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Entry
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- *614620 - INTRAFLAGELLAR TRANSPORT 140; IFT140
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*614620</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614620">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000187535;t=ENST00000426508" 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=9742" 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=614620" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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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<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=ENSG00000187535;t=ENST00000426508" 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_014714,XM_005255725,XM_005255726,XM_006720990,XM_006720991,XM_006720992,XM_011522767,XM_011522769,XM_011522771,XM_011522772,XM_047434965,XM_047434966,XM_047434967,XM_047434968,XM_047434969,XM_047434970,XM_047434971,XM_047434972,XM_047434973,XM_047434974,XM_047434975,XM_047434976,XM_047434977,XM_047434978,XM_047434979,XM_047434980" 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_014714" 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=614620" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/IFT140" 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/5262477,14336756,14336759,23243457,41281447,74761083,119606048,119606049,119606050,193786192,194386600,194386720,530409470,530409472,578828378,578828380,578828383,767987907,767987911,767987914,767987916,929654035,2217308395,2217308397,2217308400,2217308402,2217308404,2217308406,2217308408,2217308411,2217308414,2217308417,2217308419,2217308422,2217308425,2217308427,2217308429,2217308431,2462551969,2462551971,2462551973,2462551975,2462551977,2462551979,2462551981,2462551983,2462551985,2462551987,2462551989,2462551991,2462551993,2462551995,2462551997,2462551999,2462552001,2462552003,2462552005,2462552007,2462552009,2462552011,2462552013,2462552015,2462552017" 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/Q96RY7" 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 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=9742" 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=ENSG00000187535;t=ENST00000426508" 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=IFT140" 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=IFT140" 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+9742" 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/IFT140" 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:9742" 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/9742" 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=chr16&hgg_gene=ENST00000426508.7&hgg_start=1510427&hgg_end=1612072&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29077" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29077" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ift140" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614620[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=614620[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/IFT140/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/ENSG00000187535" 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=IFT140" 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=IFT140" 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=IFT140" 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=IFT140&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/PA142671665" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:29077" 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/FBgn0260933.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:2146906" 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/IFT140#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:2146906" 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/9742/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=9742" 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=WBGene00000490;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-040724-165" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=IFT140&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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614620
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 140; IFT140
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF<br />
|
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KIAA0590
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IFT140" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IFT140</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/16/67?start=-3&limit=10&highlight=67">16p13.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:1510427-1612072&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'})">16:1,510,427-1,612,072</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=617781,266920" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
</th>
|
|
<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/67?start=-3&limit=10&highlight=67">
|
|
16p13.3
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 80
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617781"> 617781 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 9 with or without polydactyly
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/266920"> 266920 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
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<p>The IFT140 gene encodes a subunit of intraflagellar transport complex A (IFTA), which is involved in retrograde ciliary transport (summary by <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" 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 sequencing clones obtained from a size-fractionated adult brain cDNA library, <a href="#8" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> cloned IFT140, which they called KIAA0590. The deduced protein contains 1,462 amino acids. It had an apparent molecular mass of more than 100 kD by SDS-PAGE. RT-PCR detected high expression in kidney, moderate expression in ovary, testis, prostate, and lung, and low expression in thymus, brain, heart, placenta, and skeletal muscle. Little to no expression was present in liver, pancreas, spleen, and small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an Ift140 lacZ-reporter mouse, <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a> observed more prominent expression of Ift140 in renal and retinal tissue of mouse embryos than in the skeleton, although immunofluorescence demonstrated clear localization of Ift140 to the ciliary axoneme in murine ATDC5 chondrocyte precursor cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" 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="#7" class="mim-tip-reference" title="Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G. <strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong> PLoS Genet. 9: e1003746, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009529[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/10.1371/journal.pgen.1003746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009529">Miller et al. (2013)</a> reported that mouse Ift140 has 5 WD40 domains near the N terminus and 9 tetratricopeptide (TRP) repeats in the C-terminal half. Immunohistochemical analysis of embryonic mouse limb bud epithelium revealed localization of Ift140 to both the base and tip of primary cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By transient expression of IFT140 in hTERT-RPE1 cells, <a href="#5" class="mim-tip-reference" title="Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T. <strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong> Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>] [<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26968735">Hull et al. (2016)</a> observed localization of IFT140 to the basal body. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using radiation hybrid analysis, <a href="#8" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the IFT140 gene to chromosome 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 5/3/2012."None>Gross (2012)</a> mapped the IFT140 gene to chromosome 16p13.3 based on an alignment of the IFT140 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC035577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC035577</a>) with the genomic sequence (GRCh37).</p><p><a href="#7" class="mim-tip-reference" title="Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G. <strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong> PLoS Genet. 9: e1003746, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009529[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/10.1371/journal.pgen.1003746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009529">Miller et al. (2013)</a> reported that the mouse Ift140 gene maps to chromosome 17 between markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3667809;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3667809</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3684506;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3684506</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Short-Rib Thoracic Dysplasia 9 with or without Polydactyly</em></strong></p><p>
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In 10 patients from 6 unrelated families with short-rib thoracic dysplasia-9 (SRTD9; <a href="/entry/266920">266920</a>) who had a clinical diagnosis of Mainzer-Saldino syndrome, <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified homozygous or compound heterozygous mutations in the IFT140 gene (see, e.g., <a href="#0001">614620.0001</a>-<a href="#0006">614620.0006</a>). Mutations in the first patient were identified by ciliome sequencing and confirmed by Sanger sequencing. In addition, compound heterozygosity for mutations in IFT40 (<a href="#0002">614620.0002</a>; <a href="#0005">614620.0005</a>) was identified in a patient with a clinical diagnosis of Jeune syndrome, or ATD. Heterozygous mutations in the IFT140 gene were found in 4 additional index patients with the disorder; a second pathogenic mutation was not detected in these patients. Clinical features of patients with biallelic mutations did not differ significantly from those with heterozygous mutations or from those with no mutation detected in the IFT40 gene. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the missense mutant IFT140 proteins had partial to complete loss of basal body localization and an increase of cytoplasmic staining. Fibroblasts from 2 unrelated patients showed absent cilia in a high proportion of cells compared to controls, indicating a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. The findings indicated that IFT140 has a pivotal role in proper development and function of ciliated cells, and confirmed that Mainzer-Saldino syndrome is a skeletal ciliopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using whole-exome sequencing, sequencing of a ciliopathy gene panel, and Sanger sequencing in a study of 64 probands clinically diagnosed with ATD and 2 with Mainzer, <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a> identified biallelic causative mutations in the IFT140 gene in 6 patients, including both MZSDS patients (see, e.g., <a href="#0002">614620.0002</a> and <a href="#0008">614620.0008</a>-<a href="#0010">614620.0010</a>). The patients presented with renal disease in early childhood and showed notable retinal involvement, but had a nonlethal thorax-related clinical course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, who also exhibited brachydactyly and ectodermal features and received a clinical diagnosis of Sensenbrenner syndrome, <a href="#1" class="mim-tip-reference" title="Bayat, A., Kerr, B., Douzgou, S., DDD Study. <strong>The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.</strong> Clin. Dysmorph. 26: 247-251, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28288023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28288023</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28288023">Bayat et al. (2017)</a> identified compound heterozygosity for a missense (G212R; <a href="#0005">614620.0005</a>) and a nonsense (R760X; <a href="#0016">614620.0016</a>) mutation in the IFT140 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28288023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old boy who exhibited features consistent with MZSDS, <a href="#4" class="mim-tip-reference" title="Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Schrier Vergano, S., Katsanis, N., Davis, E. E. <strong>Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.</strong> Hum. Genomics 11: 16, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28724397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28724397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28724397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s40246-017-0111-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28724397">Helm et al. (2017)</a> identified homozygosity for the G212R substitution in the IFT140 gene, which was inherited from his mother through chromosome 16 maternal heteroisodisomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28724397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
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In 7 unrelated patients with nonsyndromic retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>), <a href="#11" class="mim-tip-reference" title="Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R. <strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong> Hum. Genet. 134: 1069-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26216056">Xu et al. (2015)</a> identified compound heterozygous mutations in the ITF40 gene (see, e.g., <a href="#0011">614620.0011</a>-<a href="#0014">614620.0014</a>). None of the patients exhibited any nonocular manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26216056" 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 11 affected individuals from 5 unrelated families with nonsyndromic retinitis pigmentosa, <a href="#5" class="mim-tip-reference" title="Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T. <strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong> Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>] [<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26968735">Hull et al. (2016)</a> identified homozygosity or compound heterozygosity for mutations in the IFT140 gene (see, e.g., <a href="#0002">614620.0002</a>, <a href="#0013">614620.0013</a>, and <a href="#0015">614620.0015</a>). The authors noted that the retinal dystrophy in these patients was milder than that associated with the syndromic disease (SRTD9). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" 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 10 Saudi probands with congenital severe retinopathy, <a href="#2" class="mim-tip-reference" title="Bifari, I. N., Elkhamary, S. M., Bolz, H. J., Khan, A. O. <strong>The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.</strong> Brit. J. Ophthal. 100: 829-833, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26359340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26359340</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2015-307555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26359340">Bifari et al. (2016)</a> identified homozygosity for a missense mutation in the IFT140 gene (E664K; <a href="#0001">614620.0001</a>). Seven of the patients also exhibited developmental delay, and 5 had cone-shaped epiphyses on hand x-rays. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26359340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using N-ethyl-N-nitrosourea to induce embryonic lethal mutations in mice, <a href="#7" class="mim-tip-reference" title="Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G. <strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong> PLoS Genet. 9: e1003746, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009529[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/10.1371/journal.pgen.1003746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009529">Miller et al. (2013)</a> created the 'cauli' phenotype. Cauli homozygotes died at midgestation with global and catastrophic developmental defects, including exencephaly, spina bifida, massive craniofacial dysmorphism, digit anomalies, cardiovascular anomalies, and somite patterning defects. Linkage analysis followed by direct sequencing identified a T-to-A transversion in exon 19 of the Ift140 gene that was predicted to alter binding sites for splicing factors Srsf5 (<a href="/entry/600914">600914</a>) and Srsf6 (<a href="/entry/601944">601944</a>) in the Ift140 pre-mRNA, and to cause an ile855-to-lys (I855K) substitution in the protein. The I855 residue resides within a coiled-coil domain of Ift140 immediately upstream of the first TRP. Real-time PCR and Western blot analysis of Ift140 cauli/cauli embryos showed an approximately 30% decrease in Ift140 mRNA and a 70% decrease in Ift140 protein. Scanning electron microscopic examination of limb buds of Ift140 cauli/cauli embryos at embryonic day 10.5 revealed epithelial cells with indistinct borders and reduced number of cilia. Cilia also showed severely disrupted morphology, including bulbous appearance, consistent with accumulation of cargo at the tip due to a defect in retrograde transport. Molecular analysis of Ift140 cauli/cauli limb buds revealed altered spatial patterning and regulation of multiple growth factors, predominantly those in the cilia-dependent hedgehog (see <a href="/entry/600725">600725</a>) signaling pathways. <a href="#7" class="mim-tip-reference" title="Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G. <strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong> PLoS Genet. 9: e1003746, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009529[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/10.1371/journal.pgen.1003746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009529">Miller et al. (2013)</a> found that Ift140 -/- mice showed an identical phenotype to Ift140 cauli/cauli mice. The authors concluded that the cauli phenotype results from loss of Ift140 rather than altered function following amino acid substitution, and that cauli represents a ciliopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907192 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907192;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/rs387907192?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=rs387907192" 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=rs387907192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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In a 17-year-old boy with short-rib thoracic dysplasia-9 (SRTD9; <a href="/entry/266920">266920</a>) with a clinical diagnosis of Mainzer-Saldino syndrome, who exhibited a small thoracic cavity with short and thick ribs and had early-onset retinal dystrophy and chronic renal failure, <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified compound heterozygosity for 2 mutations in the IFT140 gene: a 1990G-A transition, resulting in a glu664-to-lys (E664K) substitution at a highly conserved residue, and a G-to-T transversion in intron 19 (2399+1G-T; <a href="#0002">614620.0002</a>), predicted to result in the skipping of exon 18. The mutations were detected by ciliome sequencing of the patient's DNA and confirmed by Sanger sequencing; they were not found in 200 control chromosomes. Five affected individuals from 2 additional consanguineous Saudi Arabian families with a clinical diagnosis of Mainzer-Saldino syndrome were found to be homozygous for the E664K mutation. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining, indicating severe disorganization. Patient fibroblasts showed absent cilia in a high proportion of cells compared to controls, consistent with a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. All patients had onset of retinal dystrophy in infancy with visual loss and nystagmus, and all exhibited skeletal anomalies, including short stature in most, phalangeal cone-shaped epiphyses, and metaphyseal defects in the hips (in 3). In contrast to the compound heterozygous patient, none of the Saudi Arabian patients had overt renal disease and their thorax phenotype was reported to be unremarkable. Four of the 5 Saudi Arabian patients had mild intellectual disability or autistic features with seizures, which may have been due to other factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
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In 10 Saudi probands with congenital severe retinopathy (RP80; <a href="/entry/617781">617781</a>), including 2 boys previously reported by <a href="#6" class="mim-tip-reference" title="Khan, A. O., Bolz, H. J., Bergmann, C. <strong>Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.</strong> J. AAPOS 18: 203-205, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24698627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24698627</a>] [<a href="https://doi.org/10.1016/j.jaapos.2013.11.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24698627">Khan et al. (2014)</a>, <a href="#2" class="mim-tip-reference" title="Bifari, I. N., Elkhamary, S. M., Bolz, H. J., Khan, A. O. <strong>The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.</strong> Brit. J. Ophthal. 100: 829-833, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26359340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26359340</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2015-307555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26359340">Bifari et al. (2016)</a> identified homozygosity for the E664K substitution (c.1990G-A, NM_014714.3) in the IFT140 gene. Some patients exhibited additional features, including developmental delay in 7 of the patients, and cone-shaped phalangeal epiphyses in the 5 who underwent hand x-rays. Noting that all but 1 of the families they studied harbored the E664K mutation, the authors suggested that this represented a founder effect or a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24698627+26359340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs376586707 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376586707;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/rs376586707?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=rs376586707" 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=rs376586707" 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=RCV000024360 OR RCV000515584 OR RCV001075306 OR RCV001536095 OR RCV001818178 OR RCV003924859 OR RCV003993751 OR RCV004760343 OR RCV004786282" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024360, RCV000515584, RCV001075306, RCV001536095, RCV001818178, RCV003924859, RCV003993751, RCV004760343, RCV004786282" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024360...</a>
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<p><strong><em>Short-Rib Thoracic Dysplasia 9</em></strong></p><p>
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In an 18-month-old boy with short-rib thoracic dysplasia-9 (SRTD9; <a href="/entry/266920">266920</a>), who had a clinical diagnosis of Jeune syndrome, <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified compound heterozygosity for a c.2399+1G-T transversion in intron 19 of the IFT140 gene, and a missense mutation (G212R; <a href="#0005">614620.0005</a>). The patient was hypotonic with poor feeding at birth and exhibited developmental delay, short thorax with short ribs, trident-shaped spurs on long bones, cone-shaped epiphyses of the phalanges, and increased echogenicity of the kidneys with nonspecific tubulointerstitial nephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For discussion of the c.2399+1G-T mutation that <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified in compound heterozygous state in a 17-year-old boy with SRTD9, who had a clinical diagnosis of Mainzer-Saldino syndrome, see <a href="#0001">614620.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 39-year-old Austrian woman with a clinical diagnosis of Mainzer-Saldino syndrome, who had a small thorax, brachymesophalangism, and cone-shaped epiphyses, with childhood onset of retinal pigmentary dystrophy and small cystic kidneys resulting in end-stage renal disease by 12 years of age, <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a> identified compound heterozygosity for the c.2399+1G-T splice site mutation in the IFT140 gene and a c.4078T-C transition resulting in a cys1360-to-arg (C1360R; <a href="#0007">614620.0007</a>) substitution at a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
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In a 67-year-old Caucasian British man (patient 2) with retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>), who also had hearing loss but was negative for mutation in 9 Usher syndrome (see <a href="/entry/276900">276900</a>)-associated genes, <a href="#5" class="mim-tip-reference" title="Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T. <strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong> Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>] [<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26968735">Hull et al. (2016)</a> identified compound heterozygosity for the c.2399+1G-T splice site mutation (c.2399+1G-T, NM_014714.3) and a c.2815T-C transition in the IFT140 gene, resulting in a ser939-to-pro (S939P; <a href="#0015">614620.0015</a>) substitution. The proband's younger sister, who had RP without hearing loss, was also compound heterozygous for the IFT140 variants, whereas his unaffected son carried only one of the mutations. Both patients exhibited normal development without skeletal manifestations or renal failure. Transient transfection in hTERT-RPE1 cells followed by immunostaining demonstrated significantly reduced basal body localization with the S939P mutant compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907193;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=rs387907193" 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=rs387907193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 18-year-old boy with short-rib thoracid dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>), who had a clinical diagnosis of Mainzer-Saldino syndrome, <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified compound heterozygosity for 2 mutations in the IFT140 gene: a c.932A-G transition resulting in a tyr311-to-cys (Y311C) substitution that was predicted to be deleterious, and a 4-bp deletion (857_860del; <a href="#0004">614620.0004</a>), resulting in a frameshift and premature termination (Ile286LysfsTer6). Neither mutation was found in 200 control chromosomes. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the Y311C mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining. Fibroblasts of 1 patient showed absent cilia in a high proportion of cells compared to controls, indicating a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. The patient had onset at birth of retinal dystrophy with visual loss, and nystagmus, phalangeal cone-shaped epiphyses in the feet, chronic renal failure, and cholestasis. Psychomotor development was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs431905506 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905506;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=rs431905506" 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=rs431905506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 4-bp deletion (c.856_860del) in the IFT140 gene that was found in compound heterozygous state by <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>), who had a clinical diagnosis of Mainzer-Saldino syndrome, see <a href="#0003">614620.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201188361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201188361;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/rs201188361?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=rs201188361" 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=rs201188361" 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=RCV000024363 OR RCV000255441 OR RCV000515934 OR RCV000626465 OR RCV001249674 OR RCV001328311 OR RCV004752723" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024363, RCV000255441, RCV000515934, RCV000626465, RCV001249674, RCV001328311, RCV004752723" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024363...</a>
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<p>In 2 affected members of a family with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>), who had a clinical diagnosis of Mainzer-Saldino syndrome, <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> identified compound heterozygosity for 2 mutations in the IFT140 gene: a c.634G-A transition resulting in a gly212-to-arg (G212R) substitution, and a 1-bp duplication (c.3916dup; <a href="#0006">614620.0006</a>), resulting in a frameshift and premature termination (Ala1306GlyfsTer56). Neither mutation was found in 200 control chromosomes and both were predicted to be deleterious. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the G212R mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining. The patients had early-onset retinitis pigmentosa with poor visual acuity, chronic renal failure leading to end-stage renal disease, and cholestasis. The kidneys were hyperechogenic with loss of corticomedullary differentiation. Both also had skeletal anomalies, including short stature, craniosynostosis, and phalangeal cone-shaped epiphyses. Psychomotor development was normal at ages 4 and 10 years, respectively. <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a> also identified compound heterozygosity for the G212R mutation and a splice site mutation in the IFT140 gene (<a href="#0002">614620.0002</a>) in an 18-month-old boy with a clinical diagnosis of Jeune syndrome, who exhibited short thorax with short ribs and trident-shaped spurs on long bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, who also exhibited brachydactyly and ectodermal features and received a clinical diagnosis of Sensenbrenner syndrome (see <a href="/entry/218330">218330</a>), <a href="#1" class="mim-tip-reference" title="Bayat, A., Kerr, B., Douzgou, S., DDD Study. <strong>The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.</strong> Clin. Dysmorph. 26: 247-251, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28288023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28288023</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28288023">Bayat et al. (2017)</a> identified compound heterozygosity for the G212R mutation and a c.2278C-T transition in the IFT140 gene, resulting in an arg760-to-ter (R760X; <a href="#0016">614620.0016</a>) substitution. His unaffected parents were each heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28288023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old boy with features of Mainzer-Saldino syndrome, who exhibited retinal dystrophy, acute-onset renal failure, and skeletal anomalies including bilateral coxa vara, broad femoral necks with mild bowing of the femoral diaphyses, and brachydactyly with shortened metacarpals and cone-shaped phalangeal epiphyses, <a href="#4" class="mim-tip-reference" title="Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Schrier Vergano, S., Katsanis, N., Davis, E. E. <strong>Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.</strong> Hum. Genomics 11: 16, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28724397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28724397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28724397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s40246-017-0111-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28724397">Helm et al. (2017)</a> identified homozygosity for the c.634G-A transition (c.634G-A, NM_014714.3) at the exon 6 donor splice site of the IFT140 gene, resulting in the G212R substitution at a conserved residue within the WD40 domain. His unaffected mother was heterozygous for the variant, but his father did not carry the mutation. Analysis of exome data indicated that the proband had chromosome 16 maternal heteroisodisomy, with segmental isodisomy at 16p13, suggesting that an early error in meiosis occurred in the maternal gamete. <a href="#4" class="mim-tip-reference" title="Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Schrier Vergano, S., Katsanis, N., Davis, E. E. <strong>Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.</strong> Hum. Genomics 11: 16, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28724397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28724397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28724397[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s40246-017-0111-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28724397">Helm et al. (2017)</a> identified 2 different-sized PCR products from patient cells, the smaller of which was missing exon 6, resulting in frameshift and premature termination at residue 171. Functional analysis in ift140-morphant zebrafish demonstrated some improvement of gastrulation defects with the G212R mutant, but rescue was not as significant as that with wildtype IFT140, suggesting that G212R represents a partial loss-of-function variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28724397" 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>For discussion of the 1-bp duplication at nucleotide 3916 (c.3916dup) in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 (SRTD9; <a href="/entry/266920">266920</a>) by <a href="#9" class="mim-tip-reference" title="Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. <strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong> Am. J. Hum. Genet. 90: 864-870, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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.2012.03.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22503633">Perrault et al. (2012)</a>, see <a href="#0005">614620.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22503633" 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>For discussion of the cys1360-to-arg (C1360R) mutation in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>) by <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a>, see <a href="#0002">614620.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated Serbian patients with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>), who had a clinical diagnosis of Jeune asphyxiating thoracic dystrophy, <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a> identified compound heterozygosity for a c.874C-T transition in the IFT140 gene, resulting in a val292-to-met (V292M) substitution at a conserved residue, and another mutation in IFT140. In 2 patients, the second mutation was a c.1565G-A transition, resulting in a gly522-to-glu (G522E; <a href="#0009">614620.0009</a>) substitution at a highly conserved residue. In the third patient, the second mutation was a 1-bp deletion (c.1380delC; <a href="#0010">614620.0010</a>), causing a frameshift predicted to result in a premature termination codon (Asn460LysfsTer28). The mutations segregated with disease in each family and were not found in 110 Serbian control chromosomes. Functional analysis in transfected RPE1 cells revealed impaired localization of mutant IFT40 to the centrosome. All 3 patients had a small thorax, brachymesophalangism, cone-shaped epiphyses, retinal dystrophy, and increased renal echogenicity with onset of end-stage renal disease by 7 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" 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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IFT140, GLY522GLU
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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> rs199826737 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199826737;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/rs199826737?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=rs199826737" 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=rs199826737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000083298 OR RCV000626462 OR RCV001075445 OR RCV001268554 OR RCV001542691 OR RCV002509205 OR RCV003398688 OR RCV005016364" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000083298, RCV000626462, RCV001075445, RCV001268554, RCV001542691, RCV002509205, RCV003398688, RCV005016364" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000083298...</a>
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<p>For discussion of the gly522-to-glu (G522E) mutation in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>) by <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a>, see <a href="#0008">614620.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0010 SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY</strong>
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</h4>
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IFT140, 1-BP DEL, 1380C
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs431905522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905522;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/rs431905522?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=rs431905522" 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=rs431905522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000083299 OR RCV001854453 OR RCV002498438 OR RCV004786361" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000083299, RCV001854453, RCV002498438, RCV004786361" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000083299...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.1380delC) in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; <a href="/entry/266920">266920</a>) by <a href="#10" class="mim-tip-reference" title="Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others. <strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong> Hum. Mutat. 34: 714-724, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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.22294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418020">Schmidts et al. (2013)</a>, see <a href="#0008">614620.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<br />
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<div>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 RETINITIS PIGMENTOSA 80</strong>
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</h4>
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<div style="float: left;">
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IFT140, LEU1399PRO
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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> rs559371453 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs559371453;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/rs559371453?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=rs559371453" 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=rs559371453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000515594 OR RCV005010467" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515594, RCV005010467" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515594...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 43-year-old Han Chinese man (patient SRF71) with retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>), <a href="#11" class="mim-tip-reference" title="Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R. <strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong> Hum. Genet. 134: 1069-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26216056">Xu et al. (2015)</a> identified compound heterozygosity for mutations in the IFT140 gene: a c.4196T-C transition (c.4196T-C, NM_014714.3), resulting in a leu1399-to-pro (L1399P) substitution at a highly conserved residue within the TPR9 domain, and a 4-bp deletion (c.1898_1901delATAA; <a href="#0012">614620.0012</a>), causing a frameshift predicted to result in a premature termination codon (Asn633SerfsTer10). His unaffected parents were each heterozygous for 1 of the mutations, and his unaffected sister did not carry either mutation. The 4-bp deletion was not found in the ExAC database, whereas the L1399P variant was present once, in the East Asian population (allele frequency, 1 in 5,762). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26216056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 RETINITIS PIGMENTOSA 80</strong>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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IFT140, 4-BP DEL, 1898ATAA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555487977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555487977;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=rs1555487977" 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=rs1555487977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000515559" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515559" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515559</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 4-bp deletion (c.1898_1901delATAA, NM_014714.3) in the IFT140 gene, causing a frameshift predicted to result in a premature termination codon (Asn633SerfsTer10), that was found in compound heterozygous state in a Han Chinese man with retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>) by <a href="#11" class="mim-tip-reference" title="Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R. <strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong> Hum. Genet. 134: 1069-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26216056">Xu et al. (2015)</a>, see <a href="#0011">614620.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26216056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0013" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0013 RETINITIS PIGMENTOSA 80</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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IFT140, THR484MET
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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> rs758052634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs758052634;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/rs758052634?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=rs758052634" 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=rs758052634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000515606 OR RCV001073305 OR RCV001857877 OR RCV002282196 OR RCV002490876 OR RCV003326447" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515606, RCV001073305, RCV001857877, RCV002282196, RCV002490876, RCV003326447" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515606...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 9-year-old Han Chinese boy (patient SRF117) who was noted to have retinal dystrophy in infancy (RP80; <a href="/entry/617781">617781</a>), <a href="#11" class="mim-tip-reference" title="Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R. <strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong> Hum. Genet. 134: 1069-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26216056">Xu et al. (2015)</a> identified compound heterozygosity for mutations in the IFT140 gene: a c.1451C-T transition (c.1451C-T, NM_014714.3), resulting in a thr484-to-met (T484M) substitution, and a c.985T-C transition, resulting in a cys329-to-arg (C329R; <a href="#0014">614620.0014</a>) substitution at a highly conserved residue. (The c.1451C-T substitution was referred to as c.1452C-T in Figure 2.) His unaffected parents were each heterozygous for 1 of the mutations. The C329R mutation was not found in the ExAC database, whereas the T484M substitution was present at low frequency (allele frequency, 5 in 120,980 overall, and 2 in 8,640 in the East Asian population). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26216056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected sibs and their affected first cousin once removed from a large consanguineous Pakistani family (family 1) with nonsyndromic RP, <a href="#5" class="mim-tip-reference" title="Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T. <strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong> Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>] [<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26968735">Hull et al. (2016)</a> identified homozygosity for the T484M mutation (c.1451C-T, NM_014714.3) in the ITF140 gene, which segregated with disease in the family. Transient transfection in hTERT-RPE1 cells followed by immunostaining demonstrated significantly reduced basal body localization with the T484M mutant compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" 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>For discussion of the c.985T-C transition (c.985T-C, NM_014714.3) in the IFT140 gene, resulting in a cys329-to-arg (C329R) substitution, that was found in compound heterozygous state in a Han Chinese boy with retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>) by <a href="#11" class="mim-tip-reference" title="Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R. <strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong> Hum. Genet. 134: 1069-1078, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26216056">Xu et al. (2015)</a>, see <a href="#0013">614620.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26216056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs145549969 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs145549969;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=rs145549969" 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=rs145549969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.2815T-C transition (c.2815T-C, NM_014714.3) in the IFT140 gene, resulting in a ser939-to-pro (S939P) substitution, that was found in compound heterozygous state in a Caucasian British brother and sister with retinitis pigmentosa (RP80; <a href="/entry/617781">617781</a>) by <a href="#5" class="mim-tip-reference" title="Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T. <strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong> Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>] [<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26968735">Hull et al. (2016)</a>, see <a href="#0002">614620.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555486629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555486629;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=rs1555486629" 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=rs1555486629" 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=RCV000515580 OR RCV005010468" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515580, RCV005010468" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515580...</a>
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<p>For discussion of the c.2278C-T transition in the IFT140 gene, resulting in an arg760-to-ter (R760X) substitution, that was found by <a href="#1" class="mim-tip-reference" title="Bayat, A., Kerr, B., Douzgou, S., DDD Study. <strong>The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.</strong> Clin. Dysmorph. 26: 247-251, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28288023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28288023</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28288023">Bayat et al. (2017)</a> in compound heterozygous state in a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, as well as brachydactyly and ectodermal features (SRTD9; <a href="/entry/266920">266920</a>), see <a href="#0005">614620.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28288023" 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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Bayat, A., Kerr, B., Douzgou, S., DDD Study.
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<strong>The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.</strong>
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Clin. Dysmorph. 26: 247-251, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28288023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28288023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28288023" 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/10.1097/MCD.0000000000000169" target="_blank">Full Text</a>]
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<strong>The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.</strong>
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Brit. J. Ophthal. 100: 829-833, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26359340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26359340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26359340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Schrier Vergano, S., Katsanis, N., Davis, E. E.
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<strong>Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.</strong>
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Hum. Genomics 11: 16, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28724397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28724397</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28724397[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=28724397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T.
|
|
<strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong>
|
|
Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26968735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26968735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26968735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1167/iovs.15-17976" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
|
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<a id="Khan2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khan, A. O., Bolz, H. J., Bergmann, C.
|
|
<strong>Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.</strong>
|
|
J. AAPOS 18: 203-205, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24698627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24698627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24698627" 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.jaapos.2013.11.016" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Miller2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G.
|
|
<strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong>
|
|
PLoS Genet. 9: e1003746, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009529[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=24009529" 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/10.1371/journal.pgen.1003746" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
|
|
<a id="Nagase1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
|
DNA Res. 5: 31-39, 1998.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Perrault2012" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others.
|
|
<strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong>
|
|
Am. J. Hum. Genet. 90: 864-870, 2012.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22503633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22503633</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22503633[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=22503633" 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.2012.03.006" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Schmidts2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others.
|
|
<strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong>
|
|
Hum. Mutat. 34: 714-724, 2013.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418020[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=23418020" 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.22294" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Xu2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R.
|
|
<strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong>
|
|
Hum. Genet. 134: 1069-1078, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26216056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26216056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26216056[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=26216056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-015-1586-x" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 11/22/2017
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 2/16/2015<br>Marla J. F. O'Neill - updated : 2/11/2014<br>Cassandra L. Kniffin - updated : 6/6/2012
|
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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">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Matthew B. Gross : 5/3/2012
|
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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>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 07/18/2024
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<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">
|
|
mgross : 03/01/2024<br>carol : 02/13/2024<br>carol : 02/12/2024<br>alopez : 02/08/2024<br>carol : 03/09/2022<br>carol : 08/09/2019<br>carol : 11/27/2017<br>alopez : 11/22/2017<br>mgross : 03/04/2015<br>mcolton : 2/16/2015<br>carol : 2/12/2014<br>carol : 2/11/2014<br>mcolton : 2/10/2014<br>carol : 2/10/2014<br>carol : 8/30/2013<br>carol : 6/4/2013<br>carol : 6/7/2012<br>terry : 6/7/2012<br>ckniffin : 6/6/2012<br>joanna : 5/4/2012<br>mgross : 5/3/2012
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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>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 614620
|
|
</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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|
|
INTRAFLAGELLAR TRANSPORT 140; IFT140
|
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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>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF<br />
|
|
KIAA0590
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: IFT140</em></strong>
|
|
</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>
|
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<em>
|
|
Cytogenetic location: 16p13.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 16:1,510,427-1,612,072 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
16p13.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Retinitis pigmentosa 80
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617781
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 9 with or without polydactyly
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
266920
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The IFT140 gene encodes a subunit of intraflagellar transport complex A (IFTA), which is involved in retrograde ciliary transport (summary by Perrault et al., 2012). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
|
<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (1998) cloned IFT140, which they called KIAA0590. The deduced protein contains 1,462 amino acids. It had an apparent molecular mass of more than 100 kD by SDS-PAGE. RT-PCR detected high expression in kidney, moderate expression in ovary, testis, prostate, and lung, and low expression in thymus, brain, heart, placenta, and skeletal muscle. Little to no expression was present in liver, pancreas, spleen, and small intestine. </p><p>Using an Ift140 lacZ-reporter mouse, Schmidts et al. (2013) observed more prominent expression of Ift140 in renal and retinal tissue of mouse embryos than in the skeleton, although immunofluorescence demonstrated clear localization of Ift140 to the ciliary axoneme in murine ATDC5 chondrocyte precursor cells. </p><p>Miller et al. (2013) reported that mouse Ift140 has 5 WD40 domains near the N terminus and 9 tetratricopeptide (TRP) repeats in the C-terminal half. Immunohistochemical analysis of embryonic mouse limb bud epithelium revealed localization of Ift140 to both the base and tip of primary cilium. </p><p>By transient expression of IFT140 in hTERT-RPE1 cells, Hull et al. (2016) observed localization of IFT140 to the basal body. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using radiation hybrid analysis, Nagase et al. (1998) mapped the IFT140 gene to chromosome 16. </p><p>Gross (2012) mapped the IFT140 gene to chromosome 16p13.3 based on an alignment of the IFT140 sequence (GenBank BC035577) with the genomic sequence (GRCh37).</p><p>Miller et al. (2013) reported that the mouse Ift140 gene maps to chromosome 17 between markers rs3667809 and rs3684506. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Short-Rib Thoracic Dysplasia 9 with or without Polydactyly</em></strong></p><p>
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In 10 patients from 6 unrelated families with short-rib thoracic dysplasia-9 (SRTD9; 266920) who had a clinical diagnosis of Mainzer-Saldino syndrome, Perrault et al. (2012) identified homozygous or compound heterozygous mutations in the IFT140 gene (see, e.g., 614620.0001-614620.0006). Mutations in the first patient were identified by ciliome sequencing and confirmed by Sanger sequencing. In addition, compound heterozygosity for mutations in IFT40 (614620.0002; 614620.0005) was identified in a patient with a clinical diagnosis of Jeune syndrome, or ATD. Heterozygous mutations in the IFT140 gene were found in 4 additional index patients with the disorder; a second pathogenic mutation was not detected in these patients. Clinical features of patients with biallelic mutations did not differ significantly from those with heterozygous mutations or from those with no mutation detected in the IFT40 gene. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the missense mutant IFT140 proteins had partial to complete loss of basal body localization and an increase of cytoplasmic staining. Fibroblasts from 2 unrelated patients showed absent cilia in a high proportion of cells compared to controls, indicating a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. The findings indicated that IFT140 has a pivotal role in proper development and function of ciliated cells, and confirmed that Mainzer-Saldino syndrome is a skeletal ciliopathy. </p><p>Using whole-exome sequencing, sequencing of a ciliopathy gene panel, and Sanger sequencing in a study of 64 probands clinically diagnosed with ATD and 2 with Mainzer, Schmidts et al. (2013) identified biallelic causative mutations in the IFT140 gene in 6 patients, including both MZSDS patients (see, e.g., 614620.0002 and 614620.0008-614620.0010). The patients presented with renal disease in early childhood and showed notable retinal involvement, but had a nonlethal thorax-related clinical course. </p><p>In a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, who also exhibited brachydactyly and ectodermal features and received a clinical diagnosis of Sensenbrenner syndrome, Bayat et al. (2017) identified compound heterozygosity for a missense (G212R; 614620.0005) and a nonsense (R760X; 614620.0016) mutation in the IFT140 gene. </p><p>In a 10-year-old boy who exhibited features consistent with MZSDS, Helm et al. (2017) identified homozygosity for the G212R substitution in the IFT140 gene, which was inherited from his mother through chromosome 16 maternal heteroisodisomy. </p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
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In 7 unrelated patients with nonsyndromic retinitis pigmentosa (RP80; 617781), Xu et al. (2015) identified compound heterozygous mutations in the ITF40 gene (see, e.g., 614620.0011-614620.0014). None of the patients exhibited any nonocular manifestations. </p><p>In 11 affected individuals from 5 unrelated families with nonsyndromic retinitis pigmentosa, Hull et al. (2016) identified homozygosity or compound heterozygosity for mutations in the IFT140 gene (see, e.g., 614620.0002, 614620.0013, and 614620.0015). The authors noted that the retinal dystrophy in these patients was milder than that associated with the syndromic disease (SRTD9). </p><p>In 10 Saudi probands with congenital severe retinopathy, Bifari et al. (2016) identified homozygosity for a missense mutation in the IFT140 gene (E664K; 614620.0001). Seven of the patients also exhibited developmental delay, and 5 had cone-shaped epiphyses on hand x-rays. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using N-ethyl-N-nitrosourea to induce embryonic lethal mutations in mice, Miller et al. (2013) created the 'cauli' phenotype. Cauli homozygotes died at midgestation with global and catastrophic developmental defects, including exencephaly, spina bifida, massive craniofacial dysmorphism, digit anomalies, cardiovascular anomalies, and somite patterning defects. Linkage analysis followed by direct sequencing identified a T-to-A transversion in exon 19 of the Ift140 gene that was predicted to alter binding sites for splicing factors Srsf5 (600914) and Srsf6 (601944) in the Ift140 pre-mRNA, and to cause an ile855-to-lys (I855K) substitution in the protein. The I855 residue resides within a coiled-coil domain of Ift140 immediately upstream of the first TRP. Real-time PCR and Western blot analysis of Ift140 cauli/cauli embryos showed an approximately 30% decrease in Ift140 mRNA and a 70% decrease in Ift140 protein. Scanning electron microscopic examination of limb buds of Ift140 cauli/cauli embryos at embryonic day 10.5 revealed epithelial cells with indistinct borders and reduced number of cilia. Cilia also showed severely disrupted morphology, including bulbous appearance, consistent with accumulation of cargo at the tip due to a defect in retrograde transport. Molecular analysis of Ift140 cauli/cauli limb buds revealed altered spatial patterning and regulation of multiple growth factors, predominantly those in the cilia-dependent hedgehog (see 600725) signaling pathways. Miller et al. (2013) found that Ift140 -/- mice showed an identical phenotype to Ift140 cauli/cauli mice. The authors concluded that the cauli phenotype results from loss of Ift140 rather than altered function following amino acid substitution, and that cauli represents a ciliopathy. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>16 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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RETINITIS PIGMENTOSA 80, INCLUDED
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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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IFT140, GLU664LYS
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<br />
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SNP: rs387907192,
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gnomAD: rs387907192,
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ClinVar: RCV000024359, RCV000515561, RCV001781315, RCV005016296
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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 />
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<p><strong><em>Short-Rib Thoracic Dysplasia 9</em></strong></p><p>
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|
In a 17-year-old boy with short-rib thoracic dysplasia-9 (SRTD9; 266920) with a clinical diagnosis of Mainzer-Saldino syndrome, who exhibited a small thoracic cavity with short and thick ribs and had early-onset retinal dystrophy and chronic renal failure, Perrault et al. (2012) identified compound heterozygosity for 2 mutations in the IFT140 gene: a 1990G-A transition, resulting in a glu664-to-lys (E664K) substitution at a highly conserved residue, and a G-to-T transversion in intron 19 (2399+1G-T; 614620.0002), predicted to result in the skipping of exon 18. The mutations were detected by ciliome sequencing of the patient's DNA and confirmed by Sanger sequencing; they were not found in 200 control chromosomes. Five affected individuals from 2 additional consanguineous Saudi Arabian families with a clinical diagnosis of Mainzer-Saldino syndrome were found to be homozygous for the E664K mutation. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining, indicating severe disorganization. Patient fibroblasts showed absent cilia in a high proportion of cells compared to controls, consistent with a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. All patients had onset of retinal dystrophy in infancy with visual loss and nystagmus, and all exhibited skeletal anomalies, including short stature in most, phalangeal cone-shaped epiphyses, and metaphyseal defects in the hips (in 3). In contrast to the compound heterozygous patient, none of the Saudi Arabian patients had overt renal disease and their thorax phenotype was reported to be unremarkable. Four of the 5 Saudi Arabian patients had mild intellectual disability or autistic features with seizures, which may have been due to other factors. </p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
|
|
In 10 Saudi probands with congenital severe retinopathy (RP80; 617781), including 2 boys previously reported by Khan et al. (2014), Bifari et al. (2016) identified homozygosity for the E664K substitution (c.1990G-A, NM_014714.3) in the IFT140 gene. Some patients exhibited additional features, including developmental delay in 7 of the patients, and cone-shaped phalangeal epiphyses in the 5 who underwent hand x-rays. Noting that all but 1 of the families they studied harbored the E664K mutation, the authors suggested that this represented a founder effect or a mutation hotspot. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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RETINITIS PIGMENTOSA 80, INCLUDED
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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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IFT140, IVS19DS, G-T, +1
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<br />
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SNP: rs376586707,
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gnomAD: rs376586707,
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ClinVar: RCV000024360, RCV000515584, RCV001075306, RCV001536095, RCV001818178, RCV003924859, RCV003993751, RCV004760343, RCV004786282
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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 />
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<p><strong><em>Short-Rib Thoracic Dysplasia 9</em></strong></p><p>
|
|
In an 18-month-old boy with short-rib thoracic dysplasia-9 (SRTD9; 266920), who had a clinical diagnosis of Jeune syndrome, Perrault et al. (2012) identified compound heterozygosity for a c.2399+1G-T transversion in intron 19 of the IFT140 gene, and a missense mutation (G212R; 614620.0005). The patient was hypotonic with poor feeding at birth and exhibited developmental delay, short thorax with short ribs, trident-shaped spurs on long bones, cone-shaped epiphyses of the phalanges, and increased echogenicity of the kidneys with nonspecific tubulointerstitial nephritis. </p><p>For discussion of the c.2399+1G-T mutation that Perrault et al. (2012) identified in compound heterozygous state in a 17-year-old boy with SRTD9, who had a clinical diagnosis of Mainzer-Saldino syndrome, see 614620.0001. </p><p>In a 39-year-old Austrian woman with a clinical diagnosis of Mainzer-Saldino syndrome, who had a small thorax, brachymesophalangism, and cone-shaped epiphyses, with childhood onset of retinal pigmentary dystrophy and small cystic kidneys resulting in end-stage renal disease by 12 years of age, Schmidts et al. (2013) identified compound heterozygosity for the c.2399+1G-T splice site mutation in the IFT140 gene and a c.4078T-C transition resulting in a cys1360-to-arg (C1360R; 614620.0007) substitution at a highly conserved residue. </p><p><strong><em>Retinitis Pigmentosa 80</em></strong></p><p>
|
|
In a 67-year-old Caucasian British man (patient 2) with retinitis pigmentosa (RP80; 617781), who also had hearing loss but was negative for mutation in 9 Usher syndrome (see 276900)-associated genes, Hull et al. (2016) identified compound heterozygosity for the c.2399+1G-T splice site mutation (c.2399+1G-T, NM_014714.3) and a c.2815T-C transition in the IFT140 gene, resulting in a ser939-to-pro (S939P; 614620.0015) substitution. The proband's younger sister, who had RP without hearing loss, was also compound heterozygous for the IFT140 variants, whereas his unaffected son carried only one of the mutations. Both patients exhibited normal development without skeletal manifestations or renal failure. Transient transfection in hTERT-RPE1 cells followed by immunostaining demonstrated significantly reduced basal body localization with the S939P mutant compared to wildtype. </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">
|
|
<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, TYR311CYS
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<br />
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SNP: rs387907193,
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ClinVar: RCV000024361
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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 an 18-year-old boy with short-rib thoracid dysplasia-9 without polydactyly (SRTD9; 266920), who had a clinical diagnosis of Mainzer-Saldino syndrome, Perrault et al. (2012) identified compound heterozygosity for 2 mutations in the IFT140 gene: a c.932A-G transition resulting in a tyr311-to-cys (Y311C) substitution that was predicted to be deleterious, and a 4-bp deletion (857_860del; 614620.0004), resulting in a frameshift and premature termination (Ile286LysfsTer6). Neither mutation was found in 200 control chromosomes. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the Y311C mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining. Fibroblasts of 1 patient showed absent cilia in a high proportion of cells compared to controls, indicating a defect in ciliogenesis and/or cilia maintenance. Although mutant IFT140 was localized along the cilia axoneme, there appeared to be a defect in retrograde ciliary transport with an abnormal distribution of other ciliary proteins. The patient had onset at birth of retinal dystrophy with visual loss, and nystagmus, phalangeal cone-shaped epiphyses in the feet, chronic renal failure, and cholestasis. Psychomotor development was normal. </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">
|
|
<strong>.0004 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, 4-BP DEL, NT857
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<br />
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SNP: rs431905506,
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ClinVar: RCV000024362
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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 4-bp deletion (c.856_860del) in the IFT140 gene that was found in compound heterozygous state by Perrault et al. (2012) in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920), who had a clinical diagnosis of Mainzer-Saldino syndrome, see 614620.0003. </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 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, GLY212ARG
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<br />
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SNP: rs201188361,
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gnomAD: rs201188361,
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ClinVar: RCV000024363, RCV000255441, RCV000515934, RCV000626465, RCV001249674, RCV001328311, RCV004752723
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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 2 affected members of a family with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920), who had a clinical diagnosis of Mainzer-Saldino syndrome, Perrault et al. (2012) identified compound heterozygosity for 2 mutations in the IFT140 gene: a c.634G-A transition resulting in a gly212-to-arg (G212R) substitution, and a 1-bp duplication (c.3916dup; 614620.0006), resulting in a frameshift and premature termination (Ala1306GlyfsTer56). Neither mutation was found in 200 control chromosomes and both were predicted to be deleterious. In vitro functional expression studies in retinal pigment epithelial cells demonstrated that the G212R mutant protein had partial to complete loss of basal body localization and an increase of cytoplasmic staining. The patients had early-onset retinitis pigmentosa with poor visual acuity, chronic renal failure leading to end-stage renal disease, and cholestasis. The kidneys were hyperechogenic with loss of corticomedullary differentiation. Both also had skeletal anomalies, including short stature, craniosynostosis, and phalangeal cone-shaped epiphyses. Psychomotor development was normal at ages 4 and 10 years, respectively. Perrault et al. (2012) also identified compound heterozygosity for the G212R mutation and a splice site mutation in the IFT140 gene (614620.0002) in an 18-month-old boy with a clinical diagnosis of Jeune syndrome, who exhibited short thorax with short ribs and trident-shaped spurs on long bones. </p><p>In a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, who also exhibited brachydactyly and ectodermal features and received a clinical diagnosis of Sensenbrenner syndrome (see 218330), Bayat et al. (2017) identified compound heterozygosity for the G212R mutation and a c.2278C-T transition in the IFT140 gene, resulting in an arg760-to-ter (R760X; 614620.0016) substitution. His unaffected parents were each heterozygous for 1 of the mutations. </p><p>In a 10-year-old boy with features of Mainzer-Saldino syndrome, who exhibited retinal dystrophy, acute-onset renal failure, and skeletal anomalies including bilateral coxa vara, broad femoral necks with mild bowing of the femoral diaphyses, and brachydactyly with shortened metacarpals and cone-shaped phalangeal epiphyses, Helm et al. (2017) identified homozygosity for the c.634G-A transition (c.634G-A, NM_014714.3) at the exon 6 donor splice site of the IFT140 gene, resulting in the G212R substitution at a conserved residue within the WD40 domain. His unaffected mother was heterozygous for the variant, but his father did not carry the mutation. Analysis of exome data indicated that the proband had chromosome 16 maternal heteroisodisomy, with segmental isodisomy at 16p13, suggesting that an early error in meiosis occurred in the maternal gamete. Helm et al. (2017) identified 2 different-sized PCR products from patient cells, the smaller of which was missing exon 6, resulting in frameshift and premature termination at residue 171. Functional analysis in ift140-morphant zebrafish demonstrated some improvement of gastrulation defects with the G212R mutant, but rescue was not as significant as that with wildtype IFT140, suggesting that G212R represents a partial loss-of-function variant. </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 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, 1-BP DUP, NT3916
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<br />
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SNP: rs587776909,
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ClinVar: RCV000024364, RCV000515983, RCV005007894
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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 1-bp duplication at nucleotide 3916 (c.3916dup) in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 (SRTD9; 266920) by Perrault et al. (2012), see 614620.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, CYS1360ARG
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<br />
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SNP: rs431905520,
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ClinVar: RCV000083296
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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 cys1360-to-arg (C1360R) mutation in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920) by Schmidts et al. (2013), see 614620.0002. </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>.0008 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</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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IFT140, VAL292MET
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<br />
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SNP: rs431905521,
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gnomAD: rs431905521,
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ClinVar: RCV000083297, RCV000515922, RCV000626469, RCV004579537, RCV004815018, RCV005016363
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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 3 unrelated Serbian patients with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920), who had a clinical diagnosis of Jeune asphyxiating thoracic dystrophy, Schmidts et al. (2013) identified compound heterozygosity for a c.874C-T transition in the IFT140 gene, resulting in a val292-to-met (V292M) substitution at a conserved residue, and another mutation in IFT140. In 2 patients, the second mutation was a c.1565G-A transition, resulting in a gly522-to-glu (G522E; 614620.0009) substitution at a highly conserved residue. In the third patient, the second mutation was a 1-bp deletion (c.1380delC; 614620.0010), causing a frameshift predicted to result in a premature termination codon (Asn460LysfsTer28). The mutations segregated with disease in each family and were not found in 110 Serbian control chromosomes. Functional analysis in transfected RPE1 cells revealed impaired localization of mutant IFT40 to the centrosome. All 3 patients had a small thorax, brachymesophalangism, cone-shaped epiphyses, retinal dystrophy, and increased renal echogenicity with onset of end-stage renal disease by 7 years of age. </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">
|
|
<strong>.0009 SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY</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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IFT140, GLY522GLU
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<br />
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SNP: rs199826737,
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gnomAD: rs199826737,
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ClinVar: RCV000083298, RCV000626462, RCV001075445, RCV001268554, RCV001542691, RCV002509205, RCV003398688, RCV005016364
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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>For discussion of the gly522-to-glu (G522E) mutation in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920) by Schmidts et al. (2013), see 614620.0008. </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>
|
|
<span class="mim-font">
|
|
<strong>.0010 SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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IFT140, 1-BP DEL, 1380C
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<br />
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SNP: rs431905522,
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gnomAD: rs431905522,
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ClinVar: RCV000083299, RCV001854453, RCV002498438, RCV004786361
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|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.1380delC) in the IFT140 gene that was found in compound heterozygous state in a patient with short-rib thoracic dysplasia-9 without polydactyly (SRTD9; 266920) by Schmidts et al. (2013), see 614620.0008. </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>
|
|
<span class="mim-font">
|
|
<strong>.0011 RETINITIS PIGMENTOSA 80</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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IFT140, LEU1399PRO
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<br />
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|
SNP: rs559371453,
|
|
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|
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gnomAD: rs559371453,
|
|
|
|
|
|
ClinVar: RCV000515594, RCV005010467
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 43-year-old Han Chinese man (patient SRF71) with retinitis pigmentosa (RP80; 617781), Xu et al. (2015) identified compound heterozygosity for mutations in the IFT140 gene: a c.4196T-C transition (c.4196T-C, NM_014714.3), resulting in a leu1399-to-pro (L1399P) substitution at a highly conserved residue within the TPR9 domain, and a 4-bp deletion (c.1898_1901delATAA; 614620.0012), causing a frameshift predicted to result in a premature termination codon (Asn633SerfsTer10). His unaffected parents were each heterozygous for 1 of the mutations, and his unaffected sister did not carry either mutation. The 4-bp deletion was not found in the ExAC database, whereas the L1399P variant was present once, in the East Asian population (allele frequency, 1 in 5,762). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 RETINITIS PIGMENTOSA 80</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT140, 4-BP DEL, 1898ATAA
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|
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|
|
|
<br />
|
|
|
|
SNP: rs1555487977,
|
|
|
|
|
|
|
|
ClinVar: RCV000515559
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 4-bp deletion (c.1898_1901delATAA, NM_014714.3) in the IFT140 gene, causing a frameshift predicted to result in a premature termination codon (Asn633SerfsTer10), that was found in compound heterozygous state in a Han Chinese man with retinitis pigmentosa (RP80; 617781) by Xu et al. (2015), see 614620.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 RETINITIS PIGMENTOSA 80</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT140, THR484MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs758052634,
|
|
|
|
|
|
gnomAD: rs758052634,
|
|
|
|
|
|
ClinVar: RCV000515606, RCV001073305, RCV001857877, RCV002282196, RCV002490876, RCV003326447
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Han Chinese boy (patient SRF117) who was noted to have retinal dystrophy in infancy (RP80; 617781), Xu et al. (2015) identified compound heterozygosity for mutations in the IFT140 gene: a c.1451C-T transition (c.1451C-T, NM_014714.3), resulting in a thr484-to-met (T484M) substitution, and a c.985T-C transition, resulting in a cys329-to-arg (C329R; 614620.0014) substitution at a highly conserved residue. (The c.1451C-T substitution was referred to as c.1452C-T in Figure 2.) His unaffected parents were each heterozygous for 1 of the mutations. The C329R mutation was not found in the ExAC database, whereas the T484M substitution was present at low frequency (allele frequency, 5 in 120,980 overall, and 2 in 8,640 in the East Asian population). </p><p>In 3 affected sibs and their affected first cousin once removed from a large consanguineous Pakistani family (family 1) with nonsyndromic RP, Hull et al. (2016) identified homozygosity for the T484M mutation (c.1451C-T, NM_014714.3) in the ITF140 gene, which segregated with disease in the family. Transient transfection in hTERT-RPE1 cells followed by immunostaining demonstrated significantly reduced basal body localization with the T484M mutant compared to wildtype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 RETINITIS PIGMENTOSA 80</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT140, CYS329ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1441549097,
|
|
|
|
|
|
gnomAD: rs1441549097,
|
|
|
|
|
|
ClinVar: RCV000515582
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.985T-C transition (c.985T-C, NM_014714.3) in the IFT140 gene, resulting in a cys329-to-arg (C329R) substitution, that was found in compound heterozygous state in a Han Chinese boy with retinitis pigmentosa (RP80; 617781) by Xu et al. (2015), see 614620.0013. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 RETINITIS PIGMENTOSA 80</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT140, SER939PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs145549969,
|
|
|
|
|
|
|
|
ClinVar: RCV000515565, RCV003530064
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2815T-C transition (c.2815T-C, NM_014714.3) in the IFT140 gene, resulting in a ser939-to-pro (S939P) substitution, that was found in compound heterozygous state in a Caucasian British brother and sister with retinitis pigmentosa (RP80; 617781) by Hull et al. (2016), see 614620.0002. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT140, ARG760TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555486629,
|
|
|
|
|
|
|
|
ClinVar: RCV000515580, RCV005010468
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.2278C-T transition in the IFT140 gene, resulting in an arg760-to-ter (R760X) substitution, that was found by Bayat et al. (2017) in compound heterozygous state in a 6.5-year-old British boy with short stature, short ribs and narrow thorax, retinal dystrophy, and end-stage renal failure, as well as brachydactyly and ectodermal features (SRTD9; 266920), see 614620.0005. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
<div>
|
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<br />
|
|
</div>
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|
</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bayat, A., Kerr, B., Douzgou, S., DDD Study.
|
|
<strong>The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.</strong>
|
|
Clin. Dysmorph. 26: 247-251, 2017.
|
|
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|
|
[PubMed: 28288023]
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|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000169]
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|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Bifari, I. N., Elkhamary, S. M., Bolz, H. J., Khan, A. O.
|
|
<strong>The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.</strong>
|
|
Brit. J. Ophthal. 100: 829-833, 2016.
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|
[PubMed: 26359340]
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|
[Full Text: https://doi.org/10.1136/bjophthalmol-2015-307555]
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|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 5/3/2012.
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|
|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Schrier Vergano, S., Katsanis, N., Davis, E. E.
|
|
<strong>Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.</strong>
|
|
Hum. Genomics 11: 16, 2017. Note: Electronic Article.
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|
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|
|
[PubMed: 28724397]
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|
|
[Full Text: https://doi.org/10.1186/s40246-017-0111-9]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G. E., Michaelides, M., Carss, K., Raymond, F. L., Rozet, J.-M., Ramsden, S. C., Black, G. C. M., Perrault, I., Sarkar, A., Moosajee, M., Webster, A. R., Arno, G., Moore, A. T.
|
|
<strong>Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140.</strong>
|
|
Invest. Ophthal. Vis. Sci. 57: 1053-1062, 2016.
|
|
|
|
|
|
[PubMed: 26968735]
|
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|
|
[Full Text: https://doi.org/10.1167/iovs.15-17976]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
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Khan, A. O., Bolz, H. J., Bergmann, C.
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Miller, K. A., Ah-Cann, C. J., Welfare, M. F., Tan, T. Y., Pope, K., Caruana, G., Freckmann, M.-L., Savarirayan, R., Bertram, J. F., Dobbie, M. S., Bateman, J. F., Farlie, P. G.
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<strong>Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.</strong>
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others.
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<strong>Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.</strong>
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Am. J. Hum. Genet. 90: 864-870, 2012.
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Schmidts, M., Frank, V., Eisenberger, T., al Turki, S., Bizet, A. A., Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., Vinke, T., Toenshoff, B., and 20 others.
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<strong>Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease.</strong>
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Hum. Mutat. 34: 714-724, 2013.
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[PubMed: 23418020]
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[Full Text: https://doi.org/10.1002/humu.22294]
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<strong>Mutations in human IFT140 cause non-syndromic retinal degeneration.</strong>
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Hum. Genet. 134: 1069-1078, 2015.
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[PubMed: 26216056]
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[Full Text: https://doi.org/10.1007/s00439-015-1586-x]
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