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Entry
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- *617094 - INTRAFLAGELLAR TRANSPORT 52; IFT52
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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">*617094</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/617094">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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=ENSG00000101052;t=ENST00000373030" 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=51098" 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=617094" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<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=ENSG00000101052;t=ENST00000373030" 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_001303458,NM_001303459,NM_001323578,NM_001323579,NM_001323580,NM_001323581,NM_016004" 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_016004" 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=617094" 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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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/IFT52" 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/4929575,24980824,40031479,56676379,116242524,119596359,119596360,193785547,194377952,743405590,743405623,1021312114,1021312202,1021312204,1021312415" 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/Q9Y366" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=51098" 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=ENSG00000101052;t=ENST00000373030" 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=IFT52" 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=IFT52" 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+51098" 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/IFT52" 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:51098" 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/51098" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000373030.8&hgg_start=43590937&hgg_end=43647299&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 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617094[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=617094[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000101052" 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=IFT52" 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=IFT52" 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=IFT52" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=IFT52&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/PA25796" 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:15901" 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/FBgn0031829.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:2387217" 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/IFT52#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:2387217" 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/51098/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=51098" 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=WBGene00003886;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-040614-3" 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=IFT52&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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617094
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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 52; IFT52
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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 52, CHLAMYDOMONAS, HOMOLOG OF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=IFT52" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IFT52</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/20/306?start=-3&limit=10&highlight=306">20q13.12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:43590937-43647299&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:43,590,937-43,647,299</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/20/306?start=-3&limit=10&highlight=306">
|
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20q13.12
|
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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">
|
|
Short-rib thoracic dysplasia 16 with or without polydactyly
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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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<a href="/entry/617102"> 617102 </a>
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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="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/617094" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/617094" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Intraflagellar transport (IFT) complexes are vital for the functioning of primary cilia. IFT52 encodes a core subunit of the IFT-B complex, which is involved in anterograde transport. Within the IFT-B complex, IFT52 forms a tetrameric subcomplex with IFT88 (<a href="/entry/600595">600595</a>), IFT70, and IFT46 (<a href="/entry/620506">620506</a>) (summary by <a href="#3" class="mim-tip-reference" title="Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A. <strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong> Clin. Genet. 90: 536-539, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26880018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26880018</a>] [<a href="https://doi.org/10.1111/cge.12762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26880018">Girisha et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26880018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A. <strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong> Clin. Genet. 90: 536-539, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26880018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26880018</a>] [<a href="https://doi.org/10.1111/cge.12762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26880018">Girisha et al. (2016)</a> stated that the IFT52 protein contains 437 amino acids and is rich in proline. They noted that IFT52 is evolutionarily conserved from unicellular algae to vertebrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26880018" 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="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> stated that the IFT52 gene maps to chromosome 20q12.13. However, <a href="#4" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 8/30/2016."None>Gross (2016)</a> mapped the IFT52 gene to chromosome 20q13.12 based on an alignment of the IFT52 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF151811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF151811</a>) with the genomic sequence (GRCh38). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27466190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Western blot analysis, <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> found significantly reduced expression of IFT52 in fibroblasts and chondrocytes from a fetus with short-rib polydactyly syndrome (SRPS16; <a href="/entry/617102">617102</a>) and compound heterozygosity for mutations in IFT52. IFT52-deficient SRPS fibroblasts showed significantly reduced expression of the IFT-B complex components IFT74 (<a href="/entry/608040">608040</a>), IFT81 (<a href="/entry/605489">605489</a>), IFT88, and ARL13B (<a href="/entry/608922">608922</a>), indicating that IFT52 is essential for maintenance of the IFT-B core and the overall IFT-B complex. Immunofluorescence microscopy demonstrated an absence of IFT88 expression in basal bodies and cilia tips of IFT52-deficient SRPS cells, revealing that IFT52 is required for anterograde transport. IFT52-deficient SRPS fibroblasts also exhibited reduced cilia abundance and altered cilia morphology. <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> concluded that IFT52 is essential for ciliogenesis, cilia architecture, and IFT-B complex stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27466190" 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 3-year-old Indian girl with a short narrow thorax and postaxial polydactyly (SRTD16; <a href="/entry/617102">617102</a>), <a href="#3" class="mim-tip-reference" title="Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A. <strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong> Clin. Genet. 90: 536-539, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26880018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26880018</a>] [<a href="https://doi.org/10.1111/cge.12762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26880018">Girisha et al. (2016)</a> identified homozygosity for a nonsense mutation in the IFT52 gene (R142X; <a href="#0001">617094.0001</a>). <a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a> demonstrated that the R142X mutation results in exon skipping and a partially functional protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31042281+26880018" 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 fetus from a nonconsanguineous family with features of short-rib thoracic dysplasia without polydactyly, <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> identified compound heterozygosity for a 1-bp deletion (<a href="#0002">617094.0002</a>) and a missense mutation (A199T; <a href="#0003">617094.0003</a>) in the IFT52 gene. The unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27466190" 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 an 11-year-old girl with features of both retinal and skeletal ciliopathy, who exhibited early-onset retinal dystrophy as well as mild SRTD, <a href="#1" class="mim-tip-reference" title="Chen, X., Wang, X., Jiang, C., Xu, M., Liu, Y., Qi, R., Qi, X., Sun, X., Xie, P., Liu, Q., Yan, B., Sheng, X., Zhao, C. <strong>IFT52 as a novel candidate for ciliopathies involving retinal degeneration.</strong> Invest. Ophthal. Vis. Sci. 59: 4581-4589, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30242358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30242358</a>] [<a href="https://doi.org/10.1167/iovs.17-23351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30242358">Chen et al. (2018)</a> identified homozygosity for a missense mutation in the IFT52 gene (T186A; <a href="#0004">617094.0004</a>) that segregated fully with disease in the family and was not found in public variant databases. Functional analysis showed reduced ciliary length with the T186A mutant that was consistent with a loss-of-function mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30242358" 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 targeted exome sequencing for cilia-related genes in 140 individuals from 116 families with SRTD, <a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a> identified 2 fetuses from 1 family that were compound heterozygous for IFT53 mutations: a missense mutation (N98S; <a href="#0005">617094.0005</a>) and an insertion/deletion (<a href="#0006">617094.0006</a>). Functional analysis in zebrafish demonstrated that the mutations impaired IFT-B complex assembly and IFT-B2 ciliary localization, resulting in decreased cilia length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the IFT52 gene and congenital anomalies of the kidney and urinary tract, see <a href="#0007">617094.0007</a>.</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs748090019 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs748090019;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/rs748090019?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=rs748090019" 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=rs748090019" 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=RCV000240043" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240043" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240043</a>
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<p>In a 3-year-old Indian girl with a short, narrow thorax and postaxial polydactyly (SRTD16; <a href="/entry/617102">617102</a>), <a href="#3" class="mim-tip-reference" title="Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A. <strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong> Clin. Genet. 90: 536-539, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26880018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26880018</a>] [<a href="https://doi.org/10.1111/cge.12762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26880018">Girisha et al. (2016)</a> identified homozygosity for a c.424C-T transition (c.424C-T, NM_016004.3) in exon 6 of the IFT52 gene, resulting in an arg142-to-ter (R142X) substitution. The proband's unaffected consanguineous parents were heterozygous for the mutation, which was not found in homozygosity in a local exome database or the 1000 Genomes Project, Exome Variant Server, ExAC, or CentoMD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26880018" 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 RT-PCR in patient fibroblasts and in those of an age-matched control, <a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a> demonstrated that the c.424C-T mutation results in partial skipping of exon 6. Western blot confirmed the expression of a shorter protein corresponding to loss of 24 amino acids. The authors noted that the shorter protein was expressed to a much lower degree than wildtype, whereas the expected truncated protein resulting from R142X was not detected by Western blot. The authors concluded that the c.424C-T mutation results in a partially functioning protein rather than a total loss of IFT52 function. In Ift52 -/- IMCD3 cells, in which primary cilia were absent, expression of the IFT52 mutant lacking exon 6 restored primary cilia but to less-than-normal percentages, and there was a higher proportion of very short cilia compared to wildtype rescue. In addition, coimmunoprecipitation assays showed total abrogation of the interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (<a href="/entry/606621">606621</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886037870 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037870;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=rs886037870" 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=rs886037870" 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=RCV000239845 OR RCV000755168" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239845, RCV000755168" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239845...</a>
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<p>In a fetus from a nonconsanguineous family (R98-277) with features of short-rib thoracic dysplasia without polydactyly (SRTD16; <a href="/entry/617102">617102</a>), <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> identified compound heterozygosity for mutations in the IFT52 gene: a 1-bp deletion (c.878delT) in exon 10, causing a frameshift predicted to result in a premature stop codon (Leu293AlafsTer21); and a c.595G-A transition, resulting in an ala199-to-thr (A199T) substitution at a highly conserved residue. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in public variant databases. RT-PCR of patient fibroblasts revealed significantly reduced levels of IFT52 compared to controls, and analysis of the products showed only sequences derived from the missense allele, suggesting degradation through nonsense-mediated decay of the transcript containing the frameshift variant. In addition, Western blot analysis demonstrated significant reduction of IFT52 protein in both fibroblasts and chondrocytes. <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a> also observed significantly fewer ciliated patient fibroblasts compared to controls, and the average length of cilia was shorter than that in controls; patient cells also exhibited loss of length regulation, with an increased number of both highly shortened and elongated cilia relative to control cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27466190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 16 WITHOUT POLYDACTYLY</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> rs886037869 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886037869;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/rs886037869?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=rs886037869" 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=rs886037869" 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=RCV000240373 OR RCV000755169 OR RCV004719788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000240373, RCV000755169, RCV004719788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000240373...</a>
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<p>For discussion of the c.595G-A transition in the IFT52 gene, resulting in an ala199-to-thr (A199T) substitution, that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia-16 (SRTD16; <a href="/entry/617102">617102</a>) by <a href="#5" class="mim-tip-reference" title="Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H. <strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong> Hum. Molec. Genet. 25: 4012-4020, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddw241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27466190">Zhang et al. (2016)</a>, see <a href="#0002">617094.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27466190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 SHORT-RIB THORACIC DYSPLASIA 16 WITHOUT POLYDACTYLY</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">rs1983651325 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1983651325;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=rs1983651325" 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=rs1983651325" 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=RCV001263448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263448</a>
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<p>In an 11-year-old girl with features of both retinal and skeletal ciliopathy, exhibiting early-onset retinal dystrophy as well as narrow chest, short ribs, and micromelic limbs (SRTD16; <a href="/entry/617102">617102</a>), who was negative for mutation in known retinal degeneration-associated genes, <a href="#1" class="mim-tip-reference" title="Chen, X., Wang, X., Jiang, C., Xu, M., Liu, Y., Qi, R., Qi, X., Sun, X., Xie, P., Liu, Q., Yan, B., Sheng, X., Zhao, C. <strong>IFT52 as a novel candidate for ciliopathies involving retinal degeneration.</strong> Invest. Ophthal. Vis. Sci. 59: 4581-4589, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30242358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30242358</a>] [<a href="https://doi.org/10.1167/iovs.17-23351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30242358">Chen et al. (2018)</a> identified homozygosity for a c.556A-G transition (c.556A-G, NM_016004) in exon 7 of the IFT52 gene, resulting in a thr186-to-ala (T186A) substitution at a highly conserved residue within the GIFT domain. Her unaffected first-cousin parents, maternal grandfather, and paternal grandmother were heterozygous for the mutation, which was not found in her 2 unaffected sibs, 100 unrelated controls, the YanHuang database, or other public variant databases, including ExAC and gnomAD. Immunofluorescence and immunoblot analysis of transfected hTERT-RPE1 cells showed reduced IFT52 expression in mutant cells compared to wildtype. In addition, average ciliary length was markedly reduced in cells overexpressing the T186A mutant compared to wildtype. Reduction in ciliary length was comparable between cells transfected with IFT52 siRNA and those transfected with the T186A mutant, consistent with a loss-of-function mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30242358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs530999984 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs530999984;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/rs530999984?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=rs530999984" 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=rs530999984" 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=RCV001263449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263449</a>
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<p>In 2 fetuses from a family (F1) exhibiting short-rib thoracic dysplasia (SRTD16; <a href="/entry/617102">617102</a>) with polydactyly, <a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a> identified compound heterozygosity for a maternally inherited c.293A-G transition (c.293A-G, NM_016004.2) in exon 4 of the IF52 gene, resulting in an asn98-to-ser (N98S) substitution at a highly conserved residue within the GIFT domain, and a paternally inherited 5-bp deletion/2-bp insertion (c.695_699delinsCA) in exon 8, resulting in an in-frame mutation (Ile232Met233delinsThr). One of the fetuses also had tortuous ureters and left pelviectasis. Functional analysis demonstrated that the N98S mutant did not significantly rescue the ciliopathy phenotypes of body curvature and pronephric cysts in ift52 -/- zebrafish embryos, in contrast to wildtype IFT52; and in Ift52 -/- IMCD3 cells lacking primary cilia, expression of the N98S mutant restored primary cilia to near-normal percentages, but there was a higher proportion of short cilia compared to wildtype rescue. Mass spectrometry analysis showed that significant interactions with proteins of the IFT-B complex were reduced by approximately one-half with the N98S mutant compared to wildtype IFT52, and coimmunoprecipitation assays revealed reduced interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (<a href="/entry/606621">606621</a>) compared to wildtype. In addition, N98S did not rescue the centriole splitting observed in Ift52 -/- cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" 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 SHORT-RIB THORACIC DYSPLASIA 16 WITH POLYDACTYLY</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">rs1984074001 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1984074001;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=rs1984074001" 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=rs1984074001" 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=RCV001263447" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001263447" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001263447</a>
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<p>For discussion of the 5-bp deletion/2-bp insertion (c.695_699delinsCA, NM_016004.2) in exon 8 of the IFT52 gene, resulting in an in-frame mutation (Ile232Met233delinsThr), that was found in compound heterozygous state in 2 fetuses from a family (F1) with short-rib thoracic dysplasia-16 (SRTD16; <a href="/entry/617102">617102</a>) with polydactyly by <a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a>, see <a href="#0005">617094.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" 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 VARIANT OF UNKNOWN SIGNIFICANCE</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> rs149821266 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs149821266;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/rs149821266?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=rs149821266" 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=rs149821266" 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=RCV000887846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000887846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000887846</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to congenital anomalies of the kidney and urinary tract (CAKUT; see <a href="/entry/610805">610805</a>) has not been confirmed.</p><p><a href="#2" class="mim-tip-reference" title="Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others. <strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong> Hum. Molec. Genet. 28: 2720-2737, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>] [<a href="https://doi.org/10.1093/hmg/ddz091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31042281">Dupont et al. (2019)</a> performed whole-exome sequencing in 48 patients from 26 families with CAKUT and identified a fetus from a consanguineous North African family (F2) that was homozygous for a c.775G-C transversion (c.775G-C, NM_016004.2) in the IFT52 gene, resulting in an asp259-to-his (D259H) substitution at a conserved residue. The mutation was present at a minor allele frequency of 0.0004081 in the gnomAD database, including 1 individual who was homozygous for D259H. The affected fetus had bilateral isolated multicystic renal dysplasia, with kidneys that were enlarged to 3 to 4 times the expected size in age-matched controls, showing voluminous cysts distributed in a disorderly way and without differentiated nephron structure. No skeletal defect was reported in the fetus. Two neonatal deaths of unknown cause also occurred in this family. Functional analysis demonstrated that the D259H mutant did not significantly rescue the ciliopathy phenotypes of body curvature and pronephric cysts in ift52 -/- zebrafish embryos, in contrast to wildtype IFT52; and in Ift52 -/- IMCD3 cells lacking primary cilia, expression of the D359H mutant restored primary cilia to near-normal percentages, but there was a higher proportion of short cilia compared to wildtype rescue. Mass spectrometry analysis showed that interactions with subunits of the IFT-B complex appeared to be slightly affected by the D259H mutation, including loss of IFT46 binding, and coimmunoprecipitation assays revealed reduced interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (<a href="/entry/606621">606621</a>) compared to wildtype. In addition, D259H did not rescue the centriole splitting observed in Ift52 -/- cells. Noting that the effects of this mutation appeared to be less severe than the SRTD-associated N98S mutation (<a href="#0005">617094.0005</a>), the authors suggested that this variant may participate in the development of multicystic dysplastic kidneys by interaction with other variants in other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chen2018" class="mim-anchor"></a>
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Chen, X., Wang, X., Jiang, C., Xu, M., Liu, Y., Qi, R., Qi, X., Sun, X., Xie, P., Liu, Q., Yan, B., Sheng, X., Zhao, C.
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<strong>IFT52 as a novel candidate for ciliopathies involving retinal degeneration.</strong>
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Invest. Ophthal. Vis. Sci. 59: 4581-4589, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30242358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30242358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30242358" 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/10.1167/iovs.17-23351" target="_blank">Full Text</a>]
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Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others.
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<strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong>
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Hum. Molec. Genet. 28: 2720-2737, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31042281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31042281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31042281" 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/ddz091" target="_blank">Full Text</a>]
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Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A.
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<strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong>
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Clin. Genet. 90: 536-539, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26880018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26880018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26880018" 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.12762" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/30/2016.
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Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H.
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<strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong>
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Hum. Molec. Genet. 25: 4012-4020, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27466190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27466190</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27466190[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=27466190" 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/ddw241" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 11/02/2020
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Matthew B. Gross - updated : 08/30/2016<br>Marla J. F. O'Neill - updated : 08/30/2016
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Paul J. Converse : 08/25/2016
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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mgross : 09/13/2023
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<span class="mim-text-font">
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alopez : 11/04/2020<br>alopez : 11/02/2020<br>carol : 08/09/2019<br>carol : 01/31/2017<br>mgross : 08/30/2016<br>carol : 08/30/2016<br>carol : 08/30/2016<br>mgross : 08/25/2016
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<span class="mim-font">
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<strong>*</strong> 617094
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<h3>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 52; IFT52
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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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<h4>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 52, CHLAMYDOMONAS, HOMOLOG OF
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IFT52</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 20q13.12
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:43,590,937-43,647,299 </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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</p>
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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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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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20q13.12
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</td>
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<td>
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<span class="mim-font">
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Short-rib thoracic dysplasia 16 with or without polydactyly
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</td>
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<td>
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<span class="mim-font">
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617102
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>Intraflagellar transport (IFT) complexes are vital for the functioning of primary cilia. IFT52 encodes a core subunit of the IFT-B complex, which is involved in anterograde transport. Within the IFT-B complex, IFT52 forms a tetrameric subcomplex with IFT88 (600595), IFT70, and IFT46 (620506) (summary by Girisha et al., 2016). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>Girisha et al. (2016) stated that the IFT52 protein contains 437 amino acids and is rich in proline. They noted that IFT52 is evolutionarily conserved from unicellular algae to vertebrates. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhang et al. (2016) stated that the IFT52 gene maps to chromosome 20q12.13. However, Gross (2016) mapped the IFT52 gene to chromosome 20q13.12 based on an alignment of the IFT52 sequence (GenBank AF151811) with the genomic sequence (GRCh38). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Using Western blot analysis, Zhang et al. (2016) found significantly reduced expression of IFT52 in fibroblasts and chondrocytes from a fetus with short-rib polydactyly syndrome (SRPS16; 617102) and compound heterozygosity for mutations in IFT52. IFT52-deficient SRPS fibroblasts showed significantly reduced expression of the IFT-B complex components IFT74 (608040), IFT81 (605489), IFT88, and ARL13B (608922), indicating that IFT52 is essential for maintenance of the IFT-B core and the overall IFT-B complex. Immunofluorescence microscopy demonstrated an absence of IFT88 expression in basal bodies and cilia tips of IFT52-deficient SRPS cells, revealing that IFT52 is required for anterograde transport. IFT52-deficient SRPS fibroblasts also exhibited reduced cilia abundance and altered cilia morphology. Zhang et al. (2016) concluded that IFT52 is essential for ciliogenesis, cilia architecture, and IFT-B complex stability. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a 3-year-old Indian girl with a short narrow thorax and postaxial polydactyly (SRTD16; 617102), Girisha et al. (2016) identified homozygosity for a nonsense mutation in the IFT52 gene (R142X; 617094.0001). Dupont et al. (2019) demonstrated that the R142X mutation results in exon skipping and a partially functional protein. </p><p>In a fetus from a nonconsanguineous family with features of short-rib thoracic dysplasia without polydactyly, Zhang et al. (2016) identified compound heterozygosity for a 1-bp deletion (617094.0002) and a missense mutation (A199T; 617094.0003) in the IFT52 gene. The unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in public variant databases. </p><p>In an 11-year-old girl with features of both retinal and skeletal ciliopathy, who exhibited early-onset retinal dystrophy as well as mild SRTD, Chen et al. (2018) identified homozygosity for a missense mutation in the IFT52 gene (T186A; 617094.0004) that segregated fully with disease in the family and was not found in public variant databases. Functional analysis showed reduced ciliary length with the T186A mutant that was consistent with a loss-of-function mechanism. </p><p>By targeted exome sequencing for cilia-related genes in 140 individuals from 116 families with SRTD, Dupont et al. (2019) identified 2 fetuses from 1 family that were compound heterozygous for IFT53 mutations: a missense mutation (N98S; 617094.0005) and an insertion/deletion (617094.0006). Functional analysis in zebrafish demonstrated that the mutations impaired IFT-B complex assembly and IFT-B2 ciliary localization, resulting in decreased cilia length. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the IFT52 gene and congenital anomalies of the kidney and urinary tract, see 617094.0007.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dupont et al. (2019) used CRISPR/Cas9 to generated ift52 -/- mutant zebrafish and observed ciliopathy-related phenotypes, including ventral body curvature and kidney cysts at 48 hours postfertilization (hpf). The ift52 -/- embryos lacked cilia in multiciliated organs at 72 hpf, including the olfactive placode and the proximal tubules of the pronephros. Mutant larvae exhibited morphometric alterations of the lower jaw at 4 days postfertilization (dpf), with a reduced distance between the Meckel cartilage and hyoid arches. By qRT-PCR analysis, the authors observed reduced expression of some Hedgehog (see 600725) target genes in mutant heads compared to wildtype or heterozygous zebrafish. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SHORT-RIB THORACIC DYSPLASIA 16 WITH POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT52, ARG142TER
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<br />
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SNP: rs748090019,
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gnomAD: rs748090019,
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ClinVar: RCV000240043
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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 3-year-old Indian girl with a short, narrow thorax and postaxial polydactyly (SRTD16; 617102), Girisha et al. (2016) identified homozygosity for a c.424C-T transition (c.424C-T, NM_016004.3) in exon 6 of the IFT52 gene, resulting in an arg142-to-ter (R142X) substitution. The proband's unaffected consanguineous parents were heterozygous for the mutation, which was not found in homozygosity in a local exome database or the 1000 Genomes Project, Exome Variant Server, ExAC, or CentoMD databases. </p><p>By RT-PCR in patient fibroblasts and in those of an age-matched control, Dupont et al. (2019) demonstrated that the c.424C-T mutation results in partial skipping of exon 6. Western blot confirmed the expression of a shorter protein corresponding to loss of 24 amino acids. The authors noted that the shorter protein was expressed to a much lower degree than wildtype, whereas the expected truncated protein resulting from R142X was not detected by Western blot. The authors concluded that the c.424C-T mutation results in a partially functioning protein rather than a total loss of IFT52 function. In Ift52 -/- IMCD3 cells, in which primary cilia were absent, expression of the IFT52 mutant lacking exon 6 restored primary cilia but to less-than-normal percentages, and there was a higher proportion of very short cilia compared to wildtype rescue. In addition, coimmunoprecipitation assays showed total abrogation of the interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (606621). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 16 WITHOUT POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT52, 1-BP DEL, 878T
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<br />
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SNP: rs886037870,
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ClinVar: RCV000239845, RCV000755168
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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 fetus from a nonconsanguineous family (R98-277) with features of short-rib thoracic dysplasia without polydactyly (SRTD16; 617102), Zhang et al. (2016) identified compound heterozygosity for mutations in the IFT52 gene: a 1-bp deletion (c.878delT) in exon 10, causing a frameshift predicted to result in a premature stop codon (Leu293AlafsTer21); and a c.595G-A transition, resulting in an ala199-to-thr (A199T) substitution at a highly conserved residue. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in public variant databases. RT-PCR of patient fibroblasts revealed significantly reduced levels of IFT52 compared to controls, and analysis of the products showed only sequences derived from the missense allele, suggesting degradation through nonsense-mediated decay of the transcript containing the frameshift variant. In addition, Western blot analysis demonstrated significant reduction of IFT52 protein in both fibroblasts and chondrocytes. Zhang et al. (2016) also observed significantly fewer ciliated patient fibroblasts compared to controls, and the average length of cilia was shorter than that in controls; patient cells also exhibited loss of length regulation, with an increased number of both highly shortened and elongated cilia relative to control cells. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SHORT-RIB THORACIC DYSPLASIA 16 WITHOUT POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT52, ALA199THR
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<br />
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SNP: rs886037869,
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gnomAD: rs886037869,
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ClinVar: RCV000240373, RCV000755169, RCV004719788
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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.595G-A transition in the IFT52 gene, resulting in an ala199-to-thr (A199T) substitution, that was found in compound heterozygous state in a fetus with short-rib thoracic dysplasia-16 (SRTD16; 617102) by Zhang et al. (2016), see 617094.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SHORT-RIB THORACIC DYSPLASIA 16 WITHOUT POLYDACTYLY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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IFT52, THR186ALA
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<br />
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SNP: rs1983651325,
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ClinVar: RCV001263448
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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 an 11-year-old girl with features of both retinal and skeletal ciliopathy, exhibiting early-onset retinal dystrophy as well as narrow chest, short ribs, and micromelic limbs (SRTD16; 617102), who was negative for mutation in known retinal degeneration-associated genes, Chen et al. (2018) identified homozygosity for a c.556A-G transition (c.556A-G, NM_016004) in exon 7 of the IFT52 gene, resulting in a thr186-to-ala (T186A) substitution at a highly conserved residue within the GIFT domain. Her unaffected first-cousin parents, maternal grandfather, and paternal grandmother were heterozygous for the mutation, which was not found in her 2 unaffected sibs, 100 unrelated controls, the YanHuang database, or other public variant databases, including ExAC and gnomAD. Immunofluorescence and immunoblot analysis of transfected hTERT-RPE1 cells showed reduced IFT52 expression in mutant cells compared to wildtype. In addition, average ciliary length was markedly reduced in cells overexpressing the T186A mutant compared to wildtype. Reduction in ciliary length was comparable between cells transfected with IFT52 siRNA and those transfected with the T186A mutant, consistent with a loss-of-function mechanism. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 SHORT-RIB THORACIC DYSPLASIA 16 WITH POLYDACTYLY</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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IFT52, ASN98SER
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<br />
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SNP: rs530999984,
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gnomAD: rs530999984,
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ClinVar: RCV001263449
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<p>In 2 fetuses from a family (F1) exhibiting short-rib thoracic dysplasia (SRTD16; 617102) with polydactyly, Dupont et al. (2019) identified compound heterozygosity for a maternally inherited c.293A-G transition (c.293A-G, NM_016004.2) in exon 4 of the IF52 gene, resulting in an asn98-to-ser (N98S) substitution at a highly conserved residue within the GIFT domain, and a paternally inherited 5-bp deletion/2-bp insertion (c.695_699delinsCA) in exon 8, resulting in an in-frame mutation (Ile232Met233delinsThr). One of the fetuses also had tortuous ureters and left pelviectasis. Functional analysis demonstrated that the N98S mutant did not significantly rescue the ciliopathy phenotypes of body curvature and pronephric cysts in ift52 -/- zebrafish embryos, in contrast to wildtype IFT52; and in Ift52 -/- IMCD3 cells lacking primary cilia, expression of the N98S mutant restored primary cilia to near-normal percentages, but there was a higher proportion of short cilia compared to wildtype rescue. Mass spectrometry analysis showed that significant interactions with proteins of the IFT-B complex were reduced by approximately one-half with the N98S mutant compared to wildtype IFT52, and coimmunoprecipitation assays revealed reduced interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (606621) compared to wildtype. In addition, N98S did not rescue the centriole splitting observed in Ift52 -/- cells. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0006 SHORT-RIB THORACIC DYSPLASIA 16 WITH POLYDACTYLY</strong>
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</h4>
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<span class="mim-text-font">
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IFT52, 5-BP DEL/2-BP INS, NT695
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<br />
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SNP: rs1984074001,
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ClinVar: RCV001263447
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</span>
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<span class="mim-text-font">
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<p>For discussion of the 5-bp deletion/2-bp insertion (c.695_699delinsCA, NM_016004.2) in exon 8 of the IFT52 gene, resulting in an in-frame mutation (Ile232Met233delinsThr), that was found in compound heterozygous state in 2 fetuses from a family (F1) with short-rib thoracic dysplasia-16 (SRTD16; 617102) with polydactyly by Dupont et al. (2019), see 617094.0005. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 VARIANT OF UNKNOWN SIGNIFICANCE</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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IFT52, ASP259HIS
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<br />
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SNP: rs149821266,
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gnomAD: rs149821266,
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ClinVar: RCV000887846
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) has not been confirmed.</p><p>Dupont et al. (2019) performed whole-exome sequencing in 48 patients from 26 families with CAKUT and identified a fetus from a consanguineous North African family (F2) that was homozygous for a c.775G-C transversion (c.775G-C, NM_016004.2) in the IFT52 gene, resulting in an asp259-to-his (D259H) substitution at a conserved residue. The mutation was present at a minor allele frequency of 0.0004081 in the gnomAD database, including 1 individual who was homozygous for D259H. The affected fetus had bilateral isolated multicystic renal dysplasia, with kidneys that were enlarged to 3 to 4 times the expected size in age-matched controls, showing voluminous cysts distributed in a disorderly way and without differentiated nephron structure. No skeletal defect was reported in the fetus. Two neonatal deaths of unknown cause also occurred in this family. Functional analysis demonstrated that the D259H mutant did not significantly rescue the ciliopathy phenotypes of body curvature and pronephric cysts in ift52 -/- zebrafish embryos, in contrast to wildtype IFT52; and in Ift52 -/- IMCD3 cells lacking primary cilia, expression of the D359H mutant restored primary cilia to near-normal percentages, but there was a higher proportion of short cilia compared to wildtype rescue. Mass spectrometry analysis showed that interactions with subunits of the IFT-B complex appeared to be slightly affected by the D259H mutation, including loss of IFT46 binding, and coimmunoprecipitation assays revealed reduced interaction between the mutant protein and IFT52 direct partners IFT38 and IFT57 (606621) compared to wildtype. In addition, D259H did not rescue the centriole splitting observed in Ift52 -/- cells. Noting that the effects of this mutation appeared to be less severe than the SRTD-associated N98S mutation (617094.0005), the authors suggested that this variant may participate in the development of multicystic dysplastic kidneys by interaction with other variants in other genes. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chen, X., Wang, X., Jiang, C., Xu, M., Liu, Y., Qi, R., Qi, X., Sun, X., Xie, P., Liu, Q., Yan, B., Sheng, X., Zhao, C.
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<strong>IFT52 as a novel candidate for ciliopathies involving retinal degeneration.</strong>
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Invest. Ophthal. Vis. Sci. 59: 4581-4589, 2018.
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[PubMed: 30242358]
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[Full Text: https://doi.org/10.1167/iovs.17-23351]
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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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Dupont, M. A., Humbert, C., Huber, C., Siour, Q., Guerrera, I. C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschke, P., Injeyan, M., Millar, K., and 11 others.
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<strong>Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.</strong>
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Hum. Molec. Genet. 28: 2720-2737, 2019.
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[PubMed: 31042281]
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[Full Text: https://doi.org/10.1093/hmg/ddz091]
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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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Girisha, K. M., Shukla, A., Trujillano, D., Bhavani, G. S., Hebbar, M., Kadavigere, R., Rolfs, A.
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<strong>A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.</strong>
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Clin. Genet. 90: 536-539, 2016.
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[PubMed: 26880018]
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[Full Text: https://doi.org/10.1111/cge.12762]
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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, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/30/2016.
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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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Zhang, W., Taylor, S. P., Nevarez, L., Lachman, R. S., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics Consortium, Krakow, D., Cohn, D. H.
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<strong>IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.</strong>
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Hum. Molec. Genet. 25: 4012-4020, 2016.
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[PubMed: 27466190]
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[Full Text: https://doi.org/10.1093/hmg/ddw241]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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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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Marla J. F. O'Neill - updated : 11/02/2020<br>Matthew B. Gross - updated : 08/30/2016<br>Marla J. F. O'Neill - updated : 08/30/2016
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</span>
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</div>
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Paul J. Converse : 08/25/2016
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mgross : 09/13/2023<br>alopez : 11/04/2020<br>alopez : 11/02/2020<br>carol : 08/09/2019<br>carol : 01/31/2017<br>mgross : 08/30/2016<br>carol : 08/30/2016<br>carol : 08/30/2016<br>mgross : 08/25/2016
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