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Entry
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- *613350 - SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3
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- OMIM
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<p>
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<span class="h4">*613350</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613350">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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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000101276;t=ENST00000645534" 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=113278" 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=613350" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000101276;t=ENST00000645534" 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_001370085,NM_001370086,NM_033409,XM_024451821,XM_047439867,XM_047439868" 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_033409" 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=613350" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=09843&isoform_id=09843_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/SLC52A3" 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/15524116,22760229,33874757,82654931,119631062,119631063,119631064,156564359,158256844,310900609,407032660,1318707521,1318707523,1370480166,1624762674,1624762676,2217334325,2217334327,2462579286,2462579288,2462579290" 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/Q9NQ40" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=113278" 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=ENSG00000101276;t=ENST00000645534" 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=SLC52A3" 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=SLC52A3" 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+113278" 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/SLC52A3" 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:113278" 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/113278" 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=chr20&hgg_gene=ENST00000645534.1&hgg_start=760080&hgg_end=780033&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:16187" 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:16187" 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/slc52a3" 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=613350[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=613350[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/ENSG00000101276" 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=SLC52A3" 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=SLC52A3" 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=SLC52A3" 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=SLC52A3&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/PA25764" 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:16187" 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/FBgn0039882.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:1916948" 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/SLC52A3#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:1916948" 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/113278/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=113278" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021626;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021626 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00044637;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00044637 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060421-4490" 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:113278" 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=SLC52A3&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> 230246005<br />
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<strong>ICD10CM:</strong> G12.1<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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613350
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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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SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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RIBOFLAVIN TRANSPORTER 2; RFT2<br />
|
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RFVT3<br />
|
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CHROMOSOME 20 OPEN READING FRAME 54; C20ORF54
|
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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=SLC52A3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC52A3</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/20/16?start=-3&limit=10&highlight=16">20p13</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:760080-780033&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'})">20:760,080-780,033</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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=211500,211530" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/16?start=-3&limit=10&highlight=16">
|
|
20p13
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Fazio-Londe disease
|
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|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/211500"> 211500 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<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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|
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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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PheneGene Graphics <span class="caret"></span>
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<p>SLC52A3 (RFT2, RFVT3) is a transmembrane protein that mediates cellular uptake of riboflavin. The water-soluble vitamin riboflavin is converted to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and is essential for normal cellular functions (summary by <a href="#8" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>By searching a database for orthologs of rat Rft2, followed by RT-PCR of small intestine total RNA, <a href="#7" class="mim-tip-reference" title="Yamamoto, S., Inoue, K., Ohta, K., Fukatsu, R., Maeda, J., Yoshida, Y., Yuasa, H. <strong>Identification and functional characterization of rat riboflavin transporter 2.</strong> J. Biochem. 145: 437-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122205</a>] [<a href="https://doi.org/10.1093/jb/mvn181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122205">Yamamoto et al. (2009)</a> cloned human RFT2. The deduced 469-amino acid protein shares 83% similarity with rat Rft2, which contains 11 potential membrane-spanning domains and a putative N-glycosylation site. Northern blot analysis of rat tissues showed highest Rft2 expression in jejunum, ileum, and testis, with lower expression in lung, kidney, stomach, and colon. RT-PCR analysis revealed Rft2 expression in all rat tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using real-time PCR, <a href="#8" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al. (2010)</a> detected very high RFT2 expression in testis. High expression was also detected in small intestine and prostate, and much lower expression was detected in most other tissues examined. Fluorescence-tagged RFT2 was expressed in the plasma membrane of transfected HEK293 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 4/9/2010."None>Hartz (2010)</a> mapped the C20ORF54 gene to chromosome 20p13 based on an alignment of the C20ORF54 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC009750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC009750</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#7" class="mim-tip-reference" title="Yamamoto, S., Inoue, K., Ohta, K., Fukatsu, R., Maeda, J., Yoshida, Y., Yuasa, H. <strong>Identification and functional characterization of rat riboflavin transporter 2.</strong> J. Biochem. 145: 437-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122205</a>] [<a href="https://doi.org/10.1093/jb/mvn181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122205">Yamamoto et al. (2009)</a> showed that rat and human RFT2 mediated riboflavin uptake following transfection in human embryonic kidney cells. Biochemical characterization revealed that riboflavin uptake by rat Rft2 was saturable and Na(+) independent, with a pH optimum between 5 and 6. Riboflavin appeared to be the primary molecule transported by Rft2. Riboflavin transport could be competitively inhibited by the riboflavin derivatives lumiflavin, flavin mononucleotide, and flavin adenine dinucleotide, and to a lesser extent by alloxazine and the organic cation amiloride, but not by D-ribose or organic anions. <a href="#7" class="mim-tip-reference" title="Yamamoto, S., Inoue, K., Ohta, K., Fukatsu, R., Maeda, J., Yoshida, Y., Yuasa, H. <strong>Identification and functional characterization of rat riboflavin transporter 2.</strong> J. Biochem. 145: 437-443, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122205</a>] [<a href="https://doi.org/10.1093/jb/mvn181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122205">Yamamoto et al. (2009)</a> concluded that RFT2-mediated riboflavin transport is likely electroneutral facilitated diffusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using transfected HEK293 cells, <a href="#8" class="mim-tip-reference" title="Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K. <strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong> J. Nutr. 140: 1220-1226, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>] [<a href="https://doi.org/10.3945/jn.110.122911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20463145">Yao et al. (2010)</a> showed that RFT1 (<a href="/entry/607883">607883</a>), RFT2, and RFT3 (SLC52A2; <a href="/entry/607882">607882</a>) mediated uptake of radiolabeled riboflavin in a time- and concentration-dependent manner. All 3 transporters also mediated riboflavin uptake independent of extracellular Na+ and Cl-. RFT2, but not RFT1 or RFT3, showed reduced riboflavin uptake when extracellular pH was increased from 5.4 to 8.4. For all 3, radiolabeled riboflavin transport was completely inhibited by excess unlabeled riboflavin and lumiflavine, and modestly inhibited by FMN. FAD slightly but significantly inhibited RFT3-mediated riboflavin uptake. Little to no effect was observed with other riboflavin analogs, D-ribose, organic ions, or other vitamins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Brown-Vialetto-Van Laere Syndrome 1</em></strong></p><p>
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By autozygosity mapping followed by candidate gene analysis of a consanguineous Pakistani family with Brown-Vialetto-Van Laere syndrome-1 (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified a homozygous mutation in the C20ORF54 gene (<a href="#0001">613350.0001</a>). Analysis of other families with the disorder identified 7 additional homozygous or compound heterozygous C20ORF54 mutations (see, e.g., <a href="#0002">613350.0002</a>-<a href="#0006">613350.0006</a>). Five of 9 patients had onset in the first decade of bulbar palsy, muscle weakness, and respiratory insufficiency, and leading to early death. Others had later onset, more usually associated with sensorineural hearing loss. <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> noted that the C20ORF54 gene is thought to play a role in riboflavin transport. Riboflavin is essential for synthesis of the cofactors flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN), which are involved in energy metabolism. It is plausible that the C20ORF54 protein has a maintenance function in the nervous system, and that the disease is precipitated by defect in a pathway tightly regulated by this protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 3 affected members of a consanguineous Turkish family with Brown-Vialetto-Van Laere syndrome, <a href="#6" class="mim-tip-reference" title="Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., Singleton, A. B. <strong>Exome sequencing in Brown-Vialetto-van Laere syndrome. (Letter)</strong> Am. J. Hum. Genet. 87: 567-569, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20920669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20920669</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20920669">Johnson et al. (2010)</a> identified a homozygous mutation in the C20ORF54 gene (P28T; <a href="#0007">613350.0007</a>). The authors used an exome sequencing technique to identify the candidate gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20920669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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="#1" class="mim-tip-reference" title="Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R. <strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong> J. Inherit. Metab. Dis. 34: 159-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>] [<a href="https://doi.org/10.1007/s10545-010-9242-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21110228">Bosch et al. (2011)</a> identified compound heterozygous mutations in the C20ORF54 gene (see <a href="#0009">613350.0009</a>) responsible for Brown-Vialetto-Van Laere syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21110228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Fazio-Londe Disease</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R. <strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong> J. Inherit. Metab. Dis. 34: 159-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>] [<a href="https://doi.org/10.1007/s10545-010-9242-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21110228">Bosch et al. (2011)</a> identified a homozygous mutation in the C20ORF54 gene (<a href="#0008">613350.0008</a>) in 2 sibs from a consanguineous family with Fazio-Londe disease (<a href="/entry/211500">211500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21110228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the C20ORF54 gene and susceptibility to esophageal squamous cell carcinoma and gastric cardia adenocarcinoma, see <a href="/entry/133239">133239</a>.</p>
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<p><a href="#5" class="mim-tip-reference" title="Intoh, A., Suzuki, N., Koszka, K., Eggan, K. <strong>SLC52A3, a Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.</strong> Hum. Molec. Genet. 25: 1814-1823, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26976849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26976849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26976849[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26976849">Intoh et al. (2016)</a> showed that a homozygous Slc52A3 knockout in mouse resulted in embryonic lethality during mid-gestation at about day 10.5, which was apparently due to failure of placental development. <a href="#5" class="mim-tip-reference" title="Intoh, A., Suzuki, N., Koszka, K., Eggan, K. <strong>SLC52A3, a Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.</strong> Hum. Molec. Genet. 25: 1814-1823, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26976849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26976849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26976849[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26976849">Intoh et al. (2016)</a> concluded that Slc52a3 functions during early development. Quantitative RT-PCR detected highest expression of Slc52a3 in adult intestine, testis, and placenta. It was expressed in the intestinal villus, suggesting that SLC52A3 may play a role in the absorption of riboflavin from the diet. The authors suggested the possibility of riboflavin replacement therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26976849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613350[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">rs794728004 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794728004;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=rs794728004" 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=rs794728004" 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=RCV000000162 OR RCV000494398" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000162, RCV000494398" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000162...</a>
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<p>In 2 Arab patients, born in a consanguineous family, with Brown-Vialetto-Van Laere syndrome-1 (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified a homozygous 2-bp deletion (1325delTG) in exon 5 of the C20ORF54 gene, resulting in a frameshift and a mutant protein 35 amino acids longer than the wildtype protein. The mutation was not found in 210 control chromosomes. The patients had onset at age 13 and 6 months, respectively, of hypotonia and bulbar palsy with respiratory compromise. One showed anterior horn involvement and deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs267606683 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606683;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/rs267606683?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=rs267606683" 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=rs267606683" 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 female patient of European ancestry with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified a homozygous 211G-T transversion in exon 2 of the C20ORF54 gene, resulting in a glu71-to-ter (E71X) substitution. The mutation was not found in 210 control chromosomes. She had onset at age 16 months of a progressive bulbar palsy and developed an anterior horn neuropathy, leading to death before age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 BROWN-VIALETTO-VAN LAERE SYNDROME 1</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> rs267606684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606684;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/rs267606684?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=rs267606684" 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=rs267606684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Pakistani sisters, born of consanguineous parents, with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified a homozygous 394C-T transition in exon 2 of the C20ORF54 gene, resulting in an arg132-to-trp (R132W) substitution. The mutation was not found in 210 control chromosomes. Both sisters presented at age 12 years with deafness, 1 also with tongue wasting and fasciculations, and both later developed respiratory insufficiency with stridor and muscle weakness. They both had a slowly progressive course and were alive in their late twenties and thirties, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 BROWN-VIALETTO-VAN LAERE SYNDROME 1</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">rs267606685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606685;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=rs267606685" 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=rs267606685" 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=RCV000000165" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000165" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000165</a>
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<p>In a Pakistani girl with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>) previously reported by <a href="#2" class="mim-tip-reference" title="Dipti, S., Childs, A. M., Livingston, J. H., Aggarwal, A. K., Miller, M, Williams, C., Crow, Y. J. <strong>Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.</strong> Brain Dev. 27: 443-446, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16122634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16122634</a>] [<a href="https://doi.org/10.1016/j.braindev.2004.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16122634">Dipti et al. (2005)</a>, <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified a homozygous 670T-C transition in exon 3 of the C20ORF54 gene, resulting in a phe224-to-leu (F224L) substitution. The mutation was not found in 210 control chromosomes. She presented at age 5 years with tongue fasciculations and facial palsy, and later developed progressive muscle weakness and respiratory compromise followed by death at age 14 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16122634+20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD</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> rs267606686 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606686;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/rs267606686?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=rs267606686" 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=rs267606686" 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=RCV000000166 OR RCV001560824 OR RCV002247227" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000166, RCV001560824, RCV002247227" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000166...</a>
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<p>In a European man with a relatively mild form of Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> identified compound heterozygosity for 2 missense mutations in the C20ORF54 gene: a 106G-A transition in exon 2, resulting in a glu36-to-lys (E36K) substitution, and a 1237T-C transition in exon 5, resulting in a val413-to-ala (V413A; <a href="#0006">613350.0006</a>) substitution. Neither mutation was found in 210 control chromosomes. He developed the condition in his early twenties, presenting with a peripheral neuropathy. He later developed hearing loss, but did not have respiratory compromise. He was still alive at age 57 with progressive weakness, muscle wasting, and truncal ataxia. <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a> noted the mild phenotype in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs267606687 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606687;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/rs267606687?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=rs267606687" 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=rs267606687" 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=RCV000000167 OR RCV000826040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000167, RCV000826040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000167...</a>
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<p>For discussion of the val413-to-ala (V413A) mutation in the SLC52A3 gene that was found in compound heterozygous state in a patient with a mild form of Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>) by <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a>, see <a href="#0005">613350.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs267606688 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606688;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/rs267606688?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=rs267606688" 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=rs267606688" 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=RCV000000168" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000168" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000168</a>
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<p>In 3 affected members of a consanguineous Turkish family with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#6" class="mim-tip-reference" title="Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., Singleton, A. B. <strong>Exome sequencing in Brown-Vialetto-van Laere syndrome. (Letter)</strong> Am. J. Hum. Genet. 87: 567-569, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20920669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20920669</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20920669">Johnson et al. (2010)</a> identified a homozygous 82C-A transversion in the C20ORF54 gene, resulting in a pro28-to-thr (P28T) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20920669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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> rs754753126 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs754753126;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/rs754753126?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=rs754753126" 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=rs754753126" 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=RCV000024020 OR RCV000191970" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024020, RCV000191970" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024020...</a>
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<p>In 2 sibs with Fazio-Londe disease (<a href="/entry/211500">211500</a>) from a consanguineous union, <a href="#1" class="mim-tip-reference" title="Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R. <strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong> J. Inherit. Metab. Dis. 34: 159-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>] [<a href="https://doi.org/10.1007/s10545-010-9242-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21110228">Bosch et al. (2011)</a> identified homozygosity for a splice site mutation, 1198-2A-C, in the C20ORF54 gene. Both parents were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21110228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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 BROWN-VIALETTO-VAN LAERE SYNDROME 1</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">rs797045190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045190;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=rs797045190" 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=rs797045190" 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=RCV000191956" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000191956" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000191956</a>
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<p>In a patient with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#1" class="mim-tip-reference" title="Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R. <strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong> J. Inherit. Metab. Dis. 34: 159-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>] [<a href="https://doi.org/10.1007/s10545-010-9242-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21110228">Bosch et al. (2011)</a> identified compound heterozygosity for mutations in the C20ORF54 gene, a T-to-C transition at nucleotide 49 resulting in a tryptophan-to-arginine substitution at codon 17 (W17R) and a nonsense mutation (Y213X; <a href="#0010">613350.0010</a>). The tryptophan at codon 17 is highly conserved in orthologs of different species. Feeding problems and slow motor development had been present since birth. At age 5 months the patient had generalized muscle weakness and respiratory insufficiency necessitating artificial ventilation due to diaphragmatic paralysis. Severe sensorineural hearing loss was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21110228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 BROWN-VIALETTO-VAN LAERE SYNDROME 1</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> rs778363575 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778363575;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/rs778363575?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=rs778363575" 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=rs778363575" 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=RCV000191963 OR RCV002247619 OR RCV002354538 OR RCV003313053" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000191963, RCV002247619, RCV002354538, RCV003313053" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000191963...</a>
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<p>In a patient with Brown-Vialetto-Van Laere syndrome (BVVLS1; <a href="/entry/211530">211530</a>), <a href="#1" class="mim-tip-reference" title="Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R. <strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong> J. Inherit. Metab. Dis. 34: 159-164, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>] [<a href="https://doi.org/10.1007/s10545-010-9242-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21110228">Bosch et al. (2011)</a> identified compound heterozygosity for a C-to-G transversion at nucleotide 639 of the C20ORF54 gene, resulting in a tyrosine-to-termination substitution at codon 213 (Y213X), and a missense mutation (W17R; <a href="#0009">613350.0009</a>). The nonsense mutation had been identified by <a href="#3" class="mim-tip-reference" title="Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J. <strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong> Am. J. Hum. Genet. 86: 485-489, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20206331">Green et al. (2010)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20206331+21110228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon 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>REFERENCES</strong>
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Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R.
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<strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong>
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J. Inherit. Metab. Dis. 34: 159-164, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21110228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21110228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21110228" 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/s10545-010-9242-z" target="_blank">Full Text</a>]
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Dipti, S., Childs, A. M., Livingston, J. H., Aggarwal, A. K., Miller, M, Williams, C., Crow, Y. J.
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<strong>Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.</strong>
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Brain Dev. 27: 443-446, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16122634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16122634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16122634" 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.braindev.2004.10.003" target="_blank">Full Text</a>]
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Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J.
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<strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong>
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Am. J. Hum. Genet. 86: 485-489, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20206331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20206331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20206331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.02.006" target="_blank">Full Text</a>]
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/9/2010.
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Intoh, A., Suzuki, N., Koszka, K., Eggan, K.
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<strong>SLC52A3, a Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.</strong>
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Hum. Molec. Genet. 25: 1814-1823, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26976849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26976849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26976849[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=26976849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., Singleton, A. B.
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<strong>Exome sequencing in Brown-Vialetto-van Laere syndrome. (Letter)</strong>
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Am. J. Hum. Genet. 87: 567-569, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20920669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20920669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20920669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yamamoto, S., Inoue, K., Ohta, K., Fukatsu, R., Maeda, J., Yoshida, Y., Yuasa, H.
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<strong>Identification and functional characterization of rat riboflavin transporter 2.</strong>
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J. Biochem. 145: 437-443, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K.
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<strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong>
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J. Nutr. 140: 1220-1226, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20463145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20463145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20463145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Alan F. Scott - updated : 12/21/2021
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Patricia A. Hartz - updated : 7/11/2012<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 11/15/2010<br>Cassandra L. Kniffin - updated : 4/15/2010
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Patricia A. Hartz : 4/9/2010
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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 : 12/21/2021
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carol : 04/08/2021<br>carol : 07/22/2020<br>alopez : 05/10/2017<br>carol : 05/09/2017<br>carol : 10/21/2016<br>alopez : 08/11/2015<br>mcolton : 7/31/2015<br>carol : 1/16/2014<br>ckniffin : 1/15/2014<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>terry : 7/11/2012<br>carol : 7/10/2012<br>ckniffin : 7/10/2012<br>carol : 7/3/2012<br>alopez : 1/20/2011<br>alopez : 1/20/2011<br>terry : 1/19/2011<br>carol : 11/17/2010<br>ckniffin : 11/15/2010<br>wwang : 9/23/2010<br>ckniffin : 9/17/2010<br>wwang : 4/16/2010<br>ckniffin : 4/15/2010<br>mgross : 4/9/2010
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<span class="mim-font">
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<strong>*</strong> 613350
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3
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</h3>
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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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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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RIBOFLAVIN TRANSPORTER 2; RFT2<br />
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RFVT3<br />
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CHROMOSOME 20 OPEN READING FRAME 54; C20ORF54
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC52A3</em></strong>
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 230246005;
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<strong>ICD10CM:</strong> G12.1;
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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: 20p13
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:760,080-780,033 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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20p13
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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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?Fazio-Londe disease
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</td>
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<td>
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<span class="mim-font">
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211500
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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Brown-Vialetto-Van Laere syndrome 1
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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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211530
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</table>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>SLC52A3 (RFT2, RFVT3) is a transmembrane protein that mediates cellular uptake of riboflavin. The water-soluble vitamin riboflavin is converted to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and is essential for normal cellular functions (summary by Yao et al., 2010). </p>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching a database for orthologs of rat Rft2, followed by RT-PCR of small intestine total RNA, Yamamoto et al. (2009) cloned human RFT2. The deduced 469-amino acid protein shares 83% similarity with rat Rft2, which contains 11 potential membrane-spanning domains and a putative N-glycosylation site. Northern blot analysis of rat tissues showed highest Rft2 expression in jejunum, ileum, and testis, with lower expression in lung, kidney, stomach, and colon. RT-PCR analysis revealed Rft2 expression in all rat tissues examined. </p><p>Using real-time PCR, Yao et al. (2010) detected very high RFT2 expression in testis. High expression was also detected in small intestine and prostate, and much lower expression was detected in most other tissues examined. Fluorescence-tagged RFT2 was expressed in the plasma membrane of transfected HEK293 cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2010) mapped the C20ORF54 gene to chromosome 20p13 based on an alignment of the C20ORF54 sequence (GenBank BC009750) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yamamoto et al. (2009) showed that rat and human RFT2 mediated riboflavin uptake following transfection in human embryonic kidney cells. Biochemical characterization revealed that riboflavin uptake by rat Rft2 was saturable and Na(+) independent, with a pH optimum between 5 and 6. Riboflavin appeared to be the primary molecule transported by Rft2. Riboflavin transport could be competitively inhibited by the riboflavin derivatives lumiflavin, flavin mononucleotide, and flavin adenine dinucleotide, and to a lesser extent by alloxazine and the organic cation amiloride, but not by D-ribose or organic anions. Yamamoto et al. (2009) concluded that RFT2-mediated riboflavin transport is likely electroneutral facilitated diffusion. </p><p>Using transfected HEK293 cells, Yao et al. (2010) showed that RFT1 (607883), RFT2, and RFT3 (SLC52A2; 607882) mediated uptake of radiolabeled riboflavin in a time- and concentration-dependent manner. All 3 transporters also mediated riboflavin uptake independent of extracellular Na+ and Cl-. RFT2, but not RFT1 or RFT3, showed reduced riboflavin uptake when extracellular pH was increased from 5.4 to 8.4. For all 3, radiolabeled riboflavin transport was completely inhibited by excess unlabeled riboflavin and lumiflavine, and modestly inhibited by FMN. FAD slightly but significantly inhibited RFT3-mediated riboflavin uptake. Little to no effect was observed with other riboflavin analogs, D-ribose, organic ions, or other vitamins. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Brown-Vialetto-Van Laere Syndrome 1</em></strong></p><p>
|
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By autozygosity mapping followed by candidate gene analysis of a consanguineous Pakistani family with Brown-Vialetto-Van Laere syndrome-1 (BVVLS1; 211530), Green et al. (2010) identified a homozygous mutation in the C20ORF54 gene (613350.0001). Analysis of other families with the disorder identified 7 additional homozygous or compound heterozygous C20ORF54 mutations (see, e.g., 613350.0002-613350.0006). Five of 9 patients had onset in the first decade of bulbar palsy, muscle weakness, and respiratory insufficiency, and leading to early death. Others had later onset, more usually associated with sensorineural hearing loss. Green et al. (2010) noted that the C20ORF54 gene is thought to play a role in riboflavin transport. Riboflavin is essential for synthesis of the cofactors flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN), which are involved in energy metabolism. It is plausible that the C20ORF54 protein has a maintenance function in the nervous system, and that the disease is precipitated by defect in a pathway tightly regulated by this protein. </p><p>In 3 affected members of a consanguineous Turkish family with Brown-Vialetto-Van Laere syndrome, Johnson et al. (2010) identified a homozygous mutation in the C20ORF54 gene (P28T; 613350.0007). The authors used an exome sequencing technique to identify the candidate gene. </p><p>Bosch et al. (2011) identified compound heterozygous mutations in the C20ORF54 gene (see 613350.0009) responsible for Brown-Vialetto-Van Laere syndrome. </p><p><strong><em>Fazio-Londe Disease</em></strong></p><p>
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Bosch et al. (2011) identified a homozygous mutation in the C20ORF54 gene (613350.0008) in 2 sibs from a consanguineous family with Fazio-Londe disease (211500). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
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For discussion of a possible association between variation in the C20ORF54 gene and susceptibility to esophageal squamous cell carcinoma and gastric cardia adenocarcinoma, see 133239.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Intoh et al. (2016) showed that a homozygous Slc52A3 knockout in mouse resulted in embryonic lethality during mid-gestation at about day 10.5, which was apparently due to failure of placental development. Intoh et al. (2016) concluded that Slc52a3 functions during early development. Quantitative RT-PCR detected highest expression of Slc52a3 in adult intestine, testis, and placenta. It was expressed in the intestinal villus, suggesting that SLC52A3 may play a role in the absorption of riboflavin from the diet. The authors suggested the possibility of riboflavin replacement therapy. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, 2-BP DEL, 1325TG
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<br />
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SNP: rs794728004,
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ClinVar: RCV000000162, RCV000494398
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Arab patients, born in a consanguineous family, with Brown-Vialetto-Van Laere syndrome-1 (BVVLS1; 211530), Green et al. (2010) identified a homozygous 2-bp deletion (1325delTG) in exon 5 of the C20ORF54 gene, resulting in a frameshift and a mutant protein 35 amino acids longer than the wildtype protein. The mutation was not found in 210 control chromosomes. The patients had onset at age 13 and 6 months, respectively, of hypotonia and bulbar palsy with respiratory compromise. One showed anterior horn involvement and deafness. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, GLU71TER
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<br />
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SNP: rs267606683,
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gnomAD: rs267606683,
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ClinVar: RCV000000163
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female patient of European ancestry with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Green et al. (2010) identified a homozygous 211G-T transversion in exon 2 of the C20ORF54 gene, resulting in a glu71-to-ter (E71X) substitution. The mutation was not found in 210 control chromosomes. She had onset at age 16 months of a progressive bulbar palsy and developed an anterior horn neuropathy, leading to death before age 3 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, ARG132TRP
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<br />
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SNP: rs267606684,
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gnomAD: rs267606684,
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ClinVar: RCV000000164
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Pakistani sisters, born of consanguineous parents, with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Green et al. (2010) identified a homozygous 394C-T transition in exon 2 of the C20ORF54 gene, resulting in an arg132-to-trp (R132W) substitution. The mutation was not found in 210 control chromosomes. Both sisters presented at age 12 years with deafness, 1 also with tongue wasting and fasciculations, and both later developed respiratory insufficiency with stridor and muscle weakness. They both had a slowly progressive course and were alive in their late twenties and thirties, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, PHE224LEU
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<br />
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SNP: rs267606685,
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ClinVar: RCV000000165
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Pakistani girl with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530) previously reported by Dipti et al. (2005), Green et al. (2010) identified a homozygous 670T-C transition in exon 3 of the C20ORF54 gene, resulting in a phe224-to-leu (F224L) substitution. The mutation was not found in 210 control chromosomes. She presented at age 5 years with tongue fasciculations and facial palsy, and later developed progressive muscle weakness and respiratory compromise followed by death at age 14 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, GLU36LYS
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<br />
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SNP: rs267606686,
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gnomAD: rs267606686,
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ClinVar: RCV000000166, RCV001560824, RCV002247227
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a European man with a relatively mild form of Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Green et al. (2010) identified compound heterozygosity for 2 missense mutations in the C20ORF54 gene: a 106G-A transition in exon 2, resulting in a glu36-to-lys (E36K) substitution, and a 1237T-C transition in exon 5, resulting in a val413-to-ala (V413A; 613350.0006) substitution. Neither mutation was found in 210 control chromosomes. He developed the condition in his early twenties, presenting with a peripheral neuropathy. He later developed hearing loss, but did not have respiratory compromise. He was still alive at age 57 with progressive weakness, muscle wasting, and truncal ataxia. Green et al. (2010) noted the mild phenotype in this patient. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, VAL413ALA
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<br />
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SNP: rs267606687,
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gnomAD: rs267606687,
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ClinVar: RCV000000167, RCV000826040
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the val413-to-ala (V413A) mutation in the SLC52A3 gene that was found in compound heterozygous state in a patient with a mild form of Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530) by Green et al. (2010), see 613350.0005. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, PRO28THR
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<br />
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SNP: rs267606688,
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gnomAD: rs267606688,
|
|
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|
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ClinVar: RCV000000168
|
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 affected members of a consanguineous Turkish family with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Johnson et al. (2010) identified a homozygous 82C-A transversion in the C20ORF54 gene, resulting in a pro28-to-thr (P28T) substitution. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 FAZIO-LONDE DISEASE (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SLC52A3, 1198A-C, -2
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<br />
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SNP: rs754753126,
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|
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gnomAD: rs754753126,
|
|
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|
|
|
ClinVar: RCV000024020, RCV000191970
|
|
|
|
|
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</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with Fazio-Londe disease (211500) from a consanguineous union, Bosch et al. (2011) identified homozygosity for a splice site mutation, 1198-2A-C, in the C20ORF54 gene. Both parents were heterozygous. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC52A3, TRP17ARG
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs797045190,
|
|
|
|
|
|
|
|
ClinVar: RCV000191956
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Bosch et al. (2011) identified compound heterozygosity for mutations in the C20ORF54 gene, a T-to-C transition at nucleotide 49 resulting in a tryptophan-to-arginine substitution at codon 17 (W17R) and a nonsense mutation (Y213X; 613350.0010). The tryptophan at codon 17 is highly conserved in orthologs of different species. Feeding problems and slow motor development had been present since birth. At age 5 months the patient had generalized muscle weakness and respiratory insufficiency necessitating artificial ventilation due to diaphragmatic paralysis. Severe sensorineural hearing loss was detected. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 BROWN-VIALETTO-VAN LAERE SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC52A3, TYR213TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs778363575,
|
|
|
|
|
|
gnomAD: rs778363575,
|
|
|
|
|
|
ClinVar: RCV000191963, RCV002247619, RCV002354538, RCV003313053
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Brown-Vialetto-Van Laere syndrome (BVVLS1; 211530), Bosch et al. (2011) identified compound heterozygosity for a C-to-G transversion at nucleotide 639 of the C20ORF54 gene, resulting in a tyrosine-to-termination substitution at codon 213 (Y213X), and a missense mutation (W17R; 613350.0009). The nonsense mutation had been identified by Green et al. (2010). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bosch, A. M., Abeling, N. G. G. M., IJlst, L., Knoester, H., van der Pol., W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M., Waterham, H. R.
|
|
<strong>Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.</strong>
|
|
J. Inherit. Metab. Dis. 34: 159-164, 2011.
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|
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|
|
[PubMed: 21110228]
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[Full Text: https://doi.org/10.1007/s10545-010-9242-z]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Dipti, S., Childs, A. M., Livingston, J. H., Aggarwal, A. K., Miller, M, Williams, C., Crow, Y. J.
|
|
<strong>Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.</strong>
|
|
Brain Dev. 27: 443-446, 2005.
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|
|
[PubMed: 16122634]
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[Full Text: https://doi.org/10.1016/j.braindev.2004.10.003]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Green, P., Wiseman, M., Crow, Y. J., Houlden, H., Riphagen, S., Lin, J.-P., Raymond, F. L., Childs, A.-M., Sheridan, E., Edwards, S., Josifova, D. J.
|
|
<strong>Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in C20ORF54.</strong>
|
|
Am. J. Hum. Genet. 86: 485-489, 2010.
|
|
|
|
|
|
[PubMed: 20206331]
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|
[Full Text: https://doi.org/10.1016/j.ajhg.2010.02.006]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 4/9/2010.
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Intoh, A., Suzuki, N., Koszka, K., Eggan, K.
|
|
<strong>SLC52A3, a Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.</strong>
|
|
Hum. Molec. Genet. 25: 1814-1823, 2016.
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|
|
|
|
|
[PubMed: 26976849]
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[Full Text: https://doi.org/10.1093/hmg/ddw053]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Johnson, J. O., Gibbs, J. R., Van Maldergem, L., Houlden, H., Singleton, A. B.
|
|
<strong>Exome sequencing in Brown-Vialetto-van Laere syndrome. (Letter)</strong>
|
|
Am. J. Hum. Genet. 87: 567-569, 2010.
|
|
|
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|
|
[PubMed: 20920669]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.05.021]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Yamamoto, S., Inoue, K., Ohta, K., Fukatsu, R., Maeda, J., Yoshida, Y., Yuasa, H.
|
|
<strong>Identification and functional characterization of rat riboflavin transporter 2.</strong>
|
|
J. Biochem. 145: 437-443, 2009.
|
|
|
|
|
|
[PubMed: 19122205]
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[Full Text: https://doi.org/10.1093/jb/mvn181]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Yao, Y., Yonezawa, A., Yoshimatsu, H., Masuda, S., Katsura, T., Inui, K.
|
|
<strong>Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.</strong>
|
|
J. Nutr. 140: 1220-1226, 2010.
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|
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|
|
[PubMed: 20463145]
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[Full Text: https://doi.org/10.3945/jn.110.122911]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott - updated : 12/21/2021<br>Patricia A. Hartz - updated : 7/11/2012<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 11/15/2010<br>Cassandra L. Kniffin - updated : 4/15/2010
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</span>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/9/2010
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/21/2021<br>carol : 04/08/2021<br>carol : 07/22/2020<br>alopez : 05/10/2017<br>carol : 05/09/2017<br>carol : 10/21/2016<br>alopez : 08/11/2015<br>mcolton : 7/31/2015<br>carol : 1/16/2014<br>ckniffin : 1/15/2014<br>alopez : 8/21/2012<br>terry : 7/11/2012<br>terry : 7/11/2012<br>carol : 7/10/2012<br>ckniffin : 7/10/2012<br>carol : 7/3/2012<br>alopez : 1/20/2011<br>alopez : 1/20/2011<br>terry : 1/19/2011<br>carol : 11/17/2010<br>ckniffin : 11/15/2010<br>wwang : 9/23/2010<br>ckniffin : 9/17/2010<br>wwang : 4/16/2010<br>ckniffin : 4/15/2010<br>mgross : 4/9/2010
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