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Entry
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- *606938 - UROPORPHYRINOGEN III SYNTHASE; UROS
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- OMIM
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<p>
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<span class="h4">*606938</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606938">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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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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</ul>
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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 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 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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<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=ENSG00000188690;t=ENST00000368797" 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=7390" 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=606938" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="panel-title">
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<span class="small">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000188690;t=ENST00000368797" 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_000375,NM_001324036,NM_001324037,NM_001324038,NM_001324039,NR_136675,NR_136676,NR_136677,NR_136678,XM_005270140,XM_011540127,XM_017016611,XM_017016612,XM_024448154,XM_024448155,XM_047425708,XM_047425709,XM_047425710,XM_047425711,XR_001747196,XR_007061985,XR_007061986" 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_000375" 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=606938" 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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<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=06087&isoform_id=06087_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/UROS" 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/122849,337463,4557873,11526825,11526827,12803493,13279272,119569606,119569607,119569608,119569609,119569610,119569611,119569612,119569613,119569614,189054738,530394323,767963698,957950333,957950336,1022428128,1022428539,1022432070,1022433136,1034569421,1370457752,1370457754,1370457761,2217278515,2217278521,2217278525,2217278528,2462520855,2462520857,2462520859,2462520861,2462520863,2462520865,2462520868,2462520871,2462520873,2462520876" 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/P10746" 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 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=7390" 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=ENSG00000188690;t=ENST00000368797" 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=UROS" 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=UROS" 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+7390" 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/UROS" 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:7390" 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/7390" 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=chr10&hgg_gene=ENST00000368797.10&hgg_start=125784980&hgg_end=125823258&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:12592" 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:12592" 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/uros" 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=606938[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606938[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000188690" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=UROS" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=UROS" 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=UROS" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=UROS&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/PA37222" 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:12592" 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/FBgn0030066.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:98917" 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/UROS#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:98917" 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/7390/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=7390" 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://zfin.org/ZDB-GENE-040323-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="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:7390" 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=UROS&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> 190913009, 22935002<br />
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<strong>ICD10CM:</strong> E80.0<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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606938
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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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UROPORPHYRINOGEN III SYNTHASE; UROS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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UROIIIS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=UROS" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">UROS</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/10/647?start=-3&limit=10&highlight=647">10q26.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:125784980-125823258&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'})">10:125,784,980-125,823,258</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>
|
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</span>
|
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</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>
|
|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/647?start=-3&limit=10&highlight=647">
|
|
10q26.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Porphyria, congenital erythropoietic
|
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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/263700"> 263700 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606938" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606938" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<p>Uroporphyrinogen III synthase is also known as hydroxymethylbilane hydrolyase (cyclizing) (<a href="https://enzyme.expasy.org/EC/4.2.1.75" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.2.1.75</a>). It is the fourth enzyme in the 8-enzyme pathway in the conversion of glycine and succinyl-CoA to heme. It is responsible for the conversion of the linear tetrapyrrole, hydroxymethylbilane, to the cyclic tetrapyrrole, uroporphyrinogen III (<a href="#16" class="mim-tip-reference" title="Tsai, S.-F., Bishop, D. F., Desnick, R. J. <strong>Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.</strong> Proc. Nat. Acad. Sci. 85: 7049-7053, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174619</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174619">Tsai et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#16" class="mim-tip-reference" title="Tsai, S.-F., Bishop, D. F., Desnick, R. J. <strong>Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.</strong> Proc. Nat. Acad. Sci. 85: 7049-7053, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174619</a>] [<a href="https://doi.org/10.1073/pnas.85.19.7049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174619">Tsai et al. (1988)</a> cloned a full-length cDNA encoding uroporphyrinogen III synthase by screening a human adult liver cDNA library. The sequence encoded a 265-amino acid protein with a molecular mass of 28,607 Da. By Northern blot, 5-prime RACE, and multiple-tissue array analyses, <a href="#1" class="mim-tip-reference" title="Aizencang, G., Solis, C., Bishop, D. F., Warner, C., Desnick, R. J. <strong>Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.</strong> Genomics 70: 223-231, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112350</a>] [<a href="https://doi.org/10.1006/geno.2000.6373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112350">Aizencang et al. (2000)</a> demonstrated the presence of 2 UROS transcripts: an erythroid-specific transcript and a housekeeping transcript, which was present at low levels in all 76 tissues tested, with highest abundance in skeletal and heart muscle and in the caudate nucleus and amygdala. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11112350+3174619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#1" class="mim-tip-reference" title="Aizencang, G., Solis, C., Bishop, D. F., Warner, C., Desnick, R. J. <strong>Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.</strong> Genomics 70: 223-231, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11112350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11112350</a>] [<a href="https://doi.org/10.1006/geno.2000.6373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11112350">Aizencang et al. (2000)</a> determined the structure of the 34-kb UROS gene. It contains alternative erythroid-specific and housekeeping promoters and a coding sequence comprising 9 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Meng, X., Liu, J., Shen, Z. <strong>Genomic structure of the human BCCIP gene and its expression in cancer.</strong> Gene 302: 139-146, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12527204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12527204</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)01098-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12527204">Meng et al. (2003)</a> determined that the 5-prime end of the UROS gene abuts the BCCIP gene (<a href="/entry/611883">611883</a>) on the opposite strand in a head-to-head manner. BCCIP and UROS share a functional intergenic bidirectional promoter that contains binding sites for various transcription factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12527204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using cloned cDNA, <a href="#2" class="mim-tip-reference" title="Astrin, K. H., Warner, C. A., Yoo, H.-W., Goodfellow, P. J., Tsai, S.-F., Desnick, R. J. <strong>Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2-q26.3.</strong> Hum. Genet. 87: 18-22, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2037278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2037278</a>] [<a href="https://doi.org/10.1007/BF01213085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2037278">Astrin et al. (1991)</a> mapped the UROS gene to 10q25.2-q26.3. The assignment to chromosome 10 was also found when UROS sequences were specifically amplified by PCR from genomic DNA from independent panels of human-rodent somatic cell hybrids; there was 100% concordance for the presence of the human UROS PCR product and human chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2037278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#20" class="mim-tip-reference" title="Xu, W., Kozak, C. A., Desnick, R. J. <strong>Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.</strong> Genomics 26: 556-562, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607680</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80175-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7607680">Xu et al. (1995)</a> cloned the mouse gene and mapped it to chromosome 7 in a region of conserved synteny with human chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Gunther disease (CEP; <a href="/entry/263700">263700</a>), <a href="#6" class="mim-tip-reference" title="Deybach, J.-C., de Verneuil, H., Boulechfar, S., Grandchamp, B., Nordmann, Y. <strong>Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease).</strong> Blood 75: 1763-1765, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2331520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2331520</a>]" pmid="2331520">Deybach et al. (1990)</a> and <a href="#17" class="mim-tip-reference" title="Warner, C. A., Yoo, H. W., Tsai, S.-F., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A83 only, 1990."None>Warner et al. (1990)</a> identified a mutation in codon 73 of the uroporphyrinogen III synthase gene (<a href="#0001">606938.0001</a>). <a href="#21" class="mim-tip-reference" title="Xu, W., Warner, C. A., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 95: 905-912, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7860775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7860775</a>] [<a href="https://doi.org/10.1172/JCI117742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7860775">Xu et al. (1995)</a> used a rapid sequencing technique to analyze all 10 exons of the UROS gene from 20 unrelated patients with congenital erythropoietic porphyria. Of the 14 mutations identified, 10 were new. The new mutations included 6 missense mutations, a nonsense mutation, a frameshift mutation, and 2 splicing mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2331520+7860775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#19" class="mim-tip-reference" title="Xu, W., Astrin, K. H., Desnick, R. J. <strong>Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.</strong> Hum. Mutat. 7: 187-192, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829650</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8829650">Xu et al. (1996)</a> stated that 17 mutations in the UROS gene had been reported as the basis of CEP: 11 missense, 1 nonsense, 2 mRNA splicing defects, 1 deletion, and 2 coding region insertions. With the exception of C73R (<a href="#0001">606938.0001</a>) and L4F (<a href="#0006">606938.0006</a>) which occurred in 29.6% and 9.3% of the 54 mutant alleles studied, respectively, most mutations had been identified in 1 or a few unrelated families. Analyses had revealed only 83% of the causative mutations. The V82F (<a href="#0009">606938.0009</a>) mutation, resulting from a G-to-T transversion of the last nucleotide of exon 4, caused both a missense mutation and an aberrantly spliced RNA transcript. Prokaryotic expression of the mutant UROS alleles identified those with significant residual activity, thereby permitting genotype/phenotype predictions in this clinically heterogeneous disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Shady, A. A., Colby, B. R., Cunha, L. F., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.</strong> Brit. J. Haemat. 117: 980-987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060141</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03558.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12060141">Shady et al. (2002)</a> identified 8 novel mutations in the UROS gene in cases of CEP. Expression studies in E. coli showed that only 1 of the 4 novel missense mutations identified, glu81 to asp (E81D; <a href="#0011">606938.0011</a>), expressed significant enzymatic activity (30% of expressed wildtype activity), which was thermolabile. In addition, RT-PCR studies demonstrated that E81D, which altered the penultimate nucleotide in exon 4, impaired splicing and caused approximately 85% exon 4 skipping. The phenotype in 7 probands studied varied from mild, cutaneous only, to severe, transfusion-dependent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 mutation analysis of 40 unrelated patients with CEP, <a href="#5" class="mim-tip-reference" title="Desnick, R. J., Glass, I. A., Xu, W., Solis, C., Astrin, K. H. <strong>Molecular genetics of congenital erythropoietic porphyria.</strong> Semin. Liver Dis. 18: 77-84, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9516681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9516681</a>] [<a href="https://doi.org/10.1055/s-2007-1007143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9516681">Desnick et al. (1998)</a> identified both UROS mutant alleles in 29 patients and only 1 of the mutant alleles in 11 patients (11 unidentified mutations in 80 alleles, or 13.8%). <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a> sequenced the erythroid-specific promoter of the UROS gene in 6 patients with a single previously undefined allele and identified 4 novel mutations clustered in a 20-bp region: a -70T-C transition (<a href="#0013">606938.0013</a>) in a putative GATA1 consensus binding element; a -76G-A transition (<a href="#0014">606938.0014</a>); a -86C-A transversion (<a href="#0015">606938.0015</a>) in 3 unrelated patients; and a -90C-A transversion (<a href="#0016">606938.0016</a>) in a putative CP2 binding motif. They inserted these mutant sequences into luciferase reporter constructs. When transfected into K562 erythroid cells, these constructs yielded greatly reduced reporter activity as compared with the wildtype promoter. Electrophoretic mobility shift assays indicated that the -70T-C transition altered GATA1 binding, whereas the adjacent -76G-A transition did not. Similarly, the -90C-A transversion altered CP2 binding, whereas the -86C-A transversion did not. Thus, these 4 pathogenic erythroid promoter mutations impaired erythroid-specific transcription, caused CEP, and identified functionally important GATA1 and CP2 transcriptional binding elements for erythroid-specific heme biosynthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9516681+11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Ged, C., Mendez, M., Robert, E., Lalanne, M., Lamrissi-Garcia, I., Costet, P., Daniel, J. Y., Dubus, P., Mazurier, F., Moreau-Gaudry, F., de Verneuil, H. <strong>A knock-in mouse model of congenital erythropoietic porphyria.</strong> Genomics 87: 84-92, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16314073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16314073</a>] [<a href="https://doi.org/10.1016/j.ygeno.2005.08.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16314073">Ged et al. (2006)</a> stated that knockout of the Uros gene in mice results in nonviable blastocysts. By gene targeting, they developed a knockin model that reproduced the human pro248-to-gln (P248Q; <a href="#0020">606938.0020</a>) mutation, which leads to severe UROS deficiency. Heterozygous mice appeared normal, but homozygous mutant mice were hypotrophic at birth and produced red urine and showed erythrodontia in the first weeks of life. Homozygous mutant mice also showed photosensitivity and hepatosplenomegaly, and uroporphyrin (99% type I isomer) accumulated in urine. Total porphyrins were increased in erythrocytes and feces, while Uros enzymatic activity was below 1% of the normal level in tissues analyzed, closely mimicking CEP in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16314073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>21 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606938[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"><span class="text-primary">●</span> rs121908012 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908012;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908012?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908012" 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=rs121908012" 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=RCV000003948 OR RCV000726590 OR RCV004754240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003948, RCV000726590, RCV004754240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003948...</a>
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<p>In a patient with Gunther disease (CEP; <a href="/entry/263700">263700</a>), <a href="#6" class="mim-tip-reference" title="Deybach, J.-C., de Verneuil, H., Boulechfar, S., Grandchamp, B., Nordmann, Y. <strong>Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease).</strong> Blood 75: 1763-1765, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2331520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2331520</a>]" pmid="2331520">Deybach et al. (1990)</a> found heterozygosity for a T-to-C change in codon 73 (cysteine to arginine; C73R) and a C-to-T change in codon 53 (proline to leucine, or P53L; <a href="#0002">606938.0002</a>). <a href="#17" class="mim-tip-reference" title="Warner, C. A., Yoo, H. W., Tsai, S.-F., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A83 only, 1990."None>Warner et al. (1990)</a> likewise demonstrated the C73R mutation. <a href="#18" class="mim-tip-reference" title="Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 89: 693-700, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>] [<a href="https://doi.org/10.1172/JCI115637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737856">Warner et al. (1992)</a> found this mutation in 8 of 21 unrelated CEP patients (21% of CEP alleles). <a href="#4" class="mim-tip-reference" title="Boulechfar, S., Da Silva, V., Deybach, J.-C., Nordmann, Y., Grandchamp, B., de Verneuil, H. <strong>Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Hum. Genet. 88: 320-324, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>] [<a href="https://doi.org/10.1007/BF00197267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733834">Boulechfar et al. (1992)</a> concluded that the C73R mutation is the most frequent one found in CEP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2331520+1737856+1733834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>According to <a href="#14" class="mim-tip-reference" title="Tanigawa, K., Takamura, N., Yamashita, S. <strong>Congenital erythropoietic porphyria.</strong> Nippon Rinsho 53: 1422-1426, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616657</a>]" pmid="7616657">Tanigawa et al. (1995)</a>, the C73R mutation accounts for over 40% of all mutant UROS alleles in CEP. <a href="#9" class="mim-tip-reference" title="Frank, J., Wang, X., Lam, H.-M., Aita, V. M., Jugert, F. K., Goerz, G., Merk, H. F., Poh-Fitzpatrick, M. B., Christiano, A. M. <strong>C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Ann. Hum. Genet. 62: 225-230, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9803266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9803266</a>] [<a href="https://doi.org/10.1046/j.1469-1809.1998.6230225.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9803266">Frank et al. (1998)</a> investigated 3 separate families with CEP from different ethnic backgrounds. Haplotype analysis using 2 microsatellite markers that closely flank the UROS gene on 10q24, spanning a region of 4 cM, showed that the C73R mutation occurred on different haplotypes in all 4 disease chromosomes studied. The results were considered consistent with the hypothesis that C73R is a hotspot mutation for CEP, and does not represent wide dispersion of a single ancestral mutant C73R allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7616657+9803266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Fortian, A., Gonzalez, E., Castano, D., Falcon-Perez, J. M., Millet, O. <strong>Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.</strong> J. Biol. Chem. 286: 13127-13133, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21343304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21343304</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21343304[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/10.1074/jbc.M110.205849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21343304">Fortian et al. (2011)</a> found that the C73R mutation destabilized the UROIIIS protein via irreversible unfolding and aggregation, followed by proteasomal degradation. At physiologic temperature, wildtype UROIIIS had a half-life of 2.5 days, whereas the C73R mutant protein had a half-life of 15 minutes. Treatment of cells with a proteasome inhibitor restored mutant protein levels, and the restored mutant protein showed 50% of wildtype enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21343304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs121908013 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908013;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=rs121908013" 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=rs121908013" 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=RCV000003949" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003949" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003949</a>
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<p>In a patient with Gunther disease (CEP; <a href="/entry/263700">263700</a>), <a href="#6" class="mim-tip-reference" title="Deybach, J.-C., de Verneuil, H., Boulechfar, S., Grandchamp, B., Nordmann, Y. <strong>Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease).</strong> Blood 75: 1763-1765, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2331520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2331520</a>]" pmid="2331520">Deybach et al. (1990)</a> found homozygosity for the pro53-to-leu mutation (P53L) in the UROS gene that was found in another patient in a genetic compound; see <a href="#0001">606938.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2331520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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">rs28941774 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941774;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=rs28941774" 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=rs28941774" 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 patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), Warner et al. (<a href="#17" class="mim-tip-reference" title="Warner, C. A., Yoo, H. W., Tsai, S.-F., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A83 only, 1990."None>1990</a>, <a href="#18" class="mim-tip-reference" title="Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 89: 693-700, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>] [<a href="https://doi.org/10.1172/JCI115637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737856">1992</a>) demonstrated a 197C-T transition in the UROS gene, resulting in a substitution of valine for alanine at position 66. The patient was a compound heterozygote for this and the cys73-to-arg mutation (C73R; <a href="#0001">606938.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1737856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28941775 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941775;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28941775?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28941775" 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=rs28941775" 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=RCV000003951" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003951" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003951</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#18" class="mim-tip-reference" title="Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 89: 693-700, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>] [<a href="https://doi.org/10.1172/JCI115637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737856">Warner et al. (1992)</a> found a 184A-G transition in the UROS gene that predicted a thr62-to-ala (T62A) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1737856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908014 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908014;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908014?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908014" 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=rs121908014" 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=RCV000003952 OR RCV001851631 OR RCV003407267" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003952, RCV001851631, RCV003407267" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003952...</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#18" class="mim-tip-reference" title="Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 89: 693-700, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>] [<a href="https://doi.org/10.1172/JCI115637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737856">Warner et al. (1992)</a> demonstrated a 683C-T transition in the UROS gene that resulted in a thr228-to-met (T228M) substitution. <a href="#18" class="mim-tip-reference" title="Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 89: 693-700, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>] [<a href="https://doi.org/10.1172/JCI115637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737856">Warner et al. (1992)</a> performed genotype-phenotype correlations: the A66V/C73R, T228M/C73R, and C73R/C73R genotypes were associated with mild, moderately severe, and severe disease, respectively. <a href="#4" class="mim-tip-reference" title="Boulechfar, S., Da Silva, V., Deybach, J.-C., Nordmann, Y., Grandchamp, B., de Verneuil, H. <strong>Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Hum. Genet. 88: 320-324, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>] [<a href="https://doi.org/10.1007/BF00197267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733834">Boulechfar et al. (1992)</a> also identified this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1737856+1733834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, LEU4PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908015 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908015;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908015?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908015" 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=rs121908015" 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=RCV000003953 OR RCV001851632 OR RCV004754241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003953, RCV001851632, RCV004754241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003953...</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#4" class="mim-tip-reference" title="Boulechfar, S., Da Silva, V., Deybach, J.-C., Nordmann, Y., Grandchamp, B., de Verneuil, H. <strong>Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Hum. Genet. 88: 320-324, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>] [<a href="https://doi.org/10.1007/BF00197267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733834">Boulechfar et al. (1992)</a> identified a C-to-T transition at nucleotide 10 of the UROS gene, resulting in substitution of phenylalanine for leucine-4 (L4F). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, 98-BP DEL, NT148
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2133941461 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2133941461;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=rs2133941461" 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=rs2133941461" 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=RCV000003954" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003954" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003954</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#4" class="mim-tip-reference" title="Boulechfar, S., Da Silva, V., Deybach, J.-C., Nordmann, Y., Grandchamp, B., de Verneuil, H. <strong>Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Hum. Genet. 88: 320-324, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>] [<a href="https://doi.org/10.1007/BF00197267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733834">Boulechfar et al. (1992)</a> demonstrated deletion of nucleotides 148-245 in the UROS gene. The deleted segment included the sites of 2 previously described point mutations, pro53-to-leu (P53L; <a href="#0002">606938.0002</a>) and cys73-to-arg (C73R; <a href="#0001">606938.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, 80-BP INS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003955" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003955" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003955</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#4" class="mim-tip-reference" title="Boulechfar, S., Da Silva, V., Deybach, J.-C., Nordmann, Y., Grandchamp, B., de Verneuil, H. <strong>Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Hum. Genet. 88: 320-324, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>] [<a href="https://doi.org/10.1007/BF00197267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733834">Boulechfar et al. (1992)</a> identified an 80-bp insertion in the UROS gene that created a frameshift at codon 221, leading to a new sequence of 45 amino acids at the C-terminal part of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908016;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908016?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908016" 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=rs121908016" 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=RCV000003956 OR RCV003480019" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003956, RCV003480019" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003956...</a>
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<p>In a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#21" class="mim-tip-reference" title="Xu, W., Warner, C. A., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 95: 905-912, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7860775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7860775</a>] [<a href="https://doi.org/10.1172/JCI117742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7860775">Xu et al. (1995)</a> found a val82-to-phe (V82F) missense mutation in the UROS gene. The mutation occurred adjacent to the 5-prime donor site of intron 4 and resulted in approximately 54% aberrantly spliced transcripts with exon 4 deleted. Thus, this novel exonic single-base substitution caused 2 lesions: an amino acid substitution and an aberrantly spliced transcript. The mutation causing V82F is a G-to-T transversion of the last nucleotide of exon 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7860775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908017 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908017;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908017?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908017" 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=rs121908017" 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=RCV000003957" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003957" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003957</a>
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<p>In an 18-month-old female with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#15" class="mim-tip-reference" title="Tezcan, I., Xu, W., Gurgey, A., Tuncer, M., Cetin, M., Oner, C., Yetgin, S., Ersoy, F., Aizencang, G., Astrin, K. H., Desnick, R. J. <strong>Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.</strong> Blood 92: 4053-4058, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9834209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9834209</a>]" pmid="9834209">Tezcan et al. (1998)</a> identified a G-to-A transition at nucleotide 562 in the UROS gene, predicting a gly188-to-arg (G188R) substitution. Both parents were found to be carriers of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9834209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, GLU81ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908018 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908018;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=rs121908018" 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=rs121908018" 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=RCV000003958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003958</a>
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<p>In an Indian patient with mild, cutaneous-only congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), the offspring of nonconsanguineous parents, <a href="#12" class="mim-tip-reference" title="Shady, A. A., Colby, B. R., Cunha, L. F., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.</strong> Brit. J. Haemat. 117: 980-987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060141</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03558.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12060141">Shady et al. (2002)</a> found compound heterozygosity for glu81-to-asp (E81D) and gly188-to-trp (G188W; <a href="#0012">606938.0012</a>) mutations in the UROS gene. The E81D mutation resulted from a 243A-T transversion. The G188W mutation resulted from a 562G-T transversion in exon 9, which predicted the substitution of a larger, hydrophobic tryptophan for an uncharged glycine. The same codon is involved in the G188R mutation (<a href="#0010">606938.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, GLY188TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908017 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908017;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908017?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908017" 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=rs121908017" 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=RCV000003959" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003959" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003959</a>
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<p>For discussion of the gly188-to-trp (G188W) mutation in the UROS gene that was found in a patient with mild, cutaneous-only congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>) by <a href="#12" class="mim-tip-reference" title="Shady, A. A., Colby, B. R., Cunha, L. F., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.</strong> Brit. J. Haemat. 117: 980-987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060141</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03558.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12060141">Shady et al. (2002)</a>, see <a href="#0011">606938.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, -70T-C, PROMOTER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554891988 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554891988;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=rs1554891988" 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=rs1554891988" 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=RCV000003960" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003960" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003960</a>
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<p>In a French male fetus with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>) and nonimmune hydrops fetalis (CEP; <a href="/entry/236750">236750</a>), <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a> identified compound heterozygosity for 2 mutations in the UROS gene: a -70T-C transition in the erythroid promoter and C73R (<a href="#0001">606938.0001</a>). In addition, they identified heterozygosity for a -224T-C transition, which was present in approximately 4% of 200 unrelated Caucasian alleles. The healthy father was heterozygous for the -70T-C mutation and homozygous for the -224C polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</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">rs397515349 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515349;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=rs397515349" 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=rs397515349" 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=RCV000003961 OR RCV001851633" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003961, RCV001851633" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003961...</a>
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<p>In a 49-year-old American male with mild, cutaneous-only congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a> identified compound heterozygosity for 2 mutations in the UROS gene: a -76G-A transition in the erythroid promoter and C73R (<a href="#0001">606938.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</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">rs397515350 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515350;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=rs397515350" 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=rs397515350" 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=RCV000003962 OR RCV001851634" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003962, RCV001851634" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003962...</a>
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<p>In 3 unrelated patients with mild, cutaneous-only congenital erythropoietic porphyria (<a href="/entry/263700">263700</a>), <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a> identified compound heterozygosity for 2 mutations in the UROS gene: a -86C-A transversion in the erythroid promoter and a second allele, which was different in each patient. The second allele was a C73R mutation (<a href="#0001">606938.0001</a>) in a 19-year-old Scandinavian female, a donor splice site at intron 2 (<a href="#0018">606938.0018</a>) in a 60-year-old Scandinavian female originally studied by <a href="#21" class="mim-tip-reference" title="Xu, W., Warner, C. A., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 95: 905-912, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7860775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7860775</a>] [<a href="https://doi.org/10.1172/JCI117742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7860775">Xu et al. (1995)</a>, and a 1-bp insertion, 398insG (<a href="#0019">606938.0019</a>), in a 44-year-old English male. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7860775+11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</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">rs397515351 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515351;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=rs397515351" 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=rs397515351" 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=RCV000003963" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003963" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003963</a>
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<p>In a 33-year-old English male with moderately severe transfusion-dependent congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a> identified compound heterozygosity for 2 mutations in the UROS gene: a -90C-A transversion in the erythroid promoter and G225S (<a href="#0017">606938.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, GLY225SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908020 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908020;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908020?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908020" 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=rs121908020" 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=RCV000003964 OR RCV001851635" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003964, RCV001851635" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003964...</a>
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<p>For discussion of the gly225-to-ser (G225S) mutation in the UROS gene that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>) by <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a>, see <a href="#0016">606938.0016</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>.0018 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, IVS2DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs373864821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373864821;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs373864821?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs373864821" 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=rs373864821" 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=RCV000003965 OR RCV001851636 OR RCV003407268" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003965, RCV001851636, RCV003407268" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003965...</a>
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<p>For discussion of the splice site mutation in the UROS gene that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>) by <a href="#21" class="mim-tip-reference" title="Xu, W., Warner, C. A., Desnick, R. J. <strong>Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.</strong> J. Clin. Invest. 95: 905-912, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7860775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7860775</a>] [<a href="https://doi.org/10.1172/JCI117742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7860775">Xu et al. (1995)</a> and <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a>, see <a href="#0015">606938.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11254675+7860775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</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">rs796051859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796051859;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=rs796051859" 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=rs796051859" 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=RCV000003966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003966</a>
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<p>For discussion of the 1-bp insertion in the UROS gene (398insG) that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>) by <a href="#13" class="mim-tip-reference" title="Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J. <strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong> J. Clin. Invest. 107: 753-762, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>] [<a href="https://doi.org/10.1172/JCI10642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11254675">Solis et al. (2001)</a>, see <a href="#0015">606938.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</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">rs121908021 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908021;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=rs121908021" 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=rs121908021" 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=RCV000003967" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003967" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003967</a>
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<p><a href="#7" class="mim-tip-reference" title="Fontanellas, A., Bensidhoum, M., Enriquez de Salamanca, R., Tirado, A. M., de Verneuil, H., Ged, C. <strong>A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong> Europ. J. Hum. Genet. 4: 274-282, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946173</a>] [<a href="https://doi.org/10.1159/000472214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946173">Fontanellas et al. (1996)</a> identified a C-to-A transversion at nucleotide 743 in exon 10 of the UROS gene, resulting in a pro248-to-gln (P248Q) substitution, in 3 patients from 2 Spanish families with severe congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>). All 3 patients also carried the cys73-to-arg mutation (C73R; <a href="#0001">606938.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
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UROS, IVS9, T-G, -31
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs750180293 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750180293;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs750180293?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs750180293" 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=rs750180293" 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=RCV000023601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023601</a>
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<p>In 3 unrelated patients with congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), <a href="#3" class="mim-tip-reference" title="Bishop, D. F., Schneider-Yin, X., Clavero, S., Yoo, H.-W., Minder, E. I., Desnick, R. J. <strong>Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.</strong> Blood 115: 1062-1069, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19965637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19965637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19965637[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/10.1182/blood-2009-04-218016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19965637">Bishop et al. (2010)</a> identified a homozygous T-to-G transversion in intron 9 of the UROS gene 31 bp upstream from exon 10 (661-31T-G). The mutation was not found in 100 control alleles. The mutation resulted in the generation of several alternatively spliced longer transcripts containing excess nucleotides from intron 9, including one or more sequences of 81, 165, or 277 bp. The 81-bp insertion was in-frame and resulted in a functional transcript that contributed only about 0.2% residual activity, whereas the other alternative transcripts resulted in premature termination. RT-PCR of patient lymphoblasts showed about 10% normal 1.5-kb transcript with 27% abnormal transcript, and residual UROS activity was about 14%. Two of the patients were men of Ashkenazi descent. One was severely affected from birth with marked photosensitivity, hepatosplenomegaly, and anemia. The other required red cell transfusions, but had significant periods during adolescence without treatment. He had marked cutaneous involvement resulting from unprotected exposure to sunlight. The third patient was a 44-year-old man of Lebanese descent whose parents were consanguineous. He had had chronic, progressive skin ulcerations since adolescence that eventually disfigured his sun-exposed face and hands; he also had anemia. All patients had markedly elevated levels of uroporphyrin I in the urine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19965637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1006/geno.2000.6373" target="_blank">Full Text</a>]
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<strong>Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2-q26.3.</strong>
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[<a href="https://doi.org/10.1007/BF01213085" target="_blank">Full Text</a>]
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Bishop, D. F., Schneider-Yin, X., Clavero, S., Yoo, H.-W., Minder, E. I., Desnick, R. J.
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<strong>Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.</strong>
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Blood 115: 1062-1069, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19965637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19965637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19965637[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=19965637" 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/10.1182/blood-2009-04-218016" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733834" 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/BF00197267" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2007-1007143" target="_blank">Full Text</a>]
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Deybach, J.-C., de Verneuil, H., Boulechfar, S., Grandchamp, B., Nordmann, Y.
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Blood 75: 1763-1765, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2331520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2331520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2331520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fontanellas, A., Bensidhoum, M., Enriquez de Salamanca, R., Tirado, A. M., de Verneuil, H., Ged, C.
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<strong>A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong>
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Europ. J. Hum. Genet. 4: 274-282, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000472214" target="_blank">Full Text</a>]
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Fortian, A., Gonzalez, E., Castano, D., Falcon-Perez, J. M., Millet, O.
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Frank, J., Wang, X., Lam, H.-M., Aita, V. M., Jugert, F. K., Goerz, G., Merk, H. F., Poh-Fitzpatrick, M. B., Christiano, A. M.
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<strong>C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.</strong>
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Ann. Hum. Genet. 62: 225-230, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9803266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9803266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9803266" 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/10.1046/j.1469-1809.1998.6230225.x" target="_blank">Full Text</a>]
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Ged, C., Mendez, M., Robert, E., Lalanne, M., Lamrissi-Garcia, I., Costet, P., Daniel, J. Y., Dubus, P., Mazurier, F., Moreau-Gaudry, F., de Verneuil, H.
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<strong>A knock-in mouse model of congenital erythropoietic porphyria.</strong>
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Genomics 87: 84-92, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16314073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16314073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16314073" 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.ygeno.2005.08.018" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Meng2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Meng, X., Liu, J., Shen, Z.
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<strong>Genomic structure of the human BCCIP gene and its expression in cancer.</strong>
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Gene 302: 139-146, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12527204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12527204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12527204" 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/s0378-1119(02)01098-3" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Shady2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shady, A. A., Colby, B. R., Cunha, L. F., Astrin, K. H., Bishop, D. F., Desnick, R. J.
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|
<strong>Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.</strong>
|
|
Brit. J. Haemat. 117: 980-987, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060141" 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/10.1046/j.1365-2141.2002.03558.x" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Solis2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F., Desnick, R. J.
|
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<strong>Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.</strong>
|
|
J. Clin. Invest. 107: 753-762, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11254675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11254675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11254675" 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/JCI10642" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Tanigawa1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tanigawa, K., Takamura, N., Yamashita, S.
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<strong>Congenital erythropoietic porphyria.</strong>
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Nippon Rinsho 53: 1422-1426, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7616657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Tezcan1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tezcan, I., Xu, W., Gurgey, A., Tuncer, M., Cetin, M., Oner, C., Yetgin, S., Ersoy, F., Aizencang, G., Astrin, K. H., Desnick, R. J.
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<strong>Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.</strong>
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Blood 92: 4053-4058, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9834209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9834209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9834209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Tsai1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsai, S.-F., Bishop, D. F., Desnick, R. J.
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<strong>Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.</strong>
|
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Proc. Nat. Acad. Sci. 85: 7049-7053, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174619</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.85.19.7049" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Warner1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warner, C. A., Yoo, H. W., Tsai, S.-F., Roberts, A. G., Desnick, R. J.
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<strong>Congenital erythropoietic porphyria: characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A83 only, 1990.
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<a id="18" class="mim-anchor"></a>
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<a id="Warner1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warner, C. A., Yoo, H.-W., Roberts, A. G., Desnick, R. J.
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<strong>Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.</strong>
|
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J. Clin. Invest. 89: 693-700, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1737856" 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/JCI115637" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Xu1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, W., Astrin, K. H., Desnick, R. J.
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<strong>Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.</strong>
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Hum. Mutat. 7: 187-192, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8829650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8829650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8829650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Xu1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, W., Kozak, C. A., Desnick, R. J.
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<strong>Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.</strong>
|
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Genomics 26: 556-562, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607680" 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/10.1016/0888-7543(95)80175-l" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Xu1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, W., Warner, C. A., Desnick, R. J.
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<strong>Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.</strong>
|
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J. Clin. Invest. 95: 905-912, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7860775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7860775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7860775" 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/JCI117742" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/12/2011
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 6/10/2011<br>Patricia A. Hartz - updated : 3/7/2008<br>Matthew B. Gross - updated : 2/27/2006<br>Patricia A. Hartz - updated : 2/9/2006<br>Victor A. McKusick - updated : 6/11/2003<br>Victor A. McKusick - updated : 9/20/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div 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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Cassandra L. Kniffin : 5/14/2002
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/29/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/21/2015<br>mcolton : 7/1/2015<br>carol : 9/20/2013<br>carol : 8/5/2013<br>carol : 9/20/2011<br>ckniffin : 9/12/2011<br>mgross : 8/29/2011<br>terry : 6/10/2011<br>mgross : 3/7/2008<br>mgross : 2/27/2006<br>terry : 2/9/2006<br>carol : 8/13/2003<br>carol : 7/11/2003<br>tkritzer : 7/9/2003<br>terry : 6/11/2003<br>tkritzer : 9/25/2002<br>tkritzer : 9/23/2002<br>carol : 9/20/2002<br>carol : 5/14/2002<br>ckniffin : 5/14/2002
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</span>
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<span class="mim-font">
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<strong>*</strong> 606938
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<h3>
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<span class="mim-font">
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UROPORPHYRINOGEN III SYNTHASE; UROS
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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UROIIIS
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: UROS</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 190913009, 22935002;
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<strong>ICD10CM:</strong> E80.0;
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</span>
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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: 10q26.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 10:125,784,980-125,823,258 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
10q26.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Porphyria, congenital erythropoietic
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
263700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<br />
|
|
</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<span class="mim-text-font">
|
|
<p>Uroporphyrinogen III synthase is also known as hydroxymethylbilane hydrolyase (cyclizing) (EC 4.2.1.75). It is the fourth enzyme in the 8-enzyme pathway in the conversion of glycine and succinyl-CoA to heme. It is responsible for the conversion of the linear tetrapyrrole, hydroxymethylbilane, to the cyclic tetrapyrrole, uroporphyrinogen III (Tsai et al., 1988). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tsai et al. (1988) cloned a full-length cDNA encoding uroporphyrinogen III synthase by screening a human adult liver cDNA library. The sequence encoded a 265-amino acid protein with a molecular mass of 28,607 Da. By Northern blot, 5-prime RACE, and multiple-tissue array analyses, Aizencang et al. (2000) demonstrated the presence of 2 UROS transcripts: an erythroid-specific transcript and a housekeeping transcript, which was present at low levels in all 76 tissues tested, with highest abundance in skeletal and heart muscle and in the caudate nucleus and amygdala. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Aizencang et al. (2000) determined the structure of the 34-kb UROS gene. It contains alternative erythroid-specific and housekeeping promoters and a coding sequence comprising 9 exons. </p><p>Meng et al. (2003) determined that the 5-prime end of the UROS gene abuts the BCCIP gene (611883) on the opposite strand in a head-to-head manner. BCCIP and UROS share a functional intergenic bidirectional promoter that contains binding sites for various transcription factors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using cloned cDNA, Astrin et al. (1991) mapped the UROS gene to 10q25.2-q26.3. The assignment to chromosome 10 was also found when UROS sequences were specifically amplified by PCR from genomic DNA from independent panels of human-rodent somatic cell hybrids; there was 100% concordance for the presence of the human UROS PCR product and human chromosome 10. </p><p>Xu et al. (1995) cloned the mouse gene and mapped it to chromosome 7 in a region of conserved synteny with human chromosome 10. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Gunther disease (CEP; 263700), Deybach et al. (1990) and Warner et al. (1990) identified a mutation in codon 73 of the uroporphyrinogen III synthase gene (606938.0001). Xu et al. (1995) used a rapid sequencing technique to analyze all 10 exons of the UROS gene from 20 unrelated patients with congenital erythropoietic porphyria. Of the 14 mutations identified, 10 were new. The new mutations included 6 missense mutations, a nonsense mutation, a frameshift mutation, and 2 splicing mutations. </p><p>Xu et al. (1996) stated that 17 mutations in the UROS gene had been reported as the basis of CEP: 11 missense, 1 nonsense, 2 mRNA splicing defects, 1 deletion, and 2 coding region insertions. With the exception of C73R (606938.0001) and L4F (606938.0006) which occurred in 29.6% and 9.3% of the 54 mutant alleles studied, respectively, most mutations had been identified in 1 or a few unrelated families. Analyses had revealed only 83% of the causative mutations. The V82F (606938.0009) mutation, resulting from a G-to-T transversion of the last nucleotide of exon 4, caused both a missense mutation and an aberrantly spliced RNA transcript. Prokaryotic expression of the mutant UROS alleles identified those with significant residual activity, thereby permitting genotype/phenotype predictions in this clinically heterogeneous disorder. </p><p>Shady et al. (2002) identified 8 novel mutations in the UROS gene in cases of CEP. Expression studies in E. coli showed that only 1 of the 4 novel missense mutations identified, glu81 to asp (E81D; 606938.0011), expressed significant enzymatic activity (30% of expressed wildtype activity), which was thermolabile. In addition, RT-PCR studies demonstrated that E81D, which altered the penultimate nucleotide in exon 4, impaired splicing and caused approximately 85% exon 4 skipping. The phenotype in 7 probands studied varied from mild, cutaneous only, to severe, transfusion-dependent. </p><p>In a mutation analysis of 40 unrelated patients with CEP, Desnick et al. (1998) identified both UROS mutant alleles in 29 patients and only 1 of the mutant alleles in 11 patients (11 unidentified mutations in 80 alleles, or 13.8%). Solis et al. (2001) sequenced the erythroid-specific promoter of the UROS gene in 6 patients with a single previously undefined allele and identified 4 novel mutations clustered in a 20-bp region: a -70T-C transition (606938.0013) in a putative GATA1 consensus binding element; a -76G-A transition (606938.0014); a -86C-A transversion (606938.0015) in 3 unrelated patients; and a -90C-A transversion (606938.0016) in a putative CP2 binding motif. They inserted these mutant sequences into luciferase reporter constructs. When transfected into K562 erythroid cells, these constructs yielded greatly reduced reporter activity as compared with the wildtype promoter. Electrophoretic mobility shift assays indicated that the -70T-C transition altered GATA1 binding, whereas the adjacent -76G-A transition did not. Similarly, the -90C-A transversion altered CP2 binding, whereas the -86C-A transversion did not. Thus, these 4 pathogenic erythroid promoter mutations impaired erythroid-specific transcription, caused CEP, and identified functionally important GATA1 and CP2 transcriptional binding elements for erythroid-specific heme biosynthesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ged et al. (2006) stated that knockout of the Uros gene in mice results in nonviable blastocysts. By gene targeting, they developed a knockin model that reproduced the human pro248-to-gln (P248Q; 606938.0020) mutation, which leads to severe UROS deficiency. Heterozygous mice appeared normal, but homozygous mutant mice were hypotrophic at birth and produced red urine and showed erythrodontia in the first weeks of life. Homozygous mutant mice also showed photosensitivity and hepatosplenomegaly, and uroporphyrin (99% type I isomer) accumulated in urine. Total porphyrins were increased in erythrocytes and feces, while Uros enzymatic activity was below 1% of the normal level in tissues analyzed, closely mimicking CEP in humans. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>21 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, CYS73ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908012,
|
|
|
|
|
|
gnomAD: rs121908012,
|
|
|
|
|
|
ClinVar: RCV000003948, RCV000726590, RCV004754240
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Gunther disease (CEP; 263700), Deybach et al. (1990) found heterozygosity for a T-to-C change in codon 73 (cysteine to arginine; C73R) and a C-to-T change in codon 53 (proline to leucine, or P53L; 606938.0002). Warner et al. (1990) likewise demonstrated the C73R mutation. Warner et al. (1992) found this mutation in 8 of 21 unrelated CEP patients (21% of CEP alleles). Boulechfar et al. (1992) concluded that the C73R mutation is the most frequent one found in CEP. </p><p>According to Tanigawa et al. (1995), the C73R mutation accounts for over 40% of all mutant UROS alleles in CEP. Frank et al. (1998) investigated 3 separate families with CEP from different ethnic backgrounds. Haplotype analysis using 2 microsatellite markers that closely flank the UROS gene on 10q24, spanning a region of 4 cM, showed that the C73R mutation occurred on different haplotypes in all 4 disease chromosomes studied. The results were considered consistent with the hypothesis that C73R is a hotspot mutation for CEP, and does not represent wide dispersion of a single ancestral mutant C73R allele. </p><p>Fortian et al. (2011) found that the C73R mutation destabilized the UROIIIS protein via irreversible unfolding and aggregation, followed by proteasomal degradation. At physiologic temperature, wildtype UROIIIS had a half-life of 2.5 days, whereas the C73R mutant protein had a half-life of 15 minutes. Treatment of cells with a proteasome inhibitor restored mutant protein levels, and the restored mutant protein showed 50% of wildtype enzymatic activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, PRO53LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908013,
|
|
|
|
|
|
|
|
ClinVar: RCV000003949
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Gunther disease (CEP; 263700), Deybach et al. (1990) found homozygosity for the pro53-to-leu mutation (P53L) in the UROS gene that was found in another patient in a genetic compound; see 606938.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, ALA66VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28941774,
|
|
|
|
|
|
|
|
ClinVar: RCV000003950
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Warner et al. (1990, 1992) demonstrated a 197C-T transition in the UROS gene, resulting in a substitution of valine for alanine at position 66. The patient was a compound heterozygote for this and the cys73-to-arg mutation (C73R; 606938.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, THR62ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28941775,
|
|
|
|
|
|
gnomAD: rs28941775,
|
|
|
|
|
|
ClinVar: RCV000003951
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Warner et al. (1992) found a 184A-G transition in the UROS gene that predicted a thr62-to-ala (T62A) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, THR228MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908014,
|
|
|
|
|
|
gnomAD: rs121908014,
|
|
|
|
|
|
ClinVar: RCV000003952, RCV001851631, RCV003407267
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Warner et al. (1992) demonstrated a 683C-T transition in the UROS gene that resulted in a thr228-to-met (T228M) substitution. Warner et al. (1992) performed genotype-phenotype correlations: the A66V/C73R, T228M/C73R, and C73R/C73R genotypes were associated with mild, moderately severe, and severe disease, respectively. Boulechfar et al. (1992) also identified this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, LEU4PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908015,
|
|
|
|
|
|
gnomAD: rs121908015,
|
|
|
|
|
|
ClinVar: RCV000003953, RCV001851632, RCV004754241
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Boulechfar et al. (1992) identified a C-to-T transition at nucleotide 10 of the UROS gene, resulting in substitution of phenylalanine for leucine-4 (L4F). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, 98-BP DEL, NT148
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2133941461,
|
|
|
|
|
|
|
|
ClinVar: RCV000003954
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Boulechfar et al. (1992) demonstrated deletion of nucleotides 148-245 in the UROS gene. The deleted segment included the sites of 2 previously described point mutations, pro53-to-leu (P53L; 606938.0002) and cys73-to-arg (C73R; 606938.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, 80-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000003955
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Boulechfar et al. (1992) identified an 80-bp insertion in the UROS gene that created a frameshift at codon 221, leading to a new sequence of 45 amino acids at the C-terminal part of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, VAL82PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908016,
|
|
|
|
|
|
gnomAD: rs121908016,
|
|
|
|
|
|
ClinVar: RCV000003956, RCV003480019
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with congenital erythropoietic porphyria (CEP; 263700), Xu et al. (1995) found a val82-to-phe (V82F) missense mutation in the UROS gene. The mutation occurred adjacent to the 5-prime donor site of intron 4 and resulted in approximately 54% aberrantly spliced transcripts with exon 4 deleted. Thus, this novel exonic single-base substitution caused 2 lesions: an amino acid substitution and an aberrantly spliced transcript. The mutation causing V82F is a G-to-T transversion of the last nucleotide of exon 4. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, GLY188ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908017,
|
|
|
|
|
|
gnomAD: rs121908017,
|
|
|
|
|
|
ClinVar: RCV000003957
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-month-old female with congenital erythropoietic porphyria (CEP; 263700), Tezcan et al. (1998) identified a G-to-A transition at nucleotide 562 in the UROS gene, predicting a gly188-to-arg (G188R) substitution. Both parents were found to be carriers of the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, GLU81ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908018,
|
|
|
|
|
|
|
|
ClinVar: RCV000003958
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Indian patient with mild, cutaneous-only congenital erythropoietic porphyria (CEP; 263700), the offspring of nonconsanguineous parents, Shady et al. (2002) found compound heterozygosity for glu81-to-asp (E81D) and gly188-to-trp (G188W; 606938.0012) mutations in the UROS gene. The E81D mutation resulted from a 243A-T transversion. The G188W mutation resulted from a 562G-T transversion in exon 9, which predicted the substitution of a larger, hydrophobic tryptophan for an uncharged glycine. The same codon is involved in the G188R mutation (606938.0010). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, GLY188TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908017,
|
|
|
|
|
|
gnomAD: rs121908017,
|
|
|
|
|
|
ClinVar: RCV000003959
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly188-to-trp (G188W) mutation in the UROS gene that was found in a patient with mild, cutaneous-only congenital erythropoietic porphyria (CEP; 263700) by Shady et al. (2002), see 606938.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, -70T-C, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554891988,
|
|
|
|
|
|
|
|
ClinVar: RCV000003960
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French male fetus with congenital erythropoietic porphyria (CEP; 263700) and nonimmune hydrops fetalis (CEP; 236750), Solis et al. (2001) identified compound heterozygosity for 2 mutations in the UROS gene: a -70T-C transition in the erythroid promoter and C73R (606938.0001). In addition, they identified heterozygosity for a -224T-C transition, which was present in approximately 4% of 200 unrelated Caucasian alleles. The healthy father was heterozygous for the -70T-C mutation and homozygous for the -224C polymorphism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, -76G-A, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515349,
|
|
|
|
|
|
|
|
ClinVar: RCV000003961, RCV001851633
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 49-year-old American male with mild, cutaneous-only congenital erythropoietic porphyria (CEP; 263700), Solis et al. (2001) identified compound heterozygosity for 2 mutations in the UROS gene: a -76G-A transition in the erythroid promoter and C73R (606938.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, -86C-A, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515350,
|
|
|
|
|
|
|
|
ClinVar: RCV000003962, RCV001851634
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients with mild, cutaneous-only congenital erythropoietic porphyria (263700), Solis et al. (2001) identified compound heterozygosity for 2 mutations in the UROS gene: a -86C-A transversion in the erythroid promoter and a second allele, which was different in each patient. The second allele was a C73R mutation (606938.0001) in a 19-year-old Scandinavian female, a donor splice site at intron 2 (606938.0018) in a 60-year-old Scandinavian female originally studied by Xu et al. (1995), and a 1-bp insertion, 398insG (606938.0019), in a 44-year-old English male. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, -90C-A, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515351,
|
|
|
|
|
|
|
|
ClinVar: RCV000003963
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 33-year-old English male with moderately severe transfusion-dependent congenital erythropoietic porphyria (CEP; 263700), Solis et al. (2001) identified compound heterozygosity for 2 mutations in the UROS gene: a -90C-A transversion in the erythroid promoter and G225S (606938.0017). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, GLY225SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908020,
|
|
|
|
|
|
gnomAD: rs121908020,
|
|
|
|
|
|
ClinVar: RCV000003964, RCV001851635
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly225-to-ser (G225S) mutation in the UROS gene that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; 263700) by Solis et al. (2001), see 606938.0016. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, IVS2DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs373864821,
|
|
|
|
|
|
gnomAD: rs373864821,
|
|
|
|
|
|
ClinVar: RCV000003965, RCV001851636, RCV003407268
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the UROS gene that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; 263700) by Xu et al. (1995) and Solis et al. (2001), see 606938.0015. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, 1-BP INS, 398G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs796051859,
|
|
|
|
|
|
|
|
ClinVar: RCV000003966
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp insertion in the UROS gene (398insG) that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; 263700) by Solis et al. (2001), see 606938.0015. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, PRO248GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908021,
|
|
|
|
|
|
|
|
ClinVar: RCV000003967
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fontanellas et al. (1996) identified a C-to-A transversion at nucleotide 743 in exon 10 of the UROS gene, resulting in a pro248-to-gln (P248Q) substitution, in 3 patients from 2 Spanish families with severe congenital erythropoietic porphyria (CEP; 263700). All 3 patients also carried the cys73-to-arg mutation (C73R; 606938.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 PORPHYRIA, CONGENITAL ERYTHROPOIETIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
UROS, IVS9, T-G, -31
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs750180293,
|
|
|
|
|
|
gnomAD: rs750180293,
|
|
|
|
|
|
ClinVar: RCV000023601
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients with congenital erythropoietic porphyria (CEP; 263700), Bishop et al. (2010) identified a homozygous T-to-G transversion in intron 9 of the UROS gene 31 bp upstream from exon 10 (661-31T-G). The mutation was not found in 100 control alleles. The mutation resulted in the generation of several alternatively spliced longer transcripts containing excess nucleotides from intron 9, including one or more sequences of 81, 165, or 277 bp. The 81-bp insertion was in-frame and resulted in a functional transcript that contributed only about 0.2% residual activity, whereas the other alternative transcripts resulted in premature termination. RT-PCR of patient lymphoblasts showed about 10% normal 1.5-kb transcript with 27% abnormal transcript, and residual UROS activity was about 14%. Two of the patients were men of Ashkenazi descent. One was severely affected from birth with marked photosensitivity, hepatosplenomegaly, and anemia. The other required red cell transfusions, but had significant periods during adolescence without treatment. He had marked cutaneous involvement resulting from unprotected exposure to sunlight. The third patient was a 44-year-old man of Lebanese descent whose parents were consanguineous. He had had chronic, progressive skin ulcerations since adolescence that eventually disfigured his sun-exposed face and hands; he also had anemia. All patients had markedly elevated levels of uroporphyrin I in the urine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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