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Entry
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- *614068 - INTRAFLAGELLAR TRANSPORT 43; IFT43
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- OMIM
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<p>
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<span class="h4">*614068</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614068">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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=ENSG00000119650;t=ENST00000314067" 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=112752" 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=614068" 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 id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000119650;t=ENST00000314067" 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_001102564,NM_001255995,NM_052873,NR_045664,NR_045665" 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_001102564" 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=614068" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/IFT43" 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/3928928,6067152,14714598,119601647,119601652,119601654,156523262,156523264,193786975,194381066,334302894,364502979" 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/Q96FT9" 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 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=112752" 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=ENSG00000119650;t=ENST00000314067" 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=IFT43" 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=IFT43" 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+112752" 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/IFT43" 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:112752" 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/112752" 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=chr14&hgg_gene=ENST00000314067.11&hgg_start=75985763&hgg_end=76084073&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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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29669" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ift43" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614068[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=614068[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/ENSG00000119650" 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=IFT43" 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=IFT43" 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=IFT43" 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=IFT43&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/PA145149677" 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:29669" 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/FBgn0032446.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:1923661" 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/IFT43#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:1923661" 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/112752/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=112752" 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://zfin.org/ZDB-GENE-111020-13" 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=IFT43&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>
|
|
614068
|
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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 43; IFT43
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
INTRAFLAGELLAR TRANSPORT 43, CHLAMYDOMONAS, HOMOLOG OF<br />
|
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CHROMOSOME 14 OPEN READING FRAME 179; C14ORF179
|
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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=IFT43" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IFT43</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/14/406?start=-3&limit=10&highlight=406">14q24.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:75985763-76084073&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'})">14:75,985,763-76,084,073</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
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</div>
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<div>
|
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<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<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>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614099,617871,617866" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/406?start=-3&limit=10&highlight=406">
|
|
14q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Cranioectodermal dysplasia 3
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614099"> 614099 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
</span>
|
|
</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
?Retinitis pigmentosa 81
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617871"> 617871 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Short-rib thoracic dysplasia 18 with polydactyly
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617866"> 617866 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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</tbody>
|
|
</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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<p>IFT43 is a subunit of intraflagellar transport complex A (IFTA). IFTA is involved in retrograde ciliary transport along axonemal microtubules (summary by <a href="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378380" 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="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al. (2011)</a> reported that alternative splicing of human IFT43 produces 2 major protein isoforms. The 2 isoforms contain 213 and 208 amino acids and differ only in a central region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378380" 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 of ocular tissues in a 2-month-old mouse, <a href="#2" class="mim-tip-reference" title="Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. <strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong> Hum. Molec. Genet. 26: 4741-4751, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973684</a>] [<a href="https://doi.org/10.1093/hmg/ddx356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973684">Biswas et al. (2017)</a> observed high expression of IFT43 in the retina and minimal expression in the retinal pigment epithelium. Immunohistochemical analysis of IFT43 in mouse and human retinal tissue showed that IFT43 is localized predominantly to the photoreceptor outer segment region, with no significant expression in other layers of the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973684" 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="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al. (2011)</a> reported that the IFT43 gene contains 10 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378380" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 6/29/2011."None>Gross (2011)</a> mapped the IFT43 gene to chromosome 14q24.3 based on an alignment of the IFT43 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC010436" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC010436</a>) with the genomic sequence (GRCh37).</p>
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<p><strong><em>Cranioectodermal Dysplasia 3</em></strong></p><p>
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In a brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia mapping to chromosome 14 (CED3; <a href="/entry/614099">614099</a>), <a href="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al. (2011)</a> analyzed 2 candidate genes and identified homozygosity for a missense mutation in the translation initiation codon of the IFT43 gene (M1V; <a href="#0001">614068.0001</a>). Analysis of fibroblasts from 1 of the sibs and from a previously studied patient (<a href="#4" class="mim-tip-reference" title="Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., Roepman, R., Knoers, N. V. A. M., Veltman, J. A., Brunner, H. G. <strong>Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.</strong> Am. J. Hum. Genet. 87: 418-423, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817137</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20817137[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20817137">Gilissen et al., 2010</a>) with CED2 (<a href="/entry/613610">613610</a>) and mutations in WDR35 (<a href="/entry/613602">613602</a>) showed similar ciliary defects, with accumulation of IFTB-complex proteins in the distal part of the ciliary axoneme and in the ciliary tip, whereas in the cilia of control fibroblasts, those proteins were less abundant and primarily located at the basal body and transition zone. Cilia in mutant IFT43 fibroblasts were also somewhat shorter than those of control fibroblasts, as had been previously reported (<a href="#6" class="mim-tip-reference" title="Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W. <strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong> Am. J. Hum. Genet. 86: 949-956, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20493458">Walczak-Sztulpa et al., 2010</a>) in patients with CED1 (<a href="/entry/218330">218330</a>) and mutations in IFT122 (<a href="/entry/606045">606045</a>). <a href="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al. (2011)</a> concluded that CED results from defects in retrograde intraflagellar transport due to disruption of the IFTA protein complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20817137+21378380+20493458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Short-Rib Thoracic Dysplasia 18 with Polydactyly</em></strong></p><p>
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In 3 affected individuals from 2 unrelated families with short-rib thoracic dysplasia with polydactyly (SRTD18; <a href="/entry/617866">617866</a>), <a href="#3" class="mim-tip-reference" title="Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D. <strong>Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.</strong> Cilia 6: 7, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28400947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28400947</a>] [<a href="https://doi.org/10.1186/s13630-017-0051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28400947">Duran et al. (2017)</a> identified homozygosity for missense mutations in the IFT143 gene, M1K (<a href="#0002">614068.0002</a>) and W179R (<a href="#0003">614068.0003</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28400947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 81</em></strong></p><p>
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In a large consanguineous Pakistani family with nonsyndromic early-onset retinal degeneration (RP81; <a href="/entry/617871">617871</a>), <a href="#2" class="mim-tip-reference" title="Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. <strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong> Hum. Molec. Genet. 26: 4741-4751, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973684</a>] [<a href="https://doi.org/10.1093/hmg/ddx356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973684">Biswas et al. (2017)</a> identified homozygosity for a missense mutation in the IFT43 gene (E34K; <a href="#0004">614068.0004</a>) that segregated fully with disease and was not found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973684" 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">rs387907107 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907107;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=rs387907107" 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=rs387907107" 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=RCV000024093 OR RCV001852564" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024093, RCV001852564" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024093...</a>
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<p>In an affected brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia-3 (CED3; <a href="/entry/614099">614099</a>), <a href="#1" class="mim-tip-reference" title="Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R. <strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong> J. Med. Genet. 48: 390-395, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>] [<a href="https://doi.org/10.1136/jmg.2011.088864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21378380">Arts et al. (2011)</a> identified homozygosity for a 1A-G transition at the translation initiation codon of the IFT43 gene, resulting in a met1-to-val (M1V) substitution. The unaffected first-cousin parents were heterozygous for the mutation, which was not found in 192 Dutch or 122 Moroccan control alleles. Western blot analysis revealed that the mutant IFT43 protein had a molecular mass that was approximately 3 kD lower than wildtype, consistent with translation initiation in exon 2, at the next available ATG initiation codon of the coding sequence, resulting in an N-terminal deletion of 21 amino acids in the same open reading frame. Patient fibroblasts showed accumulation of IFTB complex proteins in the distal part of the ciliary axoneme and in the ciliary tip, whereas in the cilia of control fibroblasts, those proteins were less abundant and primarily located at the basal body and transition zone; the mutant cilia were also somewhat shorter than those of controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 18 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"><span class="text-primary">●</span> rs769724508 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs769724508;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/rs769724508?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=rs769724508" 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=rs769724508" 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=RCV000578472 OR RCV000851214 OR RCV001206016" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000578472, RCV000851214, RCV001206016" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000578472...</a>
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<p>In 2 sibs with short-rib thoracic dysplasia with polydactyly (SRTD18; <a href="/entry/617866">617866</a>), <a href="#3" class="mim-tip-reference" title="Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D. <strong>Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.</strong> Cilia 6: 7, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28400947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28400947</a>] [<a href="https://doi.org/10.1186/s13630-017-0051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28400947">Duran et al. (2017)</a> identified homozygosity for a c.2T-A transversion in the IFT43 gene, resulting in a met1-to-lys (M1K) substitution. Their unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. One sib (R06-303A), who was born of a dizygotic twin pregnancy at 30 weeks' gestation, died on the second day of life; a second pregnancy (R06-303E) was interrupted at 18 weeks' gestation due to findings on prenatal ultrasound. Although cDNA levels were similar in mutant and control cells, analysis of amniocytes from patient R06-303A showed absence of IFT43, suggesting that the M1K mutation alters synthesis and/or stability of the protein and not gene expression. In addition, protein levels of IFT-A core member IFT144 (WDR19; <a href="/entry/608151">608151</a>) were increased in mutant cells. Histologic analysis of distal femur growth plates from R06-303A showed a significantly abnormal pattern of proliferation and differentiation of chondrocytes extending from the reserve through the hypertrophic zones, including disruption of the polarity of the proliferating cells, with columns of chondrons showing more than one plane of division. The hypertrophic zones were irregular, reflecting the disrupted column formation, and there were decreased numbers of hypertrophic cells and lack of the normal progressive enlargement of hypertrophic chondrocytes. Retained rests of cartilage within the primary spongiosum suggested that there may be altered cartilage-to-bone transition at the distal end of the growth plate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28400947" 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 18 WITH POLYDACTYLY</strong>
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IFT43, TRP179ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555369050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555369050;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=rs1555369050" 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=rs1555369050" 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=RCV000578473 OR RCV000851215" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000578473, RCV000851215" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000578473...</a>
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<p>In a female infant (R03-121A) with short-rib thoracic dysplasia with polydactyly (SRTD18; <a href="/entry/617866">617866</a>), <a href="#3" class="mim-tip-reference" title="Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D. <strong>Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.</strong> Cilia 6: 7, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28400947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28400947</a>] [<a href="https://doi.org/10.1186/s13630-017-0051-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28400947">Duran et al. (2017)</a> identified homozygosity for a c.535T-C transition in the IFT43 gene, resulting in a trp179-to-arg (W179R) substitution at a highly conserved residue within a highly conserved region of IFT43. Her unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Although cDNA levels were similar in mutant and control cells, analysis of patient fibroblasts showed a significantly reduced amount of IFT43, suggesting that the W179R mutation alters synthesis and/or stability of the protein and not gene expression. In addition, protein levels of IFT-A core member IFT144 (WDR19; <a href="/entry/608151">608151</a>) were increased in mutant cells. Induction of cilia formation revealed that cilia were absent in mutant fibroblasts compared to controls. Histologic analysis of distal femur growth plates from R03-121A showed a significantly abnormal pattern of proliferation and differentiation of chondrocytes extending from the reserve through the hypertrophic zones, including disruption of the polarity of the proliferating cells, with columns of chondrons showing more than one plane of division. The hypertrophic zones were irregular, reflecting the disrupted column formation, and there were decreased numbers of hypertrophic cells and lack of the normal progressive enlargement of hypertrophic chondrocytes. Retained rests of cartilage within the primary spongiosum suggested that there may be altered cartilage-to-bone transition at the distal end of the growth plate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28400947" 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> rs140366557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs140366557;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/rs140366557?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=rs140366557" 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=rs140366557" 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=RCV000579001 OR RCV001215266" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000579001, RCV001215266" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000579001...</a>
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<p>In 9 affected members of a large consanguineous Pakistani family (PKRD272) with nonsyndromic early-onset retinal degeneration (RP81; <a href="/entry/617871">617871</a>), <a href="#2" class="mim-tip-reference" title="Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. <strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong> Hum. Molec. Genet. 26: 4741-4751, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973684</a>] [<a href="https://doi.org/10.1093/hmg/ddx356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973684">Biswas et al. (2017)</a> identified homozygosity for a c.100G-A transition in the IFT43 gene, resulting in a glu34-to-lys (E34K) substitution at a residue within a highly conserved domain. The mutation segregated fully with disease in the family and was not found in 150 ethnicity-matched controls or in 800 other controls. Transfected mIMCD3 cells showed significantly shorter cilia lengths with the E34K mutant than with wildtype IFT43; staining for acetylated tubulin and IFT88 (<a href="/entry/600595">600595</a>) showed shorter to no signal for ciliary structures and colocalization of IFT88 with acetylated tubulin signals in cells transfected with mutant IFT43, whereas IFT88 localized to the basal bodies and distal tip of cilia in wildtype cells. Similar results were obtained in transfected MDCK cells. Western blot analysis of transfected cells showed an increased amount of protein in the mutant lane compared to wildtype, indicating possible formation of higher molecular weight aggregates with accumulation of mutant protein in cells expressing E34K. <a href="#2" class="mim-tip-reference" title="Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R. <strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong> Hum. Molec. Genet. 26: 4741-4751, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973684</a>] [<a href="https://doi.org/10.1093/hmg/ddx356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973684">Biswas et al. (2017)</a> suggested that the E34K mutation disrupts the intraflagellar transport machinery causing abnormal cilium structure and/or affects ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973684" 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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Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R.
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<strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong>
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J. Med. Genet. 48: 390-395, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21378380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21378380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21378380" 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/10.1136/jmg.2011.088864" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R.
|
|
<strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong>
|
|
Hum. Molec. Genet. 26: 4741-4751, 2017.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973684" 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/ddx356" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Duran2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D.
|
|
<strong>Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.</strong>
|
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Cilia 6: 7, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28400947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28400947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28400947" 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/10.1186/s13630-017-0051-y" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Gilissen2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., Roepman, R., Knoers, N. V. A. M., Veltman, J. A., Brunner, H. G.
|
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<strong>Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.</strong>
|
|
Am. J. Hum. Genet. 87: 418-423, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20817137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20817137</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20817137[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=20817137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.08.004" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Gross2011" class="mim-anchor"></a>
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<div class="">
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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. 6/29/2011.
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Walczak-Sztulpa2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W.
|
|
<strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong>
|
|
Am. J. Hum. Genet. 86: 949-956, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20493458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20493458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20493458[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20493458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.04.012" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/05/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 7/13/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross : 6/29/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/09/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/08/2018<br>carol : 02/06/2018<br>carol : 02/05/2018<br>wwang : 07/19/2011<br>terry : 7/13/2011<br>mgross : 6/29/2011
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 614068
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 43; IFT43
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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INTRAFLAGELLAR TRANSPORT 43, CHLAMYDOMONAS, HOMOLOG OF<br />
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CHROMOSOME 14 OPEN READING FRAME 179; C14ORF179
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IFT43</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 14q24.3
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:75,985,763-76,084,073 </span>
|
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</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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|
Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
|
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<span class="mim-font">
|
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14q24.3
|
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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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?Cranioectodermal dysplasia 3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
614099
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
?Retinitis pigmentosa 81
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
617871
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
Short-rib thoracic dysplasia 18 with polydactyly
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
617866
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>IFT43 is a subunit of intraflagellar transport complex A (IFTA). IFTA is involved in retrograde ciliary transport along axonemal microtubules (summary by Arts et al., 2011). </p>
|
|
</span>
|
|
<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Arts et al. (2011) reported that alternative splicing of human IFT43 produces 2 major protein isoforms. The 2 isoforms contain 213 and 208 amino acids and differ only in a central region. </p><p>By RT-PCR of ocular tissues in a 2-month-old mouse, Biswas et al. (2017) observed high expression of IFT43 in the retina and minimal expression in the retinal pigment epithelium. Immunohistochemical analysis of IFT43 in mouse and human retinal tissue showed that IFT43 is localized predominantly to the photoreceptor outer segment region, with no significant expression in other layers of the retina. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Arts et al. (2011) reported that the IFT43 gene contains 10 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gross (2011) mapped the IFT43 gene to chromosome 14q24.3 based on an alignment of the IFT43 sequence (GenBank BC010436) with the genomic sequence (GRCh37).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p><strong><em>Cranioectodermal Dysplasia 3</em></strong></p><p>
|
|
In a brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia mapping to chromosome 14 (CED3; 614099), Arts et al. (2011) analyzed 2 candidate genes and identified homozygosity for a missense mutation in the translation initiation codon of the IFT43 gene (M1V; 614068.0001). Analysis of fibroblasts from 1 of the sibs and from a previously studied patient (Gilissen et al., 2010) with CED2 (613610) and mutations in WDR35 (613602) showed similar ciliary defects, with accumulation of IFTB-complex proteins in the distal part of the ciliary axoneme and in the ciliary tip, whereas in the cilia of control fibroblasts, those proteins were less abundant and primarily located at the basal body and transition zone. Cilia in mutant IFT43 fibroblasts were also somewhat shorter than those of control fibroblasts, as had been previously reported (Walczak-Sztulpa et al., 2010) in patients with CED1 (218330) and mutations in IFT122 (606045). Arts et al. (2011) concluded that CED results from defects in retrograde intraflagellar transport due to disruption of the IFTA protein complex. </p><p><strong><em>Short-Rib Thoracic Dysplasia 18 with Polydactyly</em></strong></p><p>
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In 3 affected individuals from 2 unrelated families with short-rib thoracic dysplasia with polydactyly (SRTD18; 617866), Duran et al. (2017) identified homozygosity for missense mutations in the IFT143 gene, M1K (614068.0002) and W179R (614068.0003), respectively. </p><p><strong><em>Retinitis Pigmentosa 81</em></strong></p><p>
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In a large consanguineous Pakistani family with nonsyndromic early-onset retinal degeneration (RP81; 617871), Biswas et al. (2017) identified homozygosity for a missense mutation in the IFT43 gene (E34K; 614068.0004) that segregated fully with disease and was not found in controls. </p>
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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>4 Selected Examples):</strong>
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</h4>
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<p />
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<span class="mim-font">
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<strong>.0001 CRANIOECTODERMAL DYSPLASIA 3 (1 family)</strong>
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</span>
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</h4>
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IFT43, MET1VAL
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<br />
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SNP: rs387907107,
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ClinVar: RCV000024093, RCV001852564
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<p>In an affected brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia-3 (CED3; 614099), Arts et al. (2011) identified homozygosity for a 1A-G transition at the translation initiation codon of the IFT43 gene, resulting in a met1-to-val (M1V) substitution. The unaffected first-cousin parents were heterozygous for the mutation, which was not found in 192 Dutch or 122 Moroccan control alleles. Western blot analysis revealed that the mutant IFT43 protein had a molecular mass that was approximately 3 kD lower than wildtype, consistent with translation initiation in exon 2, at the next available ATG initiation codon of the coding sequence, resulting in an N-terminal deletion of 21 amino acids in the same open reading frame. Patient fibroblasts showed accumulation of IFTB complex proteins in the distal part of the ciliary axoneme and in the ciliary tip, whereas in the cilia of control fibroblasts, those proteins were less abundant and primarily located at the basal body and transition zone; the mutant cilia were also somewhat shorter than those of controls. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 SHORT-RIB THORACIC DYSPLASIA 18 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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IFT43, MET1LYS
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<br />
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SNP: rs769724508,
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gnomAD: rs769724508,
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ClinVar: RCV000578472, RCV000851214, RCV001206016
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<p>In 2 sibs with short-rib thoracic dysplasia with polydactyly (SRTD18; 617866), Duran et al. (2017) identified homozygosity for a c.2T-A transversion in the IFT43 gene, resulting in a met1-to-lys (M1K) substitution. Their unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. One sib (R06-303A), who was born of a dizygotic twin pregnancy at 30 weeks' gestation, died on the second day of life; a second pregnancy (R06-303E) was interrupted at 18 weeks' gestation due to findings on prenatal ultrasound. Although cDNA levels were similar in mutant and control cells, analysis of amniocytes from patient R06-303A showed absence of IFT43, suggesting that the M1K mutation alters synthesis and/or stability of the protein and not gene expression. In addition, protein levels of IFT-A core member IFT144 (WDR19; 608151) were increased in mutant cells. Histologic analysis of distal femur growth plates from R06-303A showed a significantly abnormal pattern of proliferation and differentiation of chondrocytes extending from the reserve through the hypertrophic zones, including disruption of the polarity of the proliferating cells, with columns of chondrons showing more than one plane of division. The hypertrophic zones were irregular, reflecting the disrupted column formation, and there were decreased numbers of hypertrophic cells and lack of the normal progressive enlargement of hypertrophic chondrocytes. Retained rests of cartilage within the primary spongiosum suggested that there may be altered cartilage-to-bone transition at the distal end of the growth plate. </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>.0003 SHORT-RIB THORACIC DYSPLASIA 18 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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IFT43, TRP179ARG
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<br />
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SNP: rs1555369050,
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ClinVar: RCV000578473, RCV000851215
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female infant (R03-121A) with short-rib thoracic dysplasia with polydactyly (SRTD18; 617866), Duran et al. (2017) identified homozygosity for a c.535T-C transition in the IFT43 gene, resulting in a trp179-to-arg (W179R) substitution at a highly conserved residue within a highly conserved region of IFT43. Her unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Although cDNA levels were similar in mutant and control cells, analysis of patient fibroblasts showed a significantly reduced amount of IFT43, suggesting that the W179R mutation alters synthesis and/or stability of the protein and not gene expression. In addition, protein levels of IFT-A core member IFT144 (WDR19; 608151) were increased in mutant cells. Induction of cilia formation revealed that cilia were absent in mutant fibroblasts compared to controls. Histologic analysis of distal femur growth plates from R03-121A showed a significantly abnormal pattern of proliferation and differentiation of chondrocytes extending from the reserve through the hypertrophic zones, including disruption of the polarity of the proliferating cells, with columns of chondrons showing more than one plane of division. The hypertrophic zones were irregular, reflecting the disrupted column formation, and there were decreased numbers of hypertrophic cells and lack of the normal progressive enlargement of hypertrophic chondrocytes. Retained rests of cartilage within the primary spongiosum suggested that there may be altered cartilage-to-bone transition at the distal end of the growth plate. </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 RETINITIS PIGMENTOSA 81 (1 family)</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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IFT43, GLU34LYS
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<br />
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SNP: rs140366557,
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gnomAD: rs140366557,
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ClinVar: RCV000579001, RCV001215266
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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 9 affected members of a large consanguineous Pakistani family (PKRD272) with nonsyndromic early-onset retinal degeneration (RP81; 617871), Biswas et al. (2017) identified homozygosity for a c.100G-A transition in the IFT43 gene, resulting in a glu34-to-lys (E34K) substitution at a residue within a highly conserved domain. The mutation segregated fully with disease in the family and was not found in 150 ethnicity-matched controls or in 800 other controls. Transfected mIMCD3 cells showed significantly shorter cilia lengths with the E34K mutant than with wildtype IFT43; staining for acetylated tubulin and IFT88 (600595) showed shorter to no signal for ciliary structures and colocalization of IFT88 with acetylated tubulin signals in cells transfected with mutant IFT43, whereas IFT88 localized to the basal bodies and distal tip of cilia in wildtype cells. Similar results were obtained in transfected MDCK cells. Western blot analysis of transfected cells showed an increased amount of protein in the mutant lane compared to wildtype, indicating possible formation of higher molecular weight aggregates with accumulation of mutant protein in cells expressing E34K. Biswas et al. (2017) suggested that the E34K mutation disrupts the intraflagellar transport machinery causing abnormal cilium structure and/or affects ciliogenesis. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arts, H. H., Bongers, E. M. H. F., Mans, D. A., van Beersum, S. E. C., Oud, M. M., Bolat, E., Spruijt, L., Cornelissen, E. A. M., Schuurs-Hoeijmakers, J. H. M., de Leeuw, N., Cormier-Daire, V., Brunner, H. G., Knoers, N. V. A. M., Roepman, R.
|
|
<strong>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.</strong>
|
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J. Med. Genet. 48: 390-395, 2011.
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[PubMed: 21378380]
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[Full Text: https://doi.org/10.1136/jmg.2011.088864]
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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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Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, J. F., Riazuddin, S. A., Ayyagari, R.
|
|
<strong>A mutation in IFT43 causes non-syndromic recessive retinal degeneration.</strong>
|
|
Hum. Molec. Genet. 26: 4741-4751, 2017.
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[PubMed: 28973684]
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[Full Text: https://doi.org/10.1093/hmg/ddx356]
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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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Duran, I., Taylor, S. P., Zhang, W., Martin, J., Qureshi, F., Jacques, S. M., Wallerstein, R., Lachman, R. S., Nickerson, D. A., Bamshad, M., Cohn, D. H., Krakow, D.
|
|
<strong>Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.</strong>
|
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Cilia 6: 7, 2017. Note: Electronic Article.
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[PubMed: 28400947]
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[Full Text: https://doi.org/10.1186/s13630-017-0051-y]
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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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Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., Roepman, R., Knoers, N. V. A. M., Veltman, J. A., Brunner, H. G.
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<strong>Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.</strong>
|
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Am. J. Hum. Genet. 87: 418-423, 2010.
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[PubMed: 20817137]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.08.004]
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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. 6/29/2011.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A., Szczepanska, M., Krawczynski, M., Zachwieja, J., Zwolinska, D., Beales, P. L., Ropers, H.-H., Latos-Bielenska, A., Kuss, A. W.
|
|
<strong>Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.</strong>
|
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Am. J. Hum. Genet. 86: 949-956, 2010.
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[PubMed: 20493458]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.04.012]
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</p>
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</li>
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</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 : 02/05/2018<br>Marla J. F. O'Neill - updated : 7/13/2011
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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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Matthew B. Gross : 6/29/2011
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carol : 08/09/2019<br>carol : 02/08/2018<br>carol : 02/06/2018<br>carol : 02/05/2018<br>wwang : 07/19/2011<br>terry : 7/13/2011<br>mgross : 6/29/2011
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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