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Entry
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- *606045 - INTRAFLAGELLAR TRANSPORT 122; IFT122
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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">*606045</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606045">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000163913;t=ENST00000348417" 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=55764" 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=606045" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<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=ENSG00000163913;t=ENST00000348417" 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_001280541,NM_001280545,NM_001280546,NM_001410808,NM_001410809,NM_001410810,NM_001410811,NM_001410813,NM_001410815,NM_001410817,NM_018262,NM_052985,NM_052989,NM_052990,XM_006713691,XM_006713695,XM_011512972,XM_017006834,XM_047448546,XM_047448547,XM_047448548,XM_047448549,XM_047448551,XM_047448552,XM_047448553,XM_047448554" 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_052989" 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=606045" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06922&isoform_id=06922_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/IFT122" 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/6599141,7023226,7023542,10121886,10280601,10280603,10433963,10440379,13278984,16554619,16554623,16554625,20306228,21739328,37514848,62897751,119599651,119599652,119599653,119599654,119599655,119599656,193784670,193784862,193785711,193787752,193788499,194375812,194377560,194389566,194391222,212276436,256773256,444733227,526253054,526253058,526253060,578807565,578807573,767927126,1034634474,2217344985,2217344987,2217344990,2217344992,2217344999,2217345001,2217345005,2217345007,2287254639,2287254663,2287254682,2287254723,2287254725,2287254731,2287254748,2462591251,2462591253,2462591255,2462591257,2462591259,2462591261,2462591263,2462591265,2462591267,2462591269,2462591272,2462591274" 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/Q9HBG6" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55764" 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=ENSG00000163913;t=ENST00000348417" 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=IFT122" 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=IFT122" 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+55764" 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/IFT122" 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:55764" 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/55764" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000348417.7&hgg_start=129440224&hgg_end=129520507&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/genes/HGNC:13556" 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/ift122" 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=606045[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=606045[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/IFT122/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/ENSG00000163913" 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=IFT122" 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=IFT122" 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=IFT122" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/IFT122" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IFT122&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/PA37798" 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:13556" 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/FBgn0265102.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:1932386" 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/IFT122#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:1932386" 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/55764/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://omia.org/OMIA002320/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=55764" 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=WBGene00000906;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-040426-2449" 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=IFT122&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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606045
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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 122; IFT122
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 122, CHLAMYDOMONAS, HOMOLOG OF<br />
|
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WD REPEAT-CONTAINING PROTEIN 10; WDR10
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IFT122" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IFT122</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/3/663?start=-3&limit=10&highlight=663">3q21.3-q22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:129440224-129520507&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:129,440,224-129,520,507</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/3/663?start=-3&limit=10&highlight=663">
|
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3q21.3-q22.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Cranioectodermal dysplasia 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/218330"> 218330 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<p>A conserved core of 4 or more modular repeat units defines a group of functionally diverse regulatory proteins in eukaryotes known as the WD repeat family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation (summary by <a href="#2" class="mim-tip-reference" title="Claudio, J. O., Liew, C.-C., Ma, J., Heng, H. H. Q., Stewart, A. K., Hawley, R. G. <strong>Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13.</strong> Genomics 59: 85-89, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10395803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10395803</a>] [<a href="https://doi.org/10.1006/geno.1999.5858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10395803">Claudio et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10395803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gross, C., De Baere, E., Lo, A., Chang, W., Messiaen, L. <strong>Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.</strong> DNA Cell Biol. 20: 41-52, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242542</a>] [<a href="https://doi.org/10.1089/10445490150504684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242542">Gross et al. (2001)</a> screened human HL60 leukemia and prostate and colon cancer cDNA libraries with degenerate oligonucleotide primers directed to sequences encoding the AF2 domains of class III nuclear receptors. They then used 5-prime and 3-prime RACE and screening of a testis cDNA library to clone IFT122, which they designated WDR10. They also isolated a longer variant of this cDNA, which appeared to have an additional 153-bp exon near the 5-prime end. The full-length WDR10 cDNA encodes a deduced 1,242-amino acid protein with an AF2-like domain, 7 N-terminal WD repeat units, and 2 potential nuclear localization sequences. Northern blot analysis detected a single 4-kb WDR10 transcript in most tissues tested, with predominant expression in testis and pituitary; a 3.5-kb transcript was detected in HL60 leukemia cells. Study of a WDR10-GFP fusion protein demonstrated that WDR10 is localized in the cytoplasm. In situ hybridization on reproductive tissues in the rat showed stage-specific expression of WDR10 within developing sperm and ovarian follicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Gross, C., De Baere, E., Lo, A., Chang, W., Messiaen, L. <strong>Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.</strong> DNA Cell Biol. 20: 41-52, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242542</a>] [<a href="https://doi.org/10.1089/10445490150504684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242542">Gross et al. (2001)</a> determined that the IFT122 gene has at least 28 exons spanning approximately 65 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242542" 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 FISH, <a href="#4" class="mim-tip-reference" title="Gross, C., De Baere, E., Lo, A., Chang, W., Messiaen, L. <strong>Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.</strong> DNA Cell Biol. 20: 41-52, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242542</a>] [<a href="https://doi.org/10.1089/10445490150504684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242542">Gross et al. (2001)</a> mapped the IFT122 gene to chromosome 3q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a> performed morpholino knockdown of ift122 in zebrafish embryos and observed defects typical of other ciliopathy models including shortened body axis and curvature, cardiac edema, and small eyes at 80 hours postfertilization, with pronephric cysts and a distended cranium consistent with hydrocephalus and otolith defects at 5 days postfertilization. Cilia and their basal bodies were dramatically reduced in the pronephric duct of morphant embryos compared to control embryos, and primary cilia shortening was observed in the morphant zebrafish Kupffer vesicle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20493458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using transfected HEK293T cells, <a href="#6" class="mim-tip-reference" title="Takahara, M., Katoh, Y., Nakamura, K., Hirano, T., Sugawa, M., Tsurumi, Y., Nakayama, K. <strong>Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.</strong> Hum. Molec. Genet. 27: 516-528, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29220510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29220510</a>] [<a href="https://doi.org/10.1093/hmg/ddx421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29220510">Takahara et al. (2018)</a> demonstrated that IFT122 formed the trimeric IFT122-IFT140 (<a href="/entry/614620">614620</a>)-IFT144 (WDR19; <a href="/entry/608151">608151</a>) core subcomplex of IFT-A via its C-terminal region containing the tetratricopeptide repeat domain. IFT122 interacted with the IFT43 (<a href="/entry/614068">614068</a>)-IFT121 (WDR35; <a href="/entry/613602">613602</a>) dimer in the trimeric IFT43-IFT121-IFT139 peripheral subcomplex of IFT-A via its N-terminal region containing the WD40 domain. CED1 (<a href="/entry/218330">218330</a>)-associated missense mutations in IFT122 affected interaction of IFT122 with IFT43-IFT121 and IFT139 and thereby affected formation of the entire peripheral subcomplex of IFT-A. Human IFT122-knockout cells lacked recognizable cilia, in contrast with IFT121-knockout cells, which had only a ciliary trafficking defect. The lack of cilia in IFT122-knockout cells could be rescued by exogenous expression of wildtype IFT122 or IFT122 carrying CED1-associated mutations. However, IFT122-knockout cells expressing CED1-associated IFT122 mutations had abnormal localization of several ciliary proteins, indicating defective trafficking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29220510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Polish family with cranioectodermal dysplasia mapping to chromosome 3q21-q24 (CED1; <a href="/entry/218330">218330</a>), <a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a> sequenced 79 candidate genes and identified homozygosity for a missense mutation in the IFT122 gene (V553G; <a href="#0001">606045.0001</a>) that segregated with the disease. Fibroblasts from 1 of the sibs showed significantly reduced cilia frequency and length compared to controls. Analysis of IFT122 in 11 additional unrelated patients with CED revealed homozygosity and compound heterozygosity for mutations in 2 of the patients (<a href="#0002">606045.0002</a>-<a href="#0004">606045.0004</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20493458" 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 21-week-old male fetus (II-8) with skeletal features consistent with CED1, <a href="#7" class="mim-tip-reference" title="Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R. K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N. <strong>Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.</strong> Clin. Genet. 85: 592-594, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23826986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23826986</a>] [<a href="https://doi.org/10.1111/cge.12215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23826986">Tsurusaki et al. (2014)</a> identified compound heterozygosity for a 1-bp deletion (<a href="#0005">606045.0005</a>) and a missense mutation (G546R; <a href="#0006">606045.0006</a>) in the IFT122 gene that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23826986" 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 male infant who died shortly after birth with craniosynostosis, short ribs, micromelia, and postaxial polydactyly of the hands, <a href="#5" class="mim-tip-reference" title="Silveira, K. C., Moreno, C. A., Cavalcanti, D. P. <strong>Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.</strong> Am. J. Med. Genet. 173A: 1186-1189, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28370949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28370949</a>] [<a href="https://doi.org/10.1002/ajmg.a.38157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28370949">Silveira et al. (2017)</a> identified 3 mutations in the IFT122 gene: a missense mutation (A1062P; <a href="#0007">606045.0007</a>) on 1 allele, and a duplication followed by deletion (<a href="#0008">606045.0008</a>) on the other allele that resulted in frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28370949" 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 whole-exome sequencing in a Chinese male infant with CED1, <a href="#9" class="mim-tip-reference" title="Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J. <strong>A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: a case report.</strong> Exp. Ther. Med. 21: 311, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33717254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33717254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33717254[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/10.3892/etm.2021.9742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33717254">Yang et al. (2021)</a> identified compound heterozygous mutations in the IFT122 gene (<a href="#0009">606045.0009</a> and <a href="#0010">606045.0010</a>). Functional studies were not performed. The patient had macrocephaly, dysmorphic facial features, upper limb phocomelia, and postaxial polydactyly of the hands and feet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33717254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>10 Selected Examples</a>):</strong>
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<a href="/allelicVariants/606045" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606045[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 CRANIOECTODERMAL DYSPLASIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607191 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607191;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/rs267607191?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=rs267607191" 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=rs267607191" 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=RCV000004898" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004898" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004898</a>
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<p>In an affected sister and brother with cranioectodermal dysplasia (CED1; <a href="/entry/218330">218330</a>), born of distantly related Polish parents, <a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a> identified homozygosity for a T-G transversion in the IFT122 gene, resulting in a val553-to-gly (V553G) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 340 ethnically matched control chromosomes. Analysis of fibroblasts from the brother showed significantly reduced cilia frequency and length compared to 3 unrelated, healthy German controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20493458" 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 class="mim-font">
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<strong>.0002 CRANIOECTODERMAL DYSPLASIA 1</strong>
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IFT122, SER373PHE
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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> rs267607192 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607192;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/rs267607192?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=rs267607192" 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=rs267607192" 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=RCV000004899" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004899" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004899</a>
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</span>
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<span class="mim-text-font">
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<p>In a boy with cranioectodermal dysplasia (CED1; <a href="/entry/218330">218330</a>), born of fourth-cousin Norwegian parents and previously reported by <a href="#3" class="mim-tip-reference" title="Fry, A. E., Klingenberg, C., Matthes, J., Heimdal, K., Hennekam, R C. M., Pilz, D. T. <strong>Connective tissue involvement in two patients with features of cranioectodermal dysplasia.</strong> Am. J. Med. Genet. 149A: 2212-2215, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19760620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19760620</a>] [<a href="https://doi.org/10.1002/ajmg.a.33027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19760620">Fry et al. (2009)</a>, <a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a> identified homozygosity for a C-T transition in the IFT122 gene, resulting in a ser373-to-phe (S373F) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 340 ethnically matched control chromosomes. The patient had an unaffected sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20493458+19760620" 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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 CRANIOECTODERMAL DYSPLASIA 1</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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<div style="float: left;">
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IFT122, IVS6, G-A, +5
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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"><span class="text-primary">●</span> rs376595844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376595844;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/rs376595844?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=rs376595844" 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=rs376595844" 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=RCV000004900" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004900" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004900</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>In an Italian boy with cranioectodermal dysplasia (CED1; <a href="/entry/218330">218330</a>), originally reported by <a href="#10" class="mim-tip-reference" title="Zaffanello, M., Diomedi-Camassei, F., Melzi, M. L., Torre, G., Callea, F., Emma, F. <strong>Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.</strong> Am. J. Med. Genet. 140A: 2336-2340, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022080</a>] [<a href="https://doi.org/10.1002/ajmg.a.31464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17022080">Zaffanello et al. (2006)</a>, <a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a> identified compound heterozygosity for a G-A transition in intron 6 (502+5G-A) of the IFT122 gene and a de novo trp7-to-cys substitution (W7C; <a href="#0004">606045.0004</a>) at a highly conserved residue in exon 1. The mother was a heterozygous carrier of the splice site mutation but the missense mutation was not detected in either parent; neither mutation was found in 340 ethnically matched control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20493458+17022080" 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="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 CRANIOECTODERMAL DYSPLASIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607193 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607193;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=rs267607193" 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=rs267607193" 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=RCV000004901" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004901" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004901</a>
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<span class="mim-text-font">
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<p>For discussion of the trp7-to-cys (W7C) mutation in the IFT122 gene that was found in compound heterozygous state in a patient with cranioectodermal dysplasia (CED1; <a href="/entry/218330">218330</a>) by <a href="#8" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al. (2010)</a>, see <a href="#0003">606045.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20493458" 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="0005" class="mim-anchor"></a>
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<strong>.0005 CRANIOECTODERMAL DYSPLASIA 1</strong>
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IFT122, 1-BP DEL, 1108G
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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> rs397515567 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515567;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/rs397515567?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=rs397515567" 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=rs397515567" 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=RCV000055971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055971</a>
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<p>In a 21-week-old male fetus (II-8) with skeletal features consistent with cranioectodermal dysplasia-1 (CED1; <a href="/entry/218330">218330</a>), <a href="#7" class="mim-tip-reference" title="Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R. K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N. <strong>Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.</strong> Clin. Genet. 85: 592-594, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23826986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23826986</a>] [<a href="https://doi.org/10.1111/cge.12215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23826986">Tsurusaki et al. (2014)</a> identified compound heterozygosity for a 1-bp deletion (c.1108delG) in exon 11 of the IFT122 gene, causing a frameshift predicted to result in a premature termination codon (Glu370SerfsTer51), and a c.1636G-A transition in exon 14, resulting in a gly546-to-arg (G546R; <a href="#0006">606045.0006</a>) substitution. The same mutations were identified in the chorionic villi from another pregnancy (II-6) in the family that spontaneously aborted at 7 weeks' gestation. The unaffected mother was heterozygous for the G546R variant, and an unaffected brother was heterozygous for the 1-bp deletion; DNA was unavailable from the unaffected father, or from 3 other spontaneous abortions or 1 terminated pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23826986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CRANIOECTODERMAL DYSPLASIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515568 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515568;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=rs397515568" 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=rs397515568" 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=RCV000055972 OR RCV000754963" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055972, RCV000754963" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055972...</a>
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<p>For discussion of the c.1636G-A transition in exon 14 of the IFT122 gene, resulting in a gly546-to-arg (G546R) substitution, that was found in compound heterozygosity in a 21-week-old male fetus (II-8) with skeletal features consistent with cranioectodermal dysplasia-1 (CED1; <a href="/entry/218330">218330</a>) by <a href="#7" class="mim-tip-reference" title="Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R. K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N. <strong>Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.</strong> Clin. Genet. 85: 592-594, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23826986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23826986</a>] [<a href="https://doi.org/10.1111/cge.12215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23826986">Tsurusaki et al. (2014)</a>, see <a href="#0005">606045.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23826986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CRANIOECTODERMAL DYSPLASIA 1</strong>
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IFT122, ALA1062PRO
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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> rs199622112 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199622112;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/rs199622112?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=rs199622112" 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=rs199622112" 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=RCV001219619 OR RCV003233996" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001219619, RCV003233996" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001219619...</a>
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<p>In a male infant who died shortly after birth with craniosynostosis, short ribs, micromelia, and postaxial polydactyly of the hands (CED1; <a href="/entry/218330">218330</a>), who was previously studied by <a href="#1" class="mim-tip-reference" title="Cavalcanti, D. P., Huber, C., Sang, K.-H. L. Q., Baujat, G., Collins, F., Delezoide, A.-L., Dagoneau, N., Le Merrer, M., Martinovic, J., Mello, M. F. S., Vekemans, M., Munnich, A., Cormier-Daire, V. <strong>Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.</strong> J. Med. Genet. 48: 88-92, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648123</a>] [<a href="https://doi.org/10.1136/jmg.2009.069468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19648123">Cavalcanti et al. (2011)</a>, <a href="#5" class="mim-tip-reference" title="Silveira, K. C., Moreno, C. A., Cavalcanti, D. P. <strong>Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.</strong> Am. J. Med. Genet. 173A: 1186-1189, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28370949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28370949</a>] [<a href="https://doi.org/10.1002/ajmg.a.38157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28370949">Silveira et al. (2017)</a> identified 3 mutations in the IFT122 gene: a c.3184G-C transversion, resulting in an ala1062-to-pro (A1062P) substitution within the tetratricopeptide-like helical domain, on 1 allele; and a 1-bp duplication (c.3228dupG) followed by 3-bp deletion (c.3231_3233delCAT) on the other allele (<a href="#0008">606045.0008</a>), predicted to result in a premature termination codon (Tyr1077ValfsTer10). The complex mutation was inherited from his unaffected mother; DNA was unavailable from the father. The A1062P variant was not found in 100 control chromosomes, but was present at low frequency (0.00002479) in the ExAC database, only in heterozygosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28370949+19648123" 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="0008" class="mim-anchor"></a>
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<strong>.0008 CRANIOECTODERMAL DYSPLASIA 1</strong>
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IFT122, 1-BP DUP, 3228G AND 3-BP DEL, 3231CAT
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2083230922 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2083230922;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=rs2083230922" 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=rs2083230922" 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=RCV001263242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263242</a>
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<p>For discussion of the 1-bp duplication (c.3228dupG) and 3-bp deletion (c.3231_3233delCAT), occurring on the same allele in the IFT122 gene and causing a frameshift predicted to result in a premature termination codon (Tyr1077ValfsTer10), found in compound heterozygous state in a male infant who died shortly after birth with cranioectodermal dysplasia-1 (CED1; <a href="/entry/218330">218330</a>) by <a href="#5" class="mim-tip-reference" title="Silveira, K. C., Moreno, C. A., Cavalcanti, D. P. <strong>Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.</strong> Am. J. Med. Genet. 173A: 1186-1189, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28370949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28370949</a>] [<a href="https://doi.org/10.1002/ajmg.a.38157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28370949">Silveira et al. (2017)</a>, see <a href="#0007">606045.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28370949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CRANIOECTODERMAL DYSPLASIA 1</strong>
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IFT122, 11-BP DEL, NT366
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559868433 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559868433;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=rs1559868433" 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=rs1559868433" 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=RCV001783466 OR RCV003416445" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001783466, RCV003416445" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001783466...</a>
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<p>In a patient with cranioectodermal dysplasia-1 (CED1; <a href="/entry/218330">218330</a>), <a href="#9" class="mim-tip-reference" title="Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J. <strong>A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: a case report.</strong> Exp. Ther. Med. 21: 311, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33717254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33717254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33717254[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/10.3892/etm.2021.9742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33717254">Yang et al. (2021)</a> identified compound heterozygous mutations in the IFT122 gene: an 11-bp deletion (c.366_376delAGGCCAAGGTG, NM_052985.3) in exon 5, resulting in a frameshift and premature termination (Gly123fsTer3) in the third WD domain, and a c.3879A-G transition (<a href="#0010">606045.0010</a>) in exon 31, resulting in a Ter1293Trpext stop-loss mutation. The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutations were not found in the dbSNP, ExAC, or gnomAD databases. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33717254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 CRANIOECTODERMAL DYSPLASIA 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2108740086 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2108740086;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=rs2108740086" 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=rs2108740086" 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=RCV001797987" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001797987" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001797987</a>
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<p>For discussion of the c.3879A-G transition (c.3879A-G, NM_052985.2) in exon 31 of the IFT122 gene, resulting in a Ter1293Trpext stop-loss mutation, that was found in compound heterozygous state in a patient with cranioectodermal dysplasia-1 (CED1; <a href="/entry/218330">218330</a>) by <a href="#9" class="mim-tip-reference" title="Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J. <strong>A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: a case report.</strong> Exp. Ther. Med. 21: 311, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33717254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33717254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33717254[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/10.3892/etm.2021.9742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33717254">Yang et al. (2021)</a>, see <a href="#0009">606045.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33717254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/jmg.2009.069468" target="_blank">Full Text</a>]
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Claudio, J. O., Liew, C.-C., Ma, J., Heng, H. H. Q., Stewart, A. K., Hawley, R. G.
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[<a href="https://doi.org/10.1006/geno.1999.5858" target="_blank">Full Text</a>]
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Fry, A. E., Klingenberg, C., Matthes, J., Heimdal, K., Hennekam, R C. M., Pilz, D. T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19760620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19760620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19760620" 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/ajmg.a.33027" target="_blank">Full Text</a>]
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Gross, C., De Baere, E., Lo, A., Chang, W., Messiaen, L.
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<strong>Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242542" 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/10.1089/10445490150504684" target="_blank">Full Text</a>]
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Silveira, K. C., Moreno, C. A., Cavalcanti, D. P.
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<strong>Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.</strong>
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Am. J. Med. Genet. 173A: 1186-1189, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28370949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28370949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28370949" 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/ajmg.a.38157" target="_blank">Full Text</a>]
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Takahara, M., Katoh, Y., Nakamura, K., Hirano, T., Sugawa, M., Tsurumi, Y., Nakayama, K.
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<strong>Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.</strong>
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Hum. Molec. Genet. 27: 516-528, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29220510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29220510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29220510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddx421" target="_blank">Full Text</a>]
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Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R. K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N.
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<strong>Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.</strong>
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Clin. Genet. 85: 592-594, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23826986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23826986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23826986" 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/10.1111/cge.12215" target="_blank">Full Text</a>]
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Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W.
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<strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong>
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Am. J. Hum. Genet. 86: 949-956, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[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=20493458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J.
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<strong>A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: a case report.</strong>
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Exp. Ther. Med. 21: 311, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33717254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33717254</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33717254[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=33717254" 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/10.3892/etm.2021.9742" target="_blank">Full Text</a>]
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Zaffanello, M., Diomedi-Camassei, F., Melzi, M. L., Torre, G., Callea, F., Emma, F.
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<strong>Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.</strong>
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Am. J. Med. Genet. 140A: 2336-2340, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17022080" 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/ajmg.a.31464" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 12/22/2021
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Marla J. F. O'Neill - updated : 10/29/2020<br>Bao Lige - updated : 07/03/2018<br>Marla J. F. O'Neill - updated : 7/12/2011<br>Marla J. F. O'Neill - updated : 7/15/2010
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alopez : 11/02/2020<br>alopez : 10/29/2020<br>carol : 08/09/2019<br>mgross : 07/03/2018<br>mcolton : 02/10/2015<br>wwang : 7/20/2011<br>terry : 7/12/2011<br>carol : 7/15/2010<br>carol : 7/1/2010<br>joanna : 1/22/2004<br>mcapotos : 6/20/2001<br>carol : 6/20/2001<br>carol : 6/20/2001
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606045
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 122; IFT122
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 122, CHLAMYDOMONAS, HOMOLOG OF<br />
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WD REPEAT-CONTAINING PROTEIN 10; WDR10
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IFT122</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q21.3-q22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:129,440,224-129,520,507 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
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|
Location
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
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<span class="mim-font">
|
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3q21.3-q22.1
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Cranioectodermal dysplasia 1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
218330
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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|
<p>A conserved core of 4 or more modular repeat units defines a group of functionally diverse regulatory proteins in eukaryotes known as the WD repeat family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation (summary by Claudio et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Gross et al. (2001) screened human HL60 leukemia and prostate and colon cancer cDNA libraries with degenerate oligonucleotide primers directed to sequences encoding the AF2 domains of class III nuclear receptors. They then used 5-prime and 3-prime RACE and screening of a testis cDNA library to clone IFT122, which they designated WDR10. They also isolated a longer variant of this cDNA, which appeared to have an additional 153-bp exon near the 5-prime end. The full-length WDR10 cDNA encodes a deduced 1,242-amino acid protein with an AF2-like domain, 7 N-terminal WD repeat units, and 2 potential nuclear localization sequences. Northern blot analysis detected a single 4-kb WDR10 transcript in most tissues tested, with predominant expression in testis and pituitary; a 3.5-kb transcript was detected in HL60 leukemia cells. Study of a WDR10-GFP fusion protein demonstrated that WDR10 is localized in the cytoplasm. In situ hybridization on reproductive tissues in the rat showed stage-specific expression of WDR10 within developing sperm and ovarian follicles. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Gross et al. (2001) determined that the IFT122 gene has at least 28 exons spanning approximately 65 kb of genomic DNA. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By FISH, Gross et al. (2001) mapped the IFT122 gene to chromosome 3q21. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Walczak-Sztulpa et al. (2010) performed morpholino knockdown of ift122 in zebrafish embryos and observed defects typical of other ciliopathy models including shortened body axis and curvature, cardiac edema, and small eyes at 80 hours postfertilization, with pronephric cysts and a distended cranium consistent with hydrocephalus and otolith defects at 5 days postfertilization. Cilia and their basal bodies were dramatically reduced in the pronephric duct of morphant embryos compared to control embryos, and primary cilia shortening was observed in the morphant zebrafish Kupffer vesicle. </p><p>Using transfected HEK293T cells, Takahara et al. (2018) demonstrated that IFT122 formed the trimeric IFT122-IFT140 (614620)-IFT144 (WDR19; 608151) core subcomplex of IFT-A via its C-terminal region containing the tetratricopeptide repeat domain. IFT122 interacted with the IFT43 (614068)-IFT121 (WDR35; 613602) dimer in the trimeric IFT43-IFT121-IFT139 peripheral subcomplex of IFT-A via its N-terminal region containing the WD40 domain. CED1 (218330)-associated missense mutations in IFT122 affected interaction of IFT122 with IFT43-IFT121 and IFT139 and thereby affected formation of the entire peripheral subcomplex of IFT-A. Human IFT122-knockout cells lacked recognizable cilia, in contrast with IFT121-knockout cells, which had only a ciliary trafficking defect. The lack of cilia in IFT122-knockout cells could be rescued by exogenous expression of wildtype IFT122 or IFT122 carrying CED1-associated mutations. However, IFT122-knockout cells expressing CED1-associated IFT122 mutations had abnormal localization of several ciliary proteins, indicating defective trafficking. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Polish family with cranioectodermal dysplasia mapping to chromosome 3q21-q24 (CED1; 218330), Walczak-Sztulpa et al. (2010) sequenced 79 candidate genes and identified homozygosity for a missense mutation in the IFT122 gene (V553G; 606045.0001) that segregated with the disease. Fibroblasts from 1 of the sibs showed significantly reduced cilia frequency and length compared to controls. Analysis of IFT122 in 11 additional unrelated patients with CED revealed homozygosity and compound heterozygosity for mutations in 2 of the patients (606045.0002-606045.0004, respectively). </p><p>In a 21-week-old male fetus (II-8) with skeletal features consistent with CED1, Tsurusaki et al. (2014) identified compound heterozygosity for a 1-bp deletion (606045.0005) and a missense mutation (G546R; 606045.0006) in the IFT122 gene that segregated with disease in the family. </p><p>In a male infant who died shortly after birth with craniosynostosis, short ribs, micromelia, and postaxial polydactyly of the hands, Silveira et al. (2017) identified 3 mutations in the IFT122 gene: a missense mutation (A1062P; 606045.0007) on 1 allele, and a duplication followed by deletion (606045.0008) on the other allele that resulted in frameshift. </p><p>By whole-exome sequencing in a Chinese male infant with CED1, Yang et al. (2021) identified compound heterozygous mutations in the IFT122 gene (606045.0009 and 606045.0010). Functional studies were not performed. The patient had macrocephaly, dysmorphic facial features, upper limb phocomelia, and postaxial polydactyly of the hands and feet. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, VAL553GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607191,
|
|
|
|
|
|
gnomAD: rs267607191,
|
|
|
|
|
|
ClinVar: RCV000004898
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an affected sister and brother with cranioectodermal dysplasia (CED1; 218330), born of distantly related Polish parents, Walczak-Sztulpa et al. (2010) identified homozygosity for a T-G transversion in the IFT122 gene, resulting in a val553-to-gly (V553G) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 340 ethnically matched control chromosomes. Analysis of fibroblasts from the brother showed significantly reduced cilia frequency and length compared to 3 unrelated, healthy German controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, SER373PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607192,
|
|
|
|
|
|
gnomAD: rs267607192,
|
|
|
|
|
|
ClinVar: RCV000004899
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with cranioectodermal dysplasia (CED1; 218330), born of fourth-cousin Norwegian parents and previously reported by Fry et al. (2009), Walczak-Sztulpa et al. (2010) identified homozygosity for a C-T transition in the IFT122 gene, resulting in a ser373-to-phe (S373F) substitution at a highly conserved residue. The unaffected parents were heterozygous for the mutation, which was not found in 340 ethnically matched control chromosomes. The patient had an unaffected sister. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, IVS6, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs376595844,
|
|
|
|
|
|
gnomAD: rs376595844,
|
|
|
|
|
|
ClinVar: RCV000004900
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian boy with cranioectodermal dysplasia (CED1; 218330), originally reported by Zaffanello et al. (2006), Walczak-Sztulpa et al. (2010) identified compound heterozygosity for a G-A transition in intron 6 (502+5G-A) of the IFT122 gene and a de novo trp7-to-cys substitution (W7C; 606045.0004) at a highly conserved residue in exon 1. The mother was a heterozygous carrier of the splice site mutation but the missense mutation was not detected in either parent; neither mutation was found in 340 ethnically matched control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, TRP7CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607193,
|
|
|
|
|
|
|
|
ClinVar: RCV000004901
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the trp7-to-cys (W7C) mutation in the IFT122 gene that was found in compound heterozygous state in a patient with cranioectodermal dysplasia (CED1; 218330) by Walczak-Sztulpa et al. (2010), see 606045.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, 1-BP DEL, 1108G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515567,
|
|
|
|
|
|
gnomAD: rs397515567,
|
|
|
|
|
|
ClinVar: RCV000055971
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-week-old male fetus (II-8) with skeletal features consistent with cranioectodermal dysplasia-1 (CED1; 218330), Tsurusaki et al. (2014) identified compound heterozygosity for a 1-bp deletion (c.1108delG) in exon 11 of the IFT122 gene, causing a frameshift predicted to result in a premature termination codon (Glu370SerfsTer51), and a c.1636G-A transition in exon 14, resulting in a gly546-to-arg (G546R; 606045.0006) substitution. The same mutations were identified in the chorionic villi from another pregnancy (II-6) in the family that spontaneously aborted at 7 weeks' gestation. The unaffected mother was heterozygous for the G546R variant, and an unaffected brother was heterozygous for the 1-bp deletion; DNA was unavailable from the unaffected father, or from 3 other spontaneous abortions or 1 terminated pregnancy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CRANIOECTODERMAL DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
IFT122, GLY546ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515568,
|
|
|
|
|
|
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ClinVar: RCV000055972, RCV000754963
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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 c.1636G-A transition in exon 14 of the IFT122 gene, resulting in a gly546-to-arg (G546R) substitution, that was found in compound heterozygosity in a 21-week-old male fetus (II-8) with skeletal features consistent with cranioectodermal dysplasia-1 (CED1; 218330) by Tsurusaki et al. (2014), see 606045.0005. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 CRANIOECTODERMAL DYSPLASIA 1</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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IFT122, ALA1062PRO
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<br />
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SNP: rs199622112,
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gnomAD: rs199622112,
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ClinVar: RCV001219619, RCV003233996
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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 male infant who died shortly after birth with craniosynostosis, short ribs, micromelia, and postaxial polydactyly of the hands (CED1; 218330), who was previously studied by Cavalcanti et al. (2011), Silveira et al. (2017) identified 3 mutations in the IFT122 gene: a c.3184G-C transversion, resulting in an ala1062-to-pro (A1062P) substitution within the tetratricopeptide-like helical domain, on 1 allele; and a 1-bp duplication (c.3228dupG) followed by 3-bp deletion (c.3231_3233delCAT) on the other allele (606045.0008), predicted to result in a premature termination codon (Tyr1077ValfsTer10). The complex mutation was inherited from his unaffected mother; DNA was unavailable from the father. The A1062P variant was not found in 100 control chromosomes, but was present at low frequency (0.00002479) in the ExAC database, only in heterozygosity. </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 CRANIOECTODERMAL DYSPLASIA 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT122, 1-BP DUP, 3228G AND 3-BP DEL, 3231CAT
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<br />
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SNP: rs2083230922,
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ClinVar: RCV001263242
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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 (c.3228dupG) and 3-bp deletion (c.3231_3233delCAT), occurring on the same allele in the IFT122 gene and causing a frameshift predicted to result in a premature termination codon (Tyr1077ValfsTer10), found in compound heterozygous state in a male infant who died shortly after birth with cranioectodermal dysplasia-1 (CED1; 218330) by Silveira et al. (2017), see 606045.0007. </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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<h4>
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<span class="mim-font">
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<strong>.0009 CRANIOECTODERMAL DYSPLASIA 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT122, 11-BP DEL, NT366
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<br />
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SNP: rs1559868433,
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ClinVar: RCV001783466, RCV003416445
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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 patient with cranioectodermal dysplasia-1 (CED1; 218330), Yang et al. (2021) identified compound heterozygous mutations in the IFT122 gene: an 11-bp deletion (c.366_376delAGGCCAAGGTG, NM_052985.3) in exon 5, resulting in a frameshift and premature termination (Gly123fsTer3) in the third WD domain, and a c.3879A-G transition (606045.0010) in exon 31, resulting in a Ter1293Trpext stop-loss mutation. The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutations were not found in the dbSNP, ExAC, or gnomAD databases. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 CRANIOECTODERMAL DYSPLASIA 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT122, c.3879A-G
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<br />
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SNP: rs2108740086,
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ClinVar: RCV001797987
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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 c.3879A-G transition (c.3879A-G, NM_052985.2) in exon 31 of the IFT122 gene, resulting in a Ter1293Trpext stop-loss mutation, that was found in compound heterozygous state in a patient with cranioectodermal dysplasia-1 (CED1; 218330) by Yang et al. (2021), see 606045.0009. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cavalcanti, D. P., Huber, C., Sang, K.-H. L. Q., Baujat, G., Collins, F., Delezoide, A.-L., Dagoneau, N., Le Merrer, M., Martinovic, J., Mello, M. F. S., Vekemans, M., Munnich, A., Cormier-Daire, V.
|
|
<strong>Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.</strong>
|
|
J. Med. Genet. 48: 88-92, 2011.
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[PubMed: 19648123]
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[Full Text: https://doi.org/10.1136/jmg.2009.069468]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Claudio, J. O., Liew, C.-C., Ma, J., Heng, H. H. Q., Stewart, A. K., Hawley, R. G.
|
|
<strong>Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13.</strong>
|
|
Genomics 59: 85-89, 1999.
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[PubMed: 10395803]
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[Full Text: https://doi.org/10.1006/geno.1999.5858]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fry, A. E., Klingenberg, C., Matthes, J., Heimdal, K., Hennekam, R C. M., Pilz, D. T.
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<strong>Connective tissue involvement in two patients with features of cranioectodermal dysplasia.</strong>
|
|
Am. J. Med. Genet. 149A: 2212-2215, 2009.
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[PubMed: 19760620]
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[Full Text: https://doi.org/10.1002/ajmg.a.33027]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gross, C., De Baere, E., Lo, A., Chang, W., Messiaen, L.
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<strong>Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.</strong>
|
|
DNA Cell Biol. 20: 41-52, 2001.
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[PubMed: 11242542]
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[Full Text: https://doi.org/10.1089/10445490150504684]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Silveira, K. C., Moreno, C. A., Cavalcanti, D. P.
|
|
<strong>Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.</strong>
|
|
Am. J. Med. Genet. 173A: 1186-1189, 2017.
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[PubMed: 28370949]
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[Full Text: https://doi.org/10.1002/ajmg.a.38157]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Takahara, M., Katoh, Y., Nakamura, K., Hirano, T., Sugawa, M., Tsurumi, Y., Nakayama, K.
|
|
<strong>Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.</strong>
|
|
Hum. Molec. Genet. 27: 516-528, 2018.
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[PubMed: 29220510]
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[Full Text: https://doi.org/10.1093/hmg/ddx421]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R. K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N.
|
|
<strong>Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.</strong>
|
|
Clin. Genet. 85: 592-594, 2014.
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[PubMed: 23826986]
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[Full Text: https://doi.org/10.1111/cge.12215]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W.
|
|
<strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong>
|
|
Am. J. Hum. Genet. 86: 949-956, 2010.
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[PubMed: 20493458]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.04.012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yang, Q., Zhang, Q., Chen, F., Yi, S., Li, M., Yi, S., Xu, X., Luo, J.
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<strong>A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: a case report.</strong>
|
|
Exp. Ther. Med. 21: 311, 2021.
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[PubMed: 33717254]
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[Full Text: https://doi.org/10.3892/etm.2021.9742]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zaffanello, M., Diomedi-Camassei, F., Melzi, M. L., Torre, G., Callea, F., Emma, F.
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<strong>Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.</strong>
|
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Am. J. Med. Genet. 140A: 2336-2340, 2006.
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[PubMed: 17022080]
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[Full Text: https://doi.org/10.1002/ajmg.a.31464]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/22/2021<br>Marla J. F. O'Neill - updated : 10/29/2020<br>Bao Lige - updated : 07/03/2018<br>Marla J. F. O'Neill - updated : 7/12/2011<br>Marla J. F. O'Neill - updated : 7/15/2010
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Carol A. Bocchini : 6/20/2001
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carol : 12/22/2021<br>alopez : 11/02/2020<br>alopez : 10/29/2020<br>carol : 08/09/2019<br>mgross : 07/03/2018<br>mcolton : 02/10/2015<br>wwang : 7/20/2011<br>terry : 7/12/2011<br>carol : 7/15/2010<br>carol : 7/1/2010<br>joanna : 1/22/2004<br>mcapotos : 6/20/2001<br>carol : 6/20/2001<br>carol : 6/20/2001
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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