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<title>
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Entry
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- *611908 - RFT1 HOMOLOG; RFT1
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<p />
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<p>
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<span class="h4">*611908</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611908">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</li>
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</ul>
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</nav>
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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=ENSG00000163933;t=ENST00000296292" 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=91869" 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=611908" 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=ENSG00000163933;t=ENST00000296292" 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_052859,XM_005265537,XM_006713384,XM_011534214,XM_011534215,XM_011534216,XR_007095765" 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_052859" 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=611908" 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=15239&isoform_id=15239_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/RFT1" 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/13905118,15558858,16418361,21758938,28175796,74731102,119585680,119585681,119585682,530373297,578806701,767924531,767924533,767924538,1248341919,2462593644,2462593647,2462593649,2462593651,2462593653" 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/Q96AA3" 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=91869" 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=ENSG00000163933;t=ENST00000296292" 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=RFT1" 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=RFT1" 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+91869" 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/RFT1" 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:91869" 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/91869" 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=chr3&hgg_gene=ENST00000607283.5&hgg_start=53066853&hgg_end=53130435&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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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/genes/HGNC:30220" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611908[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=611908[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RFT1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000163933" 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=RFT1" 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=RFT1" 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=RFT1" 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=RFT1&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/PA134960002" 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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:30220" 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/FBgn0027564.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:3607791" 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/RFT1#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:3607791" 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/91869/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=91869" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00022677;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110411-126" 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">
|
|
<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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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://reactome.org/content/query?q=RFT1&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>
|
|
<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>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
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<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<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> 733084000<br />
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">ICD+</a>
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</div>
|
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<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
611908
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
RFT1 HOMOLOG; RFT1
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
RFT1, S. CEREVISIAE, HOMOLOG OF
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
|
|
</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RFT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RFT1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/393?start=-3&limit=10&highlight=393">3p21.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:53066853-53130435&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'})">3:53,066,853-53,130,435</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/393?start=-3&limit=10&highlight=393">
|
|
3p21.1
|
|
</a>
|
|
</span>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>N-glycosylation of proteins follows a highly conserved pathway that begins with the synthesis of a Man(5)GlcNAc(2)-dolichylpyrophosphate (PP-Dol) intermediate on the cytoplasmic side of the endoplasmic reticulum (ER) membrane followed by the translocation of Man(5)GlcNAc (2)-PP-Dol to the luminal side of the ER membrane. RFT1 is the flippase enzyme that catalyzes this translocation (<a href="#3" class="mim-tip-reference" title="Helenius, J., Ng, D. T. W., Marolda, C. L., Walter, P., Valvano, M. A., Aebi, M. <strong>Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.</strong> Nature 415: 447-450, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807558</a>] [<a href="https://doi.org/10.1038/415447a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807558">Helenius et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807558" 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 database searching with the sequence of S. cerevisiae Rft1 as query, followed by RT-PCR of human fibroblast total RNA, <a href="#1" class="mim-tip-reference" title="Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T. <strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong> Am. J. Hum. Genet. 82: 600-606, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313027">Haeuptle et al. (2008)</a> cloned RFT1. The deduced 541-amino acid protein contains 11 transmembrane domains and has a potential N-glycosylation site in a hydrophilic loop within the ER lumen. RFT1 shares 22% sequence identity with the yeast protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313027" 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="#3" class="mim-tip-reference" title="Helenius, J., Ng, D. T. W., Marolda, C. L., Walter, P., Valvano, M. A., Aebi, M. <strong>Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.</strong> Nature 415: 447-450, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807558</a>] [<a href="https://doi.org/10.1038/415447a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807558">Helenius et al. (2002)</a> showed that the expression of yeast Rft1 complemented a defect in N-glycosylation in the delta-alg11 (<a href="/entry/613666">613666</a>) strain of yeast. Overexpression of Rft1 in delta-alg11 yeast suggested that Rft1 is the limiting component for the flipping of Man(5)GlcNAc(2)-PP-Dol from the cytoplasmic to luminal side of the ER membrane in vivo and that no additional factors are required. Rft1 depletion in yeast led to underglycosylation of the vacuolar N-linked glycoprotein carboxypeptidase Y. <a href="#1" class="mim-tip-reference" title="Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T. <strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong> Am. J. Hum. Genet. 82: 600-606, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313027">Haeuptle et al. (2008)</a> found human RFT1 complemented Rft1-depletion in yeast and restored normal carboxypeptidase Y glycosylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18313027+11807558" 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="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 3/19/2008."None>Hartz (2008)</a> mapped the RFT1 gene to chromosome 3p21.1 based on an alignment of the RFT1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AJ318099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AJ318099</a>) with the genomic sequence (build 36.1).</p>
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<p>A particular feature of N-glycans is that they are first assembled in the endoplasmic reticulum (ER) as lipid-linked oligosaccharides (LLO). This assembly proceeds through the sequential addition of monosaccharides to the growing LLO. The assembly of LLOs requires glycosyltransferases and their respective nucleotide- and dolicho-activated monosaccharide substrates, but it also requires several proteins that regulate the complex topology of the process. For example, in yeast the Rft1 protein is essential for translocation of the cytosolically oriented intermediate DolPP-GlcNAc(2)Man(5) into the ER lumen, where LLO assembly is completed. The identification of N-linked glycosylation disorders in humans, referred to as congenital disorders of glycosylation (see CDG1A, <a href="/entry/212065">212065</a>), demonstrated the conservation of the LLO assembly pathway between yeast and humans. <a href="#1" class="mim-tip-reference" title="Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T. <strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong> Am. J. Hum. Genet. 82: 600-606, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313027">Haeuptle et al. (2008)</a> identified a novel glycosylation defect in a theretofore untyped CDG case (CDG1N; <a href="/entry/612015">612015</a>), thereby establishing the importance of the RFT1 protein in human N-linked glycosylation. The patient, who had been diagnosed with a disorder of N-linked glycosylation on the basis of detection of abnormal isoelectric focusing of serum transferrin, carried a homozygous point mutation in the RFT1 gene (R67C; <a href="#0001">611908.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313027" 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 unrelated children with CDG1N, <a href="#6" class="mim-tip-reference" title="Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T. <strong>RFT1 deficiency in three novel CDG patients.</strong> Hum. Mutat. 30: 1428-1434, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701946[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/10.1002/humu.21085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701946">Vleugels et al. (2009)</a> identified 3 different homozygous missense mutations in the RFT1 gene (<a href="#0001">611908.0001</a>-<a href="#0003">611908.0003</a>). All mutations were located in 1 of the hydrophilic loops predicted to be within the ER lumen. Patient fibroblasts showed accumulation of Man(5)GlcNAc(2)-PP-dolichol and decreased DNase I secretion compared to controls, and these defects were restored by expression of wildtype RFT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19701946" 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 2 unrelated children with CDG1N, <a href="#4" class="mim-tip-reference" title="Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C. <strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong> J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19856127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19856127</a>] [<a href="https://doi.org/10.1007/s10545-009-1297-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19856127">Jaeken et al. (2009)</a> identified biallelic mutations in the RFT1 gene (<a href="#0002">611908.0002</a>; <a href="#0004">611908.0004</a>-<a href="#0005">611908.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19856127" 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 2 sibs, born of unrelated Czech parents, with CDG1N, <a href="#5" class="mim-tip-reference" title="Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T. <strong>RFT1-CDG in adult siblings with novel mutations.</strong> Molec. Genet. Metab. 107: 760-762, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111317">Ondruskova et al. (2012)</a> identified compound heterozygous missense mutations in the RFT1 gene (M408V, <a href="#0006">611908.0006</a> and R442Q, <a href="#0007">611908.0007</a>). Functional studies were not performed, but both mutations occurred in the transmembrane domain, unlike previous RFT1 mutations that occurred in the luminal loops. The phenotype in the Czech sibs was somewhat milder compared to other patients, which <a href="#5" class="mim-tip-reference" title="Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T. <strong>RFT1-CDG in adult siblings with novel mutations.</strong> Molec. Genet. Metab. 107: 760-762, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111317">Ondruskova et al. (2012)</a> postulated may be due to the location of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111317" 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>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs118203913 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203913;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/rs118203913?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=rs118203913" 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=rs118203913" 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=RCV000000821 OR RCV001551396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000821, RCV001551396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000821...</a>
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<p>In a patient with a congenital disorder of glycosylation (CDG1N; <a href="/entry/612015">612015</a>), <a href="#1" class="mim-tip-reference" title="Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T. <strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong> Am. J. Hum. Genet. 82: 600-606, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313027">Haeuptle et al. (2008)</a> identified a homozygous C-to-T transition at nucleotide 199 of the RFT1 gene, resulting in a substitution of cysteine for arginine at codon 67 (R67C). The R67C substitution occurred in a 50-amino-acid hydrophilic stretch in the overall hydrophobic RFT1 protein. Despite the low sequence identity (22%) between yeast and human RFT1 protein, <a href="#1" class="mim-tip-reference" title="Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T. <strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong> Am. J. Hum. Genet. 82: 600-606, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.12.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313027">Haeuptle et al. (2008)</a> demonstrated both their functional orthology and the pathologic effect of the human R67C mutation by complementation assay in Rft1-deficient yeast cells. The causality of the RFT1 R67C mutation was further established by restoration of normal glycosylation profiles in patient-derived fibroblasts after lentiviral expression of the normal RFT1 cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313027" 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="#6" class="mim-tip-reference" title="Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T. <strong>RFT1 deficiency in three novel CDG patients.</strong> Hum. Mutat. 30: 1428-1434, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701946[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/10.1002/humu.21085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701946">Vleugels et al. (2009)</a> identified a homozygous R67C mutation (c.199C-T, NM_052859.2) in a female child of Scottish descent (patient 1) with CDG1N. The patient was severely affected, with dysmorphic features, seizures, severe mental retardation, and virtually no development; she died at age 8 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19701946" 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>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs763862849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763862849;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/rs763862849?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=rs763862849" 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=rs763862849" 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=RCV000190246 OR RCV001818462" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190246, RCV001818462" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190246...</a>
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<p>In a 5.5-year-old boy (patient 2), born of consanguineous Italian parents, with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>), <a href="#6" class="mim-tip-reference" title="Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T. <strong>RFT1 deficiency in three novel CDG patients.</strong> Hum. Mutat. 30: 1428-1434, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701946[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/10.1002/humu.21085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701946">Vleugels et al. (2009)</a> identified a homozygous c.454A-G transition (c.454A-G, NM_052859.2) in the RFT1 gene, resulting in a lys152-to-glu (K152E) substitution at a conserved residue in the second luminally oriented hydrophilic stretch of the protein. The mutation segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19701946" 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="#4" class="mim-tip-reference" title="Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C. <strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong> J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19856127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19856127</a>] [<a href="https://doi.org/10.1007/s10545-009-1297-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19856127">Jaeken et al. (2009)</a> identified a homozygous K152E mutation in a boy of Moroccan descent (patient 1) with CDG1N. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19856127" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs796053521 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796053521;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/rs796053521?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=rs796053521" 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=rs796053521" 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=RCV000190247" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190247" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190247</a>
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<p>In a 2.2-year-old boy (patient 3), born of consanguineous Algerian parents, with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>), <a href="#6" class="mim-tip-reference" title="Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T. <strong>RFT1 deficiency in three novel CDG patients.</strong> Hum. Mutat. 30: 1428-1434, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701946[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/10.1002/humu.21085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701946">Vleugels et al. (2009)</a> identified a homozygous c.892G-A transition in the RFT1 gene (c.892G-A, NM_052859.2), resulting in a glu298-to-lys (E298K) substitution at a conserved residue in the largest luminal loop. No tissue from the parents or sibs was available for segregation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19701946" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs772820136 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs772820136;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/rs772820136?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=rs772820136" 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=rs772820136" 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=RCV000190248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190248</a>
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<p>In an Italian girl (patient 2) with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>), <a href="#4" class="mim-tip-reference" title="Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C. <strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong> J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19856127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19856127</a>] [<a href="https://doi.org/10.1007/s10545-009-1297-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19856127">Jaeken et al. (2009)</a> identified compound heterozygous mutations in the RFT1 gene: a c.887T-A transversion, resulting in an ile296-to-lys (I296K) substitution, and a c.887T-G transversion, resulting in an ile296-to-arg (I296R; <a href="#0005">611908.0005</a>) substitution. Both mutations affected the same highly conserved residue in the luminal loop of the protein. Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19856127" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs772820136 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs772820136;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/rs772820136?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=rs772820136" 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=rs772820136" 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=RCV000190249" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190249" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190249</a>
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<p>For discussion of the ile296-to-arg (I296R) mutation in the RFT1 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>) by <a href="#4" class="mim-tip-reference" title="Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C. <strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong> J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19856127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19856127</a>] [<a href="https://doi.org/10.1007/s10545-009-1297-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19856127">Jaeken et al. (2009)</a>, see <a href="#0004">611908.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19856127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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">rs796053522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796053522;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=rs796053522" 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=rs796053522" 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 sibs, born of unrelated Czech parents, with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>), <a href="#5" class="mim-tip-reference" title="Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T. <strong>RFT1-CDG in adult siblings with novel mutations.</strong> Molec. Genet. Metab. 107: 760-762, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111317">Ondruskova et al. (2012)</a> identified compound heterozygous mutations in exon 12 of the RFT1 gene: a c.1222A-G transition, resulting in a met408-to-val (M408V) substitution, and a c.1325G-A transition, resulting in an arg442-to-gln (R442Q; <a href="#0007">611908.0007</a>) substitution. Each unaffected parent was heterozygous for 1 of the mutations, neither of which were found in 200 controls. Functional studies were not performed, but both mutations occurred in the transmembrane domain, unlike previous RFT1 mutations that occurred in the luminal loops. The phenotype in the Czech sibs was somewhat milder compared to other patients, which <a href="#5" class="mim-tip-reference" title="Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T. <strong>RFT1-CDG in adult siblings with novel mutations.</strong> Molec. Genet. Metab. 107: 760-762, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111317">Ondruskova et al. (2012)</a> postulated may be due to the location of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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> rs749968109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs749968109;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/rs749968109?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=rs749968109" 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=rs749968109" 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=RCV000190251" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190251" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190251</a>
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<p>For discussion of the arg442-to-gln (R442Q) mutation in the RFT1 gene that was found in compound heterozygous state in 2 sibs with congenital disorder of glycosylation type In (CDG1N; <a href="/entry/612015">612015</a>) by <a href="#5" class="mim-tip-reference" title="Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T. <strong>RFT1-CDG in adult siblings with novel mutations.</strong> Molec. Genet. Metab. 107: 760-762, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>] [<a href="https://doi.org/10.1016/j.ymgme.2012.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23111317">Ondruskova et al. (2012)</a>, see <a href="#0006">611908.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111317" 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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<a id="Haeuptle2008" class="mim-anchor"></a>
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Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T.
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<strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong>
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Am. J. Hum. Genet. 82: 600-606, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313027[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=18313027" 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.2007.12.021" 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. 3/19/2008.
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Helenius, J., Ng, D. T. W., Marolda, C. L., Walter, P., Valvano, M. A., Aebi, M.
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<strong>Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.</strong>
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Nature 415: 447-450, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/415447a" target="_blank">Full Text</a>]
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Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C.
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<strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong>
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J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19856127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19856127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19856127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T.
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<strong>RFT1-CDG in adult siblings with novel mutations.</strong>
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Molec. Genet. Metab. 107: 760-762, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23111317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23111317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23111317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T.
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<strong>RFT1 deficiency in three novel CDG patients.</strong>
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Hum. Mutat. 30: 1428-1434, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701946[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=19701946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21085" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/6/2015
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/14/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 3/19/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/20/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/07/2015<br>mcolton : 8/7/2015<br>ckniffin : 8/6/2015<br>mgross : 12/14/2010<br>alopez : 4/29/2008<br>alopez : 4/28/2008<br>terry : 4/14/2008<br>carol : 3/19/2008
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611908
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RFT1 HOMOLOG; RFT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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RFT1, S. CEREVISIAE, HOMOLOG OF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RFT1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 733084000;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3p21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:53,066,853-53,130,435 </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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3p21.1
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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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Congenital disorder of glycosylation, type In
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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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612015
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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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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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>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>N-glycosylation of proteins follows a highly conserved pathway that begins with the synthesis of a Man(5)GlcNAc(2)-dolichylpyrophosphate (PP-Dol) intermediate on the cytoplasmic side of the endoplasmic reticulum (ER) membrane followed by the translocation of Man(5)GlcNAc (2)-PP-Dol to the luminal side of the ER membrane. RFT1 is the flippase enzyme that catalyzes this translocation (Helenius et al., 2002). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By database searching with the sequence of S. cerevisiae Rft1 as query, followed by RT-PCR of human fibroblast total RNA, Haeuptle et al. (2008) cloned RFT1. The deduced 541-amino acid protein contains 11 transmembrane domains and has a potential N-glycosylation site in a hydrophilic loop within the ER lumen. RFT1 shares 22% sequence identity with the yeast protein. </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>Helenius et al. (2002) showed that the expression of yeast Rft1 complemented a defect in N-glycosylation in the delta-alg11 (613666) strain of yeast. Overexpression of Rft1 in delta-alg11 yeast suggested that Rft1 is the limiting component for the flipping of Man(5)GlcNAc(2)-PP-Dol from the cytoplasmic to luminal side of the ER membrane in vivo and that no additional factors are required. Rft1 depletion in yeast led to underglycosylation of the vacuolar N-linked glycoprotein carboxypeptidase Y. Haeuptle et al. (2008) found human RFT1 complemented Rft1-depletion in yeast and restored normal carboxypeptidase Y glycosylation. </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">
|
|
<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">
|
|
<p>Hartz (2008) mapped the RFT1 gene to chromosome 3p21.1 based on an alignment of the RFT1 sequence (GenBank AJ318099) with the genomic sequence (build 36.1).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A particular feature of N-glycans is that they are first assembled in the endoplasmic reticulum (ER) as lipid-linked oligosaccharides (LLO). This assembly proceeds through the sequential addition of monosaccharides to the growing LLO. The assembly of LLOs requires glycosyltransferases and their respective nucleotide- and dolicho-activated monosaccharide substrates, but it also requires several proteins that regulate the complex topology of the process. For example, in yeast the Rft1 protein is essential for translocation of the cytosolically oriented intermediate DolPP-GlcNAc(2)Man(5) into the ER lumen, where LLO assembly is completed. The identification of N-linked glycosylation disorders in humans, referred to as congenital disorders of glycosylation (see CDG1A, 212065), demonstrated the conservation of the LLO assembly pathway between yeast and humans. Haeuptle et al. (2008) identified a novel glycosylation defect in a theretofore untyped CDG case (CDG1N; 612015), thereby establishing the importance of the RFT1 protein in human N-linked glycosylation. The patient, who had been diagnosed with a disorder of N-linked glycosylation on the basis of detection of abnormal isoelectric focusing of serum transferrin, carried a homozygous point mutation in the RFT1 gene (R67C; 611908.0001). </p><p>In 3 unrelated children with CDG1N, Vleugels et al. (2009) identified 3 different homozygous missense mutations in the RFT1 gene (611908.0001-611908.0003). All mutations were located in 1 of the hydrophilic loops predicted to be within the ER lumen. Patient fibroblasts showed accumulation of Man(5)GlcNAc(2)-PP-dolichol and decreased DNase I secretion compared to controls, and these defects were restored by expression of wildtype RFT1. </p><p>In 2 unrelated children with CDG1N, Jaeken et al. (2009) identified biallelic mutations in the RFT1 gene (611908.0002; 611908.0004-611908.0005). </p><p>In 2 sibs, born of unrelated Czech parents, with CDG1N, Ondruskova et al. (2012) identified compound heterozygous missense mutations in the RFT1 gene (M408V, 611908.0006 and R442Q, 611908.0007). Functional studies were not performed, but both mutations occurred in the transmembrane domain, unlike previous RFT1 mutations that occurred in the luminal loops. The phenotype in the Czech sibs was somewhat milder compared to other patients, which Ondruskova et al. (2012) postulated may be due to the location of the mutation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
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</div>
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|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RFT1, ARG67CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118203913,
|
|
|
|
|
|
gnomAD: rs118203913,
|
|
|
|
|
|
ClinVar: RCV000000821, RCV001551396
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a congenital disorder of glycosylation (CDG1N; 612015), Haeuptle et al. (2008) identified a homozygous C-to-T transition at nucleotide 199 of the RFT1 gene, resulting in a substitution of cysteine for arginine at codon 67 (R67C). The R67C substitution occurred in a 50-amino-acid hydrophilic stretch in the overall hydrophobic RFT1 protein. Despite the low sequence identity (22%) between yeast and human RFT1 protein, Haeuptle et al. (2008) demonstrated both their functional orthology and the pathologic effect of the human R67C mutation by complementation assay in Rft1-deficient yeast cells. The causality of the RFT1 R67C mutation was further established by restoration of normal glycosylation profiles in patient-derived fibroblasts after lentiviral expression of the normal RFT1 cDNA. </p><p>Vleugels et al. (2009) identified a homozygous R67C mutation (c.199C-T, NM_052859.2) in a female child of Scottish descent (patient 1) with CDG1N. The patient was severely affected, with dysmorphic features, seizures, severe mental retardation, and virtually no development; she died at age 8 months. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
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|
|
RFT1, LYS152GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs763862849,
|
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|
|
|
gnomAD: rs763862849,
|
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|
|
|
ClinVar: RCV000190246, RCV001818462
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5.5-year-old boy (patient 2), born of consanguineous Italian parents, with congenital disorder of glycosylation type In (CDG1N; 612015), Vleugels et al. (2009) identified a homozygous c.454A-G transition (c.454A-G, NM_052859.2) in the RFT1 gene, resulting in a lys152-to-glu (K152E) substitution at a conserved residue in the second luminally oriented hydrophilic stretch of the protein. The mutation segregated with the disorder in the family. </p><p>Jaeken et al. (2009) identified a homozygous K152E mutation in a boy of Moroccan descent (patient 1) with CDG1N. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
|
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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RFT1, GLU298LYS
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<br />
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|
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SNP: rs796053521,
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gnomAD: rs796053521,
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ClinVar: RCV000190247
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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 a 2.2-year-old boy (patient 3), born of consanguineous Algerian parents, with congenital disorder of glycosylation type In (CDG1N; 612015), Vleugels et al. (2009) identified a homozygous c.892G-A transition in the RFT1 gene (c.892G-A, NM_052859.2), resulting in a glu298-to-lys (E298K) substitution at a conserved residue in the largest luminal loop. No tissue from the parents or sibs was available for segregation analysis. </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>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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RFT1, ILE296LYS
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<br />
|
|
|
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SNP: rs772820136,
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gnomAD: rs772820136,
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ClinVar: RCV000190248
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian girl (patient 2) with congenital disorder of glycosylation type In (CDG1N; 612015), Jaeken et al. (2009) identified compound heterozygous mutations in the RFT1 gene: a c.887T-A transversion, resulting in an ile296-to-lys (I296K) substitution, and a c.887T-G transversion, resulting in an ile296-to-arg (I296R; 611908.0005) substitution. Both mutations affected the same highly conserved residue in the luminal loop of the protein. Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants were not performed. </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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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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RFT1, ILE296ARG
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<br />
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SNP: rs772820136,
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gnomAD: rs772820136,
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ClinVar: RCV000190249
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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 ile296-to-arg (I296R) mutation in the RFT1 gene that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type In (CDG1N; 612015) by Jaeken et al. (2009), see 611908.0004. </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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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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RFT1, MET408VAL
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<br />
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SNP: rs796053522,
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ClinVar: RCV000190250
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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 sibs, born of unrelated Czech parents, with congenital disorder of glycosylation type In (CDG1N; 612015), Ondruskova et al. (2012) identified compound heterozygous mutations in exon 12 of the RFT1 gene: a c.1222A-G transition, resulting in a met408-to-val (M408V) substitution, and a c.1325G-A transition, resulting in an arg442-to-gln (R442Q; 611908.0007) substitution. Each unaffected parent was heterozygous for 1 of the mutations, neither of which were found in 200 controls. Functional studies were not performed, but both mutations occurred in the transmembrane domain, unlike previous RFT1 mutations that occurred in the luminal loops. The phenotype in the Czech sibs was somewhat milder compared to other patients, which Ondruskova et al. (2012) postulated may be due to the location of the mutation. </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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In</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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RFT1, ARG442GLN
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<br />
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SNP: rs749968109,
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gnomAD: rs749968109,
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ClinVar: RCV000190251
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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 arg442-to-gln (R442Q) mutation in the RFT1 gene that was found in compound heterozygous state in 2 sibs with congenital disorder of glycosylation type In (CDG1N; 612015) by Ondruskova et al. (2012), see 611908.0006. </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>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Haeuptle, M. A., Pujol, F. M., Neupert, C., Winchester, B., Kastaniotis, A. J., Aebi, M., Hennet, T.
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<strong>Human RFT1 deficiency leads to a disorder of N-linked glycosylation.</strong>
|
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Am. J. Hum. Genet. 82: 600-606, 2008.
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[PubMed: 18313027]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.12.021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/19/2008.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Helenius, J., Ng, D. T. W., Marolda, C. L., Walter, P., Valvano, M. A., Aebi, M.
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<strong>Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.</strong>
|
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Nature 415: 447-450, 2002.
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[PubMed: 11807558]
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[Full Text: https://doi.org/10.1038/415447a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jaeken, J., Vleugels, W., Regal, L., Corchia, C., Goemans, N., Haeuptle, M. A., Foulquier, F., Hennet, T., Matthijs, G., Dionisi-Vici, C.
|
|
<strong>RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.</strong>
|
|
J. Inherit. Metab. Dis. 32 (suppl. 1): S335-S338, 2009.
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[PubMed: 19856127]
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[Full Text: https://doi.org/10.1007/s10545-009-1297-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ondruskova, N., Vesela, K., Hansikova, H., Magner, M., Zeman, J., Honzik, T.
|
|
<strong>RFT1-CDG in adult siblings with novel mutations.</strong>
|
|
Molec. Genet. Metab. 107: 760-762, 2012.
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[PubMed: 23111317]
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[Full Text: https://doi.org/10.1016/j.ymgme.2012.10.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Vleugels, W., Haeuptle, M. A., Ng, B. G., Michalski, J.-C., Battini, R., Dionisi-Vici, C., Ludman, M. D., Jaeken, J., Foulquier, F., Freeze, H. H., Matthijs, G., Hennet, T.
|
|
<strong>RFT1 deficiency in three novel CDG patients.</strong>
|
|
Hum. Mutat. 30: 1428-1434, 2009.
|
|
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|
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[PubMed: 19701946]
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[Full Text: https://doi.org/10.1002/humu.21085]
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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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Cassandra L. Kniffin - updated : 8/6/2015<br>Victor A. McKusick - updated : 4/14/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 3/19/2008
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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Edit History:
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<span class="mim-text-font">
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carol : 08/20/2019<br>alopez : 08/07/2015<br>mcolton : 8/7/2015<br>ckniffin : 8/6/2015<br>mgross : 12/14/2010<br>alopez : 4/29/2008<br>alopez : 4/28/2008<br>terry : 4/14/2008<br>carol : 3/19/2008
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