>) originally reported by <a href="#2" class="mim-tip-reference" title="Arts, W. F. M., Loonen, M. C. B., Sengers, R. C. A., Slooff, J. L. <strong>X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.</strong> Ann. Neurol. 33: 535-539, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8498830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8498830</a>] [<a href="https://doi.org/10.1002/ana.410330519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8498830">Arts et al. (1993)</a>, <a href="#12" class="mim-tip-reference" title="de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H. <strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong> Am. J. Hum. Genet. 81: 507-518, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701896</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701896[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701896">de Brouwer et al. (2007)</a> found that the disorder was associated with a 455T-C transition in exon 4 of the PRPS1 gene that resulted in a leu152-to-pro (L152P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17701896+8498830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 ARTS SYNDROME</strong>
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PRPS1, GLN133PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338675 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338675;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=rs80338675" 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=rs80338675" 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=RCV000010615" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010615" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010615</a>
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<p>In an Australian family with Arts syndrome (ARTS; <a href="/entry/301835">301835</a>), <a href="#12" class="mim-tip-reference" title="de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H. <strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong> Am. J. Hum. Genet. 81: 507-518, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701896</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701896[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701896">de Brouwer et al. (2007)</a> found that the disorder was caused by a 398A-C transversion in exon 3 of the PRPS1 gene that resulted in a gln133-to-pro (Q133P) substitution. Enzyme assays and molecular modeling demonstrated loss of function of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<span class="mim-font">
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<strong>.0013 DEAFNESS, X-LINKED 1</strong>
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PRPS1, ASP65ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs180177151 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs180177151;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=rs180177151" 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=rs180177151" 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=RCV000010616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010616</a>
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<p>In affected members of a large 5-generation Chinese family segregating X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> identified a 193G-A transition in exon 2 of the PRPS1 gene, resulting in an asp65-to-asn (D65N) substitution at a highly conserved residue in the alpha helix at the N terminus. The mutation was not found in 1,025 ethnically matched control chromosomes. Enzymatic activity assays showed reductions of PRPS1 activity in patient erythrocytes of approximately 40 to 70% and in patient fibroblasts of approximately 50 to 60% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20021999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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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<h4>
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<span class="mim-font">
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<strong>.0014 DEAFNESS, X-LINKED 1</strong>
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PRPS1, ALA87THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs180177152 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs180177152;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=rs180177152" 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=rs180177152" 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=RCV000010617 OR RCV001851782" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010617, RCV001851782" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010617...</a>
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<p>In affected members of a British American family segregating X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), previously reported by <a href="#27" class="mim-tip-reference" title="Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M. <strong>Mapping of DFN2 to Xq22.</strong> Hum. Molec. Genet. 5: 2055-2060, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968763">Tyson et al. (1996)</a>, <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> identified a 259G-A transition in exon 2 of the PRPS1 gene, resulting in an ala87-to-thr (A87T) substitution at a highly conserved residue. The mutation was not found in 1,475 Chinese control chromosomes or 450 chromosomes of European descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20021999+8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs180177154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs180177154;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=rs180177154" 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=rs180177154" 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=RCV000010618 OR RCV004757102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010618, RCV004757102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010618...</a>
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<p>In affected members of an American family segregating X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), previously reported by <a href="#18" class="mim-tip-reference" title="Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G. <strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong> Am. J. Otol. 20: 621-626, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10503584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10503584</a>]" pmid="10503584">Manolis et al. (1999)</a>, <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> identified a 916G-A transition in exon 7 of the PRPS1 gene, resulting in a gly306-to-arg (G306R) substitution at a highly conserved residue. The mutation was not found in 1,475 Chinese control chromosomes or 450 chromosomes of European descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20021999+10503584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs180177153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs180177153;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=rs180177153" 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=rs180177153" 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=RCV000010619" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010619" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010619</a>
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<p>In affected members from a Chinese family segregating X-linked postlingual nonsyndromic hearing loss (DFNX1; <a href="/entry/304500">304500</a>), previously reported by <a href="#10" class="mim-tip-reference" title="Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L. <strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong> J. Genet. 83: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15240907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15240907</a>] [<a href="https://doi.org/10.1007/BF02715827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15240907">Cui et al. (2004)</a>, <a href="#17" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> identified an 869T-C transition in exon 7 of the PRPS1 gene, resulting in an ile290-to-thr (I290T) substitution at a highly conserved residue. The mutation was not found in 1,025 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15240907+20021999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs398122855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122855;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=rs398122855" 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=rs398122855" 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=RCV000022882" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022882" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022882</a>
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<p>In a boy with a complex phenotype comprising Arts syndrome and PRPS1 superactivity (see <a href="/entry/301835">301835</a>), <a href="#19" class="mim-tip-reference" title="Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M. <strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong> Am. J. Med. Genet. 158A: 455-460, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>] [<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246954">Moran et al. (2012)</a> identified a 424G-C transversion in exon 4 of the PRPS1 gene, resulting in a val142-to-leu (V142L) substitution at a highly conserved residue. Both the mother and grandmother were heterozygous for the mutation, which was not found in 202 control alleles. The patient had developmental delay, hypotonia, areflexia, motor neuropathy, sensorineural hearing loss, and a Chiari I malformation. Laboratory studies showed increased serum uric acid and increased urinary hypoxanthine consistent with PRPS1 superactivity, but he did not have gout. In addition, he had recurrent infections and early death at age 27 months from infection, consistent with Arts syndrome. A maternal uncle with similar symptoms had died of pneumonia at age 2. Molecular modeling predicted that the substitution would disrupt allosteric sites involved in inhibition of PRPS1, resulting in a gain of enzyme function, and the ATP-binding site, resulting in a loss of enzyme function. Patient fibroblasts showed normal PRPP synthetase activity, whereas erythrocytes showed a loss of enzyme activity, suggesting that the effect of the V142L mutation on protein activity depends on cell type. <a href="#19" class="mim-tip-reference" title="Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M. <strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong> Am. J. Med. Genet. 158A: 455-460, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>] [<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246954">Moran et al. (2012)</a> postulated a gain-of-function effect in proliferating cells and a loss-of-function effect in postmitotic cells. The report indicated that PRPS1 missense mutations can cause a continuous spectrum of features ranging from progressive nonsyndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs587777150 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777150;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=rs587777150" 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=rs587777150" 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=RCV000087131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087131</a>
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<p>In a young Korean man with X-linked recessive Charcot-Marie-Tooth disease (CMTX5; <a href="/entry/311070">311070</a>) with early-onset sensorineural hearing loss but without optic atrophy or visual disturbance, <a href="#20" class="mim-tip-reference" title="Park, J., Hyun, Y. S., Kim, Y. J., Nam, S. H., Kim, S., Hong, Y. B., Park, J.-M., Chung, K. W., Choi, B.-O. <strong>Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.</strong> J. Clin. Neurol. 9: 283-288, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24285972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24285972</a>] [<a href="https://doi.org/10.3988/jcn.2013.9.4.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24285972">Park et al. (2013)</a> identified a hemizygous c.362C-G transversion in exon 3 of the PRPS1 gene, resulting in an ala121-to-gly (A121G) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 135) or 1000 Genomes Project databases, or in 250 healthy controls. The patient's unaffected mother was heterozygous for the mutation. Two maternally related male relatives had a similar disorder, but DNA was not available from these individuals. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24285972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs869025593 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025593;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=rs869025593" 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=rs869025593" 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=RCV000208721 OR RCV000208743" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000208721, RCV000208743" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000208721...</a>
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<p>In a German family with variable manifestations of PRPS1 deficiency, including a man with a protracted form of Arts syndrome (ARTS; <a href="/entry/301835">301835</a>) and his sister with X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), <a href="#25" class="mim-tip-reference" title="Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L. <strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong> Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[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/10.1186/1750-1172-9-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24528855">Synofzik et al. (2014)</a> identified a c.830A-C transversion in the PRPS1 gene, resulting in a gln277-to-pro (Q277P) substitution at a highly conserved residue in the C-terminal domain close to the catalytic site. The mutation was not found in the Exome Variant Server database or in 4,200 ethnically matched control X chromosomes. The mutation was predicted to disrupt the region surrounding the ribose-5-phosphate binding site and thus affect the catalytic site. The mother of these sibs, who had no hearing deficit or neurologic dysfunction at age 66, also carried the mutation; the mutation was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings illustrated that PRPS1 deficiency can present as a continuous spectrum of clinical features, even within the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24528855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</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">rs869025594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025594;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=rs869025594" 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=rs869025594" 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=RCV000208733" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000208733" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000208733</a>
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<p>In 4 females from a 3-generation Spanish family (RP-0482) with variable manifestations of X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), <a href="#1" class="mim-tip-reference" title="Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C. <strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong> Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25491489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25491489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25491489[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/10.1186/s13023-014-0190-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25491489">Almoguera et al. (2014)</a> identified a heterozygous c.46T-C transition (c.46T-C, NM002764) in exon 1 of the PRPS1 gene, resulting in a ser16-to-pro (S16P) substitution at a conserved residue in the first alpha helix in the N-terminal domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project (April 2012 release) and Exome Sequencing Project databases and 669 in-house exomes. The mutation segregated with the disorder in the family and was not found in 258 control X chromosomes. Erythrocyte PRPS1 activity from 3 affected females showed variably decreased levels, which correlated with the age at onset. The proband (IV-3), who was the most severely affected, had significantly skewed X inactivation (82%) of the paternal allele and showed lack of expression of the wildtype allele in lymphocyte mRNA. The proband's sister and mother, who carried the mutation but were less severely affected clinically, did not show significantly skewed X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25491489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 DEAFNESS, X-LINKED 1</strong>
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PRPS1, ALA113SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587781261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587781261;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=rs587781261" 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=rs587781261" 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=RCV000143857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000143857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000143857</a>
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<p>In 2 Italian brothers (family 1) with postlingual X-linked deafness-1 (DFNX1; <a href="/entry/304500">304500</a>), <a href="#21" class="mim-tip-reference" title="Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G. <strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong> Europ. J. Hum. Genet. 23: 766-773, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>] [<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25182139">Robusto et al. (2015)</a> identified a hemizygous c.337G-T transversion (c.337G-T, NM_002764.3) in exon 3 of the PRPS1 gene, resulting in an ala113-to-ser (A113S) substitution in an alpha-helix participating in trimer interface, predicted to destabilize the surrounding environment and possibly affect ATP binding. The mother, who had late-onset moderate hearing loss, was heterozygous for the mutation. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 130), 1000 Genomes Project, and Exome Variant Server databases and was not found in 123 Italian controls. Erythrocyte PRPS1 activity was mildly decreased in the 2 affected males (25-35% of normal controls). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25182139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
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PRPS1, MET115VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587781262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587781262;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=rs587781262" 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=rs587781262" 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=RCV000143858 OR RCV000143859 OR RCV004700434" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000143858, RCV000143859, RCV004700434" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000143858...</a>
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<p>In affected members of an Italian family (family 2) with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), <a href="#21" class="mim-tip-reference" title="Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G. <strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong> Europ. J. Hum. Genet. 23: 766-773, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>] [<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25182139">Robusto et al. (2015)</a> identified a c.343A-G transition (c.343A-G, NM_002764.3) in exon 3 of the PRPS1 gene, resulting in a met115-to-val (M115V) substitution at a highly conserved residue in an alpha-helix participating in trimer interface, predicted to destabilize the ATP-binding site and the allosteric site I. The mutation segregated with the disorder in the family and was not found in the dbSNP (build 130), 1000 Genomes Project, or Exome Variant Server databases. The family was ascertained through a 12-year-old male who had sensorineural hearing loss; subsequent examination of family members showed that those with the mutation had hearing loss as well as subclinical signs of a peripheral neuropathy, which was more evident in males compared to females. Erythrocyte PRPS1 activity was significantly decreased in the 2 affected males (5-10% of normal controls) and mildly decreased in 3 carrier females (34.7-47.7% of normal controls). X-inactivation studies in 1 carrier female showed a normal ratio, but there was preferential expression of the mutant allele (60% vs 40%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25182139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0023 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</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">rs587781263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587781263;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=rs587781263" 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=rs587781263" 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=RCV000143860" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000143860" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000143860</a>
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<p>In affected members of a Peruvian family (family 3) with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>), <a href="#21" class="mim-tip-reference" title="Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G. <strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong> Europ. J. Hum. Genet. 23: 766-773, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>] [<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25182139">Robusto et al. (2015)</a> identified a c.925G-T transversion (c.925G-T, NM_002764.3) in exon 7 of the PRPS1 gene, resulting in a val309-to-phe (V309F) substitution at a highly conserved residue at the trimer interface, predicted to disturb the allosteric type I function as well as hexameric assembly. The mutation segregated with the disorder in the family and was not found in the dbSNP (build 130), 1000 Genomes Project, or Exome Variant Server databases. The family was ascertained through a 14-year-old male who had sensorineural hearing loss and was subsequently found to have subclinical signs of a peripheral neuropathy. The patient's uncle and mother also carried the mutation; the uncle had sensorineural hearing loss and subtle peripheral neuropathy, whereas the mother had mild peripheral neuropathy without hearing loss. Erythrocyte PRPS1 activity was significantly decreased in the male proband (4.05% of normal controls) and mildly decreased in the mother (18.3% of normal controls). The mother had skewed X inactivation with almost exclusive expression of the wildtype allele (85% vs 15%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25182139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#Lebo1978" class="mim-tip-reference" title="Lebo, R. V., Martin, D. W., Jr. <strong>Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans.</strong> Biochem. Genet. 16: 905-916, 1978.">Lebo and Martin (1978)</a>
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<ol>
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<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Almoguera2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
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Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C.
|
|
<strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong>
|
|
Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25491489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25491489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25491489[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25491489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1186/s13023-014-0190-9" target="_blank">Full Text</a>]
|
|
|
|
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|
</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Arts1993" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Arts, W. F. M., Loonen, M. C. B., Sengers, R. C. A., Slooff, J. L.
|
|
<strong>X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.</strong>
|
|
Ann. Neurol. 33: 535-539, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8498830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8498830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8498830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410330519" target="_blank">Full Text</a>]
|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Becker1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Heidler, S. A., Bell, G. I., Seino, S., Le Beau, M. M., Westbrook, C. A., Neuman, W., Shapiro, L. J., Mohandas, T. K., Roessler, B. J., Palella, T. D.
|
|
<strong>Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.</strong>
|
|
Genomics 8: 555-561, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1962753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1962753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1962753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90043-t" target="_blank">Full Text</a>]
|
|
|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Becker1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A.
|
|
<strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong>
|
|
Biochim. Biophys. Acta 882: 168-176, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2423135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2423135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2423135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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[<a href="https://doi.org/10.1016/0304-4165(86)90151-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Becker1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L.
|
|
<strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong>
|
|
J. Clin. Invest. 65: 109-120, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6243137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6243137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6243137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI109640" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Becker1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L.
|
|
<strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong>
|
|
J. Clin. Invest. 96: 2133-2141, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118267" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Becker1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Yen, R. C. K., Goss, S. J., Seegmiller, J. E., Itkin, P., Lazar, C., Adams, W. B.
|
|
<strong>Localization of the structural gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome. (Abstract)</strong>
|
|
Clin. Res. 26: 500A, 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Becker1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Yen, R. C. K., Itkin, P., Goss, S. J., Seegmiller, J. E., Bakay, B.
|
|
<strong>Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome.</strong>
|
|
Science 203: 1016-1019, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/218284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">218284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=218284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.218284" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Becker2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Becker, M. A.
|
|
<strong>Hyperuricemia and Gout. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. P. 2625.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Cui2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L.
|
|
<strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong>
|
|
J. Genet. 83: 35-38, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15240907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15240907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15240907" 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/BF02715827" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="de Brouwer2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
de Brouwer, A. P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J., Duley, J.
|
|
<strong>PRPS1 mutations: four distinct syndromes and potential treatment.</strong>
|
|
Am. J. Hum. Genet. 86: 506-518, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20380929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20380929</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20380929[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20380929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/j.ajhg.2010.02.024" target="_blank">Full Text</a>]
|
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|
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|
|
</li>
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|
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<li>
|
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<a id="12" class="mim-anchor"></a>
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|
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de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H.
|
|
<strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong>
|
|
Am. J. Hum. Genet. 81: 507-518, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701896</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701896[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1086/520706" target="_blank">Full Text</a>]
|
|
|
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|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Dickinson2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Iinuma1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Iinuma, K., Wada, Y., Onuma, A., Tanabu, M.
|
|
<strong>Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.</strong>
|
|
Tohoku J. Exp. Med. 116: 53-55, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/168665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">168665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=168665" 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/10.1620/tjem.116.53" target="_blank">Full Text</a>]
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|
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|
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|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Kim2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W.
|
|
<strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong>
|
|
Am. J. Hum. Genet. 81: 552-558, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/519529" target="_blank">Full Text</a>]
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|
|
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|
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|
|
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|
|
|
|
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|
|
<a id="16" class="mim-anchor"></a>
|
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<a id="Lebo1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Martin, D. W., Jr.
|
|
<strong>Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans.</strong>
|
|
Biochem. Genet. 16: 905-916, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/217337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">217337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=217337" 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/BF00483742" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Liu2010" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others.
|
|
<strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong>
|
|
Am. J. Hum. Genet. 86: 65-71, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20021999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2009.11.015" target="_blank">Full Text</a>]
|
|
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|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Manolis1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G.
|
|
<strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong>
|
|
Am. J. Otol. 20: 621-626, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10503584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10503584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10503584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Moran2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M.
|
|
<strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong>
|
|
Am. J. Med. Genet. 158A: 455-460, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.34428" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Park2013" class="mim-anchor"></a>
|
|
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|
|
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|
|
Park, J., Hyun, Y. S., Kim, Y. J., Nam, S. H., Kim, S., Hong, Y. B., Park, J.-M., Chung, K. W., Choi, B.-O.
|
|
<strong>Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.</strong>
|
|
J. Clin. Neurol. 9: 283-288, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24285972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24285972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24285972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.3988/jcn.2013.9.4.283" target="_blank">Full Text</a>]
|
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|
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|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Robusto2015" class="mim-anchor"></a>
|
|
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|
|
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|
|
Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G.
|
|
<strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong>
|
|
Europ. J. Hum. Genet. 23: 766-773, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25182139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Roessler1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roessler, B. J., Bell, G., Heidler, S., Seino, S., Becker, M., Palella, T. D.
|
|
<strong>Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.</strong>
|
|
Nucleic Acids Res. 18: 193 only, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2155397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2155397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2155397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/18.1.193" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Roessler1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A.
|
|
<strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong>
|
|
J. Biol. Chem. 268: 26476-26481, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8253776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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|
|
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|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Roessler1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A.
|
|
<strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong>
|
|
Clin. Res. 39: 267A, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Synofzik2014" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L.
|
|
<strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong>
|
|
Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24528855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1186/1750-1172-9-24" target="_blank">Full Text</a>]
|
|
|
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|
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|
|
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|
|
|
|
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|
|
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|
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<a id="Taira1989" class="mim-anchor"></a>
|
|
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|
|
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|
|
Taira, M., Iizasa, T., Yamada, K., Shimada, H., Tatibana, M.
|
|
<strong>Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript.</strong>
|
|
Biochim. Biophys. Acta 1007: 203-208, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2537655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2537655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
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[<a href="https://doi.org/10.1016/0167-4781(89)90040-7" target="_blank">Full Text</a>]
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
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|
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<a id="Tyson1996" class="mim-anchor"></a>
|
|
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|
|
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|
|
Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M.
|
|
<strong>Mapping of DFN2 to Xq22.</strong>
|
|
Hum. Molec. Genet. 5: 2055-2060, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank">Full Text</a>]
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|
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|
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|
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|
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|
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Wada, Y., Nishimura, Y., Tanabu, M., Yoshimura, Y., Iinuma, K., Yoshida, T., Arakawa, T.
|
|
<strong>Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.</strong>
|
|
Tohoku J. Exp. Med. 113: 149-157, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4373874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4373874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4373874" 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/10.1620/tjem.113.149" target="_blank">Full Text</a>]
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|
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<a id="Zoref1975" class="mim-anchor"></a>
|
|
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|
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Zoref, E., De Vries, A., Sperling, O.
|
|
<strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong>
|
|
J. Clin. Invest. 56: 1093-1099, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=171280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI108183" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/21/2017
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Cassandra L. Kniffin - updated : 2/10/2016<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Cassandra L. Kniffin - updated : 4/9/2012<br>Cassandra L. Kniffin - updated : 4/30/2010<br>Marla J. F. O'Neill - updated : 2/26/2010<br>Patricia A. Hartz - updated : 10/24/2007<br>Victor A. McKusick - updated : 8/22/2007<br>Cassandra L. Kniffin - reorganized : 8/17/2007<br>Cassandra L. Kniffin - updated : 8/16/2007<br>Rebekah S. Rasooly - updated : 2/26/1999
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Creation Date:
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 03/13/2023
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carol : 01/29/2018<br>alopez : 02/21/2017<br>alopez : 09/23/2016<br>carol : 07/09/2016<br>carol : 3/1/2016<br>carol : 3/1/2016<br>ckniffin : 2/10/2016<br>carol : 1/13/2016<br>carol : 2/25/2014<br>mcolton : 2/21/2014<br>ckniffin : 2/19/2014<br>alopez : 4/20/2012<br>alopez : 4/13/2012<br>alopez : 4/12/2012<br>terry : 4/10/2012<br>ckniffin : 4/9/2012<br>carol : 4/12/2011<br>wwang : 5/4/2010<br>ckniffin : 4/30/2010<br>terry : 4/2/2010<br>carol : 2/26/2010<br>mgross : 10/30/2007<br>terry : 10/24/2007<br>alopez : 8/22/2007<br>carol : 8/17/2007<br>ckniffin : 8/16/2007<br>alopez : 9/10/2004<br>terry : 6/25/2004<br>psherman : 3/1/1999<br>psherman : 2/26/1999<br>dkim : 7/7/1998<br>terry : 11/18/1996<br>terry : 11/4/1996<br>mark : 2/2/1996<br>terry : 1/26/1996<br>terry : 5/10/1994<br>warfield : 4/20/1994<br>carol : 4/11/1994<br>mimadm : 2/28/1994<br>carol : 12/16/1992<br>carol : 12/3/1992
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<strong>*</strong> 311850
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<h3>
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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
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<strong><em>HGNC Approved Gene Symbol: PRPS1</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702441001, 723454008, 763460007;
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<strong>
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<em>
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Cytogenetic location: Xq22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : X:107,628,510-107,651,026 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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Xq22.3
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<span class="mim-font">
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Arts syndrome
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<span class="mim-font">
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301835
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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Charcot-Marie-Tooth disease, X-linked recessive, 5
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<span class="mim-font">
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311070
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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Deafness, X-linked 1
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<span class="mim-font">
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304500
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<span class="mim-font">
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X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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Gout, PRPS-related
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<span class="mim-font">
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300661
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Phosphoribosylpyrophosphate synthetase superactivity
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</td>
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<td>
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<span class="mim-font">
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300661
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Phosphoribosylpyrophosphate synthetase (PRPS; EC 2.7.6.1) catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis (Roessler et al., 1990). Three PRPS genes have been identified: the widely expressed PRPS1 and PRPS2 (311860) genes, which map to chromosome Xq22-q24 and Xp22, respectively, and PRPS3 (PRPS1L1; 611566), which maps to chromosome 7 and appears to be transcribed only in testis (Becker, 2001). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Roessler et al. (1990) isolated a partial clone corresponding to the PRPS1 gene from a human lymphoblast cDNA library. The deduced PRPS1 protein has 318 amino acids and shares 95% amino acid homology with PRPS2. Becker et al. (1990) also cloned the PRPS1 gene and detected a 2.3-kb mRNA transcript. </p><p>By Northern blot analysis using rat Prps1 as probe, Taira et al. (1989) detected a 2.3-kb transcript in human adipose tissue, testis, and placenta and in 2 human cell lines. </p><p>Kim et al. (2007) demonstrated that the PRPS1 amino acid sequence shows an exceptionally high degree of conservation, with homologies greater than 95% across different species from zebrafish to human. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The PRPS1 gene spans over 30 kb and contains 7 exons (Becker, 2001).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By the Goss-Harris method, Becker et al. (1978) concluded that the order of loci on chromosome Xq is G6PD (305900)--HPRT1 (308000)--PRPS1--alpha-GAL (GLA; 300644)--PGK1 (311800)--centromere. Becker et al. (1979) assigned the PRPS1 locus to a position between the GLA and HPRT1 loci, particularly close to the latter, and discussed the functional significance of the proximity of the genes for their biochemically related functions. </p><p>Becker et al. (1990) mapped PRPS1 to Xq22-q24 by a combination of in situ hybridization and study of human/rodent somatic cell hybrids. </p><p><strong><em>Pseudogene</em></strong></p><p>
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By in situ chromosomal hybridization, Becker et al. (1990) identified a PRPS1-related gene or pseudogene (PRPS1L2) on chromosome 9q33-q34. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>De Brouwer et al. (2010) provided a review of the clinical and molecular features of the 4 distinct syndromes caused by mutation in the PRPS1 gene: PRPS1 superactivity (300661), X-linked Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Arts syndrome (301835), and isolated X-linked sensorineural deafness (DFNX1; 304500). The neurologic phenotype in all 4 PRPS1-related disorders seems to result primarily from reduced levels of GTP and possibly other purine nucleotides including ATP, suggesting that these disorders belong to the same disease spectrum. Preliminary results of S-adenosylmethionine (SAM) supplementation in 2 Australian brothers with Arts syndrome revealed some improvement of their condition, suggesting that SAM supplementation could potentially alleviate some of the symptoms of patients with PRPS1 spectrum diseases by replenishing purine nucleotides. </p><p><strong><em>Phosphoribosylpyrophosphate Synthetase Superactivity</em></strong></p><p>
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In patients with phosphoribosylpyrophosphate synthetase superactivity (300661), Roessler et al. (1991, 1993) and Becker et al. (1995) identified mutations in the PRPS1 gene (311850.0001-311850.0008). All patients except 1 had hyperuricemia, neurodevelopmental abnormalities, and sensorineural deafness; the other patient had only hyperuricemia and gout. Functional expression studies of all mutations showed that enzyme overactivity was due to alteration of allosteric feedback mechanisms. </p><p><strong><em>Charcot-Marie-Tooth Disease, X-linked Recessive, 5</em></strong></p><p>
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In affected males with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Kim et al. (2007) identified mutations in the PRPS1 gene (311850.0009; 311850.0010). The phenotype includes peripheral neuropathy, sensorineural deafness, and visual impairment. Kim et al. (2007) used a positional cloning technique and evaluation of candidate genes known to be expressed in the cochlea to identify the PRPS1 gene for study. The mutations were shown to result in decreased enzyme activity; none of the affected individuals had increased uric acid or gout. Kim et al. (2007) noted that both PRPS1 superactivity and CMTX5 phenotypes share neurologic features. </p><p><strong><em>Arts Syndrome</em></strong></p><p>
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Arts syndrome (ARTS; 301835) is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Using oligonucleotide microarray expression profiling of fibroblasts from 2 probands in a Dutch family with Arts syndrome, de Brouwer et al. (2007) found reduced expression levels of PRPS1. Sequencing of PRPS1 led to the identification of 2 different missense mutations: L152P (311850.0011) in the Dutch family and Q133P (311850.0012) in the Australian family. Both mutations resulted in a loss of PRPS1 activity, as was shown in silico by molecular modeling and was shown in vitro by enzyme assays in erythrocytes and fibroblasts from patients. This was in contrast to the gain-of-function mutations in PRPS1 identified in PRPS-related gout. The loss-of-function mutations of PRPS1 probably result in impaired purine biosynthesis, which was supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. De Brouwer et al. (2007) suggested that treatment with S-adenosylmethionine (SAM) theoretically could have therapeutic efficacy to replenish low levels of purine, and a clinical trial involving the 2 affected Australian brothers was underway. De Brouwer et al. (2010) reported preliminary results of the 2 Australian brothers with Arts syndrome. </p><p>In a German family with variable manifestations of PRPS1 deficiency, including a man with a protracted form of Arts syndrome and features of CMTX5 and his sister with X-linked deafness-1 (DFNX1; 304500), Synofzik et al. (2014) identified a missense mutation in the PRPS1 gene (Q277P; 311850.0019). The mother of these sibs, who had no hearing deficit or neurologic dysfunction at age 66, also carried the mutation; the mutation was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings illustrated that PRPS1 deficiency can present as a continuous spectrum of clinical features, even within the same family. </p><p><strong><em>X-linked Deafness 1</em></strong></p><p>
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In a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss (NSHL) mapping to the DFN2 locus (DFNX1; 304500) on chromosome Xq22, Liu et al. (2010) analyzed 14 candidate genes and identified a missense mutation in the PRPS1 gene (D65N; 311850.0013) that cosegregated with the phenotype. Analysis of the PRPS1 gene in a British American DFN2 family, previously reported by Tyson et al. (1996), revealed a different missense mutation (A87T; 311850.0014); missense mutations were also detected in DFN2 families previously reported by Manolis et al. (1999) and Cui et al. (2004) (311850.0015 and 311850.0016, respectively). Liu et al. (2010) stated that none of the mutations were predicted to result in a major structural change in the PRPS1 protein, which might explain why the disease phenotype was limited to NSHL. </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>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>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human PRPS1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </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>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>Wada et al. (1974) and Iinuma et al. (1975) reported a Japanese infant with mental retardation, hypouricemia, megaloblastic changes in the bone marrow, and orotic aciduria associated with erythrocyte PRPS deficiency. Hypsarrhythmia was first observed at 10 months of age and markedly improved with ACTH therapy concomitant with an increase in red cell PRPS activity. However, studies in fibroblasts from this patient did not confirm enzyme deficiency (Becker, 2001). </p>
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</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>23 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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|
|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
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<span class="mim-text-font">
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|
PRPS1, ASN114SER
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|
<br />
|
|
|
|
SNP: rs137852540,
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|
|
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|
|
ClinVar: RCV000010606, RCV000622306, RCV001328985
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with hyperuricemia, sensorineural deafness, ataxia, and secondary renal insufficiency associated with PRPS1 superactivity (300661) reported by Becker et al. (1986), Roessler et al. (1991, 1993) identified a 341A-G transition in the PRPS1 gene, resulting in an asn113-to-ser (N113S) substitution. Biochemical studies in fibroblasts were consistent with PRPS superactivity and purine nucleotide feedback-resistance. The nucleotide sequence of PRPS2 cDNA was normal. Becker et al. (1995) numbered the variant based on the mature protein. </p><p>By in vitro functional expression studies in E. coli, Becker et al. (1995) demonstrated that the N113S mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ASP183HIS
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|
|
<br />
|
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|
|
SNP: rs137852541,
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|
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|
|
ClinVar: RCV000010607, RCV003147280
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (300661) reported by Becker et al. (1980), Roessler et al. (1991, 1993) identified a 547C-G transversion in the PRPS1 gene, resulting in an asp182-to-his (D182H) substitution. His affected mother had gout, uric acid urolithiasis, and significant hearing loss. The nucleotide sequence of PRPS2 cDNA was normal. Fibroblast studies of this patient and his mother (Becker et al., 1980) indicated that the mutant enzyme had both regulatory and catalytic defects. The enzyme showed 4- to 5-fold greater than normal resistance to feedback inhibition and, in addition, increased maximal velocity of the enzyme reaction. The son was hemizygous, and his mother heterozygous, for the defect. Becker et al. (1995) numbered the variant based on the mature protein. </p><p>By in vitro functional expression studies in E. coli, Becker et al. (1995) demonstrated that the D182H mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ASP52HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852542,
|
|
|
|
|
|
|
|
ClinVar: RCV000010608
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man with gout due to PRPS1 superactivity (300661) resulting from purine nucleotide feedback-resistance (Zoref et al., 1975), Becker et al. (1995) identified a 154G-C transversion in the PRPS1 gene, resulting in an asp51-to-his (D51H) substitution. The patient had recurrent uric acid lithiasis since age 14 years and severe gouty arthritis since age 20 years. His mother had increased uric acid excretion. In vitro functional expression studies in E. coli demonstrated that the D51H mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. Becker et al. (1995) numbered the variant based on the mature protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, LEU129ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852543,
|
|
|
|
|
|
|
|
ClinVar: RCV000010609
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (300661), Becker et al. (1995) identified a 385C-A transversion in the PRPS1 gene, resulting in a leu128-to-ile (L128I) substitution. In vitro functional expression studies in E. coli demonstrated that the L128I mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. Becker et al. (1995) numbered the variant based on the mature protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ALA190VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852544,
|
|
|
|
|
|
|
|
ClinVar: RCV000010610
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (300661), Becker et al. (1995) identified a 569C-T transition in the PRPS1 gene, resulting in an ala189-to-val (A189V) substitution. In vitro functional expression studies in E. coli demonstrated that the A189V mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. Becker et al. (1995) numbered the variant based on the mature protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, HIS193GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852545,
|
|
|
|
|
|
|
|
ClinVar: RCV000010611
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with hyperuricemia, mental retardation, and sensorineural deafness associated with PRPS1 superactivity (300661), Becker et al. (1995) identified a 579C-G transversion in the PRPS1 gene, resulting in a his192-to-gln (H192Q) substitution. In vitro functional expression studies in E. coli demonstrated that the H192Q mutation resulted in alteration of the allosteric mechanisms regulating both enzyme inhibition by purine nucleotides and activation by inorganic phosphate. Becker et al. (1995) numbered the variant based on the mature protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, GLU43ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338731,
|
|
|
|
|
|
|
|
ClinVar: RCV000010612
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected brothers with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Kim et al. (2007) identified a 129A-C transversion in exon 2 of the PRPS1 gene, resulting in a glu43-to-asp (E43D) substitution on the 'flag' region of the N-terminal domain. The affected residue is highly conserved from zebrafish to human, and the mutation was not observed in 50 unrelated Caucasian individuals or in 1,103 Korean control chromosomes. None of the affected individuals had increased uric acid production or gout. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, MET115THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338732,
|
|
|
|
|
|
|
|
ClinVar: RCV000010613, RCV000695028
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Korean family with X-linked Charcot-Marie-Tooth disease (CMTX5; 311070), Kim et al. (2007) identified a 344T-C transition in exon 3 of the PRPS1 gene, resulting in a met115-to-thr (M115T) substitution in the alpha-helix of the N-terminal domain. The affected residue is highly conserved from zebrafish to human, and the mutation was not observed in 1,103 Korean control chromosomes. In vitro functional expression studies showed that the M115T mutation resulted in partial loss of enzyme function. None of the affected individuals had increased uric acid production or gout. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ARTS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, LEU152PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338676,
|
|
|
|
|
|
|
|
ClinVar: RCV000010614, RCV000178182
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch family with Arts syndrome (ARTS; 301835) originally reported by Arts et al. (1993), de Brouwer et al. (2007) found that the disorder was associated with a 455T-C transition in exon 4 of the PRPS1 gene that resulted in a leu152-to-pro (L152P) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ARTS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, GLN133PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338675,
|
|
|
|
|
|
|
|
ClinVar: RCV000010615
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Australian family with Arts syndrome (ARTS; 301835), de Brouwer et al. (2007) found that the disorder was caused by a 398A-C transversion in exon 3 of the PRPS1 gene that resulted in a gln133-to-pro (Q133P) substitution. Enzyme assays and molecular modeling demonstrated loss of function of the mutant protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 DEAFNESS, X-LINKED 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ASP65ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs180177151,
|
|
|
|
|
|
|
|
ClinVar: RCV000010616
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large 5-generation Chinese family segregating X-linked deafness-1 (DFNX1; 304500), Liu et al. (2010) identified a 193G-A transition in exon 2 of the PRPS1 gene, resulting in an asp65-to-asn (D65N) substitution at a highly conserved residue in the alpha helix at the N terminus. The mutation was not found in 1,025 ethnically matched control chromosomes. Enzymatic activity assays showed reductions of PRPS1 activity in patient erythrocytes of approximately 40 to 70% and in patient fibroblasts of approximately 50 to 60% compared to controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 DEAFNESS, X-LINKED 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ALA87THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs180177152,
|
|
|
|
|
|
|
|
ClinVar: RCV000010617, RCV001851782
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a British American family segregating X-linked deafness-1 (DFNX1; 304500), previously reported by Tyson et al. (1996), Liu et al. (2010) identified a 259G-A transition in exon 2 of the PRPS1 gene, resulting in an ala87-to-thr (A87T) substitution at a highly conserved residue. The mutation was not found in 1,475 Chinese control chromosomes or 450 chromosomes of European descent. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 DEAFNESS, X-LINKED 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, GLY306ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs180177154,
|
|
|
|
|
|
|
|
ClinVar: RCV000010618, RCV004757102
|
|
|
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|
|
</span>
|
|
</div>
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|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of an American family segregating X-linked deafness-1 (DFNX1; 304500), previously reported by Manolis et al. (1999), Liu et al. (2010) identified a 916G-A transition in exon 7 of the PRPS1 gene, resulting in a gly306-to-arg (G306R) substitution at a highly conserved residue. The mutation was not found in 1,475 Chinese control chromosomes or 450 chromosomes of European descent. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0016 DEAFNESS, X-LINKED 1</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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PRPS1, ILE290THR
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<br />
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SNP: rs180177153,
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ClinVar: RCV000010619
|
|
|
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members from a Chinese family segregating X-linked postlingual nonsyndromic hearing loss (DFNX1; 304500), previously reported by Cui et al. (2004), Liu et al. (2010) identified an 869T-C transition in exon 7 of the PRPS1 gene, resulting in an ile290-to-thr (I290T) substitution at a highly conserved residue. The mutation was not found in 1,025 ethnically matched control chromosomes. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0017 ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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PRPS1, VAL142LEU
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<br />
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SNP: rs398122855,
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ClinVar: RCV000022882
|
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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 boy with a complex phenotype comprising Arts syndrome and PRPS1 superactivity (see 301835), Moran et al. (2012) identified a 424G-C transversion in exon 4 of the PRPS1 gene, resulting in a val142-to-leu (V142L) substitution at a highly conserved residue. Both the mother and grandmother were heterozygous for the mutation, which was not found in 202 control alleles. The patient had developmental delay, hypotonia, areflexia, motor neuropathy, sensorineural hearing loss, and a Chiari I malformation. Laboratory studies showed increased serum uric acid and increased urinary hypoxanthine consistent with PRPS1 superactivity, but he did not have gout. In addition, he had recurrent infections and early death at age 27 months from infection, consistent with Arts syndrome. A maternal uncle with similar symptoms had died of pneumonia at age 2. Molecular modeling predicted that the substitution would disrupt allosteric sites involved in inhibition of PRPS1, resulting in a gain of enzyme function, and the ATP-binding site, resulting in a loss of enzyme function. Patient fibroblasts showed normal PRPP synthetase activity, whereas erythrocytes showed a loss of enzyme activity, suggesting that the effect of the V142L mutation on protein activity depends on cell type. Moran et al. (2012) postulated a gain-of-function effect in proliferating cells and a loss-of-function effect in postmitotic cells. The report indicated that PRPS1 missense mutations can cause a continuous spectrum of features ranging from progressive nonsyndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites affected. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
PRPS1, ALA121GLY
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|
<br />
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|
|
SNP: rs587777150,
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|
|
ClinVar: RCV000087131
|
|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a young Korean man with X-linked recessive Charcot-Marie-Tooth disease (CMTX5; 311070) with early-onset sensorineural hearing loss but without optic atrophy or visual disturbance, Park et al. (2013) identified a hemizygous c.362C-G transversion in exon 3 of the PRPS1 gene, resulting in an ala121-to-gly (A121G) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 135) or 1000 Genomes Project databases, or in 250 healthy controls. The patient's unaffected mother was heterozygous for the mutation. Two maternally related male relatives had a similar disorder, but DNA was not available from these individuals. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 ARTS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
DEAFNESS, X-LINKED 1, INCLUDED
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, GLN277PRO
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs869025593,
|
|
|
|
|
|
|
|
ClinVar: RCV000208721, RCV000208743
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German family with variable manifestations of PRPS1 deficiency, including a man with a protracted form of Arts syndrome (ARTS; 301835) and his sister with X-linked deafness-1 (DFNX1; 304500), Synofzik et al. (2014) identified a c.830A-C transversion in the PRPS1 gene, resulting in a gln277-to-pro (Q277P) substitution at a highly conserved residue in the C-terminal domain close to the catalytic site. The mutation was not found in the Exome Variant Server database or in 4,200 ethnically matched control X chromosomes. The mutation was predicted to disrupt the region surrounding the ribose-5-phosphate binding site and thus affect the catalytic site. The mother of these sibs, who had no hearing deficit or neurologic dysfunction at age 66, also carried the mutation; the mutation was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings illustrated that PRPS1 deficiency can present as a continuous spectrum of clinical features, even within the same family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, SER16PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869025594,
|
|
|
|
|
|
|
|
ClinVar: RCV000208733
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 females from a 3-generation Spanish family (RP-0482) with variable manifestations of X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Almoguera et al. (2014) identified a heterozygous c.46T-C transition (c.46T-C, NM002764) in exon 1 of the PRPS1 gene, resulting in a ser16-to-pro (S16P) substitution at a conserved residue in the first alpha helix in the N-terminal domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project (April 2012 release) and Exome Sequencing Project databases and 669 in-house exomes. The mutation segregated with the disorder in the family and was not found in 258 control X chromosomes. Erythrocyte PRPS1 activity from 3 affected females showed variably decreased levels, which correlated with the age at onset. The proband (IV-3), who was the most severely affected, had significantly skewed X inactivation (82%) of the paternal allele and showed lack of expression of the wildtype allele in lymphocyte mRNA. The proband's sister and mother, who carried the mutation but were less severely affected clinically, did not show significantly skewed X inactivation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 DEAFNESS, X-LINKED 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, ALA113SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587781261,
|
|
|
|
|
|
|
|
ClinVar: RCV000143857
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian brothers (family 1) with postlingual X-linked deafness-1 (DFNX1; 304500), Robusto et al. (2015) identified a hemizygous c.337G-T transversion (c.337G-T, NM_002764.3) in exon 3 of the PRPS1 gene, resulting in an ala113-to-ser (A113S) substitution in an alpha-helix participating in trimer interface, predicted to destabilize the surrounding environment and possibly affect ATP binding. The mother, who had late-onset moderate hearing loss, was heterozygous for the mutation. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 130), 1000 Genomes Project, and Exome Variant Server databases and was not found in 123 Italian controls. Erythrocyte PRPS1 activity was mildly decreased in the 2 affected males (25-35% of normal controls). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, MET115VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587781262,
|
|
|
|
|
|
|
|
ClinVar: RCV000143858, RCV000143859, RCV004700434
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of an Italian family (family 2) with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Robusto et al. (2015) identified a c.343A-G transition (c.343A-G, NM_002764.3) in exon 3 of the PRPS1 gene, resulting in a met115-to-val (M115V) substitution at a highly conserved residue in an alpha-helix participating in trimer interface, predicted to destabilize the ATP-binding site and the allosteric site I. The mutation segregated with the disorder in the family and was not found in the dbSNP (build 130), 1000 Genomes Project, or Exome Variant Server databases. The family was ascertained through a 12-year-old male who had sensorineural hearing loss; subsequent examination of family members showed that those with the mutation had hearing loss as well as subclinical signs of a peripheral neuropathy, which was more evident in males compared to females. Erythrocyte PRPS1 activity was significantly decreased in the 2 affected males (5-10% of normal controls) and mildly decreased in 3 carrier females (34.7-47.7% of normal controls). X-inactivation studies in 1 carrier female showed a normal ratio, but there was preferential expression of the mutant allele (60% vs 40%). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PRPS1, VAL309PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587781263,
|
|
|
|
|
|
|
|
ClinVar: RCV000143860
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Peruvian family (family 3) with X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070), Robusto et al. (2015) identified a c.925G-T transversion (c.925G-T, NM_002764.3) in exon 7 of the PRPS1 gene, resulting in a val309-to-phe (V309F) substitution at a highly conserved residue at the trimer interface, predicted to disturb the allosteric type I function as well as hexameric assembly. The mutation segregated with the disorder in the family and was not found in the dbSNP (build 130), 1000 Genomes Project, or Exome Variant Server databases. The family was ascertained through a 14-year-old male who had sensorineural hearing loss and was subsequently found to have subclinical signs of a peripheral neuropathy. The patient's uncle and mother also carried the mutation; the uncle had sensorineural hearing loss and subtle peripheral neuropathy, whereas the mother had mild peripheral neuropathy without hearing loss. Erythrocyte PRPS1 activity was significantly decreased in the male proband (4.05% of normal controls) and mildly decreased in the mother (18.3% of normal controls). The mother had skewed X inactivation with almost exclusive expression of the wildtype allele (85% vs 15%). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Lebo and Martin (1978)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C.
|
|
<strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong>
|
|
Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.
|
|
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|
|
|
[PubMed: 25491489]
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|
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[Full Text: https://doi.org/10.1186/s13023-014-0190-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Arts, W. F. M., Loonen, M. C. B., Sengers, R. C. A., Slooff, J. L.
|
|
<strong>X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.</strong>
|
|
Ann. Neurol. 33: 535-539, 1993.
|
|
|
|
|
|
[PubMed: 8498830]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410330519]
|
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</p>
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</li>
|
|
|
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<li>
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<p class="mim-text-font">
|
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Becker, M. A., Heidler, S. A., Bell, G. I., Seino, S., Le Beau, M. M., Westbrook, C. A., Neuman, W., Shapiro, L. J., Mohandas, T. K., Roessler, B. J., Palella, T. D.
|
|
<strong>Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.</strong>
|
|
Genomics 8: 555-561, 1990.
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|
|
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|
[PubMed: 1962753]
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[Full Text: https://doi.org/10.1016/0888-7543(90)90043-t]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Becker, M. A., Losman, M. J., Wilson, J., Simmonds, H. A.
|
|
<strong>Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.</strong>
|
|
Biochim. Biophys. Acta 882: 168-176, 1986.
|
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|
[PubMed: 2423135]
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[Full Text: https://doi.org/10.1016/0304-4165(86)90151-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Becker, M. A., Raivio, K. O., Bakay, B., Adams, W. B., Nyhan, W. L.
|
|
<strong>Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.</strong>
|
|
J. Clin. Invest. 65: 109-120, 1980.
|
|
|
|
|
|
[PubMed: 6243137]
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|
[Full Text: https://doi.org/10.1172/JCI109640]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., Switzer, R. L.
|
|
<strong>The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.</strong>
|
|
J. Clin. Invest. 96: 2133-2141, 1995.
|
|
|
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|
|
[PubMed: 7593598]
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[Full Text: https://doi.org/10.1172/JCI118267]
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</p>
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|
</li>
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|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Yen, R. C. K., Goss, S. J., Seegmiller, J. E., Itkin, P., Lazar, C., Adams, W. B.
|
|
<strong>Localization of the structural gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome. (Abstract)</strong>
|
|
Clin. Res. 26: 500A, 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, M. A., Yen, R. C. K., Itkin, P., Goss, S. J., Seegmiller, J. E., Bakay, B.
|
|
<strong>Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X-chromosome.</strong>
|
|
Science 203: 1016-1019, 1979.
|
|
|
|
|
|
[PubMed: 218284]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.218284]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, M. A.
|
|
<strong>Hyperuricemia and Gout. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. P. 2625.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L.
|
|
<strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong>
|
|
J. Genet. 83: 35-38, 2004.
|
|
|
|
|
|
[PubMed: 15240907]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02715827]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Brouwer, A. P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J., Duley, J.
|
|
<strong>PRPS1 mutations: four distinct syndromes and potential treatment.</strong>
|
|
Am. J. Hum. Genet. 86: 506-518, 2010.
|
|
|
|
|
|
[PubMed: 20380929]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2010.02.024]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, R. A., Christodoulou, J., van Bokhoven, H.
|
|
<strong>Arts syndrome is caused by loss-of-function mutations in PRPS1.</strong>
|
|
Am. J. Hum. Genet. 81: 507-518, 2007.
|
|
|
|
|
|
[PubMed: 17701896]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/520706]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
|
|
|
|
|
[PubMed: 27626380]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature19356]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Iinuma, K., Wada, Y., Onuma, A., Tanabu, M.
|
|
<strong>Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.</strong>
|
|
Tohoku J. Exp. Med. 116: 53-55, 1975.
|
|
|
|
|
|
[PubMed: 168665]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1620/tjem.116.53]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, H.-J., Sohn, K.-M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J.-H., Jang, S.-Y., Won, H.-H., Choi, B.-O., Hong, S. H., Kim, B.-J., Suh, Y.-L., Ki, C.-S., Lee, S.-Y., Kim, S.-H., Kim, J.-W.
|
|
<strong>Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMT5X).</strong>
|
|
Am. J. Hum. Genet. 81: 552-558, 2007.
|
|
|
|
|
|
[PubMed: 17701900]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/519529]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lebo, R. V., Martin, D. W., Jr.
|
|
<strong>Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans.</strong>
|
|
Biochem. Genet. 16: 905-916, 1978.
|
|
|
|
|
|
[PubMed: 217337]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00483742]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others.
|
|
<strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong>
|
|
Am. J. Hum. Genet. 86: 65-71, 2010.
|
|
|
|
|
|
[PubMed: 20021999]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.11.015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G.
|
|
<strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong>
|
|
Am. J. Otol. 20: 621-626, 1999.
|
|
|
|
|
|
[PubMed: 10503584]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moran, R., Kuilenburg, A. B. P., Duley, J., Nabuurs, S. B., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H. G., Friedman, N. R., van Bokhoven, H., de Brouwer, A. P. M.
|
|
<strong>Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.val142-to-leu mutation in PRS-I.</strong>
|
|
Am. J. Med. Genet. 158A: 455-460, 2012.
|
|
|
|
|
|
[PubMed: 22246954]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.34428]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Park, J., Hyun, Y. S., Kim, Y. J., Nam, S. H., Kim, S., Hong, Y. B., Park, J.-M., Chung, K. W., Choi, B.-O.
|
|
<strong>Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.</strong>
|
|
J. Clin. Neurol. 9: 283-288, 2013.
|
|
|
|
|
|
[PubMed: 24285972]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3988/jcn.2013.9.4.283]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G.
|
|
<strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong>
|
|
Europ. J. Hum. Genet. 23: 766-773, 2015.
|
|
|
|
|
|
[PubMed: 25182139]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2014.168]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roessler, B. J., Bell, G., Heidler, S., Seino, S., Becker, M., Palella, T. D.
|
|
<strong>Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.</strong>
|
|
Nucleic Acids Res. 18: 193 only, 1990.
|
|
|
|
|
|
[PubMed: 2155397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/18.1.193]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roessler, B. J., Nosal, J. M., Smith, P. R., Heidler, S. A., Palella, T. D., Switzer, R. L., Becker, M. A.
|
|
<strong>Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.</strong>
|
|
J. Biol. Chem. 268: 26476-26481, 1993.
|
|
|
|
|
|
[PubMed: 8253776]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roessler, B. J., Palella, T. D., Heidler, S., Becker, M. A.
|
|
<strong>Identification of distinct PRPS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. (Abstract)</strong>
|
|
Clin. Res. 39: 267A, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L.
|
|
<strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong>
|
|
Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 24528855]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/1750-1172-9-24]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taira, M., Iizasa, T., Yamada, K., Shimada, H., Tatibana, M.
|
|
<strong>Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript.</strong>
|
|
Biochim. Biophys. Acta 1007: 203-208, 1989.
|
|
|
|
|
|
[PubMed: 2537655]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0167-4781(89)90040-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M.
|
|
<strong>Mapping of DFN2 to Xq22.</strong>
|
|
Hum. Molec. Genet. 5: 2055-2060, 1996.
|
|
|
|
|
|
[PubMed: 8968763]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.12.2055]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wada, Y., Nishimura, Y., Tanabu, M., Yoshimura, Y., Iinuma, K., Yoshida, T., Arakawa, T.
|
|
<strong>Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.</strong>
|
|
Tohoku J. Exp. Med. 113: 149-157, 1974.
|
|
|
|
|
|
[PubMed: 4373874]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1620/tjem.113.149]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zoref, E., De Vries, A., Sperling, O.
|
|
<strong>Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout: phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.</strong>
|
|
J. Clin. Invest. 56: 1093-1099, 1975.
|
|
|
|
|
|
[PubMed: 171280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI108183]
|
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</p>
|
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Printed: March 5, 2025
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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